PDB ID 2PCX     CHAIN A
Protein name Cellular tumor antigen p53
Uniprot Accession P04637
The number of similar proteins 230
The number of binding states 11
The number of binding partners 9

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2PCX (CHAIN: A)
1 Monomeric state
2 Q8WUF5  
3 P04637  
4 Q9DH70  
5 Q12888  
6 4QO1  
7 Q07817  
8 P03126   P0AEX9  
9 P04637   P04637  
10 P04637   P00282  
11 P04637   Q12888  

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Molecule viewer


Only interaction residues
#binding
partners
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   HHHHHHSSSV   PSQKTYQGSY   GFRLGFLHSG   TAKSVTCTYS   PALNKMFCQL   50
51   AKTCPVQLWV   DSTPPPGTRV   RAMAIYKQSQ   HMTEVVRRCP   HHERCSDSDG   100
101   LAPPQHLIRV   EGNLRVEYLD   DRNTFRHSVV   VPYEPPEVGS   DCTTIHYNYM   150
151   CNSSCMGGMN   RRPILTIITL   EDSSGNLLGR   NSFEVRVCAC   PGRDQRTEEE   200
201   NLRKKSSVVN   SSCMGGMCRR         250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
94_SER THR VAR_005859 -
US - Sporadic cancers
94_SER LEU VAR_044642 -
US - Sporadic cancers
94_SER TER ClinVar
chr17:7579406 		-
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
95_SER PHE VAR_044643 -
US - Sporadic cancers
95_SER THR VAR_044644 -
US - A sporadic cancer
96_SER CYS VAR_044645 -
US - A sporadic cancer
96_SER PHE VAR_044646 -
US - Sporadic cancers
96_SER PRO VAR_044647 -
US - A sporadic cancer
97_VAL ALA VAR_044648 -
US - A sporadic cancer
97_VAL PHE VAR_044649 -
US - A sporadic cancer
97_VAL ILE VAR_044650 rs730882023
US - Familial cancer not matching LFS
98_PRO LEU VAR_044651 rs1245723119
US - Sporadic cancers
98_PRO SER VAR_044652 -
US - Sporadic cancers
99_SER PHE VAR_044653 -
US - Sporadic cancers
99_SER PRO VAR_044654 -
US - A sporadic cancer
100_GLN ARG VAR_044655 -
US - A sporadic cancer
100_GLN TER ClinVar
chr17:7579389 		rs1567555994
Pathogenic/Likely pathogenic - Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Malignant tumor of urinary bladder [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980]
101_LYS ASN VAR_044656 rs878854069
US - A sporadic cancer
101_LYS ARG VAR_044657 -
US - Sporadic cancers
102_THR ILE VAR_044658 rs786202717
US - Sporadic cancers
103_TYR TER ClinVar
chr17:7579378 		rs1597373901
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
103_TYR TER ClinVar
chr17:7579378 		-
Pathogenic - Li-Fraumeni syndrome|not provided [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900]
104_GLN HIS VAR_044659 -
US - Sporadic cancers
104_GLN LEU VAR_044660 -
US - A sporadic cancer
104_GLN TER ClinVar
chr17:7579377 		rs1567555934
Pathogenic - Li-Fraumeni syndrome|Neoplasm of ovary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
105_GLY CYS VAR_044661 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
105_GLY ASP VAR_044662 rs587781504
US - Sporadic cancers
105_GLY ARG VAR_044663 rs1060501195
US - Sporadic cancers
105_GLY SER VAR_044664 rs1060501195
US - A sporadic cancer
105_GLY VAL VAR_044665 -
US - Sporadic cancers
105_GLY ARG ClinVar
chr17:7579374 		rs1060501195
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
105_GLY SER ClinVar
chr17:7579374 		rs1060501195
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
105_GLY VAL ClinVar
chr17:7579373 		rs587781504
Likely pathogenic - Neoplasm of ovary|Lung adenocarcinoma [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
106_SER GLY VAR_044666 -
US - A sporadic cancer
106_SER ARG VAR_044667 rs1555526581
US - A familial cancer not matching LFS
106_SER ARG ClinVar
chr17:7579369 		rs1555526581
Likely pathogenic - not specified|Li-Fraumeni syndrome [MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
107_TYR CYS VAR_044668 rs587782447
US - A sporadic cancer
107_TYR ASP VAR_044669 -
US - Sporadic cancers
107_TYR HIS VAR_044670 rs368771578
US - A sporadic cancer
107_TYR TER ClinVar
chr17:7579366 		rs770776262
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
107_TYR TER ClinVar
chr17:7579366 		rs770776262
Pathogenic - Li-Fraumeni syndrome|not provided [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900]
108_GLY ASP VAR_044671 -
US - A sporadic cancer
108_GLY SER VAR_044672 rs587782461
US - Sporadic cancers
109_PHE CYS VAR_044673 -
US - Sporadic cancers
109_PHE LEU VAR_044674 -
US - A sporadic cancer
109_PHE SER VAR_044675 rs1064796722
US - Sporadic cancers
109_PHE VAL ClinVar
chr17:7579362 		rs1057523496
Likely pathogenic - not provided [MedGen:CN517202]
109_PHE CYS ClinVar
chr17:7579361 		rs1064796722
Likely pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
109_PHE ILE ClinVar
chr17:7579362 		-
Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
110_ARG CYS VAR_005860 rs587781371
US - Sporadic cancers
110_ARG LEU VAR_005861 rs11540654
US - A familial cancer not matching LFS
110_ARG PRO VAR_005862 rs11540654
US - Sporadic cancers
110_ARG GLY VAR_044676 -
US - A sporadic cancer
110_ARG HIS VAR_044677 rs11540654
US - Sporadic cancers
110_ARG SER VAR_044678 rs587781371
US - A sporadic cancer
110_ARG PRO ClinVar
chr17:7579358 		rs11540654
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
110_ARG LEU ClinVar
chr17:7579358 		rs11540654
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
110_ARG HIS 8.3kJPN
chr17:7579358 		rs11540654
- 0.0001 -
111_LEU MET VAR_044679 -
US - A sporadic cancer
111_LEU PRO VAR_044680 rs1057519997
US - Sporadic cancers
111_LEU GLN VAR_044681 rs1057519997
US - Sporadic cancers
111_LEU ARG VAR_044682 rs1057519997
US - Sporadic cancers
112_GLY ASP VAR_044683 -
US - Sporadic cancers
112_GLY SER VAR_044684 rs1423803759
US - Sporadic cancers
113_PHE CYS VAR_005863 -
US - Sporadic cancers
113_PHE VAL VAR_033033 rs587781642
US - Sporadic cancers
113_PHE ILE VAR_044685 -
US - A sporadic cancer
113_PHE LEU VAR_044686 -
US - Sporadic cancers
113_PHE SER VAR_044687 -
US - Sporadic cancers
113_PHE GLY VAR_045788 -
US - A sporadic cancer
113_PHE LEU ClinVar
chr17:7579348 		-
Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
114_LEU TER ClinVar
chr17:7579346 		rs781724995
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
115_HIS TYR VAR_044688 -
US - Sporadic cancers
116_SER CYS VAR_044689 -
US - Sporadic cancers
116_SER PHE VAR_044690 -
US - A sporadic cancer
116_SER PRO VAR_044691 -
US - A sporadic cancer
117_GLY GLU VAR_044692 rs755238756
US - Sporadic cancers
117_GLY ARG VAR_044693 rs1555526518
US - Sporadic cancers
118_THR ALA VAR_044694 -
US - A sporadic cancer
118_THR ILE VAR_044695 rs1064794141
US - Sporadic cancers
118_THR ARG VAR_044696 -
US - A sporadic cancer
119_ALA ASP VAR_044697 -
US - A sporadic cancer
119_ALA THR VAR_044698 -
US - A sporadic cancer
119_ALA GLY ClinVar
chr17:7579331 		rs2073451331
Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
120_LYS GLU VAR_044699 rs121912658
US - Sporadic cancers
120_LYS MET VAR_044700 -
US - Sporadic cancers
120_LYS GLN VAR_044701 rs121912658
US - A sporadic cancer
120_LYS ARG VAR_044702 -
US - Sporadic cancers
120_LYS TER ClinVar
chr17:7579329 		rs121912658
Pathogenic - Li-fraumeni-like syndrome [MONDO:MONDO:0800290,MedGen:C2675080]
121_SER PHE VAR_044703 -
US - Sporadic cancers
122_VAL LEU VAR_044704 -
US - A sporadic cancer
123_THR ILE VAR_044705 rs1555526486
US - A sporadic cancer
123_THR ASN VAR_044706 -
US - A sporadic cancer
124_CYS GLY VAR_044707 rs730881997
US - A sporadic cancer
124_CYS ARG VAR_044708 -
US - Sporadic cancers
124_CYS SER VAR_044709 rs730881997
US - Sporadic cancers
124_CYS TRP VAR_044710 -
US - A sporadic cancer
124_CYS TYR VAR_044711 -
US - A sporadic cancer
124_CYS TER ClinVar
chr17:7579315 		rs1555526478
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
125_THR MET VAR_005864 rs786201057
US - Sporadic cancers
125_THR ALA VAR_044712 -
US - A sporadic cancer
125_THR LYS VAR_044713 rs786201057
US - Sporadic cancers
125_THR PRO VAR_044714 rs1057520003
US - A sporadic cancer
125_THR ARG VAR_044715 rs786201057
US - Sporadic cancers
125_THR THR ClinVar
chr17:7579312 		rs55863639
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Rhabdomyosarcoma|Malignant tumor of prostate|Breast and/or ovarian cancer|Glioma susceptibility 1|Li-Fraumeni syndrome 1|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MedGen:CN221562|MONDO:MONDO:0024498,MedGen:C2750850,OMIM:137800|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
125_THR LYS ClinVar
chr17:7579313 		rs786201057
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Brainstem glioma|Lung adenocarcinoma|Glioblastoma|Papillary renal cell carcinoma type 1|Acute myeloid leukemia|Neoplasm of the large intestine|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Carcinoma of esophagus|Breast neoplasm|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Neoplasm of brain|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
125_THR THR ClinVar
chr17:7579312 		rs55863639
Pathogenic - Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
125_THR ARG ClinVar
chr17:7579313 		rs786201057
Pathogenic/Likely pathogenic - Glioblastoma|Breast neoplasm|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the skin|Small cell lung carcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Neoplasm of brain|Acute myeloid leukemia|Carcinoma of esophagus|Gastric adenocarcinoma|Squamous cell lung carcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Brainstem glioma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
125_THR THR ClinVar
chr17:7579312 		rs55863639
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|not provided|TP53-related condition|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900||MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
126_TYR ASP VAR_005865 rs886039483
US - Sporadic cancers
126_TYR ASN VAR_005866 rs886039483
US - Sporadic cancers
126_TYR CYS VAR_044716 rs1555526335
US - A familial cancer not matching LFS
126_TYR PHE VAR_044717 -
US - A sporadic cancer
126_TYR HIS VAR_044718 -
US - Sporadic cancers
126_TYR SER VAR_044719 -
US - Sporadic cancers
126_TYR GLY VAR_045789 -
US - A sporadic cancer
126_TYR TER ClinVar
chr17:7578552 		rs1567554500
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Gastric cancer [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659]
126_TYR TER ClinVar
chr17:7578552 		rs1567554500
Pathogenic - Li-Fraumeni syndrome|Prostate cancer, hereditary, 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331]
127_SER PHE VAR_005867 rs730881999
US - Sporadic cancers
127_SER CYS VAR_044720 rs730881999
US - A sporadic cancer
127_SER PRO VAR_044721 -
US - Sporadic cancers
127_SER THR VAR_044722 -
US - Sporadic cancers
127_SER TYR VAR_044723 -
US - Sporadic cancers
127_SER CYS ClinVar
chr17:7578550 		rs730881999
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
127_SER TYR ClinVar
chr17:7578550 		rs730881999
Pathogenic - Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
127_SER PRO ClinVar
chr17:7578551 		rs1597371694
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
128_PRO SER VAR_005868 -
US - Sporadic cancers
128_PRO ALA VAR_044724 -
US - Sporadic cancers
128_PRO LEU VAR_044725 -
US - Sporadic cancers
128_PRO ARG VAR_044726 -
US - Sporadic cancers
129_ALA ASP VAR_005869 -
US - Sporadic cancers
129_ALA GLY VAR_044727 -
US - A sporadic cancer
129_ALA THR VAR_044728 rs1438095083
US - Sporadic cancers
129_ALA VAL VAR_044729 rs137852792
US - Sporadic cancers
130_LEU ARG VAR_005870 -
US - Sporadic cancers
130_LEU PHE VAR_044730 rs863224683
US - Sporadic cancers
130_LEU HIS VAR_044731 -
US - Sporadic cancers
130_LEU ILE VAR_044732 -
US - A sporadic cancer
130_LEU PRO VAR_044733 rs1131691013
US - Sporadic cancers
130_LEU VAL VAR_044734 rs863224683
US - Sporadic cancers
130_LEU PRO ClinVar
chr17:7578541 		rs1131691013
Pathogenic - Hereditary cancer-predisposing syndrome|12 conditions [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|12 conditions]
130_LEU HIS ClinVar
chr17:7578541 		rs1131691013
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
131_ASN SER VAR_005871 -
US - Sporadic cancers
131_ASN LYS VAR_005872 rs769270327
US - Sporadic cancers
131_ASN ASP VAR_044735 -
US - A sporadic cancer
131_ASN HIS VAR_044736 -
US - Sporadic cancers
131_ASN ILE VAR_044737 rs1131691037
US - Sporadic cancers
131_ASN THR VAR_044738 -
US - A sporadic cancer
131_ASN TYR VAR_044739 rs587782160
US - Sporadic cancers
131_ASN TYR ClinVar
chr17:7578539 		rs587782160
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
131_ASN ILE ClinVar
chr17:7578538 		rs1131691037
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
132_LYS MET VAR_005873 rs1057519996
US - Sporadic cancers
132_LYS GLN VAR_005874 rs747342068
US - Sporadic cancers
132_LYS GLU VAR_044740 rs747342068
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
132_LYS ASN VAR_044741 rs866775781
US - Sporadic cancers
132_LYS ARG VAR_044742 rs1057519996
US - Sporadic cancers
132_LYS THR VAR_044743 rs1057519996
US - Sporadic cancers
132_LYS LEU VAR_045790 -
US - A sporadic cancer
132_LYS TRP VAR_045791 -
US - A sporadic cancer
132_LYS ASN ClinVar
chr17:7578534 		rs866775781
Likely pathogenic - Lung adenocarcinoma|Multiple myeloma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Uterine carcinosarcoma|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Glioblastoma|Gastric adenocarcinoma|Neoplasm of uterine cervix|Carcinoma of esophagus|Neoplasm of brain|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
132_LYS ARG ClinVar
chr17:7578535 		rs1057519996
Pathogenic - Neoplasm of brain|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Multiple myeloma|Adrenal cortex carcinoma|Breast neoplasm|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Pancreatic adenocarcinoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
132_LYS GLU ClinVar
chr17:7578536 		rs747342068
Pathogenic/Likely pathogenic - Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Breast neoplasm|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Neoplasm of uterine cervix|Multiple myeloma|Neoplasm of brain|Uterine carcinosarcoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Adrenal cortex carcinoma|Squamous cell lung carcinoma|Glioblastoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
132_LYS ASN ClinVar
chr17:7578534 		rs866775781
Pathogenic/Likely pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome|not provided [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900]
132_LYS TER ClinVar
chr17:7578536 		-
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
133_MET THR VAR_005875 rs28934873
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
133_MET ILE VAR_044744 rs1064795139
US - Sporadic cancers
133_MET LYS VAR_044745 -
US - Sporadic cancers
133_MET LEU VAR_044746 -
US - Sporadic cancers
133_MET ARG VAR_044747 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
133_MET VAL VAR_044748 rs1057280220
US - Sporadic cancers
133_MET THR ClinVar
chr17:7578532 		rs28934873
Pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
133_MET LYS ClinVar
chr17:7578532 		-
Likely pathogenic - Breast carcinoma [Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222]
134_PHE LEU VAR_036504 rs267605077
US - Sporadic cancers
134_PHE CYS VAR_044749 rs780442292
US - Sporadic cancers
134_PHE ILE VAR_044750 -
US - Sporadic cancers
134_PHE SER VAR_044751 -
US - Sporadic cancers
134_PHE VAL VAR_044752 -
US - Sporadic cancers
134_PHE CYS ClinVar
chr17:7578529 		rs780442292
Likely pathogenic - Hereditary cancer-predisposing syndrome|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900]
134_PHE ILE ClinVar
chr17:7578530 		rs267605077
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
135_CYS SER VAR_005876 rs1057519975
US - Sporadic cancers
135_CYS PHE VAR_005877 rs587781991
US - Sporadic cancers
135_CYS GLY VAR_044753 rs1057519975
US - Sporadic cancers
135_CYS ARG VAR_044754 rs1057519975
US - Sporadic cancers
135_CYS TRP VAR_044755 rs1057519976
US - Sporadic cancers
135_CYS TYR VAR_044756 rs587781991
US - Sporadic cancers
135_CYS THR VAR_045792 -
US - A sporadic cancer
135_CYS PHE ClinVar
chr17:7578526 		rs587781991
Pathogenic - Neoplasm of brain|Prostate adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
135_CYS ARG ClinVar
chr17:7578527 		rs1057519975
Pathogenic - Neoplasm of brain|Prostate adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Adrenal cortex carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
135_CYS GLY ClinVar
chr17:7578527 		rs1057519975
Likely pathogenic - Neoplasm of the large intestine|Prostate adenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Adrenal cortex carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
136_GLN GLU VAR_005878 rs1555526268
US - Sporadic cancers
136_GLN LYS VAR_005879 -
US - A sporadic cancer
136_GLN HIS VAR_044757 rs758781593
US - Sporadic cancers
136_GLN PRO VAR_044758 -
US - Sporadic cancers
136_GLN ARG VAR_044759 -
US - Sporadic cancers
136_GLN TER ClinVar
chr17:7578524 		-
Pathogenic - Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
137_LEU GLN VAR_005880 -
US - Sporadic cancers
137_LEU MET VAR_044760 -
US - Sporadic cancers
137_LEU PRO VAR_044761 -
US - Sporadic cancers
137_LEU VAL VAR_044762 -
US - Sporadic cancers
138_ALA PRO VAR_005881 rs28934875
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
138_ALA VAL VAR_033034 rs750600586
US - Sporadic cancers
138_ALA ASP VAR_044763 -
US - Sporadic cancers
138_ALA SER VAR_044764 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
138_ALA THR VAR_044765 -
US - Sporadic cancers
138_ALA PRO ClinVar
chr17:7578518 		rs28934875
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
139_LYS ASN VAR_005882 -
US - Sporadic cancers
139_LYS GLU VAR_044766 rs1212996409
US - Sporadic cancers
139_LYS GLN VAR_044767 -
US - Sporadic cancers
139_LYS ARG VAR_044768 -
US - Sporadic cancers
139_LYS THR VAR_044769 -
US - Sporadic cancers
139_LYS TER ClinVar
chr17:7578515 		rs1212996409
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
140_THR ALA VAR_044770 -
US - Sporadic cancers
140_THR ILE VAR_044771 -
US - Sporadic cancers
140_THR ASN VAR_044772 rs786202561
US - A sporadic cancer
140_THR PRO VAR_044773 -
US - A sporadic cancer
140_THR SER VAR_044774 -
US - Sporadic cancers
141_CYS GLY VAR_005884 rs1057519978
US - Sporadic cancers
141_CYS PHE VAR_005885 rs587781288
US - Sporadic cancers
141_CYS TYR VAR_005886 rs587781288
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
141_CYS ARG VAR_044775 rs1057519978
US - Sporadic cancers
141_CYS SER VAR_044776 rs1057519978
US - Sporadic cancers
141_CYS TRP VAR_044777 rs1057519977
US - Sporadic cancers
141_CYS ALA VAR_045793 -
US - A sporadic cancer
141_CYS TYR ClinVar
chr17:7578508 		rs587781288
Pathogenic - Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Neoplasm of the large intestine|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Prostate adenocarcinoma|Acute myeloid leukemia|Li-Fraumeni syndrome|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of brain|Multiple myeloma|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
141_CYS TRP ClinVar
chr17:7578507 		rs1057519977
Pathogenic/Likely pathogenic - Acute myeloid leukemia|Squamous cell lung carcinoma|Neoplasm of the large intestine|Breast neoplasm|Multiple myeloma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Prostate adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of brain|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037]
141_CYS GLY ClinVar
chr17:7578509 		rs1057519978
Likely pathogenic - Acute myeloid leukemia|Neoplasm of the large intestine|Lung adenocarcinoma|Multiple myeloma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Breast neoplasm|Papillary renal cell carcinoma type 1|Prostate adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of brain [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118]
141_CYS SER ClinVar
chr17:7578509 		rs1057519978
Likely pathogenic - Breast neoplasm|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Prostate adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]
142_PRO ALA VAR_044778 -
US - Sporadic cancers
142_PRO HIS VAR_044779 -
US - Sporadic cancers
142_PRO LEU VAR_044780 rs779196500
US - Sporadic cancers
142_PRO ARG VAR_044781 -
US - A sporadic cancer
142_PRO SER VAR_044782 -
US - Sporadic cancers
142_PRO THR VAR_044783 -
US - Sporadic cancers
142_PRO PHE VAR_045794 -
US - Sporadic cancers
143_VAL ALA VAR_005887 -
US - Sporadic cancers
143_VAL GLU VAR_044784 -
US - Sporadic cancers
143_VAL GLY VAR_044785 rs1555526241
US - Sporadic cancers
143_VAL LEU VAR_044786 rs587782620
US - Sporadic cancers
143_VAL MET VAR_044787 rs587782620
US - Sporadic cancers
143_VAL ALA ClinVar
chr17:7578502 		rs1555526241
Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
144_GLN PRO VAR_005888 rs786203071
US - Sporadic cancers
144_GLN HIS VAR_044788 rs786201419
US - Sporadic cancers
144_GLN LYS VAR_044789 -
US - Sporadic cancers
144_GLN LEU VAR_044790 rs786203071
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
144_GLN ARG VAR_044791 -
US - Sporadic cancers
144_GLN TER ClinVar
chr17:7578500 		rs757274881
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
145_LEU PRO VAR_005889 rs587782197
US - Sporadic cancers
145_LEU GLN VAR_005890 -
US - Sporadic cancers
145_LEU MET VAR_044792 -
US - Sporadic cancers
145_LEU ARG VAR_044793 -
US - Sporadic cancers
145_LEU VAL VAR_044794 -
US - Sporadic cancers
146_TRP CYS VAR_044795 -
US - A sporadic cancer
146_TRP GLY VAR_044796 rs786203064
US - Sporadic cancers
146_TRP LEU VAR_044797 -
US - Sporadic cancers
146_TRP ARG VAR_044798 -
US - Sporadic cancers
146_TRP SER VAR_044799 -
US - Sporadic cancers
146_TRP TER ClinVar
chr17:7578492 		rs1131691026
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
146_TRP TER ClinVar
chr17:7578493 		rs1206165503
Pathogenic - Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
147_VAL ASP VAR_005891 -
US - Sporadic cancers
147_VAL GLY VAR_005892 rs1453167097
US - Sporadic cancers
147_VAL ALA VAR_044800 -
US - Sporadic cancers
147_VAL GLU VAR_044801 -
US - Sporadic cancers
147_VAL PHE VAR_044802 -
US - A sporadic cancer
147_VAL ILE VAR_044803 rs1555526226
US - Sporadic cancers
148_ASP ALA VAR_044804 rs1046611742
US - A sporadic cancer
148_ASP GLU VAR_044805 -
US - Sporadic cancers
148_ASP GLY VAR_044806 -
US - A sporadic cancer
148_ASP ASN VAR_044807 -
US - Sporadic cancers
148_ASP VAL VAR_044808 -
US - Sporadic cancers
148_ASP TYR VAR_044809 rs1131691007
US - Sporadic cancers
149_SER PRO VAR_005893 -
US - Sporadic cancers
149_SER PHE VAR_044810 rs1555526214
US - Sporadic cancers
149_SER THR VAR_044811 -
US - Sporadic cancers
150_THR ALA VAR_044812 -
US - A sporadic cancer
150_THR ILE VAR_044813 -
US - Sporadic cancers
150_THR LYS VAR_044814 -
US - Sporadic cancers
150_THR ASN VAR_044815 -
US - A sporadic cancer
150_THR PRO VAR_044816 -
US - A sporadic cancer
150_THR ARG VAR_044817 -
US - A sporadic cancer
151_PRO ALA VAR_005894 rs28934874
US - Sporadic cancers
151_PRO SER VAR_005895 rs28934874
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
151_PRO THR VAR_005896 rs28934874
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
151_PRO HIS VAR_044818 rs1057520000
US - Sporadic cancers
151_PRO LEU VAR_044819 -
US - Sporadic cancers
151_PRO ARG VAR_044820 rs1057520000
US - Sporadic cancers
151_PRO THR ClinVar
chr17:7578479 		rs28934874
Pathogenic/Likely pathogenic - Breast adenocarcinoma|Hereditary cancer-predisposing syndrome|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Multiple myeloma|Adenoid cystic carcinoma|Neoplasm of brain|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|not provided|Li-Fraumeni syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0004988,MedGen:C0858252|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
151_PRO SER ClinVar
chr17:7578479 		rs28934874
Pathogenic/Likely pathogenic - Breast adenocarcinoma|not provided|Hereditary cancer-predisposing syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Gastric adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Adenoid cystic carcinoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Breast neoplasm|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Neoplasm of ovary|Rhabdomyosarcoma|Li-Fraumeni syndrome 1 [MONDO:MONDO:0004988,MedGen:C0858252|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
151_PRO ARG ClinVar
chr17:7578478 		rs1057520000
Pathogenic/Likely pathogenic - Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Multiple myeloma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Adenoid cystic carcinoma|Carcinoma of esophagus|Breast neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
151_PRO ALA ClinVar
chr17:7578479 		rs28934874
Pathogenic - Breast neoplasm|Uterine carcinosarcoma|Neoplasm of the large intestine|Neoplasm of brain|Hepatocellular carcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Multiple myeloma|Malignant neoplasm of body of uterus|Adenoid cystic carcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
152_PRO LEU VAR_005897 rs587782705
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
152_PRO SER VAR_005898 rs767328513
US - Sporadic cancers
152_PRO ALA VAR_044821 -
US - Sporadic cancers
152_PRO GLN VAR_044822 -
US - Sporadic cancers
152_PRO ARG VAR_044823 -
US - Sporadic cancers
152_PRO THR VAR_044824 -
US - Sporadic cancers
152_PRO LEU ClinVar
chr17:7578475 		rs587782705
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Familial cancer of breast|Squamous cell carcinoma of the head and neck|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
152_PRO ARG ClinVar
chr17:7578475 		rs587782705
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
153_PRO THR VAR_005899 -
US - Sporadic cancers
153_PRO ALA VAR_044825 -
US - Sporadic cancers
153_PRO HIS VAR_044826 -
US - A sporadic cancer
153_PRO LEU VAR_044827 -
US - Sporadic cancers
153_PRO ARG VAR_044828 -
US - A sporadic cancer
153_PRO SER VAR_044829 rs1064795860
US - Sporadic cancers
153_PRO PHE VAR_045795 -
US - A sporadic cancer
154_GLY VAL VAR_005900 rs762846821
US - A brain tumor with no family history
154_GLY ALA VAR_044830 -
US - Sporadic cancers
154_GLY CYS VAR_044831 -
US - A sporadic cancer
154_GLY ASP VAR_044832 rs762846821
US - Sporadic cancers
154_GLY SER VAR_044833 rs137852789
US - Sporadic cancers
154_GLY ILE VAR_045796 -
US - Sporadic cancers
155_THR ALA VAR_005901 rs772683278
US - Sporadic cancers
155_THR ILE VAR_044834 -
US - Sporadic cancers
155_THR MET VAR_044835 -
US - A sporadic cancer
155_THR ASN VAR_044836 rs786202752
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
155_THR PRO VAR_044837 -
US - Sporadic cancers
155_THR SER VAR_044838 rs786202752
US - Sporadic cancers
156_ARG PRO VAR_005902 -
US - Sporadic cancers
156_ARG CYS VAR_044839 rs563378859
US - Sporadic cancers
156_ARG GLY VAR_044840 -
US - Sporadic cancers
156_ARG HIS VAR_044841 rs371524413
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
156_ARG LEU VAR_044842 -
US - Sporadic cancers
156_ARG SER VAR_044843 -
US - Sporadic cancers
157_VAL ASP VAR_005903 -
US - Sporadic cancers
157_VAL PHE VAR_005904 rs121912654
US - Sporadic cancers
157_VAL ILE VAR_012977 rs121912654
US - Sporadic cancers
157_VAL ALA VAR_044844 rs1131691023
US - Sporadic cancers
157_VAL GLY VAR_044845 -
US - Sporadic cancers
157_VAL LEU VAR_044846 -
US - Sporadic cancers
158_ARG CYS VAR_005905 rs587780068
US - Sporadic cancers
158_ARG GLY VAR_005906 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
158_ARG HIS VAR_005907 rs587782144
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
158_ARG LEU VAR_044847 -
US - Sporadic cancers
158_ARG PRO VAR_044848 rs587782144
US - Sporadic cancers
158_ARG GLN VAR_044849 -
US - A sporadic cancer
158_ARG SER VAR_044850 -
US - Sporadic cancers
158_ARG PHE VAR_045797 -
US - A sporadic cancer
158_ARG TYR VAR_045798 -
US - A sporadic cancer
158_ARG HIS ClinVar
chr17:7578457 		rs587782144
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Rhabdomyosarcoma|Adrenocortical carcinoma, hereditary|Breast and/or ovarian cancer [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MedGen:CN221562]
158_ARG PRO ClinVar
chr17:7578457 		rs587782144
Likely pathogenic - not provided|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
158_ARG LEU ClinVar
chr17:7578457 		rs587782144
Pathogenic - Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
158_ARG GLY ClinVar
chr17:7578458 		rs587780068
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
158_ARG SER ClinVar
chr17:7578458 		rs587780068
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
159_ALA ASP VAR_044851 -
US - Sporadic cancers
159_ALA GLY VAR_044852 -
US - Sporadic cancers
159_ALA PRO VAR_044853 rs730882000
US - Sporadic cancers
159_ALA SER VAR_044854 -
US - Sporadic cancers
159_ALA THR VAR_044855 rs730882000
US - Sporadic cancers
159_ALA VAL VAR_044856 rs1555526131
US - Sporadic cancers
159_ALA PHE VAR_045799 rs730882022
US - A sporadic cancer
159_ALA VAL ClinVar
chr17:7578454 		rs1555526131
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
159_ALA ASP ClinVar
chr17:7578454 		rs1555526131
Pathogenic - Li-Fraumeni syndrome|Prostate cancer, hereditary, 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331]
160_MET ILE VAR_005908 rs772354334
US - Sporadic cancers
160_MET LYS VAR_044857 -
US - Sporadic cancers
160_MET THR VAR_044858 -
US - A sporadic cancer
160_MET VAL VAR_044859 rs377274728
US - Sporadic cancers
160_MET THR 8.3kJPN
chr17:7578451 		-
- 0.0001 -
161_ALA SER VAR_005909 -
US - Sporadic cancers
161_ALA ASP VAR_044860 rs1064795691
US - Sporadic cancers
161_ALA GLY VAR_044861 -
US - Sporadic cancers
161_ALA PRO VAR_044862 -
US - Sporadic cancers
161_ALA THR VAR_044863 rs193920817
US - Sporadic cancers
161_ALA VAL VAR_044864 -
US - Sporadic cancers
161_ALA PHE VAR_045800 -
US - A sporadic cancer
161_ALA THR ClinVar
chr17:7578449 		rs193920817
Pathogenic/Likely pathogenic - Malignant tumor of prostate|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
162_ILE SER VAR_005910 rs587780069
US - Sporadic cancers
162_ILE VAL VAR_005911 -
US - Sporadic cancers
162_ILE PHE VAR_044865 -
US - Sporadic cancers
162_ILE MET VAR_044866 -
US - Sporadic cancers
162_ILE ASN VAR_044867 -
US - A breast cancer with no family history
162_ILE THR VAR_044868 -
US - Sporadic cancers
163_TYR HIS VAR_005912 rs786203436
US - Sporadic cancers
163_TYR CYS VAR_033035 rs148924904
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
163_TYR ASP VAR_044869 rs786203436
US - Sporadic cancers
163_TYR PHE VAR_044870 -
US - A sporadic cancer
163_TYR ASN VAR_044871 rs786203436
US - Sporadic cancers
163_TYR SER VAR_044872 -
US - Sporadic cancers
163_TYR CYS ClinVar
chr17:7578442 		rs148924904
Pathogenic - not provided|Hepatocellular carcinoma|Brainstem glioma|Squamous cell lung carcinoma|Small cell lung carcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Uterine carcinosarcoma|Lung adenocarcinoma|Neoplasm of brain|Li-Fraumeni syndrome [MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
163_TYR TER ClinVar
chr17:7578441 		rs1567553246
Pathogenic - not provided|Li-Fraumeni syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
163_TYR TER ClinVar
chr17:7578441 		rs1567553246
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
164_LYS ASN VAR_005913 rs1131691034
US - Sporadic cancers
164_LYS GLN VAR_005914 -
US - Sporadic cancers
164_LYS GLU VAR_044873 rs879254249
US - Sporadic cancers
164_LYS MET VAR_044874 -
US - Sporadic cancers
164_LYS ARG VAR_044875 -
US - Sporadic cancers
164_LYS THR VAR_044876 -
US - Sporadic cancers
164_LYS TER ClinVar
chr17:7578440 		rs879254249
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
165_GLN LEU VAR_005915 -
US - Sporadic cancers
165_GLN ARG VAR_005916 -
US - Sporadic cancers
165_GLN GLU VAR_044877 -
US - Sporadic cancers
165_GLN HIS VAR_044878 -
US - A sporadic cancer
165_GLN PRO VAR_044879 -
US - Sporadic cancers
165_GLN TER ClinVar
chr17:7578437 		rs730882001
Pathogenic - not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|Lip and oral cavity carcinoma|Familial cancer of breast|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
165_GLN LEU ClinVar
chr17:7578436 		-
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
166_SER LEU VAR_005917 rs1555526101
US - Sporadic cancers
166_SER ALA VAR_044880 -
US - Sporadic cancers
166_SER GLY VAR_044881 -
US - A sporadic cancer
166_SER PRO VAR_044882 -
US - Sporadic cancers
166_SER THR VAR_044883 -
US - Sporadic cancers
166_SER TER ClinVar
chr17:7578433 		rs1555526101
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
167_GLN HIS VAR_044884 -
US - Sporadic cancers
167_GLN LYS VAR_044885 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
167_GLN LEU VAR_044886 -
US - Sporadic cancers
167_GLN ARG VAR_044887 -
US - Sporadic cancers
167_GLN TER ClinVar
chr17:7578431 		rs1555526097
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
168_HIS ARG VAR_005918 rs867114783
US - Sporadic cancers
168_HIS ASP VAR_044888 -
US - Sporadic cancers
168_HIS LEU VAR_044889 -
US - Sporadic cancers
168_HIS ASN VAR_044890 -
US - Sporadic cancers
168_HIS PRO VAR_044891 -
US - Sporadic cancers
168_HIS GLN VAR_044892 -
US - Sporadic cancers
168_HIS TYR VAR_044893 -
US - Sporadic cancers
168_HIS VAL VAR_045801 -
US - A sporadic cancer
168_HIS LEU ClinVar
chr17:7578427 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
169_MET ILE VAR_005919 -
US - Sporadic cancers
169_MET THR VAR_005920 -
US - Sporadic cancers
169_MET LYS VAR_044894 -
US - Sporadic cancers
169_MET VAL VAR_044895 -
US - Sporadic cancers
170_THR MET VAR_005921 rs779000871
US - Sporadic cancers
170_THR SER VAR_005922 -
US - Sporadic cancers
170_THR ALA VAR_044896 rs587780729
US - Sporadic cancers
170_THR LYS VAR_044897 -
US - A sporadic cancer
170_THR PRO VAR_044898 -
US - A sporadic cancer
171_GLU ALA VAR_044899 -
US - A sporadic cancer
171_GLU ASP VAR_044900 -
US - Sporadic cancers
171_GLU GLY VAR_044901 -
US - Sporadic cancers
171_GLU LYS VAR_044902 rs587781845
US - Sporadic cancers
171_GLU GLN VAR_044903 -
US - A sporadic cancer
171_GLU VAL VAR_044904 -
US - Sporadic cancers
171_GLU TER ClinVar
chr17:7578419 		rs587781845
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
171_GLU GLY ClinVar
chr17:7578418 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
171_GLU ASP ClinVar
chr17:7578417 		-
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
172_VAL ALA VAR_005923 -
US - Sporadic cancers
172_VAL ASP VAR_044905 -
US - Sporadic cancers
172_VAL PHE VAR_044906 rs1131691043
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
172_VAL GLY VAR_044907 rs1131691021
US - Sporadic cancers
172_VAL ILE VAR_044908 -
US - Sporadic cancers
172_VAL ILE 8.3kJPN
chr17:7578416 		-
- 0.0001 -
173_VAL GLU VAR_005924 rs1057519747
US - Sporadic cancers
173_VAL LEU VAR_005925 rs876660754
US - Sporadic cancers
173_VAL MET VAR_005926 rs876660754
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
173_VAL ALA VAR_044909 rs1057519747
US - Sporadic cancers
173_VAL GLY VAR_044910 rs1057519747
US - Sporadic cancers
173_VAL TRP VAR_045802 -
US - A sporadic cancer
173_VAL MET ClinVar
chr17:7578413 		rs876660754
Pathogenic - Hereditary cancer-predisposing syndrome|not provided|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Neoplasm of brain|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Malignant melanoma of skin|Breast neoplasm|Pancreatic adenocarcinoma|Carcinoma of esophagus|Brainstem glioma|Small cell lung carcinoma|Neoplasm of ovary|Lip and oral cavity carcinoma [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641]
173_VAL ALA ClinVar
chr17:7578412 		rs1057519747
Pathogenic/Likely pathogenic - Adrenal cortex carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Carcinoma of esophagus|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Brainstem glioma|Malignant melanoma of skin|Small cell lung carcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Lung adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
173_VAL LEU ClinVar
chr17:7578413 		rs876660754
Pathogenic/Likely pathogenic - Lung adenocarcinoma|Malignant melanoma of skin|Breast neoplasm|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Small cell lung carcinoma|Gastric adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|not provided|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
174_ARG LYS VAR_005927 rs1064796681
US - Sporadic cancers
174_ARG GLY VAR_044911 rs864622115
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
174_ARG MET VAR_044912 -
US - Sporadic cancers
174_ARG SER VAR_044913 -
US - Sporadic cancers
174_ARG THR VAR_044914 -
US - A sporadic cancer
174_ARG TRP VAR_044915 -
US - Sporadic cancers
175_ARG CYS VAR_005928 rs138729528
US - Sporadic cancers
175_ARG GLY VAR_005929 rs138729528
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG LEU VAR_005930 rs28934578
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG PRO VAR_005931 -
US - Sporadic cancers
175_ARG HIS VAR_005932 rs28934578
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG GLN VAR_044916 -
US - A sporadic cancer
175_ARG SER VAR_044917 -
US - Sporadic cancers
175_ARG HIS ClinVar
chr17:7578406 		rs28934578
Pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|not provided|Malignant tumor of esophagus|Li-Fraumeni syndrome|Neoplasm|Breast neoplasm|Neoplasm of ovary|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Colorectal cancer|12 conditions|Gastric cancer|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
175_ARG LEU ClinVar
chr17:7578406 		rs28934578
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
175_ARG GLY ClinVar
chr17:7578407 		rs138729528
Pathogenic - Neoplasm of the large intestine|Brainstem glioma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Nasopharyngeal neoplasm|Glioblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Prostate adenocarcinoma|Neoplasm of brain|Pancreatic adenocarcinoma|Medulloblastoma|Malignant melanoma of skin|Lung adenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Uterine carcinosarcoma|Gallbladder carcinoma|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
175_ARG CYS 8.3kJPN
chr17:7578407 		rs138729528
- 0.0001 -
176_CYS PHE VAR_005933 rs786202962
US - Sporadic cancers
176_CYS TRP VAR_005934 rs1057519980
US - Sporadic cancers
176_CYS GLY VAR_044918 -
US - Sporadic cancers
176_CYS ARG VAR_044919 -
US - Sporadic cancers
176_CYS SER VAR_044920 rs967461896
US - Sporadic cancers
176_CYS TYR VAR_044921 rs786202962
US - Sporadic cancers
176_CYS TYR ClinVar
chr17:7578403 		rs786202962
Pathogenic - Hereditary cancer-predisposing syndrome|not provided|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Squamous cell lung carcinoma|Neoplasm of brain|Breast neoplasm|Acute myeloid leukemia|Papillary renal cell carcinoma type 1|Carcinoma of esophagus|Neoplasm of the large intestine|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Familial ovarian cancer|Squamous cell carcinoma|Li-Fraumeni syndrome 1|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Human Phenotype Ontology:HP:0002860,MONDO:MONDO:0005096,MeSH:D002294,MedGen:C0007137|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
176_CYS PHE ClinVar
chr17:7578403 		rs786202962
Pathogenic/Likely pathogenic - Prostate adenocarcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Pancreatic adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Hepatocellular carcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Carcinoma of esophagus|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
176_CYS TER ClinVar
chr17:7578402 		-
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
177_PRO LEU VAR_005935 rs751477326
US - Sporadic cancers
177_PRO ARG VAR_036505 rs751477326
US - Sporadic cancers
177_PRO ALA VAR_044922 -
US - A sporadic cancer
177_PRO HIS VAR_044923 -
US - Sporadic cancers
177_PRO SER VAR_044924 rs147002414
US - Sporadic cancers
177_PRO THR VAR_044925 -
US - A sporadic cancer
177_PRO PHE VAR_045803 -
US - Sporadic cancers
177_PRO ILE VAR_045804 -
US - A sporadic cancer
177_PRO ARG ClinVar
chr17:7578400 		rs751477326
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
178_HIS ASP VAR_044926 -
US - Sporadic cancers
178_HIS LEU VAR_044927 -
US - A sporadic cancer
178_HIS ASN VAR_044928 rs1064795203
US - Sporadic cancers
178_HIS PRO VAR_044929 rs1555526004
US - Sporadic cancers
178_HIS GLN VAR_044930 -
US - Sporadic cancers
178_HIS ARG VAR_044931 -
US - Sporadic cancers
178_HIS TYR VAR_044932 -
US - Sporadic cancers
178_HIS ASP ClinVar
chr17:7578398 		rs1064795203
Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
178_HIS GLN ClinVar
chr17:7578396 		rs1555526001
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145]
178_HIS GLN ClinVar
chr17:7578396 		rs1555526001
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
179_HIS ASP VAR_044933 rs587780070
US - Sporadic cancers
179_HIS LEU VAR_044934 rs1057519991
US - Sporadic cancers
179_HIS ASN VAR_044935 rs587780070
US - Sporadic cancers
179_HIS PRO VAR_044936 rs1057519991
US - Sporadic cancers
179_HIS GLN VAR_044937 rs876660821
US - Sporadic cancers
179_HIS ARG VAR_044938 rs1057519991
US - Sporadic cancers
179_HIS TYR VAR_044939 rs587780070
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
179_HIS TYR ClinVar
chr17:7578395 		rs587780070
Pathogenic/Likely pathogenic - not provided|Glioblastoma|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Breast neoplasm|Squamous cell carcinoma of the skin|Pancreatic adenocarcinoma|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Gallbladder carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Lung adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MedGen:C3661900|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
179_HIS GLN ClinVar
chr17:7578393 		rs876660821
Pathogenic/Likely pathogenic - Acute myeloid leukemia|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Gallbladder carcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Neoplasm of brain|Glioblastoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Small cell lung carcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Uterine carcinosarcoma|Breast neoplasm|Hepatocellular carcinoma|Carcinoma of esophagus|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
179_HIS GLN ClinVar
chr17:7578393 		rs876660821
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Acute myeloid leukemia [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
180_GLU ALA VAR_044940 -
US - A sporadic cancer
180_GLU ASP VAR_044941 -
US - Sporadic cancers
180_GLU GLY VAR_044942 -
US - A sporadic cancer
180_GLU LYS VAR_044943 rs879253911
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
180_GLU GLN VAR_044944 -
US - Sporadic cancers
180_GLU VAL VAR_044945 -
US - A sporadic cancer
180_GLU LYS ClinVar
chr17:7578392 		rs879253911
Likely pathogenic - not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
180_GLU TER ClinVar
chr17:7578392 		rs879253911
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
181_ARG LEU VAR_005937 rs397514495
US - A familial cancer not matching LFS
181_ARG CYS VAR_044946 rs587782596
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
181_ARG GLY VAR_044947 -
US - Sporadic cancers
181_ARG HIS VAR_044948 rs397514495
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
181_ARG PRO VAR_044949 -
US - A familial cancer not matching LFS
181_ARG SER VAR_044950 rs587782596
US - Sporadic cancers
181_ARG PRO ClinVar
chr17:7578388 		rs397514495
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
182_CYS SER VAR_005938 -
US - Sporadic cancers
182_CYS ARG VAR_044951 -
US - Sporadic cancers
182_CYS TYR VAR_044952 -
US - Sporadic cancers
183_SER LEU VAR_044953 rs1555525970
US - Sporadic cancers
183_SER PRO VAR_044954 -
US - Sporadic cancers
183_SER TER ClinVar
chr17:7578382 		rs1555525970
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
183_SER SER ClinVar
chr17:7578381 		-
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
184_ASP TYR VAR_005939 -
US - Sporadic cancers
184_ASP GLY VAR_044955 rs1060501209
US - Sporadic cancers
184_ASP HIS VAR_044956 -
US - Sporadic cancers
184_ASP VAL VAR_044957 -
US - Sporadic cancers
184_ASP ASN VAR_047169 rs72661117
US - Sporadic cancers
185_SER CYS VAR_044958 -
US - A sporadic cancer
185_SER GLY VAR_044959 -
US - Sporadic cancers
185_SER ILE VAR_044960 -
US - Sporadic cancers
185_SER ASN VAR_044961 rs150607408
US - A sporadic cancer
185_SER ARG VAR_044962 -
US - Sporadic cancers
185_SER THR VAR_044963 -
US - A sporadic cancer
186_ASP TYR VAR_005940 -
US - A sporadic cancer
186_ASP GLU VAR_044964 rs375275361
US - A sporadic cancer
186_ASP GLY VAR_044965 -
US - Sporadic cancers
186_ASP HIS VAR_044966 -
US - Sporadic cancers
186_ASP ASN VAR_044967 rs1060501206
US - Sporadic cancers
186_ASP VAL VAR_044968 -
US - Sporadic cancers
187_GLY CYS VAR_005941 -
US - Sporadic cancers
187_GLY SER VAR_005942 rs776167460
US - Sporadic cancers
187_GLY ASP VAR_044969 -
US - Sporadic cancers
187_GLY ARG VAR_044970 -
US - Sporadic cancers
187_GLY VAL VAR_044971 -
US - Sporadic cancers
187_GLY ASN VAR_045805 -
US - A sporadic cancer
188_LEU PRO VAR_044972 rs1199893366
US - A sporadic cancer
188_LEU VAL VAR_044973 -
US - Sporadic cancers
189_ALA PRO VAR_005943 -
US - Sporadic cancers
189_ALA ASP VAR_044974 -
US - A sporadic cancer
189_ALA GLY VAR_044975 -
US - Sporadic cancers
189_ALA SER VAR_044976 rs1555525921
US - A sporadic cancer
189_ALA THR VAR_044977 -
US - Sporadic cancers
189_ALA VAL VAR_044978 rs121912665
US - A familial cancer not matching LFS
189_ALA VAL 8.3kJPN
chr17:7578283 		rs121912665
- 0.0021 -
190_PRO LEU VAR_005944 rs876660825
US - Sporadic cancers
190_PRO ALA VAR_044979 -
US - Sporadic cancers
190_PRO HIS VAR_044980 -
US - A sporadic cancer
190_PRO ARG VAR_044981 rs876660825
US - Sporadic cancers
190_PRO SER VAR_044982 -
US - Sporadic cancers
190_PRO THR VAR_044983 rs876660254
US - Sporadic cancers
190_PRO LEU ClinVar
chr17:7578280 		rs876660825
Likely pathogenic - not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
191_PRO THR VAR_005945 -
US - Sporadic cancers
191_PRO HIS VAR_044984 rs587778718
US - Sporadic cancers
191_PRO LEU VAR_044985 rs587778718
US - Sporadic cancers
191_PRO ARG VAR_044986 rs587778718
US - Sporadic cancers
191_PRO SER VAR_044987 rs868590738
US - Sporadic cancers
192_GLN ARG VAR_005946 rs730882002
US - Sporadic cancers
192_GLN HIS VAR_044988 -
US - Sporadic cancers
192_GLN LYS VAR_044989 -
US - A sporadic cancer
192_GLN LEU VAR_044990 -
US - Sporadic cancers
192_GLN PRO VAR_044991 -
US - Sporadic cancers
192_GLN TER ClinVar
chr17:7578275 		rs866380588
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
193_HIS ASP VAR_005947 rs876658468
US - Sporadic cancers
193_HIS ARG VAR_005948 rs786201838
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
193_HIS LEU VAR_044992 rs786201838
US - Sporadic cancers
193_HIS ASN VAR_044993 rs876658468
US - Sporadic cancers
193_HIS PRO VAR_044994 rs786201838
US - Sporadic cancers
193_HIS GLN VAR_044995 -
US - Sporadic cancers
193_HIS TYR VAR_044996 rs876658468
US - Sporadic cancers
193_HIS ARG ClinVar
chr17:7578271 		rs786201838
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|not provided|Breast neoplasm|Gastric adenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Brainstem glioma|Ovarian serous cystadenocarcinoma|Acute myeloid leukemia|Hepatocellular carcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Papillary renal cell carcinoma, sporadic|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MeSH:C538614,MedGen:C1336078|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
193_HIS TYR ClinVar
chr17:7578272 		rs876658468
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Small cell lung carcinoma|Neoplasm of brain|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|not provided|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Lung adenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Breast neoplasm|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Malignant tumor of urinary bladder [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C3661900|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980]
193_HIS PRO ClinVar
chr17:7578271 		rs786201838
Pathogenic - Prostate adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Carcinoma of esophagus|Small cell lung carcinoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Acute myeloid leukemia|Brainstem glioma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Neoplasm of brain|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Breast neoplasm|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
193_HIS ASN ClinVar
chr17:7578272 		rs876658468
Likely pathogenic - Lung adenocarcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma, sporadic|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Small cell lung carcinoma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Breast neoplasm|Acute myeloid leukemia|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of brain|Gastric adenocarcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0005082,MedGen:C0007112|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782]
193_HIS GLN ClinVar
chr17:7578270 		rs1597368777
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
194_LEU PRO VAR_005949 rs1057519998
US - Sporadic cancers
194_LEU ARG VAR_005950 rs1057519998
US - Sporadic cancers
194_LEU PHE VAR_044997 rs587780071
US - Sporadic cancers
194_LEU HIS VAR_044998 rs1057519998
US - Sporadic cancers
194_LEU ILE VAR_044999 -
US - Sporadic cancers
194_LEU VAL VAR_045000 -
US - Sporadic cancers
194_LEU PHE ClinVar
chr17:7578269 		rs587780071
Pathogenic/Likely pathogenic - not provided|Breast neoplasm|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Hepatocellular carcinoma|Neoplasm of uterine cervix|Neoplasm of brain|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Glioblastoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
195_ILE THR VAR_005951 rs760043106
US - Sporadic cancers
195_ILE PHE VAR_045001 rs942158624
US - Sporadic cancers
195_ILE ASN VAR_045002 rs760043106
US - Sporadic cancers
195_ILE SER VAR_045003 rs760043106
US - Sporadic cancers
195_ILE VAL VAR_045004 -
US - A sporadic cancer
195_ILE TYR VAR_045806 -
US - A sporadic cancer
195_ILE LEU VAR_047172 -
US - A sporadic cancer
196_ARG GLY VAR_045005 rs397516435
US - Sporadic cancers
196_ARG LEU VAR_045006 rs483352697
US - Sporadic cancers
196_ARG PRO VAR_045007 rs483352697
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
196_ARG GLN VAR_045008 rs483352697
US - Sporadic cancers
196_ARG SER VAR_045009 -
US - A sporadic cancer
196_ARG TER ClinVar
chr17:7578263 		rs397516435
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Neoplasm of ovary|Li-Fraumeni syndrome 1|not specified|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN169374|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
196_ARG PRO ClinVar
chr17:7578262 		rs483352697
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Carcinoma of esophagus|Small cell lung carcinoma|Gastric adenocarcinoma|Glioblastoma|Breast neoplasm|Squamous cell lung carcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Multiple myeloma|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
197_VAL GLU VAR_045010 -
US - A familial cancer not matching LFS
197_VAL GLY VAR_045011 -
US - Sporadic cancers
197_VAL LEU VAR_045012 rs786204041
US - Sporadic cancers
197_VAL MET VAR_045013 rs786204041
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
198_GLU LYS VAR_005952 -
US - Sporadic cancers
198_GLU ASP VAR_045014 -
US - A sporadic cancer
198_GLU GLY VAR_045015 -
US - Sporadic cancers
198_GLU GLN VAR_045016 -
US - Sporadic cancers
198_GLU VAL VAR_045017 -
US - A sporadic cancer
198_GLU TER ClinVar
chr17:7578257 		rs1567551854
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
199_GLY ALA VAR_045018 -
US - A sporadic cancer
199_GLY GLU VAR_045019 -
US - Sporadic cancers
199_GLY ARG VAR_045020 -
US - Sporadic cancers
199_GLY VAL VAR_045021 rs1555525857
US - Sporadic cancers
199_GLY VAL ClinVar
chr17:7578253 		rs1555525857
Likely pathogenic - not provided [MedGen:CN517202]
199_GLY TER ClinVar
chr17:7578254 		rs1567551821
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
200_ASN ASP VAR_045022 -
US - Sporadic cancers
200_ASN ILE VAR_045023 -
US - Sporadic cancers
200_ASN LYS VAR_045024 -
US - A sporadic cancer
200_ASN SER VAR_045025 -
US - Sporadic cancers
200_ASN THR VAR_045026 -
US - A sporadic cancer
200_ASN PRO VAR_045807 -
US - A sporadic cancer
201_LEU PHE VAR_045027 rs730882024
US - Sporadic cancers
201_LEU PRO VAR_045028 -
US - A sporadic cancer
201_LEU SER VAR_045029 -
US - A sporadic cancer
202_ARG CYS VAR_045030 rs587780072
US - Sporadic cancers
202_ARG GLY VAR_045031 rs587780072
US - Sporadic cancers
202_ARG HIS VAR_045032 rs587778719
US - Sporadic cancers
202_ARG LEU VAR_045033 rs587778719
US - Sporadic cancers
202_ARG PRO VAR_045034 -
US - Sporadic cancers
202_ARG SER VAR_045035 -
US - Sporadic cancers
203_VAL ALA VAR_045036 -
US - Sporadic cancers
203_VAL GLU VAR_045037 -
US - Sporadic cancers
203_VAL LEU VAR_045038 -
US - Sporadic cancers
203_VAL MET VAR_045039 rs730882003
US - Sporadic cancers
203_VAL TRP VAR_045808 -
US - A sporadic cancer
204_GLU ALA VAR_045040 -
US - Sporadic cancers
204_GLU ASP VAR_045041 -
US - Sporadic cancers
204_GLU GLY VAR_045042 rs1260903787
US - Sporadic cancers
204_GLU LYS VAR_045043 -
US - Sporadic cancers
204_GLU GLN VAR_045044 -
US - A sporadic cancer
204_GLU VAL VAR_045045 -
US - A sporadic cancer
204_GLU TER ClinVar
chr17:7578239 		rs2073336758
Pathogenic - Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
205_TYR CYS VAR_005953 rs1057520007
US - Sporadic cancers
205_TYR ASP VAR_005954 rs1057520008
US - Sporadic cancers
205_TYR HIS VAR_045046 rs1057520008
US - Sporadic cancers
205_TYR ASN VAR_045047 rs1057520008
US - Sporadic cancers
205_TYR SER VAR_045048 rs1057520007
US - Sporadic cancers
205_TYR PHE VAR_047175 rs1057520007
US - Sporadic cancers
205_TYR TER ClinVar
chr17:7578234 		rs786202222
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
205_TYR CYS ClinVar
chr17:7578235 		rs1057520007
Pathogenic - Hepatocellular carcinoma|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Non-Hodgkin lymphoma|Uterine carcinosarcoma|Glioblastoma|Breast neoplasm|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Multiple myeloma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
205_TYR PHE ClinVar
chr17:7578235 		rs1057520007
Likely pathogenic - Non-Hodgkin lymphoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Multiple myeloma|Hepatocellular carcinoma|Uterine carcinosarcoma|Neoplasm of the large intestine [Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404]
205_TYR SER ClinVar
chr17:7578235 		rs1057520007
Likely pathogenic - Glioblastoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Non-Hodgkin lymphoma|Multiple myeloma|Neoplasm of brain|Squamous cell lung carcinoma|Hepatocellular carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404]
205_TYR HIS ClinVar
chr17:7578236 		rs1057520008
Pathogenic/Likely pathogenic - Pancreatic adenocarcinoma|Multiple myeloma|Neoplasm of brain|Carcinoma of esophagus|Glioblastoma|Lung adenocarcinoma|Non-Hodgkin lymphoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
205_TYR TER ClinVar
chr17:7578234 		rs786202222
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
206_LEU PHE VAR_045049 -
US - A sporadic cancer
206_LEU MET VAR_045050 -
US - A sporadic cancer
207_ASP GLU VAR_045051 -
US - Sporadic cancers
207_ASP GLY VAR_045052 -
US - Sporadic cancers
207_ASP HIS VAR_045053 -
US - Sporadic cancers
207_ASP ASN VAR_045054 rs923100890
US - Sporadic cancers
207_ASP VAL VAR_045055 -
US - A sporadic cancer
207_ASP TYR VAR_045056 -
US - A sporadic cancer
208_ASP GLU VAR_045057 -
US - Sporadic cancers
208_ASP GLY VAR_045058 -
US - Sporadic cancers
208_ASP HIS VAR_045059 -
US - A sporadic cancer
208_ASP ASN VAR_045060 -
US - Sporadic cancers
208_ASP VAL VAR_045061 rs1464727668
US - Sporadic cancers
208_ASP TYR VAR_045062 -
US - A sporadic cancer
208_ASP ILE VAR_045809 -
US - A sporadic cancer
209_ARG ILE VAR_045063 -
US - Sporadic cancers
209_ARG LYS VAR_045064 -
US - Sporadic cancers
209_ARG SER VAR_045065 -
US - A sporadic cancer
209_ARG THR VAR_045066 -
US - Sporadic cancers
210_ASN ASP VAR_045067 -
US - Sporadic cancers
210_ASN HIS VAR_045068 -
US - Sporadic cancers
210_ASN ILE VAR_045069 -
US - A sporadic cancer
210_ASN LYS VAR_045070 -
US - A sporadic cancer
210_ASN SER VAR_045071 -
US - Sporadic cancers
210_ASN THR VAR_045072 -
US - A sporadic cancer
210_ASN TYR VAR_045073 rs1060501200
US - A familial cancer not matching LFS
211_THR ALA VAR_045074 rs1060501198
US - Sporadic cancers
211_THR ILE VAR_045075 -
US - Sporadic cancers
211_THR ASN VAR_045076 -
US - Sporadic cancers
211_THR PRO VAR_045077 -
US - A sporadic cancer
211_THR SER VAR_045078 -
US - Sporadic cancers
212_PHE ILE VAR_045079 rs1064795766
US - Sporadic cancers
212_PHE LEU VAR_045080 -
US - Sporadic cancers
212_PHE SER VAR_045081 -
US - Sporadic cancers
212_PHE VAL VAR_045082 -
US - A sporadic cancer
212_PHE TYR VAR_045083 -
US - Sporadic cancers
213_ARG GLN VAR_005955 rs587778720
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
213_ARG PRO VAR_036506 rs587778720
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
213_ARG GLY VAR_045084 rs397516436
US - Sporadic cancers
213_ARG LEU VAR_045085 rs587778720
US - Sporadic cancers
213_ARG TRP VAR_045086 -
US - Sporadic cancers
213_ARG TER ClinVar
chr17:7578212 		rs397516436
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|not provided|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Colorectal cancer [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500]
213_ARG GLN ClinVar
chr17:7578211 		rs587778720
Pathogenic - not specified|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Glioblastoma|Carcinoma of esophagus|Neoplasm of the large intestine|Adrenal cortex carcinoma|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Pancreatic adenocarcinoma|not provided|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Malignant melanoma of skin|Uterine carcinosarcoma|Prostate adenocarcinoma|Lung adenocarcinoma|Nasopharyngeal neoplasm|Transitional cell carcinoma of the bladder|Breast neoplasm|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Adenoid cystic carcinoma|Poly (ADP-Ribose) polymerase inhibitor response|Lip and oral cavity carcinoma|Breast and/or ovarian cancer|Adrenocortical carcinoma, hereditary [MedGen:CN169374|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C3661900|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:CN322715|MONDO:MONDO:0023644,MedGen:C0220641|MedGen:CN221562|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
213_ARG PRO ClinVar
chr17:7578211 		rs587778720
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Malignant melanoma of skin|Adrenal cortex carcinoma|Nasopharyngeal neoplasm|Neoplasm of the large intestine|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Breast neoplasm|Prostate adenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Hepatocellular carcinoma|Adenoid cystic carcinoma|Papillary renal cell carcinoma type 1|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Glioblastoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Malignant neoplasm of body of uterus|not specified|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
214_HIS ASP VAR_045087 -
US - Sporadic cancers
214_HIS PRO VAR_045088 rs1057519992
US - A sporadic cancer
214_HIS ARG VAR_045089 rs1057519992
US - Sporadic cancers
214_HIS TYR VAR_045090 -
US - Sporadic cancers
214_HIS GLN VAR_047177 rs587781386
US - Sporadic cancers
214_HIS ARG ClinVar
chr17:7578208 		rs1057519992
Likely pathogenic - Papillary renal cell carcinoma type 1|Squamous cell lung carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|B-cell chronic lymphocytic leukemia|Glioblastoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided [Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900]
215_SER CYS VAR_045091 -
US - Sporadic cancers
215_SER GLY VAR_045092 rs886039484
US - Sporadic cancers
215_SER ILE VAR_045093 rs587782177
US - Sporadic cancers
215_SER ASN VAR_045094 rs587782177
US - Sporadic cancers
215_SER ARG VAR_045095 rs1057520001
US - Sporadic cancers
215_SER THR VAR_045096 rs587782177
US - Sporadic cancers
215_SER LYS VAR_045810 -
US - Sporadic cancers
216_VAL MET VAR_005956 rs730882025
US - Sporadic cancers
216_VAL ALA VAR_045097 -
US - Sporadic cancers
216_VAL GLU VAR_045098 rs1057520004
US - Sporadic cancers
216_VAL GLY VAR_045099 rs1057520004
US - Sporadic cancers
216_VAL LEU VAR_045100 rs730882025
US - Sporadic cancers
216_VAL TRP VAR_045811 -
US - A sporadic cancer
216_VAL MET ClinVar
chr17:7578203 		rs730882025
Pathogenic/Likely pathogenic - not provided|Li-Fraumeni syndrome|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Squamous cell lung carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|not specified|Uterine carcinosarcoma|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Adrenocortical carcinoma, hereditary [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MedGen:CN169374|MONDO:MONDO:0006485,MedGen:C0280630|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
217_VAL ALA VAR_045101 -
US - Sporadic cancers
217_VAL GLU VAR_045102 -
US - Sporadic cancers
217_VAL GLY VAR_045103 -
US - Sporadic cancers
217_VAL ILE VAR_045104 -
US - A sporadic cancer
217_VAL LEU VAR_045105 -
US - Sporadic cancers
217_VAL MET VAR_047178 rs35163653
LB/B - -
218_VAL ALA VAR_045106 -
US - Sporadic cancers
218_VAL GLU VAR_045107 -
US - Sporadic cancers
218_VAL GLY VAR_045108 rs1555525743
US - Sporadic cancers
218_VAL LEU VAR_045109 -
US - Sporadic cancers
218_VAL MET VAR_045110 rs878854072
US - Sporadic cancers
218_VAL GLU ClinVar
chr17:7578196 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
219_PRO HIS VAR_045111 -
US - A sporadic cancer
219_PRO LEU VAR_045112 rs1420675064
US - Sporadic cancers
219_PRO ARG VAR_045113 -
US - A sporadic cancer
219_PRO SER VAR_045114 rs879253894
US - A familial cancer not matching LFS
219_PRO THR VAR_045115 -
US - Sporadic cancers
219_PRO CYS VAR_045812 -
US - A sporadic cancer
220_TYR CYS VAR_005957 rs121912666
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
220_TYR HIS VAR_005958 rs530941076
US - Sporadic cancers
220_TYR SER VAR_005959 rs121912666
US - A brain tumor with no family history
220_TYR ASP VAR_045116 rs530941076
US - Sporadic cancers
220_TYR PHE VAR_045117 -
US - A sporadic cancer
220_TYR ASN VAR_045118 rs530941076
US - Sporadic cancers
220_TYR SER ClinVar
chr17:7578190 		rs121912666
Pathogenic - Li-Fraumeni syndrome 1|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Breast neoplasm|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Transitional cell carcinoma of the bladder|Small cell lung carcinoma|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Glioblastoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of brain|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
220_TYR CYS ClinVar
chr17:7578190 		rs121912666
Pathogenic - Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Squamous cell lung carcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Breast neoplasm|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of brain|Small cell lung carcinoma|Glioblastoma|Papillary renal cell carcinoma, sporadic|Neoplasm of the large intestine|Neoplasm of ovary|Li-Fraumeni syndrome 1|Breast carcinoma|B-cell chronic lymphocytic leukemia|Gastric cancer|12 conditions|TP53-related condition|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|12 conditions||MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
220_TYR HIS ClinVar
chr17:7578191 		rs530941076
Pathogenic/Likely pathogenic - Breast neoplasm|Glioblastoma|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Prostate adenocarcinoma|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Neoplasm of brain|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Papillary renal cell carcinoma, sporadic|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Uterine carcinosarcoma|Neoplasm of ovary|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
220_TYR TER ClinVar
chr17:7578189 		rs1567551150
Pathogenic - Neoplasm of ovary [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
221_GLU ALA VAR_045119 -
US - Sporadic cancers
221_GLU ASP VAR_045120 -
US - Sporadic cancers
221_GLU GLY VAR_045121 -
US - Sporadic cancers
221_GLU LYS VAR_045122 rs786201592
US - Sporadic cancers
221_GLU GLN VAR_045123 -
US - Sporadic cancers
221_GLU TER ClinVar
chr17:7578188 		rs786201592
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
222_PRO ALA VAR_045124 -
US - A sporadic cancer
222_PRO LEU VAR_045125 rs146340390
US - Sporadic cancers
222_PRO GLN VAR_045126 -
US - Sporadic cancers
222_PRO ARG VAR_045127 -
US - A sporadic cancer
222_PRO SER VAR_045128 rs1060501203
US - Sporadic cancers
222_PRO THR VAR_045129 -
US - Sporadic cancers
223_PRO HIS VAR_045130 rs138983188
US - Sporadic cancers
223_PRO LEU VAR_045131 rs138983188
US - Sporadic cancers
223_PRO ARG VAR_045132 -
US - A sporadic cancer
223_PRO SER VAR_045133 -
US - A sporadic cancer
223_PRO THR VAR_045134 -
US - A sporadic cancer
223_PRO ALA VAR_047179 -
US - A sporadic cancer
224_GLU ASP VAR_045135 rs267605076
US - Sporadic cancers
224_GLU GLY VAR_045136 -
US - Sporadic cancers
224_GLU LYS VAR_045137 rs1555525707
US - Sporadic cancers
224_GLU VAL VAR_045138 -
US - A sporadic cancer
224_GLU GLU ClinVar
chr17:7578177 		rs267605076
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
225_VAL ALA VAR_045139 -
US - Sporadic cancers
225_VAL ASP VAR_045140 -
US - A sporadic cancer
225_VAL PHE VAR_045141 -
US - Sporadic cancers
225_VAL GLY VAR_045142 -
US - A sporadic cancer
225_VAL ILE VAR_045143 -
US - Sporadic cancers
225_VAL LEU VAR_045144 rs746504075
US - A sporadic cancer
225_VAL LEU 8.3kJPN
chr17:7577608 		rs746504075
- 0.0001 -
226_GLY ALA VAR_045145 -
US - Sporadic cancers
226_GLY SER VAR_045146 -
US - Sporadic cancers
226_GLY VAL VAR_045147 rs970212462
US - Sporadic cancers
226_GLY ASN VAR_045844 -
US - A sporadic cancer
226_GLY ASP VAR_047180 -
US - Sporadic cancers
227_SER CYS VAR_045148 -
US - Sporadic cancers
227_SER PHE VAR_045149 -
US - Sporadic cancers
227_SER PRO VAR_045150 -
US - A sporadic cancer
227_SER THR VAR_045151 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
228_ASP GLU VAR_005960 -
US - Sporadic cancers
228_ASP ALA VAR_045152 -
US - Sporadic cancers
228_ASP GLY VAR_045153 -
US - Sporadic cancers
228_ASP HIS VAR_045154 -
US - Sporadic cancers
228_ASP ASN VAR_045155 -
US - Sporadic cancers
228_ASP VAL VAR_045156 -
US - Sporadic cancers
228_ASP TYR VAR_045157 -
US - Sporadic cancers
228_ASP PRO VAR_045845 -
US - A sporadic cancer
229_CYS GLY VAR_045158 -
US - A sporadic cancer
229_CYS ARG VAR_045159 rs1064794312
US - Sporadic cancers
229_CYS SER VAR_045160 -
US - Sporadic cancers
229_CYS TYR VAR_045161 rs1064793603
US - Sporadic cancers
229_CYS ASN VAR_045846 -
US - A sporadic cancer
230_THR ILE VAR_005961 -
US - Sporadic cancers
230_THR ALA VAR_045162 -
US - Sporadic cancers
230_THR ASN VAR_045163 -
US - Sporadic cancers
230_THR PRO VAR_045164 -
US - Sporadic cancers
230_THR SER VAR_045165 -
US - Sporadic cancers
231_THR ALA VAR_045166 -
US - Sporadic cancers
231_THR ILE VAR_045167 rs1555525564
US - Sporadic cancers
231_THR ASN VAR_045168 -
US - Sporadic cancers
231_THR SER VAR_045169 -
US - Sporadic cancers
231_THR ALA 8.3kJPN
chr17:7577590 		-
- 0.0001 -
232_ILE THR VAR_005962 rs587781589
US - Sporadic cancers
232_ILE PHE VAR_045170 -
US - Sporadic cancers
232_ILE LEU VAR_045171 rs1555525562
US - Sporadic cancers
232_ILE ASN VAR_045172 -
US - Sporadic cancers
232_ILE SER VAR_045173 -
US - Sporadic cancers
232_ILE VAL VAR_045174 -
US - Sporadic cancers
232_ILE THR ClinVar
chr17:7577586 		rs587781589
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|not specified|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900]
232_ILE SER ClinVar
chr17:7577586 		rs587781589
Pathogenic - Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
232_ILE ASN ClinVar
chr17:7577586 		rs587781589
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
233_HIS ASP VAR_045175 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
233_HIS LEU VAR_045176 -
US - Sporadic cancers
233_HIS PRO VAR_045177 -
US - A sporadic cancer
233_HIS GLN VAR_045178 -
US - Sporadic cancers
233_HIS TYR VAR_045179 -
US - Sporadic cancers
233_HIS ARG VAR_047181 rs879254233
US - Sporadic cancers
234_TYR CYS VAR_005963 rs587780073
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
234_TYR HIS VAR_005964 rs864622237
US - Sporadic cancers
234_TYR ASP VAR_045180 rs864622237
US - Sporadic cancers
234_TYR PHE VAR_045181 -
US - A sporadic cancer
234_TYR ASN VAR_045182 rs864622237
US - Sporadic cancers
234_TYR SER VAR_045183 rs587780073
US - Sporadic cancers
234_TYR LYS VAR_045847 -
US - A sporadic cancer
234_TYR GLN VAR_045848 -
US - A sporadic cancer
234_TYR CYS ClinVar
chr17:7577580 		rs587780073
Pathogenic/Likely pathogenic - not provided|Li-Fraumeni syndrome|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome|Breast neoplasm|Carcinoma of esophagus|Adrenal cortex carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
234_TYR ASP ClinVar
chr17:7577581 		rs864622237
Pathogenic - Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Adrenal cortex carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Neoplasm of the large intestine|Hepatocellular carcinoma|Squamous cell lung carcinoma|Small cell lung carcinoma|Glioblastoma|Ovarian serous cystadenocarcinoma [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663]
234_TYR HIS ClinVar
chr17:7577581 		rs864622237
Pathogenic - Gastric adenocarcinoma|Small cell lung carcinoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|Carcinoma of esophagus|Glioblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
234_TYR ASN ClinVar
chr17:7577581 		rs864622237
Pathogenic - Adrenal cortex carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of the large intestine|Small cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
234_TYR TER ClinVar
chr17:7577579 		rs2151021924
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
234_TYR TER ClinVar
chr17:7577579 		-
Pathogenic - TP53-related condition|Li-Fraumeni syndrome [|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
235_ASN HIS VAR_045184 -
US - A sporadic cancer
235_ASN ILE VAR_045185 rs144340710
US - Sporadic cancers
235_ASN SER VAR_045186 rs144340710
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
235_ASN THR VAR_045187 -
US - Sporadic cancers
235_ASN TYR VAR_045188 rs786204145
US - Sporadic cancers
235_ASN MET VAR_045849 -
US - A sporadic cancer
235_ASN ASP VAR_047182 -
US - An adrenocortical carcinoma with no family history
235_ASN SER gnomAD
chr17:7577577 		rs144340710
- 0.000178938 -
236_TYR CYS VAR_045189 rs730882026
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
236_TYR ASP VAR_045190 rs587782289
US - Sporadic cancers
236_TYR PHE VAR_045191 -
US - A sporadic cancer
236_TYR HIS VAR_045192 rs587782289
US - Sporadic cancers
236_TYR ASN VAR_045193 rs587782289
US - Sporadic cancers
236_TYR SER VAR_045194 rs730882026
US - Sporadic cancers
236_TYR HIS ClinVar
chr17:7577575 		rs587782289
Pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
236_TYR TER ClinVar
chr17:7577573 		rs1597365202
Pathogenic - Familial cancer of breast|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
236_TYR TER ClinVar
chr17:7577573 		-
Pathogenic - not provided [MedGen:C3661900]
237_MET ILE VAR_005965 rs587782664
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
237_MET LYS VAR_045195 rs765848205
US - Sporadic cancers
237_MET LEU VAR_045196 -
US - Sporadic cancers
237_MET ARG VAR_045197 rs765848205
US - Sporadic cancers
237_MET THR VAR_045198 -
US - Sporadic cancers
237_MET VAL VAR_045199 rs730882004
US - Sporadic cancers
237_MET ILE ClinVar
chr17:7577570 		rs587782664
Pathogenic - Hereditary cancer-predisposing syndrome|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Breast neoplasm|Pancreatic adenocarcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Neoplasm of ovary|Neoplasm of brain|Brainstem glioma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Breast and/or ovarian cancer|not specified|Li-Fraumeni syndrome 1|not provided|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562|MedGen:CN169374|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
237_MET LYS ClinVar
chr17:7577571 		rs765848205
Pathogenic - Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Brainstem glioma|Lung adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Acute myeloid leukemia [MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
237_MET ILE ClinVar
chr17:7577570 		rs587782664
Pathogenic/Likely pathogenic - Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary|Malignant tumor of urinary bladder|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
237_MET ILE ClinVar
chr17:7577570 		-
Pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
238_CYS PHE VAR_005966 rs730882005
US - Sporadic cancers
238_CYS TYR VAR_005967 rs730882005
US - A familial cancer not matching LFS
238_CYS GLY VAR_045200 rs1057519981
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
238_CYS ARG VAR_045201 rs1057519981
US - Sporadic cancers
238_CYS SER VAR_045202 rs730882005
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
238_CYS TRP VAR_045203 rs193920789
US - Sporadic cancers
238_CYS HIS VAR_045850 -
US - A sporadic cancer
238_CYS TRP ClinVar
chr17:7577567 		rs193920789
Pathogenic/Likely pathogenic - Malignant tumor of prostate|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
238_CYS TYR ClinVar
chr17:7577568 		rs730882005
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Gastric adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Breast neoplasm|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Multiple myeloma|Ovarian serous cystadenocarcinoma|Neoplasm of uterine cervix|not provided|Hepatocellular carcinoma|Lung adenocarcinoma|Neoplasm of brain|B-cell chronic lymphocytic leukemia|Glioblastoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome 1|Gallbladder cancer|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
238_CYS PHE ClinVar
chr17:7577568 		rs730882005
Pathogenic/Likely pathogenic - Breast neoplasm|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Uterine carcinosarcoma|Hepatocellular carcinoma|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Glioblastoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
238_CYS SER ClinVar
chr17:7577568 		rs730882005
Pathogenic/Likely pathogenic - Neoplasm of brain|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Glioblastoma|Uterine carcinosarcoma|Neoplasm of the large intestine|Breast neoplasm|Carcinoma of esophagus|Hepatocellular carcinoma|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
238_CYS ARG ClinVar
chr17:7577569 		rs1057519981
Pathogenic - Glioblastoma|Neoplasm of uterine cervix|B-cell chronic lymphocytic leukemia|Multiple myeloma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Breast neoplasm|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
238_CYS GLY ClinVar
chr17:7577569 		rs1057519981
Pathogenic - Lung adenocarcinoma|Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant neoplasm of body of uterus|Breast neoplasm|Multiple myeloma|Squamous cell carcinoma of the head and neck|Glioblastoma|Gastric adenocarcinoma|Neoplasm of brain|Hepatocellular carcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
238_CYS TYR 8.3kJPN
chr17:7577568 		rs730882005
- 0.0001 -
239_ASN ASP VAR_045204 rs876660807
US - Sporadic cancers
239_ASN HIS VAR_045205 -
US - A sporadic cancer
239_ASN ILE VAR_045206 -
US - A sporadic cancer
239_ASN LYS VAR_045207 rs1057522275
US - Sporadic cancers
239_ASN SER VAR_045208 rs1057519999
US - Sporadic cancers
239_ASN THR VAR_045209 rs1057519999
US - Sporadic cancers
239_ASN TYR VAR_045210 -
US - Sporadic cancers
239_ASN SER ClinVar
chr17:7577565 		rs1057519999
Likely pathogenic - Neoplasm of the large intestine|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Breast neoplasm|Lung adenocarcinoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|not provided [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900]
240_SER ILE VAR_005968 -
US - Sporadic cancers
240_SER CYS VAR_045211 -
US - Sporadic cancers
240_SER GLY VAR_045212 -
US - Sporadic cancers
240_SER ASN VAR_045213 -
US - Sporadic cancers
240_SER PRO VAR_045214 -
US - A sporadic cancer
240_SER ARG VAR_045215 -
US - Sporadic cancers
240_SER THR VAR_045216 -
US - Sporadic cancers
240_SER GLY ClinVar
chr17:7577563 		rs1567549584
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
240_SER ARG ClinVar
chr17:7577563 		rs1567549584
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
240_SER ASN ClinVar
chr17:7577562 		-
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
241_SER PHE VAR_005969 rs28934573
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
241_SER ALA VAR_033036 rs1057520002
US - Sporadic cancers
241_SER CYS VAR_045217 rs28934573
US - Sporadic cancers
241_SER PRO VAR_045218 rs1057520002
US - Sporadic cancers
241_SER TYR VAR_045219 rs28934573
US - Sporadic cancers
241_SER THR VAR_047183 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
241_SER PHE ClinVar
chr17:7577559 		rs28934573
Pathogenic/Likely pathogenic - Bone osteosarcoma|Hepatoblastoma|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Carcinoma of esophagus|Breast neoplasm|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Malignant melanoma of skin|Glioblastoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Malignant neoplasm of body of uterus|Brainstem glioma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma type 1|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Neoplasm of brain|Gallbladder carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|12 conditions|not provided [MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MedGen:C0153574|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0003220,MedGen:C0235782|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions|MedGen:C3661900]
241_SER CYS ClinVar
chr17:7577559 		rs28934573
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|not provided|Glioblastoma|Papillary renal cell carcinoma type 1|Neoplasm of brain|Neoplasm of the large intestine|Lung adenocarcinoma|Non-Hodgkin lymphoma|Papillary renal cell carcinoma, sporadic|Breast neoplasm|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Gallbladder carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0003220,MedGen:C0235782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
241_SER TYR ClinVar
chr17:7577559 		rs28934573
Pathogenic - Carcinoma of esophagus|Glioblastoma|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Non-Hodgkin lymphoma|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma, sporadic|Neoplasm of the large intestine|Brainstem glioma|Gallbladder carcinoma|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Neoplasm of ovary|Li-Fraumeni syndrome|not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
241_SER ALA ClinVar
chr17:7577560 		rs1057520002
Pathogenic - Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of the large intestine|Brainstem glioma|Neoplasm of brain|Gallbladder carcinoma|Malignant melanoma of skin|Non-Hodgkin lymphoma|Malignant neoplasm of body of uterus|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Breast neoplasm|Glioblastoma|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma, sporadic|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0003220,MedGen:C0235782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MedGen:C0153574|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
241_SER THR ClinVar
chr17:7577560 		rs1057520002
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
242_CYS PHE VAR_005970 rs121912655
US - Sporadic cancers
242_CYS GLY VAR_045220 rs1057519982
US - Sporadic cancers
242_CYS ARG VAR_045221 -
US - Sporadic cancers
242_CYS SER VAR_045222 rs121912655
US - Sporadic cancers
242_CYS TRP VAR_045223 rs375874539
US - Sporadic cancers
242_CYS TYR VAR_045224 rs121912655
US - A familial cancer not matching LFS
242_CYS TYR ClinVar
chr17:7577556 		rs121912655
Pathogenic - Li-fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Glioblastoma|Uterine carcinosarcoma|Breast neoplasm|Carcinoma of esophagus|Neoplasm of ovary|Li-Fraumeni syndrome 1|Familial cancer of breast|not provided [MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900]
242_CYS TRP ClinVar
chr17:7577555 		rs375874539
Pathogenic - Squamous cell carcinoma of the head and neck|Glioblastoma|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell lung carcinoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Breast neoplasm|Li-Fraumeni syndrome [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
242_CYS TER ClinVar
chr17:7577555 		rs375874539
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
243_MET ILE VAR_045225 -
US - Sporadic cancers
243_MET LYS VAR_045226 -
US - Sporadic cancers
243_MET LEU VAR_045227 rs786203117
US - Sporadic cancers
243_MET ARG VAR_045228 -
US - Sporadic cancers
243_MET THR VAR_045229 rs730882006
US - Sporadic cancers
243_MET VAL VAR_045230 rs786203117
US - Sporadic cancers
244_GLY CYS VAR_045231 rs1057519989
US - Sporadic cancers
244_GLY ASP VAR_045232 rs1057517983
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
244_GLY GLU VAR_045233 -
US - A sporadic cancer
244_GLY ARG VAR_045234 rs1057519989
US - Sporadic cancers
244_GLY SER VAR_045235 rs1057519989
US - Sporadic cancers
244_GLY VAL VAR_045236 rs985033810
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
244_GLY ALA VAR_047186 rs985033810
US - Sporadic cancers
244_GLY ASP ClinVar
chr17:7577550 		rs985033810
Pathogenic/Likely pathogenic - not provided|Neoplasm of the large intestine|Squamous cell lung carcinoma|Glioblastoma|Small cell lung carcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Lung adenocarcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Neoplasm of brain|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Gastric cancer [MedGen:C3661900|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659]
244_GLY SER ClinVar
chr17:7577551 		rs1057519989
Pathogenic - Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Small cell lung carcinoma|Neoplasm of brain|Uterine carcinosarcoma|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Glioblastoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
244_GLY VAL ClinVar
chr17:7577550 		rs985033810
Likely pathogenic - Neoplasm of brain|Hepatocellular carcinoma|Squamous cell lung carcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|Carcinoma of esophagus|Neoplasm of ovary [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
244_GLY ARG ClinVar
chr17:7577551 		rs1057519989
Likely pathogenic - Gastric adenocarcinoma|Glioblastoma|Neoplasm of brain|Neoplasm of the large intestine|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Small cell lung carcinoma [Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573]
244_GLY ALA ClinVar
chr17:7577550 		rs985033810
Pathogenic - Li-Fraumeni syndrome|Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
245_GLY ALA VAR_005971 rs121912656
US - Sporadic cancers
245_GLY CYS VAR_005972 rs28934575
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
245_GLY ASP VAR_005973 rs121912656
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
245_GLY SER VAR_005974 rs28934575
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
245_GLY VAL VAR_005975 rs121912656
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
245_GLY GLU VAR_045237 -
US - A sporadic cancer
245_GLY ARG VAR_045238 rs28934575
US - Sporadic cancers
245_GLY PHE VAR_045851 -
US - Sporadic cancers
245_GLY HIS VAR_045852 -
US - A sporadic cancer
245_GLY LEU VAR_045853 -
US - Sporadic cancers
245_GLY ASN VAR_045854 -
US - Sporadic cancers
245_GLY CYS ClinVar
chr17:7577548 		rs28934575
Pathogenic - Li-Fraumeni syndrome 1|not provided|Breast neoplasm|Glioblastoma|Brainstem glioma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Lung adenocarcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Hepatocellular carcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast and/or ovarian cancer [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN221562]
245_GLY ASP ClinVar
chr17:7577547 		rs121912656
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Glioblastoma|Brainstem glioma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Gastric adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Neoplasm of ovary|not provided|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
245_GLY SER ClinVar
chr17:7577548 		rs28934575
Pathogenic - Li-fraumeni-like syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Adenocarcinoma|not provided|Li-Fraumeni syndrome|Squamous cell lung carcinoma|Prostate adenocarcinoma|Lung adenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Glioblastoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Neoplasm|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Brainstem glioma|Hepatocellular carcinoma|Neoplasm of the large intestine|Astrocytoma, anaplastic|Atypical teratoid rhabdoid tumor|Neoplasm of ovary|Colorectal cancer|Familial ovarian cancer|Breast carcinoma|12 conditions|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0800290,MedGen:C2675080|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0004970,MedGen:C0001418|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589|Human Phenotype Ontology:HP:0034401,MONDO:MONDO:0020560,MedGen:C1266184,Orphanet:99966|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0016248,MedGen:C5679802,Orphanet:213517|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
245_GLY VAL ClinVar
chr17:7577547 		rs121912656
Pathogenic - Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Glioblastoma|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Carcinoma of esophagus|Prostate adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Brainstem glioma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome 1|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
246_MET ARG VAR_005976 rs587780074
US - Sporadic cancers
246_MET THR VAR_005977 rs587780074
US - Sporadic cancers
246_MET VAL VAR_005978 rs483352695
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
246_MET LEU VAR_044020 rs483352695
US - Sporadic cancers
246_MET ILE VAR_045239 rs1019340046
US - Sporadic cancers
246_MET LYS VAR_045240 -
US - Sporadic cancers
246_MET VAL ClinVar
chr17:7577545 		rs483352695
Pathogenic - not provided|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
246_MET LYS ClinVar
chr17:7577544 		rs587780074
Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
246_MET ILE ClinVar
chr17:7577543 		rs1019340046
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145]
246_MET ILE ClinVar
chr17:7577543 		-
Likely pathogenic - Hereditary cancer-predisposing syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
247_ASN ILE VAR_005980 rs786201762
US - Sporadic cancers
247_ASN ASP VAR_045241 rs1452189221
US - Sporadic cancers
247_ASN LYS VAR_045242 -
US - Sporadic cancers
247_ASN SER VAR_045243 rs786201762
US - Sporadic cancers
247_ASN TYR VAR_045244 -
US - Sporadic cancers
247_ASN PHE VAR_045855 -
US - A sporadic cancer
247_ASN THR VAR_047189 -
US - Sporadic cancers
248_ARG GLY VAR_005981 rs121912651
US - Sporadic cancers
248_ARG LEU VAR_005982 rs11540652
US - Sporadic cancers
248_ARG GLN VAR_005983 rs11540652
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
248_ARG TRP VAR_005984 rs121912651
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
248_ARG CYS VAR_045245 -
US - A sporadic cancer
248_ARG PRO VAR_045246 rs11540652
US - Sporadic cancers
248_ARG TRP ClinVar
chr17:7577539 		rs121912651
Pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Acute myeloid leukemia|Small cell lung carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|B-cell chronic lymphocytic leukemia|Prostate adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Multiple myeloma|Uterine carcinosarcoma|Gastric adenocarcinoma|Neoplasm of brain|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Brainstem glioma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Medulloblastoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm|7 conditions|Neoplasm of ovary|Choroid plexus carcinoma|Gallbladder cancer|Lip and oral cavity carcinoma|Congenital fibrosarcoma|Gastric cancer|Breast and/or ovarian cancer|Malignant lymphoma, large B-cell, diffuse|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|7 conditions|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0023644,MedGen:C0220641|MONDO:MONDO:0004557,MedGen:C0334459|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MedGen:CN221562|MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
248_ARG GLN ClinVar
chr17:7577538 		rs11540652
Pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Sarcoma|Li-Fraumeni syndrome|not provided|Acute myeloid leukemia|Breast neoplasm|Small cell lung carcinoma|Neoplasm|Neoplasm of the large intestine|Multiple myeloma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Brainstem glioma|Medulloblastoma|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Neoplasm of brain|Prostate adenocarcinoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Glioblastoma|Lung adenocarcinoma|11 conditions|Neoplasm of ovary|Lymphoma|Familial cancer of breast|Breast carcinoma|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Ductal carcinoma in situ|Colorectal cancer|Gastric cancer|Malignant tumor of urinary bladder|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100242,MONDO:MONDO:0005089,MedGen:C1261473|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|11 conditions|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0002665,MONDO:MONDO:0005062,MeSH:D008223,MedGen:C0024299,Orphanet:223735|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|Human Phenotype Ontology:HP:0030075,MONDO:MONDO:0005023,MedGen:C0007124|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
248_ARG LEU ClinVar
chr17:7577538 		rs11540652
Pathogenic - Hereditary cancer-predisposing syndrome|Brainstem glioma|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Medulloblastoma|Myelodysplastic syndrome|Glioblastoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Breast neoplasm|Prostate adenocarcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Acute myeloid leukemia|Multiple myeloma|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Small cell lung carcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
248_ARG PRO ClinVar
chr17:7577538 		rs11540652
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Uterine carcinosarcoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Medulloblastoma|Myelodysplastic syndrome|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Brainstem glioma|Breast neoplasm|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Multiple myeloma|Neoplasm of brain|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Acute myeloid leukemia|Lung adenocarcinoma|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
248_ARG GLY ClinVar
chr17:7577539 		rs121912651
Pathogenic/Likely pathogenic - Uterine carcinosarcoma|Pancreatic adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Squamous cell lung carcinoma|Multiple myeloma|Brainstem glioma|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Myelodysplastic syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Neoplasm of brain|Prostate adenocarcinoma|Small cell lung carcinoma|Hepatocellular carcinoma|Acute myeloid leukemia|Gastric adenocarcinoma|Medulloblastoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the skin|Hereditary cancer-predisposing syndrome|Carcinoma of colon [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790]
249_ARG GLY VAR_005985 rs587782082
US - Sporadic cancers
249_ARG SER VAR_005986 rs28934571
US - Sporadic cancers
249_ARG MET VAR_033037 rs587782329
US - Sporadic cancers
249_ARG ILE VAR_045247 -
US - A sporadic cancer
249_ARG LYS VAR_045248 rs587782329
US - Sporadic cancers
249_ARG THR VAR_045249 rs587782329
US - Sporadic cancers
249_ARG TRP VAR_045250 rs587782082
US - Sporadic cancers
249_ARG ASN VAR_045856 -
US - A sporadic cancer
249_ARG SER ClinVar
chr17:7577534 		rs28934571
Pathogenic/Likely pathogenic - Hepatocellular carcinoma|Cervical cancer|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|not provided [Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030079,MONDO:MONDO:0002974,MedGen:C4048328,OMIM:603956|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900]
249_ARG THR ClinVar
chr17:7577535 		rs587782329
Pathogenic - Medulloblastoma|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Breast neoplasm|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Uterine carcinosarcoma|Small cell lung carcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Lung adenocarcinoma|not provided|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
250_PRO ALA VAR_045251 -
US - Sporadic cancers
250_PRO HIS VAR_045252 -
US - Sporadic cancers
250_PRO GLN VAR_045253 -
US - Sporadic cancers
250_PRO SER VAR_045254 -
US - Sporadic cancers
250_PRO THR VAR_045255 -
US - Sporadic cancers
250_PRO PHE VAR_045857 -
US - Sporadic cancers
250_PRO ASN VAR_045858 -
US - Sporadic cancers
250_PRO LEU VAR_047192 rs1064794311
US - Sporadic cancers
251_ILE ASN VAR_005987 -
US - Sporadic cancers
251_ILE SER VAR_033038 rs730882027
US - Sporadic cancers
251_ILE PHE VAR_045256 -
US - Sporadic cancers
251_ILE LEU VAR_045257 rs730882007
US - Sporadic cancers
251_ILE MET VAR_045258 rs878854074
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
251_ILE THR VAR_045259 -
US - Sporadic cancers
251_ILE VAL VAR_045260 -
US - Sporadic cancers
251_ILE LEU ClinVar
chr17:7577530 		rs730882007
Pathogenic/Likely pathogenic - not provided|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Gastric cancer|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
251_ILE PHE ClinVar
chr17:7577530 		rs730882007
Likely pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
252_LEU PRO VAR_005988 rs121912653
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
252_LEU PHE VAR_045261 -
US - Sporadic cancers
252_LEU HIS VAR_045262 -
US - A sporadic cancer
252_LEU ILE VAR_045263 -
US - Sporadic cancers
252_LEU VAL VAR_045264 -
US - A sporadic cancer
253_THR ALA VAR_045265 -
US - Sporadic cancers
253_THR ILE VAR_045266 -
US - Sporadic cancers
253_THR ASN VAR_045267 rs1555525465
US - Sporadic cancers
253_THR SER VAR_045268 -
US - Sporadic cancers
253_THR PRO VAR_047193 -
US - Sporadic cancers
253_THR ALA ClinVar
chr17:7577524 		rs1597364185
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
254_ILE ASN VAR_017908 -
US - Sporadic cancers
254_ILE THR VAR_017909 -
US - Sporadic cancers
254_ILE PHE VAR_045269 -
US - A sporadic cancer
254_ILE LEU VAR_045270 -
US - A sporadic cancer
254_ILE MET VAR_045271 -
US - A sporadic cancer
254_ILE SER VAR_045272 rs1330865474
US - Sporadic cancers
254_ILE VAL VAR_045273 rs746601313
US - Sporadic cancers
254_ILE ASP VAR_045859 -
US - Sporadic cancers
254_ILE ASN ClinVar
chr17:7577520 		rs1330865474
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
254_ILE THR ClinVar
chr17:7577520 		-
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|Acute myeloid leukemia|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
255_ILE PHE VAR_045274 rs1057519995
US - Sporadic cancers
255_ILE MET VAR_045275 -
US - Sporadic cancers
255_ILE ASN VAR_045276 rs876659675
US - Sporadic cancers
255_ILE SER VAR_045277 rs876659675
US - Sporadic cancers
255_ILE THR VAR_045278 rs876659675
US - Sporadic cancers
255_ILE VAL VAR_045279 -
US - Sporadic cancers
256_THR ILE VAR_045280 -
US - A brain tumor with no family history
256_THR LYS VAR_045281 -
US - Sporadic cancers
256_THR PRO VAR_045282 -
US - Sporadic cancers
256_THR SER VAR_045283 -
US - Sporadic cancers
257_LEU PRO VAR_005989 -
US - Sporadic cancers
257_LEU GLN VAR_045284 rs28934577
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
257_LEU ARG VAR_045285 rs28934577
US - Sporadic cancers
257_LEU VAL VAR_045286 -
US - Sporadic cancers
258_GLU ASP VAR_005990 -
US - Sporadic cancers
258_GLU LYS VAR_005991 rs121912652
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
258_GLU ALA VAR_045287 -
US - Sporadic cancers
258_GLU GLY VAR_045288 rs1060501201
US - Sporadic cancers
258_GLU GLN VAR_045289 -
US - Sporadic cancers
258_GLU VAL VAR_045290 -
US - Sporadic cancers
258_GLU LEU VAR_045860 -
US - A sporadic cancer
258_GLU LYS ClinVar
chr17:7577509 		rs121912652
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome 1|not provided|not specified|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
258_GLU TER ClinVar
chr17:7577509 		rs121912652
Pathogenic - Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
259_ASP TYR VAR_033039 -
US - Sporadic cancers
259_ASP GLU VAR_045291 -
US - Sporadic cancers
259_ASP GLY VAR_045292 rs745425759
US - Sporadic cancers
259_ASP HIS VAR_045293 -
US - Sporadic cancers
259_ASP ASN VAR_045294 -
US - Sporadic cancers
259_ASP VAL VAR_045295 -
US - Sporadic cancers
259_ASP PRO VAR_045861 -
US - A sporadic cancer
259_ASP SER VAR_045862 -
US - A sporadic cancer
259_ASP ALA VAR_047194 -
US - A sporadic cancer
259_ASP ALA ClinVar
chr17:7577505 		-
Pathogenic - Malignant lymphoma, large B-cell, diffuse [MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744,Orphanet:544]
260_SER ALA VAR_045296 -
US - Sporadic cancers
260_SER CYS VAR_045297 -
US - Sporadic cancers
260_SER PHE VAR_045298 -
US - Sporadic cancers
260_SER PRO VAR_045299 -
US - Sporadic cancers
260_SER THR VAR_045300 -
US - A sporadic cancer
260_SER TYR VAR_045301 rs876658916
US - Sporadic cancers
261_SER CYS VAR_045302 -
US - A sporadic cancer
261_SER GLY VAR_045303 -
US - Sporadic cancers
261_SER ILE VAR_045304 -
US - Sporadic cancers
261_SER ASN VAR_045305 -
US - A sporadic cancer
261_SER ARG VAR_045306 -
US - Sporadic cancers
262_GLY CYS VAR_045307 rs200579969
US - A sporadic cancer
262_GLY SER VAR_045308 rs200579969
US - Sporadic cancers
262_GLY VAL VAR_045309 rs1131691025
US - Sporadic cancers
262_GLY HIS VAR_045863 -
US - A sporadic cancer
262_GLY ASP VAR_047196 -
US - Sporadic cancers
263_ASN ASP VAR_045310 rs72661119
US - Sporadic cancers
263_ASN HIS VAR_045311 -
US - Sporadic cancers
263_ASN ILE VAR_045312 -
US - Sporadic cancers
263_ASN LYS VAR_045313 -
US - A sporadic cancer
263_ASN SER VAR_045314 -
US - A sporadic cancer
263_ASN ASP gnomAD
chr17:7577151 		rs72661119
- 0.000113647 -
264_LEU ILE VAR_045315 -
US - Sporadic cancers
264_LEU PRO VAR_045316 rs1555525353
US - A sporadic cancer
264_LEU GLN VAR_045317 -
US - A sporadic cancer
264_LEU ARG VAR_045318 -
US - Sporadic cancers
264_LEU VAL VAR_045319 -
US - A sporadic cancer
264_LEU VAL 8.3kJPN
chr17:7577148 		-
- 0.0001 -
265_LEU MET VAR_045320 -
US - Sporadic cancers
265_LEU PRO VAR_045321 rs879253942
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
265_LEU GLN VAR_045322 -
US - Sporadic cancers
265_LEU ARG VAR_047197 -
US - Sporadic cancers
265_LEU PRO ClinVar
chr17:7577144 		rs879253942
Pathogenic/Likely pathogenic - not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Rhabdomyosarcoma [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780]
265_LEU GLN ClinVar
chr17:7577144 		rs879253942
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
266_GLY ALA VAR_045323 -
US - Sporadic cancers
266_GLY GLU VAR_045324 rs193920774
US - Sporadic cancers
266_GLY ARG VAR_045325 rs1057519990
US - Sporadic cancers
266_GLY VAL VAR_045326 rs193920774
US - Sporadic cancers
266_GLY GLU ClinVar
chr17:7577141 		rs193920774
Pathogenic/Likely pathogenic - Malignant tumor of prostate|Neoplasm of the large intestine|Squamous cell lung carcinoma|not provided|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Neoplasm of brain|Uterine carcinosarcoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Breast neoplasm|Small cell lung carcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C3661900|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C0153574|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
266_GLY ARG ClinVar
chr17:7577142 		rs1057519990
Pathogenic - Glioblastoma|Breast neoplasm|Lung adenocarcinoma|Neoplasm of the large intestine|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Neoplasm of brain|Squamous cell carcinoma of the skin|Uterine carcinosarcoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Malignant neoplasm of body of uterus|Hepatocellular carcinoma|Small cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MedGen:C0153574|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
266_GLY ARG ClinVar
chr17:7577142 		rs1057519990
Pathogenic - Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
266_GLY TER ClinVar
chr17:7577142 		rs1057519990
Pathogenic - Lung adenocarcinoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
267_ARG TRP VAR_036507 rs55832599
US - Sporadic cancers
267_ARG GLY VAR_045327 -
US - Sporadic cancers
267_ARG HIS VAR_045328 -
US - A sporadic cancer
267_ARG PRO VAR_045329 rs587780075
US - Sporadic cancers
267_ARG GLN VAR_045330 rs587780075
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
267_ARG TRP ClinVar
chr17:7577139 		rs55832599
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome|not provided|Li-Fraumeni syndrome|11 conditions|Familial cancer of breast|Adrenocortical carcinoma, hereditary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Breast and/or ovarian cancer [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|11 conditions|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|MONDO:MONDO:0023644,MedGen:C0220641|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:CN221562]
267_ARG GLY ClinVar
chr17:7577139 		-
Pathogenic - Hereditary cancer-predisposing syndrome|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
267_ARG ARG ClinVar
chr17:7577137 		-
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
268_ASN HIS VAR_045331 -
US - Sporadic cancers
268_ASN ILE VAR_045332 -
US - Sporadic cancers
268_ASN LYS VAR_045333 -
US - A sporadic cancer
268_ASN SER VAR_045334 -
US - Sporadic cancers
268_ASN TYR VAR_045335 -
US - A sporadic cancer
268_ASN PHE VAR_045864 -
US - A sporadic cancer
269_SER CYS VAR_045336 -
US - Sporadic cancers
269_SER GLY VAR_045337 -
US - Sporadic cancers
269_SER ASN VAR_045338 -
US - Sporadic cancers
269_SER ARG VAR_045339 -
US - Sporadic cancers
269_SER THR VAR_045340 -
US - A sporadic cancer
269_SER ILE VAR_047198 -
US - A sporadic cancer
269_SER ILE ClinVar
chr17:7577132 		-
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
270_PHE CYS VAR_045341 rs1057519986
US - Sporadic cancers
270_PHE ILE VAR_045342 rs1057519988
US - Sporadic cancers
270_PHE LEU VAR_045343 rs1057519987
US - Sporadic cancers
270_PHE SER VAR_045344 rs1057519986
US - Sporadic cancers
270_PHE VAL VAR_045345 rs1057519988
US - Sporadic cancers
270_PHE TYR VAR_045346 -
US - Sporadic cancers
270_PHE SER ClinVar
chr17:7577129 		rs1057519986
Pathogenic/Likely pathogenic - Carcinoma of esophagus|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Breast neoplasm|not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
270_PHE LEU ClinVar
chr17:7577128 		rs1057519987
Likely pathogenic - Breast neoplasm|Carcinoma of esophagus|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723]
270_PHE VAL ClinVar
chr17:7577130 		rs1057519988
Pathogenic - Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Lung adenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Breast neoplasm|Ovarian serous cystadenocarcinoma|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
271_GLU LYS VAR_036508 rs1060501191
US - Sporadic cancers
271_GLU ALA VAR_045347 -
US - Sporadic cancers
271_GLU ASP VAR_045348 -
US - Sporadic cancers
271_GLU GLY VAR_045349 -
US - Sporadic cancers
271_GLU GLN VAR_045350 -
US - Sporadic cancers
271_GLU PRO VAR_045865 -
US - A sporadic cancer
271_GLU ARG VAR_045866 -
US - A sporadic cancer
271_GLU VAL VAR_047199 -
US - An osteosarcoma with no family history
271_GLU TER ClinVar
chr17:7577127 		rs1060501191
Pathogenic - Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
272_VAL LEU VAR_005992 rs121912657
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
272_VAL ALA VAR_045351 -
US - A familial cancer not matching LFS
272_VAL GLU VAR_045352 rs876660333
US - Sporadic cancers
272_VAL GLY VAR_045353 rs876660333
US - Sporadic cancers
272_VAL MET VAR_045354 rs121912657
US - Sporadic cancers
272_VAL LEU ClinVar
chr17:7577124 		rs121912657
Likely pathogenic - Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Breast neoplasm|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Medulloblastoma|Multiple myeloma|Li-Fraumeni syndrome [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
272_VAL MET ClinVar
chr17:7577124 		rs121912657
Pathogenic - Hereditary cancer-predisposing syndrome|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the skin|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Medulloblastoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Li-Fraumeni syndrome|Multiple myeloma|Neoplasm of ovary|Li-Fraumeni syndrome 1|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900]
272_VAL LEU ClinVar
chr17:7577124 		rs121912657
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
273_ARG CYS VAR_005993 rs121913343
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
273_ARG GLY VAR_005994 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
273_ARG HIS VAR_005995 rs28934576
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
273_ARG LEU VAR_036509 rs28934576
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
273_ARG PRO VAR_045355 rs28934576
US - Sporadic cancers
273_ARG GLN VAR_045356 -
US - Sporadic cancers
273_ARG SER VAR_045357 rs121913343
US - A familial cancer not matching LFS
273_ARG ASN VAR_045867 -
US - A sporadic cancer
273_ARG TYR VAR_045868 -
US - A sporadic cancer
273_ARG HIS ClinVar
chr17:7577120 		rs28934576
Pathogenic - Li-Fraumeni syndrome 1|Thyroid gland undifferentiated (anaplastic) carcinoma|Hereditary cancer-predisposing syndrome|not provided|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Multiple myeloma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Brainstem glioma|Transitional cell carcinoma of the bladder|Glioblastoma|Uterine carcinosarcoma|Malignant melanoma of skin|Neoplasm|Carcinoma of esophagus|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Acute myeloid leukemia|Medulloblastoma|Breast neoplasm|Hepatocellular carcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Neoplasm of ovary|Multiple myeloma [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0011779,MONDO:MONDO:0006468,MedGen:C0238461,Orphanet:142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443]; Colorectal cancer|Rhabdomyosarcoma|Malignant tumor of breast|Familial cancer of breast|12 conditions|Gastric cancer|Breast and/or ovarian cancer|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|12 conditions|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MedGen:CN221562|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
273_ARG CYS ClinVar
chr17:7577121 		rs121913343
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome 1|Malignant tumor of prostate|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|not provided|Breast neoplasm|Neoplasm|Hepatocellular carcinoma|Acute myeloid leukemia|Neoplasm of ovary|Adrenocortical carcinoma, hereditary [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807,Orphanet:1331|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
273_ARG PRO ClinVar
chr17:7577120 		rs28934576
Pathogenic - Hereditary cancer-predisposing syndrome|Multiple myeloma|Adrenal cortex carcinoma|Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Breast neoplasm|Medulloblastoma|Uterine carcinosarcoma|B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Malignant melanoma of skin|Neoplasm of brain|Hepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Small cell lung carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Glioblastoma|Brainstem glioma|Acute myeloid leukemia|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MedGen:C0153574|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
273_ARG LEU ClinVar
chr17:7577120 		rs28934576
Pathogenic - Squamous cell carcinoma of the head and neck|Neoplasm of brain|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Lung adenocarcinoma|Neoplasm of the large intestine|Malignant melanoma of skin|Medulloblastoma|Prostate adenocarcinoma|Adrenal cortex carcinoma|Hepatocellular carcinoma|Brainstem glioma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Small cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Multiple myeloma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Uterine carcinosarcoma|Metastatic pancreatic neuroendocrine tumours|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|not provided|Li-Fraumeni syndrome 1|12 conditions [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|MedGen:C0153574|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630||MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions]
273_ARG SER ClinVar
chr17:7577121 		rs121913343
Pathogenic - Lung adenocarcinoma|Glioblastoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Neoplasm of brain|Malignant melanoma of skin|Medulloblastoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Multiple myeloma|Brainstem glioma|Adrenal cortex carcinoma|Prostate adenocarcinoma|Small cell lung carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Gastric adenocarcinoma|Uterine carcinosarcoma|Acute myeloid leukemia|Breast neoplasm|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C0153574|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0010796,MONDO:MONDO:0002911,MedGen:C0677865|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
273_ARG GLY ClinVar
chr17:7577121 		rs121913343
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|12 conditions [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions]
274_VAL PHE VAR_005997 rs1057520005
US - Sporadic cancers
274_VAL ALA VAR_045358 rs1057520006
US - Sporadic cancers
274_VAL ASP VAR_045359 rs1057520006
US - Sporadic cancers
274_VAL ILE VAR_045360 -
US - Sporadic cancers
274_VAL LEU VAR_045361 rs1057520005
US - Sporadic cancers
274_VAL GLY VAR_047200 rs1057520006
US - Sporadic cancers
275_CYS TYR VAR_005998 rs863224451
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
275_CYS TRP VAR_005999 rs1555525279
US - Sporadic cancers
275_CYS PHE VAR_045362 rs863224451
US - Sporadic cancers
275_CYS GLY VAR_045363 -
US - Sporadic cancers
275_CYS ARG VAR_045364 rs1057519983
US - Sporadic cancers
275_CYS SER VAR_045365 rs863224451
US - Sporadic cancers
275_CYS TYR ClinVar
chr17:7577114 		rs863224451
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome|Multiple myeloma|Neoplasm of brain|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|not provided|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Hepatocellular carcinoma|Breast neoplasm|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Glioblastoma|Papillary renal cell carcinoma type 1|Lung adenocarcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Breast carcinoma|Adrenocortical carcinoma, hereditary|Li-Fraumeni syndrome 1|Acute myeloid leukemia [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C3661900|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]
275_CYS PHE ClinVar
chr17:7577114 		rs863224451
Pathogenic - Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Papillary renal cell carcinoma type 1|Breast neoplasm|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Multiple myeloma|Transitional cell carcinoma of the bladder|Carcinoma of esophagus|Hepatocellular carcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|B-cell chronic lymphocytic leukemia|Glioblastoma|Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0002889,Human Phenotype Ontology:HP:0006744,Human Phenotype Ontology:HP:0006759,MONDO:MONDO:0006639,MeSH:D018268,MedGen:C0206686,Orphanet:1501|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
275_CYS TRP ClinVar
chr17:7577113 		rs1555525279
Likely pathogenic - Hereditary cancer-predisposing syndrome|Neoplasm of ovary [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000]
275_CYS TER ClinVar
chr17:7577113 		rs1555525279
Pathogenic - Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
276_ALA ASP VAR_045366 rs786202082
US - Sporadic cancers
276_ALA GLY VAR_045367 rs786202082
US - Sporadic cancers
276_ALA PRO VAR_045368 rs1131691029
US - Sporadic cancers
276_ALA SER VAR_045369 -
US - Sporadic cancers
276_ALA THR VAR_045370 -
US - Sporadic cancers
276_ALA VAL VAR_045371 -
US - Sporadic cancers
276_ALA GLY ClinVar
chr17:7577111 		rs786202082
Pathogenic - Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
277_CYS GLY VAR_006000 rs1064795369
US - Sporadic cancers
277_CYS PHE VAR_045372 rs763098116
US - Sporadic cancers
277_CYS ARG VAR_045373 rs1064795369
US - Sporadic cancers
277_CYS SER VAR_045374 -
US - Sporadic cancers
277_CYS TYR VAR_045375 rs763098116
US - An osteosarcoma with no family history
277_CYS TRP VAR_047201 -
US - Sporadic cancers
277_CYS TER ClinVar
chr17:7577107 		rs1057523347
Pathogenic - not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
278_PRO ALA VAR_006001 rs17849781
US - Sporadic cancers
278_PRO HIS VAR_006002 rs876659802
US - Sporadic cancers
278_PRO LEU VAR_006003 rs876659802
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
278_PRO SER VAR_006004 rs17849781
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
278_PRO THR VAR_006005 rs17849781
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
278_PRO ARG VAR_045376 rs876659802
US - Sporadic cancers
278_PRO PHE VAR_045869 -
US - Sporadic cancers
278_PRO LEU ClinVar
chr17:7577105 		rs876659802
Pathogenic - Hereditary cancer-predisposing syndrome|Neoplasm of brain|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Multiple myeloma|Neoplasm of the large intestine|Breast neoplasm|Carcinoma of esophagus|Squamous cell lung carcinoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Li-Fraumeni syndrome|Gallbladder cancer|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900]
278_PRO SER ClinVar
chr17:7577106 		rs17849781
Pathogenic/Likely pathogenic - Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Lung adenocarcinoma|Neoplasm of brain|Breast neoplasm|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|not provided|Squamous cell lung carcinoma|Multiple myeloma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0006046,MedGen:C0279663|MedGen:C3661900|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
278_PRO THR ClinVar
chr17:7577106 		rs17849781
Pathogenic - Malignant neoplasm of body of uterus|Lung adenocarcinoma|Breast neoplasm|Ovarian serous cystadenocarcinoma|Multiple myeloma|Squamous cell lung carcinoma|Malignant melanoma of skin|Neoplasm of brain|Carcinoma of esophagus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Poly (ADP-Ribose) polymerase inhibitor response|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome [MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:CN322715|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
279_GLY GLU VAR_006006 rs1064793881
US - Sporadic cancers
279_GLY ARG VAR_045377 rs1555525248
US - Sporadic cancers
279_GLY VAL VAR_045378 -
US - Sporadic cancers
279_GLY TRP VAR_045379 -
US - Sporadic cancers
280_ARG LYS VAR_006007 rs121912660
US - A familial cancer not matching LFS
280_ARG ILE VAR_006008 rs121912660
US - Sporadic cancers
280_ARG THR VAR_006009 rs121912660
US - Sporadic cancers
280_ARG GLY VAR_045380 rs753660142
US - Sporadic cancers
280_ARG PRO VAR_045381 -
US - A sporadic cancer
280_ARG SER VAR_045382 -
US - Sporadic cancers
280_ARG THR ClinVar
chr17:7577099 		rs121912660
Pathogenic/Likely pathogenic - Nasopharyngeal carcinoma|Li-Fraumeni syndrome|Small cell lung carcinoma|Neoplasm of uterine cervix|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Acute myeloid leukemia|Transitional cell carcinoma of the bladder|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Gastric adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Nasopharyngeal neoplasm|Carcinoma of esophagus|Neoplasm of brain|Uterine carcinosarcoma|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder [MONDO:MONDO:0015459,MedGen:C2931822,OMIM:607107,Orphanet:150|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980]
281_ASP ALA VAR_006010 rs587781525
US - Sporadic cancers
281_ASP GLU VAR_006011 rs1057519984
US - Sporadic cancers
281_ASP GLY VAR_006012 rs587781525
US - A brain tumor with no family history
281_ASP HIS VAR_006013 rs764146326
US - Sporadic cancers
281_ASP VAL VAR_006014 rs587781525
US - A familial cancer not matching LFS
281_ASP TYR VAR_045383 rs764146326
US - Sporadic cancers
281_ASP ARG VAR_045870 -
US - A sporadic cancer
281_ASP ASN VAR_047202 rs764146326
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
281_ASP GLY ClinVar
chr17:7577096 		rs587781525
Pathogenic - Hereditary cancer-predisposing syndrome|Malignant neoplasm of body of uterus|Neuroblastoma|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell lung carcinoma|Multiple myeloma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Glioblastoma|Squamous cell carcinoma of the skin|Breast neoplasm|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|not provided [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C0153574|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MedGen:C3661900]
281_ASP VAL ClinVar
chr17:7577096 		rs587781525
Pathogenic/Likely pathogenic - not provided|Hereditary cancer-predisposing syndrome|B-cell chronic lymphocytic leukemia|Glioblastoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Multiple myeloma|Gastric adenocarcinoma|Hepatocellular carcinoma|Neuroblastoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma type 1|Squamous cell carcinoma of the head and neck|Breast neoplasm|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MedGen:C0153574|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
281_ASP TYR ClinVar
chr17:7577097 		rs764146326
Pathogenic - Transitional cell carcinoma of the bladder|Breast neoplasm|B-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Papillary renal cell carcinoma type 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Hepatocellular carcinoma|Glioblastoma|Malignant neoplasm of body of uterus|Neuroblastoma|Uterine carcinosarcoma|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MONDO:MONDO:0006485,MedGen:C0280630|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
281_ASP ASN ClinVar
chr17:7577097 		rs764146326
Pathogenic - Multiple myeloma|Hepatocellular carcinoma|Neuroblastoma|B-cell chronic lymphocytic leukemia|Gastric adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the skin|Breast neoplasm|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Papillary renal cell carcinoma type 1|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MedGen:C0153574|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
281_ASP HIS ClinVar
chr17:7577097 		rs764146326
Pathogenic - Malignant melanoma of skin|Uterine carcinosarcoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the skin|Papillary renal cell carcinoma type 1|Gastric adenocarcinoma|Neuroblastoma|Squamous cell carcinoma of the head and neck|Multiple myeloma|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Hepatocellular carcinoma|Gallbladder cancer|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome [Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0005411,MedGen:C0153452|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
281_ASP ALA ClinVar
chr17:7577096 		rs587781525
Likely pathogenic - Uterine carcinosarcoma|Gastric adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Multiple myeloma|Pancreatic adenocarcinoma|Neuroblastoma|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|B-cell chronic lymphocytic leukemia|Malignant melanoma of skin|Glioblastoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Adrenocortical carcinoma, hereditary [MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0008734,MedGen:C1859972,OMIM:202300,Orphanet:1501]
281_ASP GLU ClinVar
chr17:7577095 		rs1057519984
Likely pathogenic - Li-Fraumeni syndrome|Carcinoma of colon|not provided|Neoplasm of ovary|Hereditary cancer-predisposing syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:C3661900|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162]
282_ARG TRP ClinVar
chr17:7577094 		rs28934574
Pathogenic/Likely pathogenic - Li-fraumeni-like syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|not provided|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Non-Hodgkin lymphoma|Malignant melanoma of skin|Carcinoma of esophagus|Lung adenocarcinoma|Glioblastoma|Prostate adenocarcinoma|Neoplasm of brain|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Papillary renal cell carcinoma type 1|Malignant neoplasm of body of uterus|Astrocytoma, anaplastic [MONDO:MONDO:0800290,MedGen:C2675080|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C0153574|MONDO:MONDO:0016684,MedGen:C0334579,Orphanet:251589]; Pleomorphic xanthoastrocytoma|Neoplasm of ovary|Colorectal cancer|Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [Human Phenotype Ontology:HP:0033682,MONDO:MONDO:0016690,MedGen:C0334586,Orphanet:251607|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0858939,MedGen:C5669918]
282_ARG GLY ClinVar
chr17:7577094 		rs28934574
Pathogenic - Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Papillary renal cell carcinoma type 1|Lung adenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Prostate adenocarcinoma|Glioblastoma|Malignant neoplasm of body of uterus|Gastric adenocarcinoma|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Non-Hodgkin lymphoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MedGen:C0153574|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
282_ARG PRO ClinVar
chr17:7577093 		rs730882008
Pathogenic/Likely pathogenic - Neoplasm of brain|Non-Hodgkin lymphoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Papillary renal cell carcinoma type 1|Glioblastoma|Prostate adenocarcinoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Breast neoplasm|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|12 conditions [Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C0153574|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524|12 conditions]
283_ARG CYS VAR_006017 rs149633775
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
283_ARG GLY VAR_006018 -
US - Sporadic cancers
283_ARG HIS VAR_006019 rs371409680
US - A brain tumor with no family history
283_ARG PRO VAR_006020 -
US - Sporadic cancers
283_ARG LEU VAR_045388 -
US - Sporadic cancers
283_ARG SER VAR_045389 rs149633775
US - A sporadic cancer
284_THR ALA VAR_006021 -
US - Sporadic cancers
284_THR PRO VAR_006022 rs1204379654
US - Sporadic cancers
284_THR ILE VAR_045390 rs863224685
US - Sporadic cancers
284_THR LYS VAR_045391 -
US - Sporadic cancers
285_GLU LYS VAR_006023 rs112431538
US - Sporadic cancers
285_GLU GLN VAR_006024 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
285_GLU VAL VAR_006025 rs121912667
US - Sporadic cancers
285_GLU ALA VAR_045392 -
US - A sporadic cancer
285_GLU ASP VAR_045393 -
US - Sporadic cancers
285_GLU GLY VAR_045394 -
US - Sporadic cancers
285_GLU VAL ClinVar
chr17:7577084 		rs121912667
Pathogenic - Adrenocortical carcinoma, pediatric|Choroid plexus carcinoma|Li-Fraumeni syndrome [MedGen:C1859973|Human Phenotype Ontology:HP:0030392,MONDO:MONDO:0016718,MedGen:C0431109,Orphanet:251899|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
285_GLU LYS ClinVar
chr17:7577085 		rs112431538
Pathogenic/Likely pathogenic - not provided|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Poly (ADP-Ribose) polymerase inhibitor response|Li-Fraumeni syndrome 1 [MedGen:C3661900|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN322715|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
285_GLU TER ClinVar
chr17:7577085 		-
Pathogenic - Li-Fraumeni syndrome [MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
286_GLU ALA VAR_006026 rs1057519985
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
286_GLU ASP VAR_006027 -
US - Sporadic cancers
286_GLU GLY VAR_006028 rs1057519985
US - Sporadic cancers
286_GLU LYS VAR_006029 rs786201059
US - Sporadic cancers
286_GLU GLN VAR_006030 rs786201059
US - Sporadic cancers
286_GLU VAL VAR_045395 rs1057519985
US - Sporadic cancers
286_GLU LEU VAR_045871 -
US - A sporadic cancer
286_GLU LYS ClinVar
chr17:7577082 		rs786201059
Pathogenic - Hereditary cancer-predisposing syndrome|Transitional cell carcinoma of the bladder|not provided|Pancreatic adenocarcinoma|Vulvar adenocarcinoma of mammary gland type|Squamous cell carcinoma of the skin|Small cell lung carcinoma|Ovarian serous cystadenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Acute myeloid leukemia|Neoplasm of the large intestine|Gastric adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant melanoma of skin|Neoplasm of brain|Li-Fraumeni syndrome 1 [MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MedGen:C3661900|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C4288013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Gene:553989,MedGen:C1835398,OMIM:151623,Orphanet:524]
286_GLU ALA ClinVar
chr17:7577081 		rs1057519985
Likely pathogenic - Lung adenocarcinoma|Neoplasm of brain|Neoplasm of the large intestine|Hepatocellular carcinoma|Acute myeloid leukemia|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Breast neoplasm|Malignant melanoma of skin|Carcinoma of esophagus|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Small cell lung carcinoma [Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0030692,MONDO:MONDO:0021211,MeSH:D001932,MedGen:C0006118|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0006046,MedGen:C0279663|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:70573]
286_GLU TER ClinVar
chr17:7577082 		rs786201059
Pathogenic - Neoplasm of ovary|Li-Fraumeni syndrome [Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524]
287_GLU ASP VAR_045396 rs748891343
US - Sporadic cancers
287_GLU GLY VAR_045397 -
US - Sporadic cancers
287_GLU LYS VAR_045398 rs587782006
US - Sporadic cancers
287_GLU VAL VAR_045399 -
US - Sporadic cancers
287_GLU ALA VAR_047204 -
US - A sporadic cancer
288_ASN ASP VAR_045400 -
US - A sporadic cancer
288_ASN LYS VAR_045401 -
US - Sporadic cancers
288_ASN SER VAR_045402 -
US - Sporadic cancers
288_ASN THR VAR_045403 -
US - Sporadic cancers
288_ASN TYR VAR_045404 -
US - Sporadic cancers
289_LEU PHE VAR_045405 -
US - Sporadic cancers
289_LEU HIS VAR_045406 -
US - Sporadic cancers
289_LEU PRO VAR_045407 -
US - Sporadic cancers
289_LEU ARG VAR_045408 -
US - A sporadic cancer
289_LEU VAL VAR_045409 rs1555525154
US - Sporadic cancers
290_ARG CYS VAR_045410 rs770374782
US - Sporadic cancers
290_ARG HIS VAR_045411 rs55819519
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
290_ARG LEU VAR_045412 -
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
290_ARG HIS gnomAD
chr17:7577069 		rs55819519
- 0.000155081 -
291_LYS GLU VAR_045413 rs1555525126
US - Sporadic cancers
291_LYS MET VAR_045414 -
US - Sporadic cancers
291_LYS ASN VAR_045415 rs372613518
US - Sporadic cancers
291_LYS ARG VAR_045416 rs781490101
US - Sporadic cancers
291_LYS THR VAR_045417 -
US - Sporadic cancers
291_LYS GLN VAR_047205 -
US - Sporadic cancers
292_LYS ILE VAR_015819 rs121912663
LP/P - Li-Fraumeni syndrome (LFS) [MIM:151623]
292_LYS GLU VAR_045418 -
US - Sporadic cancers
292_LYS ASN VAR_045419 -
US - Sporadic cancers
292_LYS GLN VAR_045420 -
US - A sporadic cancer
292_LYS ARG VAR_045421 rs121912663
US - Sporadic cancers
292_LYS THR VAR_045422 -
US - Sporadic cancers
292_LYS GLY VAR_045872 -
US - A sporadic cancer
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.