PDB ID 1GZH CHAIN A
Protein name CELLULAR TUMOR ANTIGEN P53
Uniprot Accession P04637
The number of similar proteins 159
The number of binding states 10
The number of binding partners 8
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
 Format:  
Molecule viewer
#binding
partners
  5
  4
  3
  2
  1
  0
Sequence information
1   SSVPSQKTYQ   GSYGFRLGFL   HSGTAKSVTC   TYSPALNKMF   CQLAKTCPVQ   50
51   LWVDSTPPPG   TRVRAMAIYK   QSQHMTEVVR   RCPHHERCSD   SDGLAPPQHL   100
101   IRVEGNLRVE   YLDDRNTFRH   SVVVPYEPPE   VGSECTTIHY   NYMCNSSCMG   150
151   GMNRRPILTI   ITLEDSSGNL   LGRNSFEVRV   CACPGRDRRT   EEENLRKK   200
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
95_SER PHE VAR_044643 - Unclassified Sporadic cancers
95_SER THR VAR_044644 - Unclassified A sporadic cancer
96_SER CYS VAR_044645 - Unclassified A sporadic cancer
96_SER PHE VAR_044646 - Unclassified Sporadic cancers
96_SER PRO VAR_044647 - Unclassified A sporadic cancer
97_VAL ALA VAR_044648 - Unclassified A sporadic cancer
97_VAL PHE VAR_044649 - Unclassified A sporadic cancer
97_VAL ILE VAR_044650 rs730882023 Unclassified Familial cancer not matching LFS
98_PRO LEU VAR_044651 rs1245723119 Unclassified Sporadic cancers
98_PRO SER VAR_044652 - Unclassified Sporadic cancers
99_SER PHE VAR_044653 - Unclassified Sporadic cancers
99_SER PRO VAR_044654 - Unclassified A sporadic cancer
100_GLN ARG VAR_044655 - Unclassified A sporadic cancer
101_LYS ASN VAR_044656 rs878854069 Unclassified A sporadic cancer
101_LYS ARG VAR_044657 - Unclassified Sporadic cancers
102_THR ILE VAR_044658 rs786202717 Unclassified Sporadic cancers
104_GLN TER ClinVar
chr17:7579377
- Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
104_GLN HIS VAR_044659 - Unclassified Sporadic cancers
104_GLN LEU VAR_044660 - Unclassified A sporadic cancer
105_GLY SER ClinVar
chr17:7579374
rs1060501195 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
105_GLY CYS VAR_044661 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
105_GLY ASP VAR_044662 rs587781504 Unclassified Sporadic cancers
105_GLY ARG VAR_044663 rs1060501195 Unclassified Sporadic cancers
105_GLY VAL VAR_044665 - Unclassified Sporadic cancers
106_SER GLY VAR_044666 - Unclassified A sporadic cancer
106_SER ARG VAR_044667 - Unclassified A familial cancer not matching LFS
107_TYR TER ClinVar
chr17:7579366
rs770776262 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
107_TYR CYS VAR_044668 rs587782447 Unclassified A sporadic cancer
107_TYR ASP VAR_044669 - Unclassified Sporadic cancers
107_TYR HIS VAR_044670 rs368771578 Unclassified A sporadic cancer
108_GLY ASP VAR_044671 - Unclassified A sporadic cancer
108_GLY SER VAR_044672 rs587782461 Unclassified Sporadic cancers
109_PHE VAL ClinVar
chr17:7579362
rs1057523496 Likely pathogenic not provided [MedGen:CN517202]
109_PHE CYS VAR_044673 - Unclassified Sporadic cancers
109_PHE LEU VAR_044674 - Unclassified A sporadic cancer
109_PHE SER VAR_044675 rs1064796722 Unclassified Sporadic cancers
110_ARG PRO ClinVar
chr17:7579358
rs11540654 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
110_ARG LEU ClinVar
chr17:7579358
rs11540654 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
110_ARG CYS VAR_005860 rs587781371 Unclassified Sporadic cancers
110_ARG GLY VAR_044676 - Unclassified A sporadic cancer
110_ARG HIS VAR_044677 rs11540654 Unclassified Sporadic cancers
110_ARG SER VAR_044678 rs587781371 Unclassified A sporadic cancer
111_LEU ARG ClinVar
chr17:7579355
rs1057519997 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
111_LEU GLN ClinVar
chr17:7579355
rs1057519997 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
111_LEU MET VAR_044679 - Unclassified A sporadic cancer
111_LEU PRO VAR_044680 rs1057519997 Unclassified Sporadic cancers
112_GLY ASP VAR_044683 - Unclassified Sporadic cancers
112_GLY SER VAR_044684 rs1423803759 Unclassified Sporadic cancers
113_PHE CYS VAR_005863 - Unclassified Sporadic cancers
113_PHE VAL VAR_033033 rs587781642 Unclassified Sporadic cancers
113_PHE ILE VAR_044685 - Unclassified A sporadic cancer
113_PHE LEU VAR_044686 - Unclassified Sporadic cancers
113_PHE SER VAR_044687 - Unclassified Sporadic cancers
113_PHE GLY VAR_045788 - Unclassified A sporadic cancer
115_HIS TYR VAR_044688 - Unclassified Sporadic cancers
116_SER CYS VAR_044689 - Unclassified Sporadic cancers
116_SER PHE VAR_044690 - Unclassified A sporadic cancer
116_SER PRO VAR_044691 - Unclassified A sporadic cancer
117_GLY GLU VAR_044692 rs755238756 Unclassified Sporadic cancers
117_GLY ARG VAR_044693 - Unclassified Sporadic cancers
118_THR ALA VAR_044694 - Unclassified A sporadic cancer
118_THR ILE VAR_044695 rs1064794141 Unclassified Sporadic cancers
118_THR ARG VAR_044696 - Unclassified A sporadic cancer
119_ALA ASP VAR_044697 - Unclassified A sporadic cancer
119_ALA THR VAR_044698 - Unclassified A sporadic cancer
120_LYS TER ClinVar
chr17:7579329
rs121912658 Pathogenic Li-Fraumeni-like syndrome [MedGen:C2675080]
120_LYS GLU VAR_044699 rs121912658 Unclassified Sporadic cancers
120_LYS MET VAR_044700 - Unclassified Sporadic cancers
120_LYS GLN VAR_044701 rs121912658 Unclassified A sporadic cancer
120_LYS ARG VAR_044702 - Unclassified Sporadic cancers
121_SER PHE VAR_044703 - Unclassified Sporadic cancers
122_VAL LEU VAR_044704 - Unclassified A sporadic cancer
123_THR ILE VAR_044705 - Unclassified A sporadic cancer
123_THR ASN VAR_044706 - Unclassified A sporadic cancer
124_CYS TER ClinVar
chr17:7579315
rs1555526478 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
124_CYS GLY VAR_044707 rs730881997 Unclassified A sporadic cancer
124_CYS ARG VAR_044708 - Unclassified Sporadic cancers
124_CYS SER VAR_044709 rs730881997 Unclassified Sporadic cancers
124_CYS TRP VAR_044710 - Unclassified A sporadic cancer
124_CYS TYR VAR_044711 - Unclassified A sporadic cancer
125_THR PRO ClinVar
chr17:7579314
rs1057520003 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
125_THR MET VAR_005864 rs786201057 Unclassified Sporadic cancers
125_THR ALA VAR_044712 - Unclassified A sporadic cancer
125_THR LYS VAR_044713 rs786201057 Unclassified Sporadic cancers
125_THR ARG VAR_044715 rs786201057 Unclassified Sporadic cancers
126_TYR TER ClinVar
chr17:7578552
- Likely pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
126_TYR ASP VAR_005865 rs886039483 Unclassified Sporadic cancers
126_TYR ASN VAR_005866 rs886039483 Unclassified Sporadic cancers
126_TYR CYS VAR_044716 - Unclassified A familial cancer not matching LFS
126_TYR PHE VAR_044717 - Unclassified A sporadic cancer
126_TYR HIS VAR_044718 - Unclassified Sporadic cancers
126_TYR SER VAR_044719 - Unclassified Sporadic cancers
126_TYR GLY VAR_045789 - Unclassified A sporadic cancer
127_SER PHE VAR_005867 rs730881999 Unclassified Sporadic cancers
127_SER CYS VAR_044720 rs730881999 Unclassified A sporadic cancer
127_SER PRO VAR_044721 - Unclassified Sporadic cancers
127_SER THR VAR_044722 - Unclassified Sporadic cancers
127_SER TYR VAR_044723 - Unclassified Sporadic cancers
128_PRO SER VAR_005868 - Unclassified Sporadic cancers
128_PRO ALA VAR_044724 - Unclassified Sporadic cancers
128_PRO LEU VAR_044725 - Unclassified Sporadic cancers
128_PRO ARG VAR_044726 - Unclassified Sporadic cancers
129_ALA ASP VAR_005869 - Unclassified Sporadic cancers
129_ALA GLY VAR_044727 - Unclassified A sporadic cancer
129_ALA THR VAR_044728 rs1438095083 Unclassified Sporadic cancers
129_ALA VAL VAR_044729 rs137852792 Unclassified Sporadic cancers
130_LEU PRO ClinVar
chr17:7578541
rs1131691013 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
130_LEU ARG VAR_005870 - Unclassified Sporadic cancers
130_LEU PHE VAR_044730 rs863224683 Unclassified Sporadic cancers
130_LEU HIS VAR_044731 - Unclassified Sporadic cancers
130_LEU ILE VAR_044732 - Unclassified A sporadic cancer
130_LEU VAL VAR_044734 rs863224683 Unclassified Sporadic cancers
131_ASN TYR ClinVar
chr17:7578539
rs587782160 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
131_ASN ILE ClinVar
chr17:7578538
rs1131691037 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
131_ASN SER VAR_005871 - Unclassified Sporadic cancers
131_ASN LYS VAR_005872 rs769270327 Unclassified Sporadic cancers
131_ASN ASP VAR_044735 - Unclassified A sporadic cancer
131_ASN HIS VAR_044736 - Unclassified Sporadic cancers
131_ASN THR VAR_044738 - Unclassified A sporadic cancer
132_LYS ASN ClinVar
chr17:7578534
rs866775781 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
132_LYS THR ClinVar
chr17:7578535
rs1057519996 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
132_LYS GLN ClinVar
chr17:7578536
rs747342068 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
132_LYS MET VAR_005873 rs1057519996 Unclassified Sporadic cancers
132_LYS GLU VAR_044740 rs747342068 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
132_LYS ARG VAR_044742 rs1057519996 Unclassified Sporadic cancers
132_LYS LEU VAR_045790 - Unclassified A sporadic cancer
132_LYS TRP VAR_045791 - Unclassified A sporadic cancer
133_MET THR ClinVar
chr17:7578532
rs28934873 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]
133_MET ILE VAR_044744 rs1064795139 Unclassified Sporadic cancers
133_MET LYS VAR_044745 - Unclassified Sporadic cancers
133_MET LEU VAR_044746 - Unclassified Sporadic cancers
133_MET ARG VAR_044747 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
133_MET VAL VAR_044748 rs1057280220 Unclassified Sporadic cancers
134_PHE CYS ClinVar
chr17:7578529
rs780442292 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not provided [MedGen:CN517202]
134_PHE LEU VAR_036504 rs267605077 Unclassified Sporadic cancers
134_PHE ILE VAR_044750 - Unclassified Sporadic cancers
134_PHE SER VAR_044751 - Unclassified Sporadic cancers
134_PHE VAL VAR_044752 - Unclassified Sporadic cancers
135_CYS TYR ClinVar
chr17:7578526
rs587781991 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
135_CYS PHE ClinVar
chr17:7578526
rs587781991 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
135_CYS ARG ClinVar
chr17:7578527
rs1057519975 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
135_CYS SER ClinVar
chr17:7578527
rs1057519975 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
135_CYS GLY VAR_044753 rs1057519975 Unclassified Sporadic cancers
135_CYS TRP VAR_044755 rs1057519976 Unclassified Sporadic cancers
135_CYS THR VAR_045792 - Unclassified A sporadic cancer
136_GLN GLU VAR_005878 - Unclassified Sporadic cancers
136_GLN LYS VAR_005879 - Unclassified A sporadic cancer
136_GLN HIS VAR_044757 rs758781593 Unclassified Sporadic cancers
136_GLN PRO VAR_044758 - Unclassified Sporadic cancers
136_GLN ARG VAR_044759 - Unclassified Sporadic cancers
137_LEU GLN VAR_005880 - Unclassified Sporadic cancers
137_LEU MET VAR_044760 - Unclassified Sporadic cancers
137_LEU PRO VAR_044761 - Unclassified Sporadic cancers
137_LEU VAL VAR_044762 - Unclassified Sporadic cancers
138_ALA PRO ClinVar
chr17:7578518
rs28934875 Likely pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]
138_ALA VAL VAR_033034 rs750600586 Unclassified Sporadic cancers
138_ALA ASP VAR_044763 - Unclassified Sporadic cancers
138_ALA SER VAR_044764 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
138_ALA THR VAR_044765 - Unclassified Sporadic cancers
139_LYS ASN VAR_005882 - Unclassified Sporadic cancers
139_LYS GLU VAR_044766 rs1212996409 Unclassified Sporadic cancers
139_LYS GLN VAR_044767 - Unclassified Sporadic cancers
139_LYS ARG VAR_044768 - Unclassified Sporadic cancers
139_LYS THR VAR_044769 - Unclassified Sporadic cancers
140_THR ALA VAR_044770 - Unclassified Sporadic cancers
140_THR ILE VAR_044771 - Unclassified Sporadic cancers
140_THR ASN VAR_044772 rs786202561 Unclassified A sporadic cancer
140_THR PRO VAR_044773 - Unclassified A sporadic cancer
140_THR SER VAR_044774 - Unclassified Sporadic cancers
141_CYS TYR ClinVar
chr17:7578508
rs587781288 Pathogenic/Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS ARG ClinVar
chr17:7578509
rs1057519978 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS GLY ClinVar
chr17:7578509
rs1057519978 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS SER ClinVar
chr17:7578509
rs1057519978 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS PHE ClinVar
chr17:7578508
rs587781288 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS TRP VAR_044777 rs1057519977 Unclassified Sporadic cancers
141_CYS ALA VAR_045793 - Unclassified A sporadic cancer
142_PRO ALA VAR_044778 - Unclassified Sporadic cancers
142_PRO HIS VAR_044779 - Unclassified Sporadic cancers
142_PRO LEU VAR_044780 rs779196500 Unclassified Sporadic cancers
142_PRO ARG VAR_044781 - Unclassified A sporadic cancer
142_PRO SER VAR_044782 - Unclassified Sporadic cancers
142_PRO THR VAR_044783 - Unclassified Sporadic cancers
142_PRO PHE VAR_045794 - Unclassified Sporadic cancers
143_VAL ALA VAR_005887 - Unclassified Sporadic cancers
143_VAL GLU VAR_044784 - Unclassified Sporadic cancers
143_VAL GLY VAR_044785 - Unclassified Sporadic cancers
143_VAL LEU VAR_044786 rs587782620 Unclassified Sporadic cancers
143_VAL MET VAR_044787 rs587782620 Unclassified Sporadic cancers
144_GLN LEU ClinVar
chr17:7578499
rs786203071 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
144_GLN HIS ClinVar
chr17:7578498
rs786201419 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
144_GLN PRO VAR_005888 rs786203071 Unclassified Sporadic cancers
144_GLN LYS VAR_044789 - Unclassified Sporadic cancers
144_GLN ARG VAR_044791 - Unclassified Sporadic cancers
145_LEU PRO VAR_005889 rs587782197 Unclassified Sporadic cancers
145_LEU GLN VAR_005890 - Unclassified Sporadic cancers
145_LEU MET VAR_044792 - Unclassified Sporadic cancers
145_LEU ARG VAR_044793 - Unclassified Sporadic cancers
145_LEU VAL VAR_044794 - Unclassified Sporadic cancers
146_TRP TER ClinVar
chr17:7578492
rs1131691026 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
146_TRP CYS VAR_044795 - Unclassified A sporadic cancer
146_TRP GLY VAR_044796 rs786203064 Unclassified Sporadic cancers
146_TRP LEU VAR_044797 - Unclassified Sporadic cancers
146_TRP ARG VAR_044798 - Unclassified Sporadic cancers
146_TRP SER VAR_044799 - Unclassified Sporadic cancers
147_VAL ASP VAR_005891 - Unclassified Sporadic cancers
147_VAL GLY VAR_005892 rs1453167097 Unclassified Sporadic cancers
147_VAL ALA VAR_044800 - Unclassified Sporadic cancers
147_VAL GLU VAR_044801 - Unclassified Sporadic cancers
147_VAL PHE VAR_044802 - Unclassified A sporadic cancer
147_VAL ILE VAR_044803 - Unclassified Sporadic cancers
148_ASP ALA VAR_044804 rs1046611742 Unclassified A sporadic cancer
148_ASP GLU VAR_044805 - Unclassified Sporadic cancers
148_ASP GLY VAR_044806 - Unclassified A sporadic cancer
148_ASP ASN VAR_044807 - Unclassified Sporadic cancers
148_ASP VAL VAR_044808 - Unclassified Sporadic cancers
148_ASP TYR VAR_044809 rs1131691007 Unclassified Sporadic cancers
149_SER PRO VAR_005893 - Unclassified Sporadic cancers
149_SER PHE VAR_044810 - Unclassified Sporadic cancers
149_SER THR VAR_044811 - Unclassified Sporadic cancers
150_THR ALA VAR_044812 - Unclassified A sporadic cancer
150_THR ILE VAR_044813 - Unclassified Sporadic cancers
150_THR LYS VAR_044814 - Unclassified Sporadic cancers
150_THR ASN VAR_044815 - Unclassified A sporadic cancer
150_THR PRO VAR_044816 - Unclassified A sporadic cancer
150_THR ARG VAR_044817 - Unclassified A sporadic cancer
151_PRO THR ClinVar
chr17:7578479
rs28934874 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
151_PRO SER ClinVar
chr17:7578479
rs28934874 Pathogenic/Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
151_PRO ALA VAR_005894 rs28934874 Unclassified Sporadic cancers
151_PRO HIS VAR_044818 rs1057520000 Unclassified Sporadic cancers
151_PRO LEU VAR_044819 - Unclassified Sporadic cancers
151_PRO ARG VAR_044820 rs1057520000 Unclassified Sporadic cancers
152_PRO LEU ClinVar
chr17:7578475
rs587782705 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
152_PRO SER VAR_005898 rs767328513 Unclassified Sporadic cancers
152_PRO ALA VAR_044821 - Unclassified Sporadic cancers
152_PRO GLN VAR_044822 - Unclassified Sporadic cancers
152_PRO ARG VAR_044823 - Unclassified Sporadic cancers
152_PRO THR VAR_044824 - Unclassified Sporadic cancers
153_PRO THR VAR_005899 - Unclassified Sporadic cancers
153_PRO ALA VAR_044825 - Unclassified Sporadic cancers
153_PRO HIS VAR_044826 - Unclassified A sporadic cancer
153_PRO LEU VAR_044827 - Unclassified Sporadic cancers
153_PRO ARG VAR_044828 - Unclassified A sporadic cancer
153_PRO SER VAR_044829 rs1064795860 Unclassified Sporadic cancers
153_PRO PHE VAR_045795 - Unclassified A sporadic cancer
154_GLY VAL VAR_005900 rs762846821 Unclassified A brain tumor with no family history
154_GLY ALA VAR_044830 - Unclassified Sporadic cancers
154_GLY CYS VAR_044831 - Unclassified A sporadic cancer
154_GLY ASP VAR_044832 rs762846821 Unclassified Sporadic cancers
154_GLY SER VAR_044833 rs137852789 Unclassified Sporadic cancers
154_GLY ILE VAR_045796 - Unclassified Sporadic cancers
155_THR ALA VAR_005901 rs772683278 Unclassified Sporadic cancers
155_THR ILE VAR_044834 - Unclassified Sporadic cancers
155_THR MET VAR_044835 - Unclassified A sporadic cancer
155_THR ASN VAR_044836 rs786202752 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
155_THR PRO VAR_044837 - Unclassified Sporadic cancers
155_THR SER VAR_044838 rs786202752 Unclassified Sporadic cancers
156_ARG PRO VAR_005902 - Unclassified Sporadic cancers
156_ARG CYS VAR_044839 rs563378859 Unclassified Sporadic cancers
156_ARG GLY VAR_044840 - Unclassified Sporadic cancers
156_ARG HIS VAR_044841 rs371524413 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
156_ARG LEU VAR_044842 - Unclassified Sporadic cancers
156_ARG SER VAR_044843 - Unclassified Sporadic cancers
157_VAL PHE ClinVar
chr17:7578461
rs121912654 Likely pathogenic Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
157_VAL ALA ClinVar
chr17:7578460
rs1131691023 Likely pathogenic Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
157_VAL ASP ClinVar
chr17:7578460
rs1131691023 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
157_VAL ASP VAR_005903 - Unclassified Sporadic cancers
157_VAL ILE VAR_012977 rs121912654 Unclassified Sporadic cancers
157_VAL GLY VAR_044845 - Unclassified Sporadic cancers
157_VAL LEU VAR_044846 - Unclassified Sporadic cancers
158_ARG HIS ClinVar
chr17:7578457
rs587782144 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
158_ARG LEU ClinVar
chr17:7578457
rs587782144 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
158_ARG CYS VAR_005905 rs587780068 Unclassified Sporadic cancers
158_ARG GLY VAR_005906 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
158_ARG LEU VAR_044847 - Unclassified Sporadic cancers
158_ARG PRO VAR_044848 rs587782144 Unclassified Sporadic cancers
158_ARG GLN VAR_044849 - Unclassified A sporadic cancer
158_ARG SER VAR_044850 - Unclassified Sporadic cancers
158_ARG PHE VAR_045797 - Unclassified A sporadic cancer
158_ARG TYR VAR_045798 - Unclassified A sporadic cancer
159_ALA ASP VAR_044851 - Unclassified Sporadic cancers
159_ALA GLY VAR_044852 - Unclassified Sporadic cancers
159_ALA PRO VAR_044853 rs730882000 Unclassified Sporadic cancers
159_ALA SER VAR_044854 - Unclassified Sporadic cancers
159_ALA THR VAR_044855 rs730882000 Unclassified Sporadic cancers
159_ALA VAL VAR_044856 - Unclassified Sporadic cancers
159_ALA PHE VAR_045799 rs730882022 Unclassified A sporadic cancer
160_MET ILE VAR_005908 rs772354334 Unclassified Sporadic cancers
160_MET LYS VAR_044857 - Unclassified Sporadic cancers
160_MET THR VAR_044858 - Unclassified A sporadic cancer
160_MET VAL VAR_044859 rs377274728 Unclassified Sporadic cancers
161_ALA SER VAR_005909 - Unclassified Sporadic cancers
161_ALA ASP VAR_044860 rs1064795691 Unclassified Sporadic cancers
161_ALA GLY VAR_044861 - Unclassified Sporadic cancers
161_ALA PRO VAR_044862 - Unclassified Sporadic cancers
161_ALA THR VAR_044863 rs193920817 Unclassified Sporadic cancers
161_ALA VAL VAR_044864 - Unclassified Sporadic cancers
161_ALA PHE VAR_045800 - Unclassified A sporadic cancer
162_ILE SER VAR_005910 rs587780069 Unclassified Sporadic cancers
162_ILE VAL VAR_005911 - Unclassified Sporadic cancers
162_ILE PHE VAR_044865 - Unclassified Sporadic cancers
162_ILE MET VAR_044866 - Unclassified Sporadic cancers
162_ILE ASN VAR_044867 - Unclassified A breast cancer with no family history
162_ILE THR VAR_044868 - Unclassified Sporadic cancers
163_TYR CYS ClinVar
chr17:7578442
rs148924904 Pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
163_TYR ASP ClinVar
chr17:7578443
rs786203436 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
163_TYR HIS ClinVar
chr17:7578443
rs786203436 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
163_TYR PHE VAR_044870 - Unclassified A sporadic cancer
163_TYR ASN VAR_044871 rs786203436 Unclassified Sporadic cancers
163_TYR SER VAR_044872 - Unclassified Sporadic cancers
164_LYS ASN VAR_005913 rs1131691034 Unclassified Sporadic cancers
164_LYS GLN VAR_005914 - Unclassified Sporadic cancers
164_LYS GLU VAR_044873 rs879254249 Unclassified Sporadic cancers
164_LYS MET VAR_044874 - Unclassified Sporadic cancers
164_LYS ARG VAR_044875 - Unclassified Sporadic cancers
164_LYS THR VAR_044876 - Unclassified Sporadic cancers
165_GLN TER ClinVar
chr17:7578437
rs730882001 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
165_GLN LEU VAR_005915 - Unclassified Sporadic cancers
165_GLN ARG VAR_005916 - Unclassified Sporadic cancers
165_GLN GLU VAR_044877 - Unclassified Sporadic cancers
165_GLN HIS VAR_044878 - Unclassified A sporadic cancer
165_GLN PRO VAR_044879 - Unclassified Sporadic cancers
166_SER LEU VAR_005917 - Unclassified Sporadic cancers
166_SER ALA VAR_044880 - Unclassified Sporadic cancers
166_SER GLY VAR_044881 - Unclassified A sporadic cancer
166_SER PRO VAR_044882 - Unclassified Sporadic cancers
166_SER THR VAR_044883 - Unclassified Sporadic cancers
167_GLN TER ClinVar
chr17:7578431
rs1555526097 Pathogenic/Likely pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
167_GLN HIS VAR_044884 - Unclassified Sporadic cancers
167_GLN LYS VAR_044885 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
167_GLN LEU VAR_044886 - Unclassified Sporadic cancers
167_GLN ARG VAR_044887 - Unclassified Sporadic cancers
168_HIS ARG VAR_005918 rs867114783 Unclassified Sporadic cancers
168_HIS ASP VAR_044888 - Unclassified Sporadic cancers
168_HIS LEU VAR_044889 - Unclassified Sporadic cancers
168_HIS ASN VAR_044890 - Unclassified Sporadic cancers
168_HIS PRO VAR_044891 - Unclassified Sporadic cancers
168_HIS GLN VAR_044892 - Unclassified Sporadic cancers
168_HIS TYR VAR_044893 - Unclassified Sporadic cancers
168_HIS VAL VAR_045801 - Unclassified A sporadic cancer
169_MET ILE VAR_005919 - Unclassified Sporadic cancers
169_MET THR VAR_005920 - Unclassified Sporadic cancers
169_MET LYS VAR_044894 - Unclassified Sporadic cancers
169_MET VAL VAR_044895 - Unclassified Sporadic cancers
170_THR MET VAR_005921 rs779000871 Unclassified Sporadic cancers
170_THR SER VAR_005922 - Unclassified Sporadic cancers
170_THR ALA VAR_044896 rs587780729 Unclassified Sporadic cancers
170_THR LYS VAR_044897 - Unclassified A sporadic cancer
170_THR PRO VAR_044898 - Unclassified A sporadic cancer
171_GLU ALA VAR_044899 - Unclassified A sporadic cancer
171_GLU ASP VAR_044900 - Unclassified Sporadic cancers
171_GLU GLY VAR_044901 - Unclassified Sporadic cancers
171_GLU LYS VAR_044902 rs587781845 Unclassified Sporadic cancers
171_GLU GLN VAR_044903 - Unclassified A sporadic cancer
171_GLU VAL VAR_044904 - Unclassified Sporadic cancers
172_VAL PHE ClinVar
chr17:7578416
rs1131691043 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
172_VAL ALA VAR_005923 - Unclassified Sporadic cancers
172_VAL ASP VAR_044905 - Unclassified Sporadic cancers
172_VAL GLY VAR_044907 rs1131691021 Unclassified Sporadic cancers
172_VAL ILE VAR_044908 - Unclassified Sporadic cancers
173_VAL MET ClinVar
chr17:7578413
rs876660754 Pathogenic/Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; not provided [MedGen:CN517202]
173_VAL GLY ClinVar
chr17:7578412
rs1057519747 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL ALA ClinVar
chr17:7578412
rs1057519747 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL LEU ClinVar
chr17:7578413
rs876660754 Pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL GLU ClinVar
chr17:7578412
rs1057519747 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; not specified [MedGen:CN169374]
173_VAL TRP VAR_045802 - Unclassified A sporadic cancer
174_ARG LYS VAR_005927 rs1064796681 Unclassified Sporadic cancers
174_ARG GLY VAR_044911 rs864622115 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
174_ARG MET VAR_044912 - Unclassified Sporadic cancers
174_ARG SER VAR_044913 - Unclassified Sporadic cancers
174_ARG THR VAR_044914 - Unclassified A sporadic cancer
174_ARG TRP VAR_044915 - Unclassified Sporadic cancers
175_ARG HIS ClinVar
chr17:7578406
rs28934578 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Malignant tumor of esophagus [MedGen:C0546837,OMIM:133239,SNOMED CT:363402007]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; not provided [MedGen:CN517202]
175_ARG LEU ClinVar
chr17:7578406
rs28934578 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
175_ARG GLY ClinVar
chr17:7578407
rs138729528 Pathogenic/Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
175_ARG CYS VAR_005928 rs138729528 Unclassified Sporadic cancers
175_ARG PRO VAR_005931 - Unclassified Sporadic cancers
175_ARG GLN VAR_044916 - Unclassified A sporadic cancer
175_ARG SER VAR_044917 - Unclassified Sporadic cancers
176_CYS PHE ClinVar
chr17:7578403
rs786202962 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
176_CYS GLY ClinVar
chr17:7578404
rs967461896 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
176_CYS ARG ClinVar
chr17:7578404
rs967461896 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
176_CYS TRP VAR_005934 rs1057519980 Unclassified Sporadic cancers
176_CYS GLY VAR_044918 - Unclassified Sporadic cancers
176_CYS ARG VAR_044919 - Unclassified Sporadic cancers
176_CYS SER VAR_044920 rs967461896 Unclassified Sporadic cancers
176_CYS TYR VAR_044921 rs786202962 Unclassified Sporadic cancers
177_PRO LEU VAR_005935 rs751477326 Unclassified Sporadic cancers
177_PRO ARG VAR_036505 rs751477326 Unclassified Sporadic cancers
177_PRO ALA VAR_044922 - Unclassified A sporadic cancer
177_PRO HIS VAR_044923 - Unclassified Sporadic cancers
177_PRO SER VAR_044924 rs147002414 Unclassified Sporadic cancers
177_PRO THR VAR_044925 - Unclassified A sporadic cancer
177_PRO PHE VAR_045803 - Unclassified Sporadic cancers
177_PRO ILE VAR_045804 - Unclassified A sporadic cancer
178_HIS PRO ClinVar
chr17:7578397
rs1555526004 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
178_HIS ASP ClinVar
chr17:7578398
rs1064795203 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
178_HIS ASP VAR_044926 - Unclassified Sporadic cancers
178_HIS LEU VAR_044927 - Unclassified A sporadic cancer
178_HIS ASN VAR_044928 rs1064795203 Unclassified Sporadic cancers
178_HIS PRO VAR_044929 - Unclassified Sporadic cancers
178_HIS GLN VAR_044930 - Unclassified Sporadic cancers
178_HIS ARG VAR_044931 - Unclassified Sporadic cancers
178_HIS TYR VAR_044932 - Unclassified Sporadic cancers
179_HIS TYR ClinVar
chr17:7578395
rs587780070 Pathogenic/Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
179_HIS GLN ClinVar
chr17:7578393
rs876660821 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS ASP ClinVar
chr17:7578395
rs587780070 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS PRO ClinVar
chr17:7578394
rs1057519991 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS GLN ClinVar
chr17:7578393
rs876660821 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
179_HIS LEU VAR_044934 rs1057519991 Unclassified Sporadic cancers
179_HIS ASN VAR_044935 rs587780070 Unclassified Sporadic cancers
179_HIS ARG VAR_044938 rs1057519991 Unclassified Sporadic cancers
180_GLU LYS ClinVar
chr17:7578392
rs879253911 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
180_GLU ALA VAR_044940 - Unclassified A sporadic cancer
180_GLU ASP VAR_044941 - Unclassified Sporadic cancers
180_GLU GLY VAR_044942 - Unclassified A sporadic cancer
180_GLU GLN VAR_044944 - Unclassified Sporadic cancers
180_GLU VAL VAR_044945 - Unclassified A sporadic cancer
181_ARG HIS ClinVar
chr17:7578388
rs397514495 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
181_ARG LEU VAR_005937 rs397514495 Unclassified A familial cancer not matching LFS
181_ARG CYS VAR_044946 rs587782596 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
181_ARG GLY VAR_044947 - Unclassified Sporadic cancers
181_ARG PRO VAR_044949 - Unclassified A familial cancer not matching LFS
181_ARG SER VAR_044950 rs587782596 Unclassified Sporadic cancers
182_CYS SER VAR_005938 - Unclassified Sporadic cancers
182_CYS ARG VAR_044951 - Unclassified Sporadic cancers
182_CYS TYR VAR_044952 - Unclassified Sporadic cancers
189_ALA PRO VAR_005943 - Unclassified Sporadic cancers
189_ALA ASP VAR_044974 - Unclassified A sporadic cancer
189_ALA GLY VAR_044975 - Unclassified Sporadic cancers
189_ALA SER VAR_044976 - Unclassified A sporadic cancer
189_ALA THR VAR_044977 - Unclassified Sporadic cancers
189_ALA VAL VAR_044978 rs121912665 Unclassified A familial cancer not matching LFS
190_PRO LEU VAR_005944 rs876660825 Unclassified Sporadic cancers
190_PRO ALA VAR_044979 - Unclassified Sporadic cancers
190_PRO HIS VAR_044980 - Unclassified A sporadic cancer
190_PRO ARG VAR_044981 rs876660825 Unclassified Sporadic cancers
190_PRO SER VAR_044982 - Unclassified Sporadic cancers
190_PRO THR VAR_044983 rs876660254 Unclassified Sporadic cancers
191_PRO THR VAR_005945 - Unclassified Sporadic cancers
191_PRO HIS VAR_044984 rs587778718 Unclassified Sporadic cancers
191_PRO LEU VAR_044985 rs587778718 Unclassified Sporadic cancers
191_PRO ARG VAR_044986 rs587778718 Unclassified Sporadic cancers
191_PRO SER VAR_044987 rs868590738 Unclassified Sporadic cancers
192_GLN TER ClinVar
chr17:7578275
rs866380588 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
192_GLN ARG VAR_005946 rs730882002 Unclassified Sporadic cancers
192_GLN HIS VAR_044988 - Unclassified Sporadic cancers
192_GLN LYS VAR_044989 - Unclassified A sporadic cancer
192_GLN LEU VAR_044990 - Unclassified Sporadic cancers
192_GLN PRO VAR_044991 - Unclassified Sporadic cancers
193_HIS ARG ClinVar
chr17:7578271
rs786201838 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
193_HIS TYR ClinVar
chr17:7578272
rs876658468 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
193_HIS PRO ClinVar
chr17:7578271
rs786201838 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
193_HIS ASP ClinVar
chr17:7578272
rs876658468 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
193_HIS ASN ClinVar
chr17:7578272
rs876658468 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
193_HIS LEU VAR_044992 rs786201838 Unclassified Sporadic cancers
193_HIS GLN VAR_044995 - Unclassified Sporadic cancers
194_LEU PHE ClinVar
chr17:7578269
rs587780071 Likely pathogenic Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
194_LEU PRO VAR_005949 rs1057519998 Unclassified Sporadic cancers
194_LEU ARG VAR_005950 rs1057519998 Unclassified Sporadic cancers
194_LEU HIS VAR_044998 rs1057519998 Unclassified Sporadic cancers
194_LEU ILE VAR_044999 - Unclassified Sporadic cancers
194_LEU VAL VAR_045000 - Unclassified Sporadic cancers
195_ILE THR ClinVar
chr17:7578265
rs760043106 Pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
195_ILE PHE ClinVar
chr17:7578266
rs942158624 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
195_ILE SER ClinVar
chr17:7578265
rs760043106 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
195_ILE ASN VAR_045002 rs760043106 Unclassified Sporadic cancers
195_ILE VAL VAR_045004 - Unclassified A sporadic cancer
195_ILE TYR VAR_045806 - Unclassified A sporadic cancer
195_ILE LEU VAR_047172 - Unclassified A sporadic cancer
196_ARG TER ClinVar
chr17:7578263
rs397516435 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
196_ARG PRO ClinVar
chr17:7578262
rs483352697 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
196_ARG GLY VAR_045005 rs397516435 Unclassified Sporadic cancers
196_ARG LEU VAR_045006 rs483352697 Unclassified Sporadic cancers
196_ARG GLN VAR_045008 rs483352697 Unclassified Sporadic cancers
196_ARG SER VAR_045009 - Unclassified A sporadic cancer
197_VAL GLU VAR_045010 - Unclassified A familial cancer not matching LFS
197_VAL GLY VAR_045011 - Unclassified Sporadic cancers
197_VAL LEU VAR_045012 rs786204041 Unclassified Sporadic cancers
197_VAL MET VAR_045013 rs786204041 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
198_GLU LYS VAR_005952 - Unclassified Sporadic cancers
198_GLU ASP VAR_045014 - Unclassified A sporadic cancer
198_GLU GLY VAR_045015 - Unclassified Sporadic cancers
198_GLU GLN VAR_045016 - Unclassified Sporadic cancers
198_GLU VAL VAR_045017 - Unclassified A sporadic cancer
199_GLY VAL ClinVar
chr17:7578253
rs1555525857 Likely pathogenic not provided [MedGen:CN517202]
199_GLY ALA VAR_045018 - Unclassified A sporadic cancer
199_GLY GLU VAR_045019 - Unclassified Sporadic cancers
199_GLY ARG VAR_045020 - Unclassified Sporadic cancers
199_GLY VAL VAR_045021 - Unclassified Sporadic cancers
201_LEU PHE VAR_045027 rs730882024 Unclassified Sporadic cancers
201_LEU PRO VAR_045028 - Unclassified A sporadic cancer
201_LEU SER VAR_045029 - Unclassified A sporadic cancer
202_ARG CYS VAR_045030 rs587780072 Unclassified Sporadic cancers
202_ARG GLY VAR_045031 rs587780072 Unclassified Sporadic cancers
202_ARG HIS VAR_045032 rs587778719 Unclassified Sporadic cancers
202_ARG LEU VAR_045033 rs587778719 Unclassified Sporadic cancers
202_ARG PRO VAR_045034 - Unclassified Sporadic cancers
202_ARG SER VAR_045035 - Unclassified Sporadic cancers
203_VAL ALA VAR_045036 - Unclassified Sporadic cancers
203_VAL GLU VAR_045037 - Unclassified Sporadic cancers
203_VAL LEU VAR_045038 - Unclassified Sporadic cancers
203_VAL MET VAR_045039 rs730882003 Unclassified Sporadic cancers
203_VAL TRP VAR_045808 - Unclassified A sporadic cancer
204_GLU ALA VAR_045040 - Unclassified Sporadic cancers
204_GLU ASP VAR_045041 - Unclassified Sporadic cancers
204_GLU GLY VAR_045042 rs1260903787 Unclassified Sporadic cancers
204_GLU LYS VAR_045043 - Unclassified Sporadic cancers
204_GLU GLN VAR_045044 - Unclassified A sporadic cancer
204_GLU VAL VAR_045045 - Unclassified A sporadic cancer
205_TYR TER ClinVar
chr17:7578234
rs786202222 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
205_TYR CYS ClinVar
chr17:7578235
rs1057520007 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR PHE ClinVar
chr17:7578235
rs1057520007 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR SER ClinVar
chr17:7578235
rs1057520007 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR HIS ClinVar
chr17:7578236
rs1057520008 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR ASP VAR_005954 rs1057520008 Unclassified Sporadic cancers
205_TYR ASN VAR_045047 rs1057520008 Unclassified Sporadic cancers
206_LEU PHE VAR_045049 - Unclassified A sporadic cancer
206_LEU MET VAR_045050 - Unclassified A sporadic cancer
207_ASP GLU VAR_045051 - Unclassified Sporadic cancers
207_ASP GLY VAR_045052 - Unclassified Sporadic cancers
207_ASP HIS VAR_045053 - Unclassified Sporadic cancers
207_ASP ASN VAR_045054 rs923100890 Unclassified Sporadic cancers
207_ASP VAL VAR_045055 - Unclassified A sporadic cancer
207_ASP TYR VAR_045056 - Unclassified A sporadic cancer
208_ASP GLU VAR_045057 - Unclassified Sporadic cancers
208_ASP GLY VAR_045058 - Unclassified Sporadic cancers
208_ASP HIS VAR_045059 - Unclassified A sporadic cancer
208_ASP ASN VAR_045060 - Unclassified Sporadic cancers
208_ASP VAL VAR_045061 rs1464727668 Unclassified Sporadic cancers
208_ASP TYR VAR_045062 - Unclassified A sporadic cancer
208_ASP ILE VAR_045809 - Unclassified A sporadic cancer
209_ARG ILE VAR_045063 - Unclassified Sporadic cancers
209_ARG LYS VAR_045064 - Unclassified Sporadic cancers
209_ARG SER VAR_045065 - Unclassified A sporadic cancer
209_ARG THR VAR_045066 - Unclassified Sporadic cancers
210_ASN ASP VAR_045067 - Unclassified Sporadic cancers
210_ASN HIS VAR_045068 - Unclassified Sporadic cancers
210_ASN ILE VAR_045069 - Unclassified A sporadic cancer
210_ASN LYS VAR_045070 - Unclassified A sporadic cancer
210_ASN SER VAR_045071 - Unclassified Sporadic cancers
210_ASN THR VAR_045072 - Unclassified A sporadic cancer
210_ASN TYR VAR_045073 rs1060501200 Unclassified A familial cancer not matching LFS
211_THR ALA VAR_045074 rs1060501198 Unclassified Sporadic cancers
211_THR ILE VAR_045075 - Unclassified Sporadic cancers
211_THR ASN VAR_045076 - Unclassified Sporadic cancers
211_THR PRO VAR_045077 - Unclassified A sporadic cancer
211_THR SER VAR_045078 - Unclassified Sporadic cancers
212_PHE ILE VAR_045079 rs1064795766 Unclassified Sporadic cancers
212_PHE LEU VAR_045080 - Unclassified Sporadic cancers
212_PHE SER VAR_045081 - Unclassified Sporadic cancers
212_PHE VAL VAR_045082 - Unclassified A sporadic cancer
212_PHE TYR VAR_045083 - Unclassified Sporadic cancers
213_ARG TER ClinVar
chr17:7578212
rs397516436 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
213_ARG GLN ClinVar
chr17:7578211
rs587778720 Pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; PARP Inhibitor response [MedGen:CN240833]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
213_ARG PRO ClinVar
chr17:7578211
rs587778720 Pathogenic/Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not specified [MedGen:CN169374]
213_ARG LEU ClinVar
chr17:7578211
rs587778720 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
213_ARG GLY ClinVar
chr17:7578212
rs397516436 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
213_ARG TRP VAR_045086 - Unclassified Sporadic cancers
214_HIS LEU ClinVar
chr17:7578208
rs1057519992 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
214_HIS ASP VAR_045087 - Unclassified Sporadic cancers
214_HIS PRO VAR_045088 rs1057519992 Unclassified A sporadic cancer
214_HIS ARG VAR_045089 rs1057519992 Unclassified Sporadic cancers
214_HIS TYR VAR_045090 - Unclassified Sporadic cancers
214_HIS GLN VAR_047177 rs587781386 Unclassified Sporadic cancers
215_SER ILE ClinVar
chr17:7578205
rs587782177 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]
215_SER ASN ClinVar
chr17:7578205
rs587782177 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]
215_SER CYS VAR_045091 - Unclassified Sporadic cancers
215_SER GLY VAR_045092 rs886039484 Unclassified Sporadic cancers
215_SER ARG VAR_045095 rs1057520001 Unclassified Sporadic cancers
215_SER THR VAR_045096 rs587782177 Unclassified Sporadic cancers
215_SER LYS VAR_045810 - Unclassified Sporadic cancers
216_VAL LEU ClinVar
chr17:7578203
rs730882025 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
216_VAL GLY ClinVar
chr17:7578202
rs1057520004 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
216_VAL GLU ClinVar
chr17:7578202
rs1057520004 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
216_VAL MET VAR_005956 rs730882025 Unclassified Sporadic cancers
216_VAL ALA VAR_045097 - Unclassified Sporadic cancers
216_VAL TRP VAR_045811 - Unclassified A sporadic cancer
217_VAL ALA VAR_045101 - Unclassified Sporadic cancers
217_VAL GLU VAR_045102 - Unclassified Sporadic cancers
217_VAL GLY VAR_045103 - Unclassified Sporadic cancers
217_VAL ILE VAR_045104 - Unclassified A sporadic cancer
217_VAL LEU VAR_045105 - Unclassified Sporadic cancers
217_VAL MET VAR_047178 rs35163653 Polymorphism -
218_VAL MET ClinVar
chr17:7578197
rs878854072 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
218_VAL ALA VAR_045106 - Unclassified Sporadic cancers
218_VAL GLU VAR_045107 - Unclassified Sporadic cancers
218_VAL GLY VAR_045108 - Unclassified Sporadic cancers
218_VAL LEU VAR_045109 - Unclassified Sporadic cancers
219_PRO HIS VAR_045111 - Unclassified A sporadic cancer
219_PRO LEU VAR_045112 rs1420675064 Unclassified Sporadic cancers
219_PRO ARG VAR_045113 - Unclassified A sporadic cancer
219_PRO SER VAR_045114 rs879253894 Unclassified A familial cancer not matching LFS
219_PRO THR VAR_045115 - Unclassified Sporadic cancers
219_PRO CYS VAR_045812 - Unclassified A sporadic cancer
220_TYR SER ClinVar
chr17:7578190
rs121912666 Pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
220_TYR CYS ClinVar
chr17:7578190
rs121912666 Pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
220_TYR ASN ClinVar
chr17:7578191
rs530941076 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
220_TYR ASP ClinVar
chr17:7578191
rs530941076 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
220_TYR HIS VAR_005958 rs530941076 Unclassified Sporadic cancers
220_TYR PHE VAR_045117 - Unclassified A sporadic cancer
221_GLU ALA VAR_045119 - Unclassified Sporadic cancers
221_GLU ASP VAR_045120 - Unclassified Sporadic cancers
221_GLU GLY VAR_045121 - Unclassified Sporadic cancers
221_GLU LYS VAR_045122 rs786201592 Unclassified Sporadic cancers
221_GLU GLN VAR_045123 - Unclassified Sporadic cancers
222_PRO ALA VAR_045124 - Unclassified A sporadic cancer
222_PRO LEU VAR_045125 rs146340390 Unclassified Sporadic cancers
222_PRO GLN VAR_045126 - Unclassified Sporadic cancers
222_PRO ARG VAR_045127 - Unclassified A sporadic cancer
222_PRO SER VAR_045128 rs1060501203 Unclassified Sporadic cancers
222_PRO THR VAR_045129 - Unclassified Sporadic cancers
223_PRO HIS VAR_045130 rs138983188 Unclassified Sporadic cancers
223_PRO LEU VAR_045131 rs138983188 Unclassified Sporadic cancers
223_PRO ARG VAR_045132 - Unclassified A sporadic cancer
223_PRO SER VAR_045133 - Unclassified A sporadic cancer
223_PRO THR VAR_045134 - Unclassified A sporadic cancer
223_PRO ALA VAR_047179 - Unclassified A sporadic cancer
228_GLU ASP VAR_045135 rs267605076 Unclassified Sporadic cancers
228_GLU GLY VAR_045136 - Unclassified Sporadic cancers
228_GLU LYS VAR_045137 - Unclassified Sporadic cancers
228_GLU VAL VAR_045138 - Unclassified A sporadic cancer
229_CYS GLY VAR_045158 - Unclassified A sporadic cancer
229_CYS ARG VAR_045159 rs1064794312 Unclassified Sporadic cancers
229_CYS SER VAR_045160 - Unclassified Sporadic cancers
229_CYS TYR VAR_045161 rs1064793603 Unclassified Sporadic cancers
229_CYS ASN VAR_045846 - Unclassified A sporadic cancer
230_THR ILE VAR_005961 - Unclassified Sporadic cancers
230_THR ALA VAR_045162 - Unclassified Sporadic cancers
230_THR ASN VAR_045163 - Unclassified Sporadic cancers
230_THR PRO VAR_045164 - Unclassified Sporadic cancers
230_THR SER VAR_045165 - Unclassified Sporadic cancers
231_THR ALA VAR_045166 - Unclassified Sporadic cancers
231_THR ILE VAR_045167 - Unclassified Sporadic cancers
231_THR ASN VAR_045168 - Unclassified Sporadic cancers
231_THR SER VAR_045169 - Unclassified Sporadic cancers
232_ILE THR ClinVar
chr17:7577586
rs587781589 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not specified [MedGen:CN169374]
232_ILE PHE VAR_045170 - Unclassified Sporadic cancers
232_ILE LEU VAR_045171 - Unclassified Sporadic cancers
232_ILE ASN VAR_045172 - Unclassified Sporadic cancers
232_ILE SER VAR_045173 - Unclassified Sporadic cancers
232_ILE VAL VAR_045174 - Unclassified Sporadic cancers
233_HIS ASP VAR_045175 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
233_HIS LEU VAR_045176 - Unclassified Sporadic cancers
233_HIS PRO VAR_045177 - Unclassified A sporadic cancer
233_HIS GLN VAR_045178 - Unclassified Sporadic cancers
233_HIS TYR VAR_045179 - Unclassified Sporadic cancers
233_HIS ARG VAR_047181 rs879254233 Unclassified Sporadic cancers
234_TYR CYS ClinVar
chr17:7577580
rs587780073 Pathogenic/Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
234_TYR SER ClinVar
chr17:7577580
rs587780073 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
234_TYR ASN ClinVar
chr17:7577581
rs864622237 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
234_TYR HIS VAR_005964 rs864622237 Unclassified Sporadic cancers
234_TYR ASP VAR_045180 rs864622237 Unclassified Sporadic cancers
234_TYR PHE VAR_045181 - Unclassified A sporadic cancer
234_TYR LYS VAR_045847 - Unclassified A sporadic cancer
234_TYR GLN VAR_045848 - Unclassified A sporadic cancer
235_ASN HIS VAR_045184 - Unclassified A sporadic cancer
235_ASN ILE VAR_045185 rs144340710 Unclassified Sporadic cancers
235_ASN SER VAR_045186 rs144340710 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
235_ASN THR VAR_045187 - Unclassified Sporadic cancers
235_ASN TYR VAR_045188 rs786204145 Unclassified Sporadic cancers
235_ASN MET VAR_045849 - Unclassified A sporadic cancer
235_ASN ASP VAR_047182 - Unclassified An adrenocortical carcinoma with no family history
236_TYR ASP ClinVar
chr17:7577575
rs587782289 Pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
236_TYR CYS ClinVar
chr17:7577574
rs730882026 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
236_TYR PHE VAR_045191 - Unclassified A sporadic cancer
236_TYR HIS VAR_045192 rs587782289 Unclassified Sporadic cancers
236_TYR ASN VAR_045193 rs587782289 Unclassified Sporadic cancers
236_TYR SER VAR_045194 rs730882026 Unclassified Sporadic cancers
237_MET LYS ClinVar
chr17:7577571
rs765848205 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
237_MET ILE VAR_005965 rs587782664 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
237_MET LEU VAR_045196 - Unclassified Sporadic cancers
237_MET ARG VAR_045197 rs765848205 Unclassified Sporadic cancers
237_MET THR VAR_045198 - Unclassified Sporadic cancers
237_MET VAL VAR_045199 rs730882004 Unclassified Sporadic cancers
238_CYS TRP ClinVar
chr17:7577567
rs193920789 Pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Malignant tumor of prostate [Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003]
238_CYS TYR ClinVar
chr17:7577568
rs730882005 Pathogenic/Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
238_CYS PHE ClinVar
chr17:7577568
rs730882005 Pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS SER ClinVar
chr17:7577568
rs730882005 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS ARG ClinVar
chr17:7577569
rs1057519981 Pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS GLY ClinVar
chr17:7577569
rs1057519981 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS SER ClinVar
chr17:7577569
rs1057519981 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
238_CYS HIS VAR_045850 - Unclassified A sporadic cancer
239_ASN SER ClinVar
chr17:7577565
rs1057519999 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Uterine Carcinosarcoma [MedGen:C0280630]
239_ASN ASP VAR_045204 rs876660807 Unclassified Sporadic cancers
239_ASN HIS VAR_045205 - Unclassified A sporadic cancer
239_ASN ILE VAR_045206 - Unclassified A sporadic cancer
239_ASN LYS VAR_045207 rs1057522275 Unclassified Sporadic cancers
239_ASN THR VAR_045209 rs1057519999 Unclassified Sporadic cancers
239_ASN TYR VAR_045210 - Unclassified Sporadic cancers
240_SER GLY ClinVar
chr17:7577563
- Likely pathogenic Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
240_SER ILE VAR_005968 - Unclassified Sporadic cancers
240_SER CYS VAR_045211 - Unclassified Sporadic cancers
240_SER ASN VAR_045213 - Unclassified Sporadic cancers
240_SER PRO VAR_045214 - Unclassified A sporadic cancer
240_SER ARG VAR_045215 - Unclassified Sporadic cancers
240_SER THR VAR_045216 - Unclassified Sporadic cancers
241_SER PHE ClinVar
chr17:7577559
rs28934573 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatoblastoma [Human Phenotype Ontology:HP:0002884,MedGen:C0206624,Orphanet:ORPHA449]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Osteosarcoma [Human Phenotype Ontology:HP:0002669,MeSH:D012516,MedGen:C0029463,OMIM:259500,Orphanet:ORPHA668,SNOMED CT:21708004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER CYS ClinVar
chr17:7577559
rs28934573 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
241_SER TYR ClinVar
chr17:7577559
rs28934573 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER PRO ClinVar
chr17:7577560
rs1057520002 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER ALA ClinVar
chr17:7577560
rs1057520002 Likely pathogenic Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER THR VAR_047183 - Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
242_CYS TYR ClinVar
chr17:7577556
rs121912655 Pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni-like syndrome [MedGen:C2675080]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
242_CYS TRP ClinVar
chr17:7577555
rs375874539 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
242_CYS ARG ClinVar
chr17:7577557
rs1057519982 Likely pathogenic not provided [MedGen:CN517202]
242_CYS PHE VAR_005970 rs121912655 Unclassified Sporadic cancers
242_CYS GLY VAR_045220 rs1057519982 Unclassified Sporadic cancers
242_CYS ARG VAR_045221 - Unclassified Sporadic cancers
242_CYS SER VAR_045222 rs121912655 Unclassified Sporadic cancers
243_MET ILE VAR_045225 - Unclassified Sporadic cancers
243_MET LYS VAR_045226 - Unclassified Sporadic cancers
243_MET LEU VAR_045227 rs786203117 Unclassified Sporadic cancers
243_MET ARG VAR_045228 - Unclassified Sporadic cancers
243_MET THR VAR_045229 rs730882006 Unclassified Sporadic cancers
243_MET VAL VAR_045230 rs786203117 Unclassified Sporadic cancers
244_GLY ASP ClinVar
chr17:7577550
rs985033810 Pathogenic/Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
244_GLY SER ClinVar
chr17:7577551
rs1057519989 Pathogenic/Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
244_GLY VAL ClinVar
chr17:7577550
rs985033810 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
244_GLY ARG ClinVar
chr17:7577551
rs1057519989 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
244_GLY CYS VAR_045231 rs1057519989 Unclassified Sporadic cancers
244_GLY ASP VAR_045232 rs1057517983 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
244_GLY GLU VAR_045233 - Unclassified A sporadic cancer
244_GLY ALA VAR_047186 rs985033810 Unclassified Sporadic cancers
245_GLY CYS ClinVar
chr17:7577548
rs28934575 Pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
245_GLY ASP ClinVar
chr17:7577547
rs121912656 Pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
245_GLY SER ClinVar
chr17:7577548
rs28934575 Pathogenic Adenocarcinoma [MedGen:C0001418]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Astrocytoma, anaplastic [MedGen:C0334579,Orphanet:ORPHA251589,SNOMED CT:55353007]; Atypical teratoid/rhabdoid tumor [MedGen:C1266184,Orphanet:ORPHA251891]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Li-Fraumeni-like syndrome [MedGen:C2675080]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
245_GLY ALA ClinVar
chr17:7577547
rs121912656 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
245_GLY VAL ClinVar
chr17:7577547
rs121912656 Likely pathogenic Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
245_GLY GLU VAR_045237 - Unclassified A sporadic cancer
245_GLY ARG VAR_045238 rs28934575 Unclassified Sporadic cancers
245_GLY PHE VAR_045851 - Unclassified Sporadic cancers
245_GLY HIS VAR_045852 - Unclassified A sporadic cancer
245_GLY LEU VAR_045853 - Unclassified Sporadic cancers
245_GLY ASN VAR_045854 - Unclassified Sporadic cancers
246_MET VAL ClinVar
chr17:7577545
rs483352695 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
246_MET ARG ClinVar
chr17:7577544
rs587780074 Pathogenic not provided [MedGen:CN517202]
246_MET LEU ClinVar
chr17:7577545
rs483352695 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
246_MET LYS ClinVar
chr17:7577544
rs587780074 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
246_MET THR VAR_005977 rs587780074 Unclassified Sporadic cancers
246_MET ILE VAR_045239 rs1019340046 Unclassified Sporadic cancers
246_MET LYS VAR_045240 - Unclassified Sporadic cancers
247_ASN ILE VAR_005980 rs786201762 Unclassified Sporadic cancers
247_ASN ASP VAR_045241 rs1452189221 Unclassified Sporadic cancers
247_ASN LYS VAR_045242 - Unclassified Sporadic cancers
247_ASN SER VAR_045243 rs786201762 Unclassified Sporadic cancers
247_ASN TYR VAR_045244 - Unclassified Sporadic cancers
247_ASN PHE VAR_045855 - Unclassified A sporadic cancer
247_ASN THR VAR_047189 - Unclassified Sporadic cancers
248_ARG TRP ClinVar
chr17:7577539
rs121912651 Pathogenic Abnormality of the tongue [Human Phenotype Ontology:HP:0000157,MedGen:C0878638]; Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Cognitive impairment [Human Phenotype Ontology:HP:0100543,MedGen:C0338656]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Pancytopenia [Human Phenotype Ontology:HP:0001876,MedGen:C0030312]; Pectus excavatum [Human Phenotype Ontology:HP:0000767,MedGen:C0016842,OMIM:169300]; Short stature [Human Phenotype Ontology:HP:0004322,MedGen:C0349588]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Webbed neck [Human Phenotype Ontology:HP:0000465,MedGen:C0221217]; not provided [MedGen:CN517202]
248_ARG GLN ClinVar
chr17:7577538
rs11540652 Pathogenic/Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant Colorectal Neoplasm [MedGen:C0346629]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Sarcoma [Human Phenotype Ontology:HP:0100242,MedGen:C1261473]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
248_ARG LEU ClinVar
chr17:7577538
rs11540652 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
248_ARG PRO ClinVar
chr17:7577538
rs11540652 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
248_ARG GLY ClinVar
chr17:7577539
rs121912651 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of colon [MedGen:C0699790,OMIM:114500,SNOMED CT:269533000]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
248_ARG CYS VAR_045245 - Unclassified A sporadic cancer
249_ARG THR ClinVar
chr17:7577535
rs587782329 Likely pathogenic Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
249_ARG GLY VAR_005985 rs587782082 Unclassified Sporadic cancers
249_ARG SER VAR_005986 rs28934571 Unclassified Sporadic cancers
249_ARG MET VAR_033037 rs587782329 Unclassified Sporadic cancers
249_ARG ILE VAR_045247 - Unclassified A sporadic cancer
249_ARG LYS VAR_045248 rs587782329 Unclassified Sporadic cancers
249_ARG TRP VAR_045250 rs587782082 Unclassified Sporadic cancers
249_ARG ASN VAR_045856 - Unclassified A sporadic cancer
250_PRO ALA VAR_045251 - Unclassified Sporadic cancers
250_PRO HIS VAR_045252 - Unclassified Sporadic cancers
250_PRO GLN VAR_045253 - Unclassified Sporadic cancers
250_PRO SER VAR_045254 - Unclassified Sporadic cancers
250_PRO THR VAR_045255 - Unclassified Sporadic cancers
250_PRO PHE VAR_045857 - Unclassified Sporadic cancers
250_PRO ASN VAR_045858 - Unclassified Sporadic cancers
250_PRO LEU VAR_047192 rs1064794311 Unclassified Sporadic cancers
251_ILE SER ClinVar
chr17:7577529
rs730882027 Likely pathogenic not provided [MedGen:CN517202]
251_ILE LEU ClinVar
chr17:7577530
rs730882007 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not provided [MedGen:CN517202]
251_ILE ASN VAR_005987 - Unclassified Sporadic cancers
251_ILE PHE VAR_045256 - Unclassified Sporadic cancers
251_ILE MET VAR_045258 rs878854074 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
251_ILE THR VAR_045259 - Unclassified Sporadic cancers
251_ILE VAL VAR_045260 - Unclassified Sporadic cancers
252_LEU PRO ClinVar
chr17:7577526
rs121912653 Pathogenic Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]
252_LEU PHE VAR_045261 - Unclassified Sporadic cancers
252_LEU HIS VAR_045262 - Unclassified A sporadic cancer
252_LEU ILE VAR_045263 - Unclassified Sporadic cancers
252_LEU VAL VAR_045264 - Unclassified A sporadic cancer
253_THR ALA VAR_045265 - Unclassified Sporadic cancers
253_THR ILE VAR_045266 - Unclassified Sporadic cancers
253_THR ASN VAR_045267 - Unclassified Sporadic cancers
253_THR SER VAR_045268 - Unclassified Sporadic cancers
253_THR PRO VAR_047193 - Unclassified Sporadic cancers
254_ILE ASN VAR_017908 - Unclassified Sporadic cancers
254_ILE THR VAR_017909 - Unclassified Sporadic cancers
254_ILE PHE VAR_045269 - Unclassified A sporadic cancer
254_ILE LEU VAR_045270 - Unclassified A sporadic cancer
254_ILE MET VAR_045271 - Unclassified A sporadic cancer
254_ILE SER VAR_045272 rs1330865474 Unclassified Sporadic cancers
254_ILE VAL VAR_045273 rs746601313 Unclassified Sporadic cancers
254_ILE ASP VAR_045859 - Unclassified Sporadic cancers
255_ILE PHE ClinVar
chr17:7577518
rs1057519995 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]
255_ILE SER ClinVar
chr17:7577517
rs876659675 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]
255_ILE MET VAR_045275 - Unclassified Sporadic cancers
255_ILE ASN VAR_045276 rs876659675 Unclassified Sporadic cancers
255_ILE THR VAR_045278 rs876659675 Unclassified Sporadic cancers
255_ILE VAL VAR_045279 - Unclassified Sporadic cancers
256_THR ILE VAR_045280 - Unclassified A brain tumor with no family history
256_THR LYS VAR_045281 - Unclassified Sporadic cancers
256_THR PRO VAR_045282 - Unclassified Sporadic cancers
256_THR SER VAR_045283 - Unclassified Sporadic cancers
257_LEU ARG ClinVar
chr17:7577511
rs28934577 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
257_LEU PRO VAR_005989 - Unclassified Sporadic cancers
257_LEU GLN VAR_045284 rs28934577 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
257_LEU VAL VAR_045286 - Unclassified Sporadic cancers
258_GLU LYS ClinVar
chr17:7577509
rs121912652 Pathogenic Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
258_GLU TER ClinVar
chr17:7577509
rs121912652 Pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
258_GLU ASP VAR_005990 - Unclassified Sporadic cancers
258_GLU ALA VAR_045287 - Unclassified Sporadic cancers
258_GLU GLY VAR_045288 rs1060501201 Unclassified Sporadic cancers
258_GLU GLN VAR_045289 - Unclassified Sporadic cancers
258_GLU VAL VAR_045290 - Unclassified Sporadic cancers
258_GLU LEU VAR_045860 - Unclassified A sporadic cancer
259_ASP TYR VAR_033039 - Unclassified Sporadic cancers
259_ASP GLU VAR_045291 - Unclassified Sporadic cancers
259_ASP GLY VAR_045292 rs745425759 Unclassified Sporadic cancers
259_ASP HIS VAR_045293 - Unclassified Sporadic cancers
259_ASP ASN VAR_045294 - Unclassified Sporadic cancers
259_ASP VAL VAR_045295 - Unclassified Sporadic cancers
259_ASP PRO VAR_045861 - Unclassified A sporadic cancer
259_ASP SER VAR_045862 - Unclassified A sporadic cancer
259_ASP ALA VAR_047194 - Unclassified A sporadic cancer
260_SER ALA VAR_045296 - Unclassified Sporadic cancers
260_SER CYS VAR_045297 - Unclassified Sporadic cancers
260_SER PHE VAR_045298 - Unclassified Sporadic cancers
260_SER PRO VAR_045299 - Unclassified Sporadic cancers
260_SER THR VAR_045300 - Unclassified A sporadic cancer
260_SER TYR VAR_045301 rs876658916 Unclassified Sporadic cancers
261_SER CYS VAR_045302 - Unclassified A sporadic cancer
261_SER GLY VAR_045303 - Unclassified Sporadic cancers
261_SER ILE VAR_045304 - Unclassified Sporadic cancers
261_SER ASN VAR_045305 - Unclassified A sporadic cancer
261_SER ARG VAR_045306 - Unclassified Sporadic cancers
262_GLY CYS VAR_045307 rs200579969 Unclassified A sporadic cancer
262_GLY SER VAR_045308 rs200579969 Unclassified Sporadic cancers
262_GLY VAL VAR_045309 rs1131691025 Unclassified Sporadic cancers
262_GLY HIS VAR_045863 - Unclassified A sporadic cancer
262_GLY ASP VAR_047196 - Unclassified Sporadic cancers
263_ASN ASP VAR_045310 rs72661119 Unclassified Sporadic cancers
263_ASN HIS VAR_045311 - Unclassified Sporadic cancers
263_ASN ILE VAR_045312 - Unclassified Sporadic cancers
263_ASN LYS VAR_045313 - Unclassified A sporadic cancer
263_ASN SER VAR_045314 - Unclassified A sporadic cancer
264_LEU ILE VAR_045315 - Unclassified Sporadic cancers
264_LEU PRO VAR_045316 - Unclassified A sporadic cancer
264_LEU GLN VAR_045317 - Unclassified A sporadic cancer
264_LEU ARG VAR_045318 - Unclassified Sporadic cancers
264_LEU VAL VAR_045319 - Unclassified A sporadic cancer
265_LEU PRO ClinVar
chr17:7577144
rs879253942 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
265_LEU MET VAR_045320 - Unclassified Sporadic cancers
265_LEU GLN VAR_045322 - Unclassified Sporadic cancers
265_LEU ARG VAR_047197 - Unclassified Sporadic cancers
266_GLY ARG ClinVar
chr17:7577142
rs1057519990 Likely pathogenic Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
266_GLY ALA VAR_045323 - Unclassified Sporadic cancers
266_GLY GLU VAR_045324 rs193920774 Unclassified Sporadic cancers
266_GLY VAL VAR_045326 rs193920774 Unclassified Sporadic cancers
267_ARG TRP ClinVar
chr17:7577139
rs55832599 Likely pathogenic Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
267_ARG GLY VAR_045327 - Unclassified Sporadic cancers
267_ARG HIS VAR_045328 - Unclassified A sporadic cancer
267_ARG PRO VAR_045329 rs587780075 Unclassified Sporadic cancers
267_ARG GLN VAR_045330 rs587780075 Disease Li-Fraumeni syndrome (LFS) [MIM:151623]
268_ASN HIS VAR_045331 - Unclassified Sporadic cancers
268_ASN ILE VAR_045332 - Unclassified Sporadic cancers
268_ASN LYS VAR_045333 - Unclassified A sporadic cancer
268_ASN SER VAR_045334 - Unclassified Sporadic cancers
268_ASN TYR VAR_045335 - Unclassified A sporadic cancer
268_ASN PHE VAR_045864 - Unclassified A sporadic cancer
269_SER CYS VAR_045336 - Unclassified Sporadic cancers
269_SER GLY VAR_045337 - Unclassified Sporadic cancers
269_SER ASN VAR_045338 - Unclassified Sporadic cancers
269_SER ARG VAR_045339 - Unclassified Sporadic cancers
269_SER THR VAR_045340 - Unclassified A sporadic cancer
269_SER ILE VAR_047198 - Unclassified A sporadic cancer
270_PHE SER ClinVar
chr17:7577129
rs1057519986 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; not provided [MedGen:CN517202]
270_PHE LEU ClinVar
chr17:7577128
rs1057519987 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
270_PHE ILE ClinVar
chr17:7577130
rs1057519988 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
270_PHE CYS ClinVar
chr17:7577129
rs1057519986 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
270_PHE VAL ClinVar
chr17:7577130
rs1057519988 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
270_PHE TYR VAR_045346 - Unclassified Sporadic cancers
271_GLU LYS VAR_036508 rs1060501191 Unclassified Sporadic cancers
271_GLU ALA VAR_045347 - Unclassified Sporadic cancers
271_GLU ASP VAR_045348 - Unclassified Sporadic cancers
271_GLU GLY VAR_045349 - Unclassified Sporadic cancers
271_GLU GLN VAR_045350 - Unclassified Sporadic cancers
271_GLU PRO VAR_045865 - Unclassified A sporadic cancer
271_GLU ARG VAR_045866 - Unclassified A sporadic cancer
271_GLU VAL VAR_047199 - Unclassified An osteosarcoma with no family history
272_VAL LEU ClinVar
chr17:7577124
rs121912657 Likely pathogenic Adenocarcinoma of stomach [MedGen:C0278701]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C