PDB ID 3CON     CHAIN A
Protein name GTPase NRas
Uniprot Accession P01111
The number of similar proteins 536
The number of binding states 32
The number of binding partners 26

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MHHHHHHSSG   RENLYFQGMT   EYKLVVVGAG   GVGKSALTIQ   LIQNHFVDEY   50
51   DPTIEDSYRK   QVVIDGETCL   LDILDTAGQE   EYSAMRDQYM   RTGEGFLCVF   100
101   AINNSKSFAD   INLYREQIKR   VKDSDDVPMV   LVGNKCDLPT   RTVDTKQAHE   150
151   LAKSYGIPFI   ETSAKTRQGV   EDAFYTLVRE   IRQYRMKKLN     200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
5_LYS ASN ClinVar
chr12:25398304
rs104894361
Pathogenic - Cardiofaciocutaneous syndrome 2|not provided|Inborn genetic diseases|Noonan syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
5_LYS GLU ClinVar
chr12:25398306
rs193929331
Pathogenic/Likely pathogenic - Noonan syndrome 3|RASopathy|not provided|Noonan syndrome|Prostate cancer, hereditary, 1|KRAS-related condition [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331|]
5_LYS ASN ClinVar
chr12:25398304
rs104894361
Pathogenic - not provided [MedGen:CN517202]
5_LYS GLN ClinVar
chr12:25398306
-
Likely pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
7_VAL GLU ClinVar
chr12:25398299
-
Likely pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY CYS VAR_021194 rs121913250
US - Leukemia
12_GLY ASP VAR_071129 rs121913237
LP/P - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
12_GLY CYS ClinVar
chr12:25398285
rs121913530
Likely pathogenic - Lung carcinoma|Non-small cell lung carcinoma|Endometrial carcinoma|Thyroid tumor|Neoplasm of ovary|Lung adenocarcinoma|Neoplasm of the large intestine|Gallbladder cancer|not provided|RASopathy [MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0005411,MedGen:C0153452|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY ARG ClinVar
chr12:25398285
rs121913530
Pathogenic/Likely pathogenic - Squamous cell lung carcinoma|Malignant tumor of urinary bladder|Non-small cell lung carcinoma|Thyroid tumor|Neoplasm of ovary|Neoplasm of the large intestine|Adenoid cystic carcinoma|not provided|RASopathy [Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY ASP ClinVar
chr12:25398284
rs121913529
Pathogenic - Carcinoma of pancreas|Epidermal nevus|Nevus sebaceous|Linear nevus sebaceous syndrome|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|Non-small cell lung carcinoma|Neoplasm of ovary|not provided|Lung carcinoma|Neoplasm of the large intestine|Acute myeloid leukemia|Thyroid tumor|RASopathy|Cerebral arteriovenous malformation|Vascular Tumors Including Pyogenic Granuloma|Primary low grade serous adenocarcinoma of ovary|Capillary malformation-arteriovenous malformation 1|Encephalocraniocutaneous lipomatosis|Gastric cancer|Atypical endometrial hyperplasia [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|MedGen:C3661900|MONDO:MONDO:0005138,MedGen:C0684249|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724||MedGen:C4302356|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0006096,MedGen:C0349579]; Endometrial hyperplasia without atypia [MONDO:MONDO:0006193,MedGen:C1516855]
12_GLY VAL ClinVar
chr12:25398284
rs121913529
Pathogenic - Carcinoma of pancreas|Nevus sebaceous|Juvenile myelomonocytic leukemia|Non-small cell lung carcinoma|not provided|Thyroid tumor|Neoplasm of ovary|Acute myeloid leukemia|Neoplasm of the large intestine|Cerebral arteriovenous malformation|Chronic myelogenous leukemia, BCR-ABL1 positive|Linear nevus sebaceous syndrome|Lung sarcomatoid carcinoma|RASopathy [MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:1333,Orphanet:217074|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:C3661900|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0002408,MONDO:MONDO:0007154,MedGen:C0917804,OMIM:108010,Orphanet:46724|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|MONDO:MONDO:0006279,MedGen:C1708781|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY SER ClinVar
chr12:25398285
rs121913530
Pathogenic - Gastric cancer|Non-small cell lung carcinoma|Neoplasm of ovary|Juvenile myelomonocytic leukemia|Thyroid tumor|Neoplasm of the large intestine|not provided|RASopathy [Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY VAL ClinVar
chr11:534288
rs104894230
Pathogenic - Malignant tumor of urinary bladder|Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus|not provided|Melanoma|Thyroid tumor|Inborn genetic diseases|HRAS-related condition [MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800,Orphanet:157980|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MeSH:D030342,MedGen:C0950123|]
12_GLY SER ClinVar
chr11:534289
rs104894229
Pathogenic - Costello syndrome|Myopathy, congenital, with excess of muscle spindles|Epidermal nevus with urothelial cancer, somatic|Nevus sebaceous|not provided|RASopathy|Nasopharyngeal neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Lung adenocarcinoma|Pancreatic adenocarcinoma|Acute myeloid leukemia|Breast neoplasm|Thyroid tumor|Gastric adenocarcinoma|Neoplasm of uterine cervix|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Papillary renal cell carcinoma, sporadic|Squamous cell carcinoma of the skin|Myelodysplastic syndrome|Adenoid cystic carcinoma|Glioblastoma|Carcinoma of esophagus|Multiple myeloma|Hepatocellular carcinoma|Neoplasm of the large intestine|Wooly hair nevus|Rhabdomyosarcoma|Lip and oral cavity carcinoma|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|See cases|HRAS-related condition|Noonan syndrome 1|Epidermal nevus [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0800299,MedGen:C1968782|MedGen:C3277679|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0006485,MedGen:C0280630|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0006046,MedGen:C0279663|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0019311,MedGen:C0343114,Orphanet:79414|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0023644,MedGen:C0220641|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|||MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414]
12_GLY ALA ClinVar
chr11:534288
rs104894230
Pathogenic - Costello syndrome|not provided|Adenoid cystic carcinoma|Neoplasm of the large intestine|Carcinoma of esophagus|Thyroid tumor|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Prostate adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Breast neoplasm|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Neoplasm of uterine cervix|Myelodysplastic syndrome|Nasopharyngeal neoplasm|Multiple myeloma|Lung adenocarcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Inborn genetic diseases|6 conditions|Rhabdomyosarcoma|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MONDO:MONDO:0006485,MedGen:C0280630|MeSH:C538614,MedGen:C1336078|MONDO:MONDO:0005082,MedGen:C0007112|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MeSH:D030342,MedGen:C0950123|6 conditions|Human Phenotype Ontology:HP:0002859,MONDO:MONDO:0005212,MeSH:D012208,MedGen:C0035412,Orphanet:780|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
12_GLY ASP ClinVar
chr11:534288
rs104894230
Pathogenic/Likely pathogenic - Costello syndrome, severe|Nevus sebaceous|Costello syndrome|RASopathy|not provided|Breast neoplasm|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome [MedGen:C4016398|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
12_GLY CYS ClinVar
chr11:534289
rs104894229
Pathogenic - Costello syndrome|Nevus sebaceous|Epidermal nevus|RASopathy|not provided|Hepatocellular carcinoma|Squamous cell carcinoma of the skin|Breast neoplasm|Acute myeloid leukemia|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Gastric adenocarcinoma|Lung adenocarcinoma|Thyroid tumor|Nasopharyngeal neoplasm|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Multiple myeloma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Glioblastoma|Neoplasm of uterine cervix|Urinary bladder carcinoma|Prostate adenocarcinoma|Adenoid cystic carcinoma|Pancreatic adenocarcinoma|6 conditions [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0010815,MedGen:C3854181|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MeSH:C538614,MedGen:C1336078|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100630,MONDO:MONDO:0005375,MeSH:D009303,MedGen:C0027439|MONDO:MONDO:0006046,MedGen:C0279663|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|MedGen:C0153574|MONDO:MONDO:0006485,MedGen:C0280630|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0002862,MONDO:MONDO:0004986,MedGen:C0699885|MONDO:MONDO:0005082,MedGen:C0007112|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|6 conditions]
12_GLY ASP ClinVar
chr1:115258747
rs121913237
Pathogenic/Likely pathogenic - Epidermal nevus|not provided|Juvenile myelomonocytic leukemia|Multiple myeloma|Melanoma|Acute myeloid leukemia|Malignant neoplasm of body of uterus|Myelodysplastic syndrome|Neoplasm of the large intestine|Gastric adenocarcinoma|Non-small cell lung carcinoma|Malignant melanoma of skin|Noonan syndrome 6|Noonan syndrome and Noonan-related syndrome|RASopathy|Autoimmune lymphoproliferative syndrome type 4|NRAS-related condition [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MedGen:C3661900|Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MedGen:C0153574|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|]
12_GLY CYS ClinVar
chr1:115258748
rs121913250
Pathogenic - not provided|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Acute myeloid leukemia|Non-small cell lung carcinoma|Malignant melanoma of skin|Melanoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Chronic myelogenous leukemia, BCR-ABL1 positive [MedGen:C3661900|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521]
12_GLY ARG ClinVar
chr1:115258748
rs121913250
Pathogenic - not provided|Gastric adenocarcinoma|Melanoma|Multiple myeloma|Acute myeloid leukemia|Chronic myelogenous leukemia, BCR-ABL1 positive|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Myelodysplastic syndrome|Non-small cell lung carcinoma|Malignant melanoma of skin|Increased nuchal translucency|Noonan syndrome 6 [MedGen:C3661900|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0005506,Human Phenotype Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0010880,MedGen:C4023676|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
12_GLY VAL ClinVar
chr1:115258747
rs121913237
Pathogenic/Likely pathogenic - Noonan syndrome|not provided|Melanoma|Acute myeloid leukemia|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Multiple myeloma|Gastric adenocarcinoma|Myelodysplastic syndrome|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
12_GLY ALA ClinVar
chr12:25398284
rs121913529
Likely pathogenic - Neoplasm of the large intestine|Neoplasm of ovary|Lung adenocarcinoma|Gastrointestinal stromal tumor|Multiple myeloma|not provided|Gallbladder cancer|KRAS-related condition|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C3661900|MONDO:MONDO:0005411,MedGen:C0153452||Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
12_GLY SER ClinVar
chr1:115258748
rs121913250
Pathogenic - Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834]; Noonan syndrome|not provided|Melanoma|Malignant melanoma of skin|Multiple myeloma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Non-small cell lung carcinoma|Myelodysplastic syndrome|RASopathy|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
12_GLY ALA ClinVar
chr1:115258747
rs121913237
Pathogenic/Likely pathogenic - Myelodysplastic syndrome progressed to acute myeloid leukemia|not provided|Acute myeloid leukemia|Non-small cell lung carcinoma|Multiple myeloma|Melanoma|Malignant melanoma of skin|Myelodysplastic syndrome|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|RASopathy|Noonan syndrome and Noonan-related syndrome [MedGen:CN234857|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C0153574|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
12_GLY ARG ClinVar
chr11:534289
rs104894229
Likely pathogenic - Thyroid tumor|Neoplasm of the large intestine|Costello syndrome [Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
13_GLY ARG VAR_006845 rs121434595
US - Colorectal cancer
13_GLY ASP VAR_063084 rs121434596
LP/P - Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]
13_GLY ARG ClinVar
chr12:25398282
rs121913535
Pathogenic - Pilocytic astrocytoma|Non-small cell lung carcinoma|Neoplasm of the large intestine|Thyroid tumor|not provided [Human Phenotype Ontology:HP:0033680,MONDO:MONDO:0016691,MedGen:C0334583,Orphanet:251612|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|MedGen:CN517202]
13_GLY ASP ClinVar
chr11:534285
rs104894226
Pathogenic - Costello syndrome|not provided|Neoplasm of the large intestine|RASopathy|Non-immune hydrops fetalis|Noonan syndrome and Noonan-related syndrome|6 conditions|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|6 conditions|]
13_GLY CYS ClinVar
chr11:534286
rs104894228
Pathogenic - Costello syndrome|RASopathy|not provided|Lung adenocarcinoma|Multiple myeloma|Thyroid tumor|Breast neoplasm|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|B-cell chronic lymphocytic leukemia|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Squamous cell carcinoma of the skin|Acute myeloid leukemia|Neoplasm of the large intestine|Neoplasm of uterine cervix|Gastric adenocarcinoma|Neoplasm|Hepatocellular carcinoma|Noonan syndrome|6 conditions|Noonan syndrome and Noonan-related syndrome|HRAS-related condition [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MedGen:C0153574|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|6 conditions|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|]
13_GLY ARG ClinVar
chr1:115258745
rs121434595
Likely pathogenic - Carcinoma of colon|Large congenital melanocytic nevus|Medulloblastoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Melanoma|Acute myeloid leukemia|Multiple myeloma|Myelodysplastic syndrome|Neoplasm of the large intestine|Malignant melanoma of skin|Noonan syndrome 6 [MONDO:MONDO:0002032,MedGen:C0699790|Human Phenotype Ontology:HP:0005600,Human Phenotype Ontology:HP:0005604,MONDO:MONDO:0044792,MedGen:C1842036,OMIM:137550,Orphanet:626|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
13_GLY ASP ClinVar
chr1:115258744
rs121434596
Pathogenic/Likely pathogenic - Juvenile myelomonocytic leukemia|Noonan syndrome 6|Autoimmune lymphoproliferative syndrome type 4|not provided|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Medulloblastoma|Gastric adenocarcinoma|Myelodysplastic syndrome|Melanoma|Multiple myeloma|Neoplasm of the large intestine|Acute myeloid leukemia|Non-Hodgkin lymphoma|Acute megakaryoblastic leukemia in down syndrome [Human Phenotype Ontology:HP:0012209,MONDO:MONDO:0011908,MedGen:C0349639,OMIM:607785,Orphanet:86834|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MedGen:CN517202|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0020526,MedGen:CN207426,Orphanet:99887]
13_GLY ARG ClinVar
chr11:534286
rs104894228
Pathogenic/Likely pathogenic - Linear nevus sebaceous syndrome|Nevus sebaceous|NEVUS SPILUS, SOMATIC|Epidermal nevus|Squamous cell lung carcinoma|Hepatocellular carcinoma|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Neoplasm of uterine cervix|SPITZ NEVUS, SOMATIC|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Multiple myeloma|Thyroid tumor|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Breast neoplasm|Acute myeloid leukemia|Lip and oral cavity carcinoma|Non-immune hydrops fetalis|Costello syndrome|Noonan syndrome and Noonan-related syndrome|Epidermolytic nevus|cutaneous-skeletal hypophosphatemia syndrome [Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612|Human Phenotype Ontology:HP:0010815,MedGen:C3854181||Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873||MedGen:C0153574|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0023644,MedGen:C0220641|Human Phenotype Ontology:HP:0001790,MONDO:MONDO:0009369,MedGen:C0455988,OMIM:236750,Orphanet:363999|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0044656,MedGen:C1302848,Orphanet:497737|]
13_GLY CYS ClinVar
chr1:115258745
rs121434595
Pathogenic - Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202]
13_GLY CYS ClinVar
chr12:25398282
rs121913535
Pathogenic/Likely pathogenic - Non-small cell lung carcinoma|Autoimmune lymphoproliferative syndrome type 4|Neoplasm of the large intestine|not provided|KRAS-related disorders [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:CN517202|]
13_GLY VAL ClinVar
chr12:25398281
rs112445441
Pathogenic - Thyroid tumor|Neoplasm of the large intestine|not provided|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MedGen:C3661900|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
13_GLY GLY ClinVar
chr12:25398280
rs397517040
Likely pathogenic - Non-small cell lung carcinoma|not provided|Prostate cancer, hereditary, 1 [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MedGen:CN517202|MONDO:MONDO:0011098,MedGen:C4722327,OMIM:601518,Orphanet:1331]
13_GLY GLY ClinVar
chr12:25398280
rs397517040
Likely pathogenic - Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
13_GLY VAL ClinVar
chr11:534285
rs104894226
Pathogenic - not provided|Acute myeloid leukemia|Lung adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Neoplasm of uterine cervix|B-cell chronic lymphocytic leukemia|Hepatocellular carcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Thymoma|Breast neoplasm|Costello syndrome|Gastric adenocarcinoma|Malignant melanoma of skin|Malignant neoplasm of body of uterus|KA-like vemurafenib-induced squamous lesions|Lip and oral cavity carcinoma [MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100522,MONDO:MONDO:0006456,MeSH:D013945,MedGen:C0040100,Orphanet:99867|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574||MONDO:MONDO:0023644,MedGen:C0220641]
13_GLY VAL ClinVar
chr1:115258744
rs121434596
Pathogenic/Likely pathogenic - Neoplasm|Melanoma|Multiple myeloma|Malignant melanoma of skin|Acute myeloid leukemia|Medulloblastoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Non-Hodgkin lymphoma|Myelodysplastic syndrome|Neoplasm of the large intestine [Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0012539,MONDO:MONDO:0018908,MedGen:C0024305,Orphanet:547|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404]
13_GLY ALA ClinVar
chr1:115258744
rs121434596
Pathogenic - Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202]
13_GLY ALA ClinVar
chr12:25398281
rs112445441
Pathogenic - Neoplasm of the large intestine|Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
13_GLY SER ClinVar
chr12:25398282
rs121913535
Pathogenic - Neoplasm of the large intestine|Non-small cell lung carcinoma|Thyroid tumor [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|Human Phenotype Ontology:HP:0100031,MONDO:MONDO:0015074,MeSH:D013964,MedGen:C0040136,Orphanet:100087]
13_GLY SER ClinVar
chr1:115258745
rs121434595
Likely pathogenic - Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356]
13_GLY SER ClinVar
chr11:534286
rs104894228
Likely pathogenic - Malignant melanoma of skin|Neoplasm|Breast neoplasm|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Vascular Tumors Including Pyogenic Granuloma|Costello syndrome [Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782||MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
13_GLY ALA ClinVar
chr11:534285
rs104894226
Likely pathogenic - Acute myeloid leukemia|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Neoplasm of uterine cervix|Lung adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0005550,Human Phenotype Ontology:HP:0006734,Human Phenotype Ontology:HP:0006760,MONDO:MONDO:0004948,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:67038|Human Phenotype Ontology:HP:0006725,MONDO:MONDO:0006047,MedGen:C0281361|MedGen:C0153574|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673]
14_VAL ILE ClinVar
chr12:25398279
rs104894365
Pathogenic - Noonan syndrome 3|Endometrial carcinoma|RASopathy|not provided|Noonan syndrome|Noonan syndrome [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
15_GLY VAL ClinVar
chr12:25398275
rs1555195579
Likely pathogenic - not provided [MedGen:CN517202]
18_ALA THR ClinVar
chr1:115258730
rs121913248
Likely pathogenic - Melanoma [Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202]
18_ALA VAL ClinVar
chr12:25398266
rs2135806030
Pathogenic - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
19_LEU PHE ClinVar
chr12:25398262
rs121913538
Pathogenic - OCULOECTODERMAL SYNDROME, SOMATIC|Angiosarcoma|Encephalocraniocutaneous lipomatosis|RASopathy [|Human Phenotype Ontology:HP:0200058,MONDO:MONDO:0016982,MeSH:D006394,MedGen:C0018923,Orphanet:263413|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
19_LEU PHE ClinVar
chr12:25398262
rs121913538
Likely pathogenic - Angiosarcoma|not provided [Human Phenotype Ontology:HP:0200058,MONDO:MONDO:0016982,MeSH:D006394,MedGen:C0018923,Orphanet:263413|MedGen:CN517202]
22_GLN LYS ClinVar
chr11:534259
rs121917757
Likely pathogenic - Myopathy, congenital, with excess of muscle spindles|Costello syndrome|not provided [MONDO:MONDO:0800299,MedGen:C1968782|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900]
22_GLN GLU ClinVar
chr12:25398255
rs121913236
Pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
22_GLN ARG ClinVar
chr12:25398254
rs727503110
Pathogenic - Noonan syndrome|not provided|RASopathy|not specified|Noonan syndrome 3 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]; Cardiofaciocutaneous syndrome 2|Hereditary diffuse gastric adenocarcinoma|Noonan syndrome 3|12 conditions [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0007648,MedGen:C1708349,OMIM:137215,Orphanet:26106|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|12 conditions]
22_GLN LEU ClinVar
chr12:25398254
rs727503110
Pathogenic - not provided [MedGen:CN517202]
22_GLN LYS ClinVar
chr12:25398255
rs121913236
Likely pathogenic - Neoplasm of the large intestine|Linear nevus sebaceous syndrome [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0010817,MONDO:MONDO:0008097,MedGen:C4552097,OMIM:163200,Orphanet:2612]
23_LEU ARG ClinVar
chr12:25398251
rs730880472
Likely pathogenic - not provided [MedGen:CN517202]
24_ILE ASN ClinVar
chr1:115258711
rs869025573
Pathogenic - Noonan syndrome 1|not provided [MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MedGen:C3661900]
25_GLN GLU 8.3kJPN
chr12:25398246
-
- 0.0001 -
34_PRO LEU VAR_071130 rs397514553
LP/P - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
34_PRO ARG ClinVar
chr12:25398218
rs104894366
Pathogenic/Likely pathogenic - Cardiofaciocutaneous syndrome 2|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|not provided|Acute myeloid leukemia [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]; Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; Autoimmune lymphoproliferative syndrome type 4|RASopathy [MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
34_PRO LEU ClinVar
chr1:115258681
rs397514553
Pathogenic - Epidermal nevus|Noonan syndrome 1 [Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900,Orphanet:79414|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
34_PRO LEU ClinVar
chr12:25398218
rs104894366
Pathogenic - Noonan syndrome|RASopathy|not provided|Noonan syndrome 3|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
34_PRO GLN ClinVar
chr12:25398218
-
Likely pathogenic - KRAS-related condition [-]
36_ILE MET ClinVar
chr12:25398211
rs727503109
Pathogenic/Likely pathogenic - RASopathy|not provided|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Cardiofaciocutaneous syndrome 1|Cardiovascular phenotype [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0007265,MedGen:CN029449,OMIM:115150,Orphanet:1340|MedGen:CN230736]
36_ILE MET ClinVar
chr1:115258674
rs2101743991
Likely pathogenic - Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
50_THR ILE VAR_063085 rs267606921
LP/P - Noonan syndrome 6 (NS6) [MIM:613224]
50_THR ILE ClinVar
chr1:115256562
rs267606921
Pathogenic - Noonan syndrome 6|Noonan syndrome|Noonan syndrome 1|RASopathy [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
50_THR PRO ClinVar
chr12:25380310
-
Likely pathogenic - not provided [MedGen:CN517202]
58_THR ILE ClinVar
chr12:25380285
rs104894364
Pathogenic - Noonan syndrome 3|not provided|Noonan syndrome|RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
58_THR ILE ClinVar
chr11:533883
rs121917758
Pathogenic - Costello syndrome|not provided [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900]
58_THR ILE ClinVar
chr1:115256538
rs2101742052
Pathogenic/Likely pathogenic - RASopathy|Noonan syndrome and Noonan-related syndrome|not provided|Colorectal cancer|Noonan syndrome 1 [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
59_ALA THR ClinVar
chr12:25380283
rs121913528
Pathogenic/Likely pathogenic - Bladder cancer, transitional cell, somatic|Neoplasm of the large intestine [MedGen:C4016403|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404]
59_ALA THR ClinVar
chr11:533881
rs727503093
Likely pathogenic - Non-small cell lung carcinoma|Costello syndrome [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
59_ALA THR ClinVar
chr1:115256536
rs730880965
Pathogenic/Likely pathogenic - not provided|Noonan syndrome 6 [MedGen:CN517202|MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
59_ALA SER ClinVar
chr12:25380283
rs121913528
Pathogenic/Likely pathogenic - not provided [MedGen:C3661900]
59_ALA ASP ClinVar
chr1:115256535
-
Likely pathogenic - Anemia|Noonan syndrome [Human Phenotype Ontology:HP:0001903,Human Phenotype Ontology:HP:0001926,Human Phenotype Ontology:HP:0003136,Human Phenotype Ontology:HP:0005509,MONDO:MONDO:0002280,MedGen:C0002871|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
59_ALA GLY ClinVar
chr11:533880
-
Pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
60_GLY GLU VAR_063086 rs267606920
LP/P - Noonan syndrome 6 (NS6) [MIM:613224]
60_GLY ARG ClinVar
chr12:25380280
rs104894359
Pathogenic - Cardiofaciocutaneous syndrome 2|RASopathy|not provided|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Inborn genetic diseases|Noonan syndrome 3 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
60_GLY SER ClinVar
chr12:25380280
rs104894359
Pathogenic - Noonan syndrome 3|not provided|RASopathy|Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]
60_GLY GLU ClinVar
chr1:115256532
rs267606920
Pathogenic - Noonan syndrome 6|not provided|Noonan syndrome 1|RASopathy|NRAS-related condition [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|]
60_GLY ASP ClinVar
chr11:533877
rs730880460
Pathogenic - not provided|Costello syndrome [MedGen:C3661900|MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
60_GLY VAL ClinVar
chr12:25380279
rs727503108
Pathogenic/Likely pathogenic - Non-small cell lung carcinoma|Cardio-facio-cutaneous syndrome [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|not provided|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
60_GLY VAL ClinVar
chr11:533877
rs730880460
Pathogenic - not provided|6 conditions [MedGen:C3661900|6 conditions]
60_GLY ARG ClinVar
chr1:115256533
rs1557982817
Likely pathogenic - not provided [MedGen:CN517202]
60_GLY SER ClinVar
chr11:533878
rs1589792804
Likely pathogenic - Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
60_GLY VAL ClinVar
chr1:115256532
rs267606920
Likely pathogenic - Noonan syndrome and Noonan-related syndrome [MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733]
72_MET LEU ClinVar
chr12:25380244
rs727504662
Pathogenic/Likely pathogenic - Noonan syndrome|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
72_MET LEU ClinVar
chr12:25380244
rs727504662
Likely pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
74_THR ILE ClinVar
chr12:25380237
rs1951405479
Likely pathogenic - Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
85_ASN SER 8.3kJPN
chr1:115256457
rs114636410
- 0.0002 -
86_ASN THR gnomAD
chr11:533799
rs138272051
- 0.000183051 -
86_ASN THR 8.3kJPN
chr11:533799
rs138272051
- 0.0001 -
88_LYS ARG 8.3kJPN
chr11:533793
-
- 0.0001 -
89_SER CYS ClinVar
chr11:533790
rs755322824
Likely pathogenic - not provided [MedGen:CN517202]
90_PHE SER 8.3kJPN
chr11:533787
-
- 0.0002 -
95_LEU PRO 8.3kJPN
chr1:115256427
-
- 0.0001 -
97_ARG LYS ClinVar
chr12:25380168
rs727503106
Likely pathogenic - Non-small cell lung carcinoma [Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131]
111_MET VAL 8.3kJPN
chr1:115252309
rs776195467
- 0.0001 -
112_VAL ILE 8.3kJPN
chr12:25378664
rs775836436
- 0.0001 -
116_ASN HIS ClinVar
chr12:25378652
rs2141506264
Likely pathogenic - not provided [MedGen:C3661900]
117_LYS ARG ClinVar
chr11:533553
rs104894227
Pathogenic - Costello syndrome|not provided [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|MedGen:C3661900]
117_LYS ASN ClinVar
chr12:25378647
rs770248150
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404]
117_LYS ASN ClinVar
chr12:25378647
rs770248150
Pathogenic - Neoplasm of the large intestine|Carcinoma of esophagus|Malignant melanoma of skin|Multiple myeloma|Hepatocellular carcinoma|Gastric adenocarcinoma|not provided|Encephalocraniocutaneous lipomatosis [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|MedGen:C3661900|MONDO:MONDO:0013074,MedGen:C0406612,OMIM:613001,Orphanet:2396]
118_CYS TYR 8.3kJPN
chr12:25378645
-
- 0.0001 -
119_ASP ASN ClinVar
chr12:25378643
rs730880471
Likely pathogenic - not provided|Noonan syndrome 3|Autoimmune lymphoproliferative syndrome type 4 [MedGen:CN517202|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114]; Acute myeloid leukemia [Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519]; Cardiofaciocutaneous syndrome 2 [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340]; Noonan syndrome 3|KRAS-related RASopathy [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|]
122_ALA VAL 8.3kJPN
chr11:533538
rs779711606
- 0.0001 -
122_ALA THR 8.3kJPN
chr11:533539
-
- 0.0001 -
141_PHE VAL 8.3kJPN
chr1:115252219
-
- 0.0001 -
146_ALA THR ClinVar
chr11:533467
rs104894231
Pathogenic/Likely pathogenic - Costello syndrome|Multiple myeloma|Neoplasm of the large intestine|Gastric adenocarcinoma|Acute myeloid leukemia|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
146_ALA VAL ClinVar
chr11:533466
rs121917759
Likely pathogenic - Costello syndrome|Neoplasm of the large intestine|Acute myeloid leukemia|Gastric adenocarcinoma|Multiple myeloma|Neoplasm of uterine cervix|Lung adenocarcinoma [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013]
146_ALA PRO ClinVar
chr12:25378562
rs121913527
Pathogenic/Likely pathogenic - Neoplasm of the large intestine|Multiple myeloma|Autoimmune lymphoproliferative syndrome type 4|RASopathy [Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|MONDO:MONDO:0013767,MedGen:C2674723,OMIM:614470,Orphanet:268114|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
146_ALA PRO ClinVar
chr11:533467
rs104894231
Likely pathogenic - Neoplasm of uterine cervix|Acute myeloid leukemia|Neoplasm of the large intestine|Multiple myeloma|Lung adenocarcinoma|Gastric adenocarcinoma [Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0001914,Human Phenotype Ontology:HP:0004808,Human Phenotype Ontology:HP:0004843,Human Phenotype Ontology:HP:0005516,Human Phenotype Ontology:HP:0006724,Human Phenotype Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0006775,MONDO:MONDO:0009693,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:29073,Orphanet:85443|Human Phenotype Ontology:HP:0030078,MONDO:MONDO:0005061,MeSH:D000077192,MedGen:C0152013|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701]
147_LYS GLU ClinVar
chr12:25378559
rs387907206
Pathogenic/Likely pathogenic - Cardiofaciocutaneous syndrome 2|not provided [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:CN517202]
147_LYS ARG ClinVar
chr12:25378558
rs1135401776
Pathogenic - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
147_LYS MET ClinVar
chr12:25378558
-
Likely pathogenic - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
147_LYS ASN ClinVar
chr12:25378557
-
Likely pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
149_ARG TER ClinVar
chr12:25378553
rs2141505552
Likely pathogenic - Thyroid cancer, nonmedullary, 1 [MONDO:MONDO:0008567,MedGen:C4721429,OMIM:188550]
150_GLN ARG ClinVar
chr1:115252191
rs2101738598
Likely pathogenic - Noonan syndrome 6 [MONDO:MONDO:0013186,MedGen:C2750732,OMIM:613224,Orphanet:648]
152_VAL GLY ClinVar
chr12:25362841
rs104894367
Pathogenic - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
152_VAL PHE ClinVar
chr12:25362842
rs397517041
Likely pathogenic - Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
153_ASP VAL ClinVar
chr12:25362838
rs104894360
Pathogenic - Noonan syndrome 3|Cardiofaciocutaneous syndrome 2|RASopathy|not provided|not specified|Noonan syndrome|11 conditions|Cardio-facio-cutaneous syndrome [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648|MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|11 conditions|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340]; Noonan syndrome|Inborn genetic diseases|Noonan syndrome 1 [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008104,MedGen:C4551602,OMIM:163950,Orphanet:648]
153_ASP GLY ClinVar
chr12:25362838
rs104894360
Pathogenic/Likely pathogenic - Noonan syndrome|not provided|RASopathy [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
153_ASP ASN ClinVar
chr12:25362839
rs1565878932
Pathogenic - not provided [MedGen:CN517202]
153_GLU VAL ClinVar
chr12:25368487
rs1592798693
Likely pathogenic - Noonan syndrome 3 [MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
153_GLU ALA ClinVar
chr12:25368487
rs1592798693
Likely pathogenic - Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]
154_ASP GLY ClinVar
chr12:25362835
rs2141481712
Likely pathogenic - Hereditary breast ovarian cancer syndrome [MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145]
156_PHE LEU ClinVar
chr12:25362828
rs104894362
Pathogenic - Cardiofaciocutaneous syndrome 2|not provided|RASopathy|KRAS-related condition [MONDO:MONDO:0014112,MedGen:C3809005,OMIM:615278,Orphanet:1340|MedGen:C3661900|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|]
156_PHE VAL ClinVar
chr12:25362830
rs397517042
Pathogenic/Likely pathogenic - Noonan syndrome|not provided [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:CN517202]
156_PHE ILE ClinVar
chr12:25362830
rs397517042
Pathogenic - Noonan syndrome [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648]; Cardio-facio-cutaneous syndrome|not provided|Noonan syndrome 3 [MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MedGen:CN517202|MONDO:MONDO:0012371,MedGen:C1860991,OMIM:609942,Orphanet:648]
156_PHE LEU ClinVar
chr11:532738
rs770648642
Pathogenic - not provided [MedGen:C3661900]
156_PHE LEU ClinVar
chr11:532740
rs2133982557
Pathogenic - Costello syndrome [MONDO:MONDO:0009026,MedGen:C0587248,OMIM:218040,Orphanet:3071]
156_PHE SER ClinVar
chr12:25362829
-
Likely pathogenic - RASopathy [MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391]
159_LEU SER 8.3kJPN
chr12:25368469
-
- 0.0001 -
161_ARG GLY 8.3kJPN
chr11:532725
-
- 0.0001 -
162_GLU ASP 8.3kJPN
chr12:25368459
-
- 0.0001 -
163_ILE VAL 8.3kJPN
chr12:25368458
-
- 0.0001 -
164_ARG HIS 8.3kJPN
chr1:115251235
rs758669528
- 0.0005 -
164_ARG GLN 8.3kJPN
chr11:532715
rs753977266
- 0.0001 -
164_ARG TER 8.3kJPN
chr12:25368455
rs200186819
- 0.0001 -
166_TYR HIS 8.3kJPN
chr12:25368449
rs397517476
- 0.0002 -
167_ARG TER 8.3kJPN
chr1:115251227
-
- 0.0001 -
(Powered by wupsivus)

Reference

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

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