PDB ID 121P     CHAIN A
Protein name H-RAS P21 PROTEIN
Uniprot Accession P01112
The number of similar proteins 322
The number of binding states 24
The number of binding partners 19

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer

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

Sequence information

1   MTEYKLVVVG   AGGVGKSALT   IQLIQNHFVD   EYDPTIEDSY   RKQVVIDGET   50
51   CLLDILDTAG   QEEYSAMRDQ   YMRTGEGFLC   VFAINNTKSF   EDIHQYREQI   100
101   KRVKDSDDVP   MVLVGNKCDL   AARTVESRQA   QDLARSYGIP   YIETSAKTRQ   150
151   GVEDAFYTLV   REIRQH         200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
5_LYS ASN ClinVar
chr12:25398304
rs104894361
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
5_LYS GLU ClinVar
chr12:25398306
rs193929331
Likely pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
5_LYS ASN ClinVar
chr12:25398304
rs104894361
Pathogenic - not provided [MedGen:CN517202]
12_GLY VAL VAR_006836 rs104894230
Unclassified - Bladder carcinoma
12_GLY SER VAR_006837 rs104894229
Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
12_GLY ALA VAR_026106 rs104894230
Disease - Costello syndrome (CSTLO) [MIM:218040]
12_GLY CYS VAR_045975 rs104894229
Disease - Costello syndrome (CSTLO) [MIM:218040]
12_GLY GLU VAR_045976 -
Disease - Costello syndrome (CSTLO) [MIM:218040]
12_GLY ASP VAR_068816 rs104894230
Disease - Costello syndrome (CSTLO) [MIM:218040]
12_GLY CYS ClinVar
chr12:25398285
rs121913530
Pathogenic/Likely pathogenic - Endometrial carcinoma [Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Lung cancer [MedGen:C0684249,OMIM:211980,SNOMED CT:187875007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]
12_GLY ARG ClinVar
chr12:25398285
rs121913530
Pathogenic - Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Bladder cancer, somatic [MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
12_GLY ASP ClinVar
chr12:25398284
rs121913529
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Carcinoma of pancreas [MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002]; Cerebral arteriovenous malformation [Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Lung cancer [MedGen:C0684249,OMIM:211980,SNOMED CT:187875007]; Neoplasm of ovary [Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001]; Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; Vascular Tumors Including Pyogenic Granuloma [na]; not provided [MedGen:CN517202]
12_GLY VAL ClinVar
chr12:25398284
rs121913529
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Carcinoma of pancreas [MeSH:C562463,MedGen:C0235974,OMIM:260350,Orphanet:ORPHA217074,SNOMED CT:372142002]; Cerebral arteriovenous malformation [Human Phenotype Ontology:HP:0002408,MedGen:C0917804,OMIM:108010,SNOMED CT:234142008]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; not provided [MedGen:CN517202]
12_GLY SER ClinVar
chr12:25398285
rs121913530
Pathogenic - Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Neoplasm of ovary [Gene:6765,Human Phenotype Ontology:HP:0100615,MedGen:C0919267,OMIM:167000,SNOMED CT:123843001]; Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
12_GLY VAL ClinVar
chr11:534288
rs104894230
Pathogenic - Bladder cancer, somatic [MedGen:C0005684,OMIM:109800,Orphanet:ORPHA157980,SNOMED CT:399326009]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; not provided [MedGen:CN517202]
12_GLY SER ClinVar
chr11:534289
rs104894229
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]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Epidermal nevus with urothelial cancer, somatic [MedGen:C3277679]; 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]; 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]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Nevus, woolly hair [MedGen:C0343114,Orphanet:ORPHA79414]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; 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]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
12_GLY ALA ClinVar
chr11:534288
rs104894230
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]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; 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]; Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; 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]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
12_GLY ASP ClinVar
chr11:534288
rs104894230
Pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Costello syndrome, severe [MedGen:C4016398]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
12_GLY CYS ClinVar
chr11:534289
rs104894229
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]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Bladder carcinoma [Human Phenotype Ontology:HP:0002862,MedGen:C0699885]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; 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]; 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]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; 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]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
12_GLY ASP ClinVar
chr1:115258747
rs121913237
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
12_GLY CYS ClinVar
chr1:115258748
rs121913250
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
12_GLY ARG ClinVar
chr1:115258748
rs121913250
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]; Chronic myelogenous leukemia [Human Phenotype Ontology:HP:0005506,MeSH:D015464,MedGen:C0023473,OMIM:608232,Orphanet:ORPHA521]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
12_GLY VAL ClinVar
chr1:115258747
rs121913237
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
12_GLY ALA ClinVar
chr12:25398284
rs121913529
Pathogenic/Likely pathogenic - Gastrointestinal stroma tumor [Human Phenotype Ontology:HP:0100723,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:ORPHA44890]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]
12_GLY SER ClinVar
chr1:115258748
rs121913250
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
12_GLY ALA ClinVar
chr1:115258747
rs121913237
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Myelodysplastic syndrome [MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688]; Myelodysplastic syndrome progressed to acute myeloid leukemia [MedGen:CN234857]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; not provided [MedGen:CN517202]
12_GLY ARG ClinVar
chr11:534289
rs104894229
Pathogenic/Likely pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]
13_GLY CYS VAR_026107 rs104894228
Disease - Costello syndrome (CSTLO) [MIM:218040]
13_GLY ASP VAR_026108 rs104894226
Disease - Costello syndrome (CSTLO) [MIM:218040]
13_GLY ARG VAR_068817 rs104894228
Disease - Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
13_GLY ASP ClinVar
chr12:25398281
rs112445441
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Ovarian Neoplasms [MeSH:D010051,MedGen:CN236629]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]
13_GLY ARG ClinVar
chr12:25398282
rs121913535
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Pilocytic astrocytoma [MedGen:C0334583,Orphanet:ORPHA251612]
13_GLY ASP ClinVar
chr11:534285
rs104894226
Pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; not provided [MedGen:CN517202]
13_GLY CYS ClinVar
chr11:534286
rs104894228
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; 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]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; 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 cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
13_GLY ARG ClinVar
chr1:115258745
rs121434595
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 colon [MedGen:C0699790,OMIM:114500,SNOMED CT:269533000]; Congenital giant melanocytic nevus [Human Phenotype Ontology:HP:0005600,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; 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 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
13_GLY ASP ClinVar
chr1:115258744
rs121434596
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Juvenile myelomonocytic leukemia [Human Phenotype Ontology:HP:0012209,MedGen:C0349639,OMIM:607785,Orphanet:ORPHA86834]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; 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 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]; Noonan syndrome 6 [MedGen:C2750732,OMIM:613224]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
13_GLY ARG ClinVar
chr11:534286
rs104894228
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; NEVUS SPILUS, SOMATIC [na]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Nevus sebaceous [Human Phenotype Ontology:HP:0010815,MedGen:C3854181,Orphanet:ORPHA2612]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; SPITZ NEVUS, SOMATIC [na]; 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 cervical neoplasms [MeSH:D002583,MedGen:CN236667]
13_GLY CYS ClinVar
chr1:115258745
rs121434595
Pathogenic - Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]
13_GLY CYS ClinVar
chr12:25398282
rs121913535
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; RAS-associated autoimmune leukoproliferative disorder [MedGen:C2674723,OMIM:614470,Orphanet:ORPHA268114]; not provided [MedGen:CN517202]
13_GLY VAL ClinVar
chr11:534285
rs104894226
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; 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]; 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]; 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]; Thymoma [Human Phenotype Ontology:HP:0100522,MeSH:D013945,MedGen:C0040100,Orphanet:ORPHA99867]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
13_GLY VAL ClinVar
chr1:115258744
rs121434596
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]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; 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 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
13_GLY ALA ClinVar
chr1:115258744
rs121434596
Pathogenic - Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]
13_GLY ALA ClinVar
chr12:25398281
rs112445441
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
13_GLY SER ClinVar
chr12:25398282
rs121913535
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
13_GLY SER ClinVar
chr1:115258745
rs121434595
Likely pathogenic - Neoplasm of stomach [Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:126824007]
13_GLY SER ClinVar
chr11:534286
rs104894228
Likely pathogenic - Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; 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]; 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]; Vascular Tumors Including Pyogenic Granuloma [na]
13_GLY ALA ClinVar
chr11:534285
rs104894226
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]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; 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]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
14_VAL ILE ClinVar
chr12:25398279
rs104894365
Pathogenic - Endometrial carcinoma [Human Phenotype Ontology:HP:0012114,MedGen:C0476089,OMIM:608089,SNOMED CT:254878006]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
15_GLY VAL ClinVar
chr12:25398275
rs1555195579
Likely pathogenic - not provided [MedGen:CN517202]
18_ALA THR ClinVar
chr1:115258730
rs121913248
Likely pathogenic - Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]
19_LEU PHE ClinVar
chr12:25398262
rs121913538
Likely pathogenic - Angiosarcoma [Human Phenotype Ontology:HP:0200058,MeSH:D006394,MedGen:C0018923,Orphanet:ORPHA263413]
22_GLN LYS VAR_045977 rs121917757
Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
22_GLN LYS ClinVar
chr11:534259
rs121917757
Likely pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; not provided [MedGen:CN517202]
22_GLN GLU ClinVar
chr12:25398255
rs121913236
Pathogenic - Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]
22_GLN ARG ClinVar
chr12:25398254
rs727503110
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
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 [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
23_LEU ARG ClinVar
chr12:25398251
rs730880472
Likely pathogenic - not provided [MedGen:CN517202]
24_ILE ASN ClinVar
chr1:115258711
rs869025573
Pathogenic - Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; not provided [MedGen:CN517202]
25_GLN GLU 4.7kJPN
chr12:25398246
-
- 0.0001 -
34_PRO ARG ClinVar
chr12:25398218
rs104894366
Pathogenic/Likely pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
34_PRO LEU ClinVar
chr1:115258681
rs397514553
Pathogenic - Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]
34_PRO LEU ClinVar
chr12:25398218
rs104894366
Pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
36_ILE MET ClinVar
chr12:25398211
rs727503109
Likely pathogenic - Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
43_GLN TER ClinVar
chr1:115256584
rs1553244454
Likely pathogenic - not provided [MedGen:CN517202]
46_ILE THR ClinVar
chr11:533919
-
Likely pathogenic - not provided [MedGen:CN517202]
49_GLU LYS ClinVar
chr11:533911
rs1277340795
Likely pathogenic - Vascular Tumors Including Pyogenic Granuloma [na]
50_THR ILE ClinVar
chr1:115256562
rs267606921
Pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 6 [MedGen:C2750732,OMIM:613224]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]
58_THR ILE VAR_045978 rs121917758
Disease - Costello syndrome (CSTLO) [MIM:218040]
58_THR ILE ClinVar
chr12:25380285
rs104894364
Pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
58_THR ILE ClinVar
chr11:533883
rs121917758
Pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]
59_ALA THR ClinVar
chr12:25380283
rs121913528
Pathogenic/Likely pathogenic - Bladder cancer, transitional cell, somatic [MedGen:C4016403]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
59_ALA THR ClinVar
chr11:533881
rs727503093
Likely pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
59_ALA THR ClinVar
chr1:115256536
rs730880965
Likely pathogenic - not provided [MedGen:CN517202]
59_ALA SER ClinVar
chr12:25380283
rs121913528
Likely pathogenic - not provided [MedGen:CN517202]
60_GLY ARG ClinVar
chr12:25380280
rs104894359
Pathogenic - Cardio-facio-cutaneous syndrome [MedGen:C1275081,Orphanet:ORPHA1340,SNOMED CT:403770008]; Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
60_GLY SER ClinVar
chr12:25380280
rs104894359
Pathogenic - Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
60_GLY GLU ClinVar
chr1:115256532
rs267606920
Pathogenic - Noonan syndrome 1 [MedGen:C4551602,OMIM:163950]; Noonan syndrome 6 [MedGen:C2750732,OMIM:613224]; not provided [MedGen:CN517202]
60_GLY ASP ClinVar
chr11:533877
rs730880460
Pathogenic - not provided [MedGen:CN517202]
60_GLY VAL ClinVar
chr12:25380279
rs727503108
Pathogenic/Likely pathogenic - Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
60_GLY VAL ClinVar
chr11:533877
rs730880460
Pathogenic - not provided [MedGen:CN517202]
60_GLY ARG ClinVar
chr1:115256533
-
Likely pathogenic - not provided [MedGen:CN517202]
61_GLN LEU VAR_006838 rs121913233
Unclassified - Melanoma
61_GLN LYS VAR_045979 rs28933406
Disease - Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
61_GLN LYS ClinVar
chr11:533875
rs28933406
Pathogenic/Likely pathogenic - Follicular thyroid carcinoma [Human Phenotype Ontology:HP:0006731,MedGen:C4225426,OMIM:188470]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Spermatocytic seminoma [MedGen:C0334517,Orphanet:ORPHA99865]; not provided [MedGen:CN517202]
61_GLN ARG ClinVar
chr1:115256529
rs11554290
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Congenital giant melanocytic nevus [Human Phenotype Ontology:HP:0005600,MedGen:C1842036,OMIM:137550,Orphanet:ORPHA626]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Epidermal nevus [Human Phenotype Ontology:HP:0010816,MedGen:C0334082,OMIM:162900,Orphanet:ORPHA35125,SNOMED CT:25201003]; Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Follicular thyroid carcinoma [Human Phenotype Ontology:HP:0006731,MedGen:C4225426,OMIM:188470]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neurocutaneous melanosis [MedGen:C0544862,OMIM:249400,Orphanet:ORPHA2481]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
61_GLN ARG ClinVar
chr12:25380276
rs121913240
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]
61_GLN LEU ClinVar
chr12:25380276
rs121913240
Pathogenic - Medullary thyroid carcinoma [Human Phenotype Ontology:HP:0002865,MeSH:C536914,MedGen:C0238462,Orphanet:ORPHA1332,SNOMED CT:255032005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
61_GLN HIS ClinVar
chr12:25380275
rs17851045
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]; 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 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; 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]
61_GLN ARG ClinVar
chr11:533874
rs121913233
Likely pathogenic - Epidermal nevus syndrome [MedGen:C0265318,OMIM:163200,SNOMED CT:239112008]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Vascular Tumors Including Pyogenic Granuloma [na]; not provided [MedGen:CN517202]
61_GLN LYS ClinVar
chr12:25380277
rs121913238
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
61_GLN HIS ClinVar
chr12:25380275
rs17851045
Pathogenic/Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
61_GLN PRO ClinVar
chr1:115256529
rs11554290
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
61_GLN HIS ClinVar
chr1:115256528
rs121913255
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]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
61_GLN HIS ClinVar
chr1:115256528
rs121913255
Pathogenic/Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
61_GLN LEU ClinVar
chr1:115256529
rs11554290
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]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; 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]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]; 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
61_GLN GLU ClinVar
chr1:115256530
rs121913254
Pathogenic - Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]
61_GLN PRO ClinVar
chr12:25380276
rs121913240
Pathogenic/Likely pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]
61_GLN TER ClinVar
chr1:115256530
rs121913254
Likely pathogenic - Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]
61_GLN LEU ClinVar
chr11:533874
rs121913233
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]; 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 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 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; 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]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
61_GLN HIS ClinVar
chr11:533873
rs121913496
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; 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]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; 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]
61_GLN HIS ClinVar
chr11:533873
rs121913496
Likely pathogenic - Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]
61_GLN PRO ClinVar
chr11:533874
rs121913233
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]; 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 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 [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; 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]
61_GLN GLU ClinVar
chr12:25380277
rs121913238
Likely pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
61_GLN GLU ClinVar
chr11:533875
rs28933406
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]; 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 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; 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]
63_GLU LYS VAR_045980 rs121917756
Disease - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
63_GLU LYS ClinVar
chr11:533869
rs121917756
Pathogenic - Myopathy, congenital, with excess of muscle spindles [MedGen:C1968782]; not provided [MedGen:CN517202]
71_TYR HIS ClinVar
chr12:25380247
rs387907205
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]
71_TYR ASP ClinVar
chr12:25380247
rs387907205
Likely pathogenic - Cardiofaciocutaneous syndrome 1 [MedGen:CN029449,OMIM:115150,SNOMED CT:403770008]; not provided [MedGen:CN517202]
72_MET LEU ClinVar
chr12:25380244
rs727504662
Pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]
85_ASN SER 4.7kJPN
chr1:115256457
rs114636410
- 0.0002 -
89_SER CYS VAR_078259 rs755322824
Unclassified - -
89_SER CYS ClinVar
chr11:533790
rs755322824
Likely pathogenic - not provided [MedGen:CN517202]
90_PHE SER 4.7kJPN
chr11:533787
-
- 0.0002 -
95_LEU PRO 4.7kJPN
chr1:115256427
-
- 0.0001 -
97_ARG LYS ClinVar
chr12:25380168
rs727503106
Likely pathogenic - Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
112_VAL ILE 4.7kJPN
chr12:25378664
rs775836436
- 0.0001 -
117_LYS ARG VAR_045981 rs104894227
Disease - Costello syndrome (CSTLO) [MIM:218040]
117_LYS ARG ClinVar
chr11:533553
rs104894227
Pathogenic - Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; not provided [MedGen:CN517202]
117_LYS ASN ClinVar
chr12:25378647
rs770248150
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
117_LYS ASN ClinVar
chr12:25378647
rs770248150
Pathogenic/Likely pathogenic - 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]; 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
119_ASP ASN ClinVar
chr12:25378643
rs730880471
Likely pathogenic - not provided [MedGen:CN517202]
122_ALA VAL 4.7kJPN
chr11:533538
rs779711606
- 0.0001 -
122_ALA THR 4.7kJPN
chr11:533539
-
- 0.0001 -
146_ALA THR VAR_045982 rs104894231
Disease - Costello syndrome (CSTLO) [MIM:218040]
146_ALA VAL VAR_045983 rs121917759
Disease - Costello syndrome (CSTLO) [MIM:218040]
146_ALA THR ClinVar
chr11:533467
rs104894231
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]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
146_ALA VAL ClinVar
chr11:533466
rs121917759
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]; Costello syndrome [MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED CT:309776008]; 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
146_ALA SER ClinVar
chr12:25378562
rs121913527
Likely pathogenic - Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]
146_ALA VAL ClinVar
chr12:25378561
rs1057519725
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Neoplasm of the thyroid gland [Human Phenotype Ontology:HP:0100031,MeSH:D013964,MedGen:C0040136,Orphanet:ORPHA100087]; Non-small cell lung cancer [Human Phenotype Ontology:HP:0030358,MeSH:D002289,MedGen:C0007131,SNOMED CT:254637007]
146_ALA PRO ClinVar
chr12:25378562
rs121913527
Pathogenic - Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]
146_ALA PRO ClinVar
chr11:533467
rs104894231
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]; 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 the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
147_LYS GLU ClinVar
chr12:25378559
rs387907206
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; not provided [MedGen:CN517202]
147_LYS ARG ClinVar
chr12:25378558
rs1135401776
Pathogenic - Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]
152_VAL GLY ClinVar
chr12:25362841
rs104894367
Pathogenic - Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]
152_VAL PHE ClinVar
chr12:25362842
rs397517041
Likely pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]
153_ASP VAL ClinVar
chr12:25362838
rs104894360
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Noonan syndrome 3 [MedGen:C1860991,OMIM:609942]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
153_ASP GLY ClinVar
chr12:25362838
rs104894360
Pathogenic/Likely pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
153_ASP ASN ClinVar
chr12:25362839
-
Pathogenic - not provided [MedGen:CN517202]
156_PHE LEU ClinVar
chr12:25362828
rs104894362
Pathogenic - Cardiofaciocutaneous syndrome 2 [MedGen:C3809005,OMIM:615278]; not provided [MedGen:CN517202]
156_PHE VAL ClinVar
chr12:25362830
rs397517042
Pathogenic/Likely pathogenic - Noonan syndrome [MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED CT:205824006]; not provided [MedGen:CN517202]
156_PHE ILE ClinVar
chr12:25362830
rs397517042
Pathogenic - Rasopathy [MedGen:CN166718,Orphanet:ORPHA98733]; not provided [MedGen:CN517202]
159_LEU SER 4.7kJPN
chr12:25368469
-
- 0.0001 -
162_GLU ASP 4.7kJPN
chr12:25368459
-
- 0.0002 -
163_ILE VAL 4.7kJPN
chr12:25368458
-
- 0.0001 -
164_ARG HIS 4.7kJPN
chr1:115251235
rs758669528
- 0.0008 -
164_ARG TER 4.7kJPN
chr12:25368455
rs200186819
- 0.0001 -
166_TYR HIS 4.7kJPN
chr12:25368449
rs397517476
- 0.0001 -
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Reference

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

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