MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Adenocarcinoma (D000230)
Parent Node:
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Liver Neoplasms (D008113)
..Starting node
..expand
Carcinoma, Hepatocellular (D006528)

       Child Nodes:
........expandFibrolamellar hepatocellular carcinoma (C537258)
........expandHepatoblastoma Caused By Somatic Mutation (C567299)
........expandRUIJS-AALFS SYNDROME (OMIM:616200)



 Sister Nodes: 
..expandAdenoma, Liver Cell (D018248)
..expandCarcinoma, Hepatocellular (D006528) Child2
..expandHepatic Adenomas, Familial (C564190)
..expandLiver Neoplasms, Experimental (D008114)
..expandPascual Castroviejo syndrome (C536302)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1784
Name:Carcinoma, Hepatocellular
Definition:A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.
Alternative IDs:OMIM:114550
ParentIDs:MESH:D000230|MESH:D008113
TreeNumbers:C04.557.470.200.025.255 |C04.588.274.623.160 |C06.301.623.160 |C06.552.697.160
Synonyms:Adult Liver Cancer |Adult Liver Cancers |Cancer, Adult Liver |CANCER, HEPATOCELLULAR |Cancers, Adult Liver |Carcinoma, Liver Cell |Carcinomas, Hepatocellular |Carcinomas, Liver Cell |Cell Carcinoma, Liver |Cell Carcinomas, Liver |HCC |HEPATOBLASTOMA CAUSED BY SOMAT
Slim Mappings:Cancer|Digestive system disease
Reference: MedGen: D006528
MeSH: D006528
OMIM: 114550;
MSeqDR LSDB:  
Genes: APC; AXIN1; CASP8; CPT2; CTNNB1; IGF2R; MET; PDGFRL; PIK3CA; TP53;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001402Hepatocellular carcinoma
3 HP:0001425Heterogeneous
4 HP:0001413Micronodular cirrhosis
5 HP:0001428Somatic mutation
6 HP:0006572Subacute progressive viral hepatitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000038.5(APC):c.-30430A>G324APCUncertain significancers554351451RCV000764556; RCV000764556; RCV000535658; RCV000764556; RCV000764556; RCV000764556; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370005112043211112043211-
NM_000038.5(APC):c.-30354G>C324APCUncertain significancers543098847RCV000764557; RCV000764557; RCV000528919; RCV000764557; RCV000764557; RCV000764557; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370005112043287112043287-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.-30226A>G324APCUncertain significancers189807660RCV000764558; RCV000764558; RCV000551159; RCV000764558; RCV000764558; RCV000764558; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370005112043415112043415-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.791A>G (p.Gln264Arg)324APCUncertain significancers369345931RCV000764559; RCV000764559; RCV000475979; RCV000764559; RCV000764559; RCV000575683; RCV000764559; RCV000483155; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121370371121370375:g.112137037A>G-
NM_000038.6(APC):c.933+1G>A324APCPathogenic/Likely pathogenicrs876660765RCV000763539; RCV000763539; RCV000646258; RCV000763539; RCV000763539; RCV000217532; RCV000763539; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121512911121512915:g.112151291G>A-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1312+3A>G324APCPathogenic/Likely pathogenicrs863225311RCV000763540; RCV000763540; RCV000500343; RCV000204247; RCV000763540; RCV000763540; RCV000490831; RCV000763540; RCV000202161; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:CN240755; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,S51121550441121550445:g.112155044A>G-
NM_000038.6(APC):c.1553C>T (p.Thr518Met)324APCUncertain significancers371453363RCV000764560; RCV000764560; RCV000461223; RCV000764560; RCV000764560; RCV000221284; RCV000764560; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121636301121636305:g.112163630C>T-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)324APCUncertain significancers138098808RCV000764561; RCV000764561; RCV000199835; RCV000764561; RCV000764561; RCV000217491; RCV000764561; RCV000656746; RCV000235744; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121636831121636835:g.112163683G>A-
NM_000038.6(APC):c.1695del (p.Val566fs)324APCPathogenicrs397514032RCV000000883; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2537000151121646201121646205:g.112164620_112164620delOMIM Allelic Variant:611731.0048
NM_000038.6(APC):c.1762G>A (p.Val588Ile)324APCUncertain significancers372416031RCV000764562; RCV000764562; RCV000554226; RCV000764562; RCV000764562; RCV000561260; RCV000764562; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121706661121706665:g.112170666G>A-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)324APCUncertain significancers186641437RCV000764563; RCV000764563; RCV000646251; RCV000764563; RCV000764563; RCV000220641; RCV000764563; RCV000485918; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121737651121737655:g.112173765A>G-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)324APCConflicting interpretations of pathogenicityrs536223189RCV000646567; RCV000677765; RCV000491956; NMedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:69934600951121738181121738185:g.112173818A>G-
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)324APCPathogenicrs1554085355RCV000763543; RCV000763543; RCV000763543; RCV000763543; RCV000763543; RCV000657604; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H51121751581121751585:g.112175158T>A-CN517202 not provided;
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)324APCUncertain significancers1554086241RCV000764564; RCV000764564; RCV000542952; RCV000764564; RCV000764564; RCV000564351; RCV000764564; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121761381121761385:g.112176138A>T-
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)324APCUncertain significancers1055180096RCV000765789; RCV000765789; RCV000646326; RCV000765789; RCV000765789; RCV000569003; RCV000765789; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121780271121780275:g.112178027G>A-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)324APCUncertain significancers779287035RCV000765790; RCV000765790; RCV000526527; RCV000765790; RCV000765790; RCV000564175; RCV000765790; RCV000586700; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121784571121784575:g.112178457G>A-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)324APCUncertain significancers780049836RCV000765792; RCV000765792; RCV000196318; RCV000765792; RCV000765792; RCV000567493; RCV000765792; RCV000478701; RCV000779724; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700051121797531121797535:g.112179753A>G-
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)8312AXIN1Pathogenicrs587776627RCV000006408; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700011635997336000416:g.359973_360004delOMIM Allelic Variant:603816.0001
NM_001228.4(CASP8):c.1277_1278GT[1] (p.Val427fs)841CASP8Pathogenicrs587776665RCV000008202; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2537000122021499612021499622:g.202149961_202149962delOMIM Allelic Variant:601763.0002C2239176 114550 Hepatocellular carcinoma;
NM_000077.4(CDKN2A):c.249C>G (p.His83Gln)1029CDKN2ALikely pathogenicrs34968276RCV000422116; RCV000441491; RCV000423602; RCV000422956; RCV000431254; RCV000443430; RCV000432376; RCV000433889; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; H921971109219711099:g.21971109G>C-C0278701 Adenocarcinoma of stomach;
NM_000077.4(CDKN2A):c.248A>G (p.His83Arg)1029CDKN2ALikely pathogenicrs1057519881RCV000437058; RCV000427609; RCV000442368; RCV000434118; RCV000442465; RCV000433507; RCV000426834; RCV000418529; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; H921971110219711109:g.21971110T>C-C0278701 Adenocarcinoma of stomach;
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr)1029CDKN2AUncertain significancers121913385RCV000432117; RCV000439424; RCV000638983; RCV000421013; RCV000438754; RCV000426295; RCV000429387; RCV000419112; RCV000438919; RCV000423848; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C1512419; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOM921971111219711119:g.21971111G>A-C0278701 Adenocarcinoma of stomach;
NM_000077.4(CDKN2A):c.247C>G (p.His83Asp)1029CDKN2ALikely pathogenicrs121913385RCV000436374; RCV000434935; RCV000428114; RCV000418718; RCV000425239; RCV000418136; RCV000441259; RCV000428379; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; H921971111219711119:g.21971111G>C-C0278701 Adenocarcinoma of stomach;
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro)9125CNOT9Likely pathogenicrs1057519956RCV000438382; RCV000422236; RCV000431838; RCV000431636; RCV000421602; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; Human Phenotype Ontology:HP:0006740,MedGen:C02796822194477482194477482:g.219447748T>C-C0007112 Adenocarcinoma of prostate;
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys)9125CNOT9Likely pathogenicrs1057519957RCV000427048; RCV000434591; RCV000444398; RCV000443624; RCV000426322; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; Human Phenotype Ontology:HP:0006740,MedGen:C02796822194477492194477492:g.219447749C>G-C0007112 Adenocarcinoma of prostate;
NM_001079846.1(CREBBP):c.4223G>T (p.Arg1408Leu)1387CREBBPLikely pathogenicrs1057519884RCV000434630; RCV000423976; RCV000440084; RCV000436449; RCV000441248; RCV000422899; RCV000430512; RCV000428142; RCV000438833; RCV000418109; RCV000417475; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen163788617378861716:g.3788617C>A-C0278701 Adenocarcinoma of stomach;
NM_001079846.1(CREBBP):c.4223G>A (p.Arg1408His)1387CREBBPLikely pathogenicrs1057519884RCV000441923; RCV000433580; RCV000443540; RCV000437565; RCV000441892; RCV000424559; RCV000425657; RCV000432858; RCV000435262; RCV000420453; RCV000425211; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen163788617378861716:g.3788617C>T-C0278701 Adenocarcinoma of stomach;
NM_001079846.1(CREBBP):c.4222C>G (p.Arg1408Gly)1387CREBBPLikely pathogenicrs398124146RCV000439458; RCV000423470; RCV000419312; RCV000442935; RCV000428778; RCV000440692; RCV000430036; RCV000422245; RCV000431113; RCV000438307; RCV000432952; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen163788618378861816:g.3788618G>C-C0278701 Adenocarcinoma of stomach;
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)1499CTNNB1Likely pathogenicrs28931588RCV000439366; RCV000437131; RCV000429774; RCV000430427; RCV000440025; RCV000419510; RCV000421744; RCV000429157; RCV000422380; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOM341266097412660973:g.41266097G>C-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)1499CTNNB1Likely pathogenicrs28931588RCV000421306; RCV000432187; RCV000444118; RCV000441401; RCV000438971; RCV000432497; RCV000431551; RCV000425710; RCV000423696; RCV000444402; NMedGen:C0007112; MedGen:C0278701; MeSH:D016889,MedGen:C0014170; MeSH:C562729,MedGen:C0279626, Orphanet:ORPHA99977; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:341266097412660973:g.41266097G>A-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)1499CTNNB1Likely pathogenicrs121913396RCV000439506; RCV000443906; RCV000421005; RCV000438648; RCV000428408; RCV000422917; RCV000433870; RCV000421851; RCV000429284; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOM341266098412660983:g.41266098A>C-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)1499CTNNB1Likely pathogenicrs121913396RCV000439390; RCV000436415; RCV000423474; RCV000418872; RCV000434746; RCV000429141; RCV000440497; RCV000422753; RCV000430242; NMedGen:C0007112; MedGen:C0278701; MeSH:D016889,MedGen:C0014170; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004; MedGen:C0153574,Orpha341266098412660983:g.41266098A>T-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)1499CTNNB1Likely pathogenicrs1057519886RCV000436119; RCV000433600; RCV000417825; RCV000435028; RCV000443305; RCV000426401; RCV000418863; RCV000434673; RCV000425263; RCV000442478; RCV000426101; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266100412661003:g.41266100T>C-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)1499CTNNB1Likely pathogenicrs1057519886RCV000443586; RCV000439171; RCV000440476; RCV000441600; RCV000428518; RCV000433324; RCV000430905; RCV000424341; RCV000423241; RCV000433966; RCV000420132; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266100412661003:g.41266100T>G-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)1499CTNNB1Likely pathogenicrs1057519886RCV000424580; RCV000440157; RCV000431206; RCV000425706; RCV000437702; RCV000427045; RCV000432938; RCV000441880; RCV000420531; RCV000418116; RCV000435335; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266100412661003:g.41266100T>A-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)1499CTNNB1Likely pathogenic, otherrs121913400RCV000432570; RCV000444407; RCV000431875; RCV000430769; RCV000420513; RCV000421237; RCV000441027; RCV000421624; RCV000441671; RCV000419399; RCV000432807; RCV000438635; RCV000425323; RCV000429684; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266101412661013:g.41266101C>G-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)1499CTNNB1Likely pathogenicrs121913399RCV000418083; RCV000438776; RCV000438184; RCV000420040; RCV000430713; RCV000427907; RCV000436663; RCV000438599; RCV000427501; RCV000419419; NMedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0030062,MeSH:D003397,MedGen:C0010276, Orphanet:ORPHA54595; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orph341266103412661033:g.41266103G>C-C0278701 Adenocarcinoma of stomach;
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)1499CTNNB1Likely pathogenicrs28931589RCV000427731; RCV000430157; RCV000442184; RCV000437750; RCV000436689; RCV000442160; RCV000427084; RCV000419447; NMedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:00341266104412661043:g.41266104G>C-C0278701 Adenocarcinoma of stomach;
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)1499CTNNB1Likely pathogenicrs121913228RCV000431861; RCV000440535; RCV000444541; RCV000429643; RCV000434676; RCV000423296; RCV000440333; RCV000423953; RCV000423766; RCV000443827; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266112412661123:g.41266112T>C-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)1499CTNNB1Likely pathogenicrs121913228RCV000419658; RCV000430355; RCV000436705; RCV000424491; RCV000444358; RCV000435198; RCV000430984; RCV000435831; RCV000426018; RCV000419464; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:H341266112412661123:g.41266112T>G-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)1499CTNNB1Pathogenic/Likely pathogenicrs121913403RCV000441059; RCV000420492; RCV000441660; RCV000419361; RCV000421620; RCV000432982; RCV000431858; RCV000420998; RCV000430785; RCV000438660; RCV000429634; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,341266113412661133:g.41266113C>A-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)1499CTNNB1Likely pathogenicrs121913413RCV000420278; RCV000422378; RCV000435532; RCV000430531; RCV000417888; RCV000428037; RCV000440036; RCV000437888; NMedGen:C0007112; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:00341266125412661253:g.41266125C>A-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)1499CTNNB1Pathogenic/Likely pathogenicrs121913409RCV000424917; RCV000434843; RCV000422850; RCV000444787; RCV000417587; RCV000427426; RCV000435197; RCV000442079; RCV000437572; NMedGen:C0007112; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOM341266137412661373:g.41266137C>A-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)1499CTNNB1Likely pathogenicrs121913409RCV000428521; RCV000417615; RCV000422624; RCV000420360; RCV000428312; RCV000439152; RCV000432444; RCV000437569; RCV000439811; NMedGen:C0007112; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; MeSH:D004194,MedGen:C0012634, Orphanet:ORPHA377788; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009341266137412661373:g.41266137C>G-C0007112 Adenocarcinoma of prostate;
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)1499CTNNB1Pathogenicrs775104326RCV000763110; RCV000763110; RCV000763110; RCV000624646; RCV000763110; RCV000415150; RCV000763110; RCV000763110; RCV000763110; RCV000256097; NMedGen:C0009402,OMIM:114500,SNOMED CT:269533000; MedGen:C4539767,OMIM:617572; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:D030342,MedGen:C0950123; Human Phenotype Ontology:341266486412664863:g.41266486C>T-C0950123 Inborn genetic diseases;
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)1499CTNNB1Pathogenicrs778624338RCV000987258; RCV000624466; RCV000522499; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:D030342,MedGen:C0950123; MedGen:CN517202341268761412687613:g.41268761C>A-C0950123 Inborn genetic diseases;
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)1499CTNNB1Pathogenic-1RCV000987259; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001341268801412688043:g.41268801_41268804del-
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)1499CTNNB1Pathogenicrs1553631896RCV000987260; RCV000627529; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:CN517202341275327412753283:g.41275327_41275328insA-C3554449 615075 Mental retardation, autosomal dominant 19;
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)1499CTNNB1Likely pathogenic-1RCV000987261; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001341275634412756353:g.41275634_41275635insT-
NM_015850.4(FGFR1):c.1962G>C (p.Lys654Asn)2260FGFR1Likely pathogenicrs1057519897RCV000443011; RCV000444182; RCV000422833; RCV000426798; RCV000437662; RCV000433539; NHuman Phenotype Ontology:HP:0009592,MeSH:D001254,MedGen:C0004114, Orphanet:ORPHA94,SNOMED CT:38713004; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SN838272306382723068:g.38272306C>G-C0004114 Astrocytoma;
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu)2778GNASPathogenic/Likely pathogenicrs121913495RCV000428316; RCV000421098; RCV000426787; RCV000445297; RCV000437005; RCV000191992; RCV000441446; RCV000434801; RCV000438552; RCV000434140; RCV000423913; RCV000445217; NMedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0020574844215748442120:g.57484421G>TUniProtKB (protein):P63092#VAR_017845C0278701 Adenocarcinoma of stomach;
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met)3418IDH2Pathogenic/Likely pathogenicrs121913503RCV000431159; RCV000440790; RCV000422933; RCV000440163; RCV000433618; YHuman Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; Human Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNO15906318389063183815:g.90631838C>A-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys)3418IDH2Pathogenic/Likely pathogenicrs121913503RCV000421863; RCV000445068; RCV000426009; RCV000432566; RCV000431485; RCV000444071; YHuman Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; Human Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNO15906318389063183815:g.90631838C>T-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp)3418IDH2Likely pathogenicrs1057519906RCV000437853; RCV000431322; RCV000444821; RCV000425002; RCV000420203; YHuman Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; Human Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNO15906318399063183915:g.90631839T>A-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly)3418IDH2Likely pathogenicrs1057519906RCV000429662; RCV000438062; RCV000440787; RCV000423117; RCV000419393; YHuman Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; Human Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNO15906318399063183915:g.90631839T>C-C0023467 601626 Acute myeloid leukemia;
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)3845KRASPathogenic/Likely pathogenicrs770248150RCV000443670; RCV000425803; RCV000442858; RCV000435219; RCV000435839; RCV000425583; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MeSH:C562393,MedGen:C0151779,SNOMED CT:93612253786472537864712:g.25378647T>G-C0278701 Adenocarcinoma of stomach;
NM_001127500.3(MET):c.142G>A (p.Ala48Thr)4233METUncertain significancers374050750RCV000764682; RCV000764682; RCV000569043; RCV000764682; RCV000532694; RCV000764682; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype O71163392801163392807:g.116339280G>A-C0027672 Hereditary cancer-predisposing syndrome;
NM_001127500.3(MET):c.143C>G (p.Ala48Gly)4233METUncertain significancers80256822RCV000765914; RCV000765914; RCV000765914; RCV000458343; RCV000765914; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedG71163392811163392817:g.116339281C>G-
NM_001127500.3(MET):c.762A>C (p.Glu254Asp)4233METUncertain significancers760278126RCV000765915; RCV000765915; RCV001026638; RCV000765915; RCV000688808; RCV000765915; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype O71163399001163399007:g.116339900A>C-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.3(MET):c.799G>A (p.Glu267Lys)4233METUncertain significancers755954919RCV000765916; RCV000765916; RCV000765916; RCV000458477; RCV000765916; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedG71163399371163399377:g.116339937G>A-
NM_001127500.3(MET):c.1157T>G (p.Leu386Arg)4233METUncertain significancers1554379180RCV000765917; RCV000765917; RCV000765917; RCV000628760; RCV000765917; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedG71163402951163402957:g.116340295T>G-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.3(MET):c.1174C>A (p.Pro392Thr)4233METUncertain significancers886061943RCV000765918; RCV000765918; RCV000570504; RCV000765918; RCV000335138; RCV000765918; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype O71163403121163403127:g.116340312C>A-
NM_001127500.3(MET):c.1444G>A (p.Asp482Asn)4233METUncertain significancers863224694RCV000765919; RCV000765919; RCV000765919; RCV000198703; RCV000765919; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedG71163800551163800557:g.116380055G>A-
NM_001127500.3(MET):c.4088T>C (p.Ile1363Thr)4233METUncertain significancers768188910RCV000765921; RCV000765921; RCV001021839; RCV000765921; RCV000628769; RCV000765921; NMedGen:C4084709,OMIM:616705; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C4085248,OMIM:607278, Orphanet:ORPHA488265; Human Phenotype O71164360391164360397:g.116436039T>C-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_006164.5(NFE2L2):c.237G>T (p.Glu79Asp)4780NFE2L2Likely pathogenicrs1057519924RCV000438261; RCV000437586; RCV000427358; RCV000442131; RCV000426287; RCV000445098; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C535575,MedGen:C1168401,OMIM:275355, Orphanet:ORPHA67037; Huma21780988081780988082:g.178098808C>A-C2239176 114550 Hepatocellular carcinoma;
NM_006164.5(NFE2L2):c.236A>T (p.Glu79Val)4780NFE2L2Likely pathogenicrs1057519923RCV000442257; RCV000433603; RCV000432493; RCV000423337; RCV000439873; RCV000422224; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C535575,MedGen:C1168401,OMIM:275355, Orphanet:ORPHA67037; Huma21780988091780988092:g.178098809T>A-C2239176 114550 Hepatocellular carcinoma;
NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln)4780NFE2L2Likely pathogenicrs1057519922RCV000426554; RCV000436786; RCV000437362; RCV000419695; RCV000420859; RCV000431138; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C535575,MedGen:C1168401,OMIM:275355, Orphanet:ORPHA67037; Huma21780988101780988102:g.178098810C>G-C2239176 114550 Hepatocellular carcinoma;
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)4780NFE2L2Pathogenic/Likely pathogenicrs1057519922RCV000421132; RCV000513666; RCV000438981; RCV000428731; RCV000420226; RCV000441372; RCV000431386; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C4540293,OMIM:617744; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C535575,MedGen:C1168401,OMIM:27521780988101780988102:g.178098810C>TOMIM Allelic Variant:600492.0004C2239176 114550 Hepatocellular carcinoma;
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)5290PIK3CAPathogenicrs1057519925RCV000422944; RCV000425038; RCV000442682; RCV000433137; RCV000443243; RCV000991209; RCV000434215; RCV000423945; RCV000785580; RCV000440626; RCV000430361; RCV000435327; NMedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C53823131789280791789280793:g.178928079G>A-
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)5290PIK3CALikely pathogenicrs1057519925RCV000418841; RCV000419906; RCV000435835; RCV000422834; RCV000430193; RCV000436533; RCV000429114; RCV000424512; RCV000445141; RCV000440424; NMedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C53823131789280791789280793:g.178928079G>C-C0278701 Adenocarcinoma of stomach;
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)5290PIK3CALikely pathogenicrs1057519926RCV000434200; RCV000431793; RCV000425686; RCV000423873; RCV000441605; RCV000442046; RCV000421529; RCV000439172; RCV000431356; RCV000432477; NMedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C53823131789280811789280813:g.178928081A>T-C0278701 Adenocarcinoma of stomach;
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)5290PIK3CAPathogenic/Likely pathogenicrs121913273RCV000418640; RCV000433655; RCV000423606; RCV000444624; RCV000440174; RCV000435331; RCV000425149; RCV000428863; RCV000429976; RCV000417562; RCV000421205; RCV000785596; RCV000434732; RCV000418838; RCV000423371; RCV000440003; RCV000441301; RCV000435434; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA8867331789360821789360823:g.178936082G>C-
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)5290PIK3CALikely pathogenicrs1057519927RCV000419304; RCV000426815; RCV000437064; RCV000430621; RCV000428636; RCV000432777; RCV000438466; RCV000441350; RCV000417967; RCV000438048; RCV000426519; RCV000421834; RCV000441904; RCV000439966; RCV000420824; RCV000421246; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA8867331789360831789360833:g.178936083A>C-C0007112 Adenocarcinoma of prostate;
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)5290PIK3CALikely pathogenicrs1057519927RCV000427245; RCV000420027; RCV000418134; RCV000435311; RCV000438605; RCV000419045; RCV000432513; RCV000428899; RCV000442409; RCV000438103; RCV000439562; RCV000426905; RCV000427928; RCV000433205; RCV000427440; RCV000443002; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA8867331789360831789360833:g.178936083A>T-C0007112 Adenocarcinoma of prostate;
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)5290PIK3CALikely pathogenicrs1057519927RCV000443286; RCV000442694; RCV000434554; RCV000442566; RCV000425864; RCV000623233; RCV000435067; RCV000425192; RCV000423683; RCV000428975; RCV000430389; RCV000418283; RCV000434370; RCV000440193; RCV000422972; RCV000436379; RCV000423223; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA8867331789360831789360833:g.178936083A>G-C0007112 Adenocarcinoma of prostate;
NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe)6256RXRALikely pathogenicrs1057519958RCV000437431; RCV000425675; RCV000419754; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0006725,MedGen:C0281361; Human Phenotype Ontology:HP:0006740,MedGen:C027968091373283511373283519:g.137328351C>T-C2239176 114550 Hepatocellular carcinoma;
NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr)6256RXRALikely pathogenicrs1057519958RCV000435929; RCV000419019; RCV000429414; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0006725,MedGen:C0281361; Human Phenotype Ontology:HP:0006740,MedGen:C027968091373283511373283519:g.137328351C>A-C2239176 114550 Hepatocellular carcinoma;
NM_003011.4(SET):c.701A>G (p.Glu234Gly)6418SETotherrs768759521RCV000505665; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2537000191314562121314562129:g.131456212A>G-C2239176 114550 Hepatocellular carcinoma;
NM_012433.3(SF3B1):c.1996A>C (p.Lys666Gln)23451SF3B1Likely pathogenicrs754688962RCV000445187; RCV000441810; RCV000423955; RCV000433378; NHuman Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400, Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25321982673611982673612:g.198267361T>G-C0023434 151400 Chronic lymphocytic leukemia;
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)10992SF3B2Likely pathogenicrs1057519959RCV000428737; RCV000434162; RCV000423874; RCV000438957; NHuman Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400, Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25311658304996583049911:g.65830499A>C-C0023434 151400 Chronic lymphocytic leukemia;
NM_001193376.2(TERT):c.2004G>C (p.Glu668Asp)7015TERTPathogenicrs1554040964RCV000499860; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700015127953212795325:g.1279532C>G-
NM_001193376.2(TERT):c.578C>T (p.Pro193Leu)7015TERTUncertain significancers751762765RCV000500779; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700015129442312944235:g.1294423G>A-
NM_198253.2(TERT):c.337dup (p.Glu113fs)7015TERTPathogenicrs1554043088RCV000504167; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700015129466312946645:g.1294663_1294664insC-
NM_001193376.2(TERT):c.200C>T (p.Ala67Val)7015TERTLikely pathogenicrs1554043124RCV000502409; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700015129490512949055:g.1294905G>A-
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln)7157TP53Conflicting interpretations of pathogenicityrs730882008RCV000423658; RCV000418376; RCV000426667; RCV000421276; RCV000439593; RCV000492420; RCV000226273; RCV000709768; RCV000438489; RCV000442318; RCV000434324; RCV000437335; RCV000429554; RCV000425549; RCV000433180; RCV000431918; RCV000428909; RCV000436164; RCV000444806; RCV00042; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673177577093757709317:g.7577093C>TUniProtKB (protein):P04637#VAR_045387C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro)7157TP53Pathogenic/Likely pathogenicrs730882008RCV000432620; RCV000424978; RCV000440221; RCV000428608; RCV000434763; RCV000492764; RCV000709402; RCV000426071; RCV000425389; RCV000438637; RCV000417824; RCV000441861; RCV000441023; RCV000417919; RCV000423789; RCV000435036; RCV000427957; RCV000442220; RCV000419006; RCV00043; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673177577093757709317:g.7577093C>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.821T>A (p.Val274Asp)7157TP53Likely pathogenicrs1057520006RCV000434236; RCV000424885; RCV000432106; RCV000441480; RCV000419239; RCV000424200; RCV000443016; RCV000431443; RCV000436477; RCV000443884; RCV000425563; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOM177577117757711717:g.7577117A>T-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.821T>G (p.Val274Gly)7157TP53Conflicting interpretations of pathogenicityrs1057520006RCV000426446; RCV000439046; RCV000419865; RCV000492506; RCV000692432; RCV000420544; RCV000430539; RCV000437117; RCV000441279; RCV000431168; RCV000431803; RCV000421122; RCV000438367; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Ph177577117757711717:g.7577117A>C-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.821T>C (p.Val274Ala)7157TP53Likely pathogenicrs1057520006RCV000426772; RCV000438006; RCV000426067; RCV000432482; RCV000420150; RCV000433292; RCV000444136; RCV000427353; RCV000421817; RCV000443517; RCV000437438; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOM177577117757711717:g.7577117A>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.820G>T (p.Val274Phe)7157TP53Likely pathogenicrs1057520005RCV000435470; RCV000430114; RCV000423526; RCV000428932; RCV000429450; RCV000440120; RCV000440773; RCV000418736; RCV000418237; RCV000419355; RCV000436116; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MeSH:C562393,MedGen:C0151779,SNOM177577118757711817:g.7577118C>A-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.820G>C (p.Val274Leu)7157TP53Uncertain significancers1057520005RCV000422877; RCV000428087; RCV000420871; RCV000701251; RCV000439367; RCV000418040; RCV000440106; RCV000428696; RCV000433566; RCV000429377; RCV000422166; RCV000435261; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Phenotype Ontology:HP:0030078,MeSH:C53177577118757711817:g.7577118C>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.746G>T (p.Arg249Met)7157TP53Uncertain significancers587782329RCV000439247; RCV000420945; RCV000431805; RCV000434651; RCV000421561; RCV000690948; RCV000422393; RCV000430463; RCV000429799; RCV000782360; RCV000785293; RCV000428988; RCV000440059; RCV000420239; RCV000437240; RCV000419533; RCV000445070; RCV000445103; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673177577535757753517:g.7577535C>A-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly)7157TP53Uncertain significancers587782082RCV000418381; RCV000419254; RCV000423993; RCV000427287; RCV000427933; RCV001026460; RCV000467567; RCV000426656; RCV000436898; RCV000437517; RCV000785305; RCV000444068; RCV000438863; RCV000436273; RCV000428633; RCV000441694; RCV000429532; RCV000421216; RCV000581522; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673177577536757753617:g.7577536T>C-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp)7157TP53Pathogenic/Likely pathogenicrs985033810RCV000439239; RCV000428997; RCV000421269; RCV000440742; RCV000561866; RCV000477083; RCV000429659; RCV000444224; RCV000444195; RCV000419371; RCV000785537; RCV000427142; RCV000422456; RCV000432739; RCV000423079; RCV000431939; RCV000413969; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:18776177577550757755017:g.7577550C>T-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.731G>T (p.Gly244Val)7157TP53Likely pathogenicrs985033810RCV000433321; RCV000443964; RCV000424338; RCV000420188; RCV000440310; RCV000433805; RCV000417831; RCV000430897; RCV000785338; RCV000439173; RCV000434977; RCV000428522; RCV000423073; RCV000441607; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:18776177577550757755017:g.7577550C>A-
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys)7157TP53Uncertain significancers1057519989RCV000443459; RCV000437360; RCV000418385; RCV000422508; RCV000538079; RCV000439724; RCV000429067; RCV000427774; RCV000419449; RCV000438569; RCV000427875; RCV000437805; RCV000430162; RCV000436692; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:18776177577551757755117:g.7577551C>A-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser)7157TP53Pathogenicrs1057519989RCV000442909; RCV000432031; RCV000436060; RCV000433704; RCV000492366; RCV000633372; RCV000418805; RCV000434459; RCV000426513; RCV000443654; RCV000421362; RCV000425382; RCV000441006; RCV000423748; RCV000426057; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:18776177577551757755117:g.7577551C>T-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.730G>C (p.Gly244Arg)7157TP53Likely pathogenicrs1057519989RCV000419267; RCV000430145; RCV000418001; RCV000437599; RCV000425133; RCV000432729; RCV000420351; RCV000424520; RCV000425485; RCV000443153; RCV000431028; RCV000438254; RCV000435229; NMedGen:C0278701; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:18776177577551757755117:g.7577551C>G-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.716A>G (p.Asn239Ser)7157TP53Likely pathogenicrs1057519999RCV000442626; RCV000438332; RCV000438482; RCV000567507; RCV000427640; RCV000426368; RCV000428926; RCV000418854; RCV000436108; RCV000420011; RCV000429581; RCV000437044; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C01520177577565757756517:g.7577565T>C-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr)7157TP53Uncertain significancers1057519999RCV000430564; RCV000435297; RCV000442232; RCV000633336; RCV000418162; RCV000441278; RCV000431205; RCV000417510; RCV000436479; RCV000420547; RCV000424579; RCV000425771; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Phenotype Ontology:HP:0030078,MeSH:C53177577565757756517:g.7577565T>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp)7157TP53Conflicting interpretations of pathogenicityrs876660807RCV000423612; RCV000428477; RCV000441535; RCV000223044; RCV000560536; RCV000421256; RCV000424282; RCV000439114; RCV000434302; RCV000442741; RCV000433419; RCV000432300; RCV000426851; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Ph177577566757756617:g.7577566T>CUniProtKB (protein):P04637#VAR_045204C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.658T>C (p.Tyr220His)7157TP53Uncertain significancers530941076RCV000422371; RCV000440468; RCV000420142; RCV000422197; RCV000566866; RCV000444451; RCV000425148; RCV000440668; RCV000431076; RCV000417798; RCV000433089; RCV000785254; RCV000420004; RCV000439425; RCV000435010; RCV000436002; RCV000438238; RCV000430823; RCV000431992; RCV00042; NMedGen:C0007112; MedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346177578191757819117:g.7578191A>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.658T>A (p.Tyr220Asn)7157TP53Likely pathogenicrs530941076RCV000419021; RCV000421037; RCV000424584; RCV000443812; RCV000570507; RCV000426310; RCV000434035; RCV000439357; RCV000427847; RCV000429130; RCV000429300; RCV000434427; RCV000437403; RCV000438838; RCV000438068; RCV000423767; RCV000419702; RCV000419523; RCV000438679; RCV00043; NMedGen:C0007112; MedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346177578191757819117:g.7578191A>T-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.658T>G (p.Tyr220Asp)7157TP53Likely pathogenicrs530941076RCV000444915; RCV000430837; RCV000425315; RCV000428144; RCV000444073; RCV000418779; RCV000440413; RCV000437034; RCV000417982; RCV000418575; RCV000427506; RCV000436457; RCV000433449; RCV000434918; RCV000426793; RCV000441127; RCV000424311; RCV000422783; RCV000431034; NMedGen:C0007112; MedGen:C0278701; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030177578191757819117:g.7578191A>C-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.614A>G (p.Tyr205Cys)7157TP53Likely pathogenicrs1057520007RCV000443687; RCV000431652; RCV000422077; RCV000704312; RCV000442863; RCV000433236; RCV000440667; RCV000443828; RCV000432320; RCV000439980; RCV000427749; RCV000427034; RCV000437254; RCV000422980; RCV000424901; RCV000437968; RCV000430410; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578235757823517:g.7578235T>C-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.614A>T (p.Tyr205Phe)7157TP53Likely pathogenicrs1057520007RCV000438926; RCV000431494; RCV000439588; RCV000421916; RCV000421235; RCV000436627; RCV000428672; RCV000424047; RCV000443993; RCV000418952; RCV000429233; RCV000426974; RCV000419588; RCV000434394; RCV000429897; RCV000443853; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578235757823517:g.7578235T>A-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.614A>C (p.Tyr205Ser)7157TP53Likely pathogenicrs1057520007RCV000426347; RCV000418906; RCV000437249; RCV000428760; RCV000424176; RCV000435531; RCV000436591; RCV000428105; RCV000443239; RCV000433698; RCV000430958; RCV000438368; RCV000423862; RCV000417872; RCV000440868; RCV000441249; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578235757823517:g.7578235T>G-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn)7157TP53Uncertain significancers1057520008RCV000417461; RCV000433474; RCV000426051; RCV001024933; RCV000662621; RCV000444368; RCV000432365; RCV000430575; RCV000424682; RCV000420753; RCV000430294; RCV000435608; RCV000424892; RCV000437987; RCV000419577; RCV000422784; RCV000444287; RCV000441202; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578236757823617:g.7578236A>T-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.613T>C (p.Tyr205His)7157TP53Conflicting interpretations of pathogenicityrs1057520008RCV000422887; RCV000424493; RCV000431958; RCV000775886; RCV000819983; RCV000426781; RCV000437451; RCV000420368; RCV000421826; RCV000443753; RCV000440094; RCV000427755; RCV000437587; RCV000419308; RCV000432726; RCV000439923; RCV000443622; RCV000431739; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578236757823617:g.7578236A>G-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp)7157TP53Uncertain significancers1057520008RCV000444122; RCV000444873; RCV000434446; RCV000462351; RCV000663307; RCV000421137; RCV000438356; RCV000421350; RCV000436740; RCV000428535; RCV000439629; RCV000423676; RCV000430021; RCV000419128; RCV000426948; RCV000428939; RCV000439865; RCV000434351; NHuman Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2177578236757823617:g.7578236A>C-C0152018 Carcinoma of esophagus;
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg)7157TP53Uncertain significancers1057519998RCV000437791; RCV000428827; RCV000561306; RCV000535418; RCV000436915; RCV000420755; RCV000431014; RCV000430366; RCV000785551; RCV000422070; RCV000440633; RCV000424933; RCV000439886; RCV000419180; NMeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0085390, Orphanet:ORP177578268757826817:g.7578268A>C-C0017636 Glioblastoma;
NM_001126112.2(TP53):c.581T>A (p.Leu194His)7157TP53Uncertain significancers1057519998RCV000431615; RCV000427064; RCV000565549; RCV000443173; RCV000434795; RCV000426499; RCV000436747; RCV000785543; RCV000421586; RCV000442619; RCV000422209; RCV000443531; RCV000431831; NMeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:699346009; Human Phenotype Ontology:HP:177578268757826817:g.7578268A>T-C0017636 Glioblastoma;
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro)7157TP53Uncertain significancers1057519998RCV000441162; RCV000424516; RCV000633391; RCV000442808; RCV000433582; RCV000419057; RCV000441887; RCV000436323; RCV000426810; RCV000425646; RCV000433343; RCV000423937; NMeSH:D005909,MedGen:C0017636, Orphanet:ORPHA360,SNOMED CT:63634009; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Phen177578268757826817:g.7578268A>G-C0017636 Glioblastoma;
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn)7157TP53Uncertain significancers786203436RCV000443877; RCV000428833; RCV000421406; RCV000633347; RCV000437297; RCV000431660; RCV000434430; RCV000439053; RCV000424159; RCV000426404; RCV000422095; RCV000444003; RCV000443298; RCV000439742; RCV000427021; NHuman Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen177578443757844317:g.7578443A>T-C0677865 Brainstem glioma;
NM_001126112.2(TP53):c.487T>C (p.Tyr163His)7157TP53Uncertain significancers786203436RCV000431265; RCV000418221; RCV000440924; RCV001023195; RCV000436639; RCV000423893; RCV000435900; RCV000425645; RCV000438678; RCV000417511; RCV000434193; RCV000428451; RCV000441609; RCV000418859; RCV000423239; NHuman Phenotype Ontology:HP:0010796,MedGen:C0677865; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen177578443757844317:g.7578443A>G-C0677865 Brainstem glioma;
NM_001126112.2(TP53):c.452C>A (p.Pro151His)7157TP53Uncertain significancers1057520000RCV000443403; RCV000444401; RCV000421293; RCV000422381; RCV000633371; RCV000438983; RCV000423439; RCV000440037; RCV000442618; RCV000432614; RCV000433715; RCV000428730; RCV000785256; RCV000428053; RCV000420222; RCV000440518; RCV000426285; RCV000427300; RCV000438265; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C00853177578478757847817:g.7578478G>T-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg)7157TP53Uncertain significancers1057520000RCV000425600; RCV000441608; RCV000440477; RCV000423715; RCV000633382; RCV000439174; RCV000434196; RCV000435439; RCV000430235; RCV000431352; RCV000443101; RCV000419958; RCV000424514; RCV000418846; RCV000421526; RCV000436541; RCV000419325; RCV000435893; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C00853177578478757847817:g.7578478G>C-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala)7157TP53Uncertain significancers28934874RCV000443386; RCV000431059; RCV000438632; RCV000426064; RCV000459465; RCV000443299; RCV000437396; RCV000431789; RCV000428371; RCV000420838; RCV000418125; RCV000420971; RCV000436762; RCV000432886; RCV000425371; RCV000426471; RCV000441351; RCV000419693; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C00853177578479757847917:g.7578479G>C-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.432G>T (p.Gln144His)7157TP53Likely pathogenicrs786201419RCV000437256; RCV000429945; RCV000425946; RCV000435752; RCV000441498; RCV000418508; RCV000419148; RCV000430092; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MedGen:C0153574, Orphanet:ORPHA213569; Human Phenot177578498757849817:g.7578498C>A-
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu)7157TP53Uncertain significancers786203071RCV000435123; RCV000425167; RCV000991148; RCV000434521; RCV000423654; RCV000443135; RCV000443744; RCV000443056; RCV000434320; NMedGen:C0278701; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0085390, Orphanet:ORPHA524,SNOMED CT:428850001; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C015177578499757849917:g.7578499T>A-C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp)7157TP53Uncertain significancers1057519976RCV000430892; RCV000441628; RCV000429841; RCV000417767; RCV000423274; RCV000556410; RCV000424924; RCV000432245; RCV000434979; RCV000435704; RCV000420220; RCV000420893; RCV000440498; RCV000439451; RCV000479510; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,O177578525757852517:g.7578525G>C-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.404G>T (p.Cys135Phe)7157TP53Likely pathogenicrs587781991RCV000418582; RCV000435797; RCV000425788; RCV000427781; RCV000444308; RCV000492398; RCV000428180; RCV000417503; RCV000436707; RCV000426876; RCV000434318; RCV000436440; RCV000438861; RCV000444605; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,O177578526757852617:g.7578526C>A-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.403T>C (p.Cys135Arg)7157TP53Likely pathogenicrs1057519975RCV000422903; RCV000440105; RCV000426036; RCV000430504; RCV000432610; RCV000425388; RCV000418091; RCV000423943; RCV000434656; RCV000444995; RCV000433604; RCV000441192; RCV000444209; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,O177578527757852717:g.7578527A>G-C0007112 Adenocarcinoma of prostate;
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser)7157TP53Uncertain significancers1057519975RCV000444857; RCV000444883; RCV000430830; RCV000426947; RCV000438245; RCV000814994; RCV000443653; RCV000420576; RCV000432917; RCV000424613; RCV000431837; RCV000437180; RCV000426276; RCV000422226; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,O177578527757852717:g.7578527A>T-
NM_001126112.2(TP53):c.403T>G (p.Cys135Gly)7157TP53Likely pathogenicrs1057519975RCV000420954; RCV000423071; RCV000432330; RCV000428411; RCV000445231; RCV000570655; RCV000991142; RCV000439732; RCV000444598; RCV000437581; RCV000418158; RCV000785515; RCV000429525; RCV000438642; RCV000422074; RCV000433361; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,O177578527757852717:g.7578527A>C-C0007112 Adenocarcinoma of prostate;
MSeqDR Portal