MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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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_005163.2(AKT1):c.49G>A (p.Glu17Lys)207AKT1Pathogenic/Likely pathogenic121434592RCV000419412; RCV000427484; RCV000015017; RCV000015018; RCV000431237; RCV000444311; RCV000431723; RCV000426386; RCV000434120; RCV000015019; RCV000430173; RCV000429060; RCV000421009; RCV000436698; RCV000421696; RCV000445271; RCV000031926; RCV000421850; RCV000439982; RCV00044; NMedGen:C0007112; MedGen:C0278701; MedGen:C0858252, Orphanet:ORPHA213528; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C0279763; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370014105246551105246551OMIM Allelic Variant:164730.0001,UniProtKB (protein):P31749#VAR_055422C0007112 Adenocarcinoma of prostate;
NM_000038.5(APC):c.-30430A>G324APCUncertain significance554351451RCV000764556; RCV000764556; RCV000535658; RCV000764556; RCV000764556; RCV000764556; NMedGen:C0699790,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-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.-30354G>C324APCUncertain significance543098847RCV000764557; RCV000764557; RCV000528919; RCV000764557; RCV000764557; RCV000764557; NMedGen:C0699790,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 significance189807660RCV000764558; RCV000764558; RCV000551159; RCV000764558; RCV000764558; RCV000764558; NMedGen:C0699790,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_000038.5(APC):c.70C>T (p.Arg24Ter)324APCPathogenic/Likely pathogenic145945630RCV000763534; RCV000763534; RCV000499913; RCV000227124; RCV000763534; RCV000763534; RCV000164002; RCV000763534; RCV000482864; RCV000508297; NMedGen:C0699790,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,S5112090657112090657-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.637C>T (p.Arg213Ter)324APCPathogenic587781392RCV000763535; RCV000763535; RCV000502476; RCV000227200; RCV000763535; RCV000763535; RCV000129233; RCV000763535; RCV000202175; NMedGen:C0699790,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,S5112116592112116592-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.646C>T (p.Arg216Ter)324APCPathogenic62619935RCV000763536; RCV000763536; RCV000503630; RCV000470336; RCV000763536; RCV000763536; RCV000223521; RCV000763536; RCV000115111; NMedGen:C0699790,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,S5112128143112128143-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.694C>T (p.Arg232Ter)324APCPathogenic397515734RCV000763537; RCV000763537; RCV000501093; RCV000035081; RCV000763537; RCV000763537; RCV000491782; RCV000763537; RCV000486263; NMedGen:C0699790,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,S5112128191112128191-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.791A>G (p.Gln264Arg)324APCUncertain significance369345931RCV000764559; RCV000764559; RCV000475979; RCV000764559; RCV000764559; RCV000575683; RCV000764559; RCV000483155; NMedGen:C0699790,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:25370005112137037112137037-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.847C>T (p.Arg283Ter)324APCPathogenic786201856RCV000763538; RCV000763538; RCV000501350; RCV000226000; RCV000763538; RCV000763538; RCV000164351; RCV000587519; RCV000763538; RCV000202113; NMedGen:C0699790,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,S5112151204112151204-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.933+1G>A324APCPathogenic/Likely pathogenic876660765RCV000763539; RCV000763539; RCV000646258; RCV000763539; RCV000763539; RCV000217532; RCV000763539; NMedGen:C0699790,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:25370005112151291112151291-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.1312+3A>G324APCPathogenic/Likely pathogenic863225311RCV000763540; RCV000763540; RCV000500343; RCV000204247; RCV000763540; RCV000763540; RCV000490831; RCV000763540; RCV000202161; NMedGen:C0699790,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,S5112155044112155044-CN240755 Familial adenomatous polyposis;
NM_000038.5(APC):c.1458T>C (p.Tyr486=)324APCBenign2229992RCV000275522; RCV000755636; RCV000755636; RCV000542336; RCV000755636; RCV000074147; RCV000755636; RCV000131423; RCV000755636; RCV000755209; RCV000035064; NMedGen:CN239210; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; MedGen:CN029768; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOME5112162854112162854-CN239210 APC-Associated Polyposis Disorders;
NM_000038.5(APC):c.1553C>T (p.Thr518Met)324APCUncertain significance371453363RCV000764560; RCV000764560; RCV000461223; RCV000764560; RCV000764560; RCV000221284; RCV000764560; NMedGen:C0699790,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:25370005112163630112163630-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.1606G>A (p.Glu536Lys)324APCUncertain significance138098808RCV000764561; RCV000764561; RCV000199835; RCV000764561; RCV000764561; RCV000217491; RCV000764561; RCV000656746; RCV000235744; NMedGen:C0699790,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:25370005112163683112163683-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.1660C>T (p.Arg554Ter)324APCPathogenic137854573RCV000763541; RCV000210172; RCV000763541; RCV000000845; RCV000763541; RCV000763541; RCV000129303; RCV000763541; RCV000482405; NMedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C1858438; 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,S5112164586112164586OMIM Allelic Variant:611731.0015C1858438 Colorectal cancer, susceptibility to;
NM_001127510.2(APC):c.1695del (p.Val566Leufs)324APCPathogenic397514032RCV000000883; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700015112164621112164621OMIM Allelic Variant:611731.0048
NM_000038.5(APC):c.1762G>A (p.Val588Ile)324APCUncertain significance372416031RCV000764562; RCV000764562; RCV000554226; RCV000764562; RCV000764562; RCV000561260; RCV000764562; NMedGen:C0699790,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:25370005112170666112170666-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.2474A>G (p.Tyr825Cys)324APCUncertain significance186641437RCV000764563; RCV000764563; RCV000646251; RCV000764563; RCV000764563; RCV000220641; RCV000764563; RCV000485918; NMedGen:C0699790,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:25370005112173765112173765-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.2527A>G (p.Ser843Gly)324APCConflicting interpretations of pathogenicity536223189RCV000646567; 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:6993460095112173818112173818-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.2805C>A (p.Tyr935Ter)324APCPathogenic137854575RCV000763542; RCV000210151; RCV000763542; RCV000502795; RCV000000848; RCV000763542; RCV000763542; RCV000129305; RCV000763542; RCV000202012; NMedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C1858438; 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,SNOME5112174096112174096OMIM Allelic Variant:611731.0018C1858438 Colorectal cancer, susceptibility to;
NM_000038.5(APC):c.3867T>A (p.Cys1289Ter)324APCPathogenic1554085355RCV000763543; RCV000763543; RCV000763543; RCV000763543; RCV000763543; RCV000657604; NMedGen:C0699790,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:H5112175158112175158-CN517202 not provided;
NM_000038.5(APC):c.4372C>T (p.Pro1458Ser)324APCUncertain significance143796828RCV000515179; RCV000515179; RCV000196865; RCV000515179; RCV000515179; RCV000159555; RCV000515179; RCV000034415; NMedGen:C0699790,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:25370005112175663112175663-C0699790 114500 Carcinoma of colon;
NM_000038.5(APC):c.4847A>T (p.Lys1616Ile)324APCUncertain significance1554086241RCV000764564; RCV000764564; RCV000542952; RCV000764564; RCV000764564; RCV000564351; RCV000764564; NMedGen:C0699790,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:25370005112176138112176138-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.5105G>A (p.Gly1702Glu)324APCUncertain significance769273526RCV000764565; RCV000764565; RCV000231340; RCV000764565; RCV000764565; RCV000163348; RCV000764565; RCV000758732; NMedGen:C0699790,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:25370005112176396112176396-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.5363G>A (p.Arg1788His)324APCConflicting interpretations of pathogenicity201472075RCV000393057; RCV000764566; RCV000764566; RCV000232274; RCV000764566; RCV000764566; RCV000159559; RCV000764566; RCV000590729; RCV000211922; NMedGen:CN239210; MedGen:C0699790,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,S5112176654112176654-CN239210 APC-Associated Polyposis Disorders;
NM_000038.5(APC):c.6257C>G (p.Pro2086Arg)324APCUncertain significance786202975RCV000515279; RCV000515279; RCV000205730; RCV000515279; RCV000515279; RCV000166066; RCV000515279; NMedGen:C0699790,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:25370005112177548112177548-C0699790 114500 Carcinoma of colon;
NM_000038.5(APC):c.6639G>A (p.Met2213Ile)324APCConflicting interpretations of pathogenicity35540155RCV000765788; RCV000765788; RCV000409211; RCV000765788; RCV000765788; RCV000130211; RCV000765788; RCV000484737; NMedGen:C0699790,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:25370005112177930112177930-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly)324APCConflicting interpretations of pathogenicity201375478RCV000515374; RCV000515374; RCV000200083; RCV000515374; RCV000664301; RCV000515374; RCV000115114; RCV000515374; RCV000034395; RCV000211930; NMedGen:C0699790,OMIM:114500,SNOMED CT:269533000; MedGen:C1851124,OMIM:135290; MedGen:C2713442,OMIM:175100; MedGen:C2713442,OMIM:175100; MedGen:C0032580, Orphanet:ORPHA733,SNOMED CT:72900001; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orph5112178015112178015-C0699790 114500 Carcinoma of colon;
NM_000038.5(APC):c.6736G>A (p.Val2246Ile)324APCUncertain significance1055180096RCV000765789; RCV000765789; RCV000646326; RCV000765789; RCV000765789; RCV000569003; RCV000765789; NMedGen:C0699790,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:25370005112178027112178027-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser)324APCConflicting interpretations of pathogenicity200756935RCV000515182; RCV000515182; RCV000168320; RCV000515182; RCV000515182; RCV000115118; RCV000515182; RCV000034397; RCV000120030; NMedGen:C0699790,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:25370005112178327112178327-C0699790 114500 Carcinoma of colon;
NM_000038.5(APC):c.7166G>A (p.Ser2389Asn)324APCUncertain significance779287035RCV000765790; RCV000765790; RCV000526527; RCV000765790; RCV000765790; RCV000564175; RCV000765790; RCV000586700; NMedGen:C0699790,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:25370005112178457112178457-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.8276G>A (p.Arg2759His)324APCUncertain significance538289470RCV000765791; RCV000765791; RCV000458007; RCV000765791; RCV000765791; RCV000130304; RCV000765791; NMedGen:C0699790,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:25370005112179567112179567-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.8332G>T (p.Ala2778Ser)324APCConflicting interpretations of pathogenicity587778046RCV000199434; RCV000677786; RCV000163521; RCV000677787; RCV000677785; RCV000120047; 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:699346009; MedGen:C0345905; Human Phenotype Ontology:HP:0002896,MedGen:C0023905112179623112179623-C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly)324APCConflicting interpretations of pathogenicity147287751RCV000283075; RCV000515282; RCV000515282; RCV000198030; RCV000515282; RCV000515282; RCV000129949; RCV000515282; RCV000656753; RCV000235404; NMedGen:CN239210; MedGen:C0699790,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,S5112179680112179680-CN239210 APC-Associated Polyposis Disorders;
NM_000038.5(APC):c.8462A>G (p.Asp2821Gly)324APCUncertain significance780049836RCV000765792; RCV000765792; RCV000196318; RCV000765792; RCV000765792; RCV000567493; RCV000765792; RCV000478701; RCV000779724; NMedGen:C0699790,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:25370005112179753112179753-C2713442 175100 Familial adenomatous polyposis 1;
NM_003502.3(AXIN1):c.1085_1116del (p.Val362Alafs)8312AXIN1Pathogenic587776627RCV000006408; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:2537000116359973360004OMIM Allelic Variant:603816.0001
NM_033355.3(CASP8):c.1228_1229del (p.Val410Phefs)841CASP8Pathogenic587776665RCV000008202; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700012202149964202149965OMIM Allelic Variant:601763.0002C2239176 114550 Hepatocellular carcinoma;
NM_000077.4(CDKN2A):c.249C>G (p.His83Gln)1029CDKN2ALikely pathogenic34968276RCV000422116; 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; H92197110921971109-C0278701 Adenocarcinoma of stomach;
NM_058195.3(CDKN2A):c.291A>G (p.Ala97=)1029CDKN2ALikely pathogenic1057519881RCV000437058; 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; H92197111021971110-C0278701 Adenocarcinoma of stomach;
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr)1029CDKN2AUncertain significance121913385RCV000432117; 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,SNOM92197111121971111-C0278701 Adenocarcinoma of stomach;
NM_058195.3(CDKN2A):c.290C>G (p.Ala97Gly)1029CDKN2ALikely pathogenic121913385RCV000436374; 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; H92197111121971111-C0278701 Adenocarcinoma of stomach;
NM_001271635.1(CNOT9):c.259T>C (p.Ser87Pro)9125CNOT9Likely pathogenic1057519956RCV000438382; 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:C0279682219447748219447748-C0007112 Adenocarcinoma of prostate;
NM_001271634.1(CNOT9):c.260C>G (p.Ser87Cys)9125CNOT9Likely pathogenic1057519957RCV000427048; 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:C0279682219447749219447749-C0007112 Adenocarcinoma of prostate;
NM_004380.2(CREBBP):c.4337G>T (p.Arg1446Leu)1387CREBBPLikely pathogenic1057519884RCV000434630; 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,MedGen1637886173788617-C0278701 Adenocarcinoma of stomach;
NM_004380.2(CREBBP):c.4337G>A (p.Arg1446His)1387CREBBPLikely pathogenic1057519884RCV000441923; 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,MedGen1637886173788617-C0278701 Adenocarcinoma of stomach;
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys)1387CREBBPConflicting interpretations of pathogenicity398124146RCV000426447; RCV000434703; RCV000426681; RCV000433226; RCV000443206; RCV000418574; RCV000425760; RCV000700948; RCV000441267; RCV000442404; RCV000436055; RCV000423556; RCV000081052; 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,MedGen1637886183788618-C0278701 Adenocarcinoma of stomach;
NM_004380.2(CREBBP):c.4336C>G (p.Arg1446Gly)1387CREBBPLikely pathogenic398124146RCV000439458; 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,MedGen1637886183788618-C0278701 Adenocarcinoma of stomach;
NM_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr)1499CTNNB1Pathogenic/Likely pathogenic, other28931588RCV000441036; RCV000418154; RCV000426162; RCV000019144; RCV000430774; RCV000426839; RCV000419388; RCV000437074; RCV000128842; RCV000438170; RCV000420526; NMedGen:C0007112; MedGen:C0278701; Human Phenotype Ontology:HP:0030062,MeSH:D003397,MedGen:C0010276, Orphanet:ORPHA54595; Human Phenotype Ontology:HP:0002884,MedGen:C0206624, Orphanet:ORPHA449; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Or34126609741266097OMIM Allelic Variant:116806.0004,OMIM Allelic Variant:116806.0016,UniProtKB (protein):P35222#VAR_017616C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.94G>C (p.Asp32His)1499CTNNB1Likely pathogenic28931588RCV000439366; 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,SNOM34126609741266097-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.94G>A (p.Asp32Asn)1499CTNNB1Likely pathogenic28931588RCV000421306; 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:34126609741266097-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly)1499CTNNB1Pathogenic/Likely pathogenic121913396RCV000433199; RCV000443060; RCV000443883; RCV000437703; RCV000417687; RCV000435333; RCV000427896; RCV000019140; RCV000425010; RCV000427454; RCV000087199; 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,SNOM34126609841266098OMIM Allelic Variant:116806.0006,UniProtKB (protein):P35222#VAR_017615C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.95A>C (p.Asp32Ala)1499CTNNB1Likely pathogenic121913396RCV000439506; 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,SNOM34126609841266098-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.95A>T (p.Asp32Val)1499CTNNB1Likely pathogenic121913396RCV000439390; 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,Orpha34126609841266098-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.97T>C (p.Ser33Pro)1499CTNNB1Likely pathogenic1057519886RCV000436119; 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:H34126610041266100-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.97T>G (p.Ser33Ala)1499CTNNB1Likely pathogenic1057519886RCV000443586; 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:H34126610041266100-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.97T>A (p.Ser33Thr)1499CTNNB1Likely pathogenic1057519886RCV000424580; 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:H34126610041266100-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr)1499CTNNB1Pathogenic/Likely pathogenic121913400RCV000418289; RCV000430278; RCV000019138; RCV000423917; RCV000443472; RCV000426112; RCV000444481; RCV000434171; RCV000435972; RCV000435233; RCV000443834; RCV000424968; RCV000019139; RCV000437025; NMedGen:C0007112; MedGen:C0278701; MedGen:C0699790,OMIM:114500,SNOMED CT:269533000; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; MeSH:D016889,MedGen:C0014170; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet34126610141266101OMIM Allelic Variant:116806.0002,UniProtKB (protein):P35222#VAR_017619C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe)1499CTNNB1Pathogenic/Likely pathogenic, other121913400RCV000505658; RCV000443180; RCV000439964; RCV000437352; RCV000438845; RCV000434049; RCV000421635; RCV000420986; RCV000019148; RCV000418596; RCV000423964; RCV000019147; RCV000428161; Nna; MedGen: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 Ontolog34126610141266101OMIM Allelic Variant:116806.0007,OMIM Allelic Variant:116806.0015,UniProtKB (protein):P35222#VAR_017617C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys)1499CTNNB1Likely pathogenic, other121913400RCV000432570; 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:H34126610141266101-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.100G>C (p.Gly34Arg)1499CTNNB1Likely pathogenic121913399RCV000418083; 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,Orph34126610341266103-C0278701 Adenocarcinoma of stomach;
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu)1499CTNNB1Pathogenic/Likely pathogenic, other28931589RCV000423249; RCV000432939; RCV000443851; RCV000439589; RCV000434538; RCV000433938; RCV000443977; RCV000426491; RCV000019149; RCV000422250; 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:0034126610441266104OMIM Allelic Variant:116806.0008,UniProtKB (protein):P35222#VAR_017620C0278701 Adenocarcinoma of stomach;
NM_001904.3(CTNNB1):c.101G>C (p.Gly34Ala)1499CTNNB1Likely pathogenic28931589RCV000427731; 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:0034126610441266104-C0278701 Adenocarcinoma of stomach;
NM_001904.3(CTNNB1):c.109T>C (p.Ser37Pro)1499CTNNB1Likely pathogenic121913228RCV000431861; 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:H34126611241266112-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.109T>G (p.Ser37Ala)1499CTNNB1Likely pathogenic121913228RCV000419658; 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:H34126611241266112-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys)1499CTNNB1Pathogenic/Likely pathogenic121913403RCV000441696; RCV000438791; RCV000422240; RCV000423597; RCV000432924; RCV000421574; RCV000431366; RCV000019141; RCV000444056; RCV000030945; RCV000445258; RCV000430788; RCV000087195; 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:H34126611341266113OMIM Allelic Variant:116806.0009,OMIM Allelic Variant:116806.0012,UniProtKB (protein):P35222#VAR_017625C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe)1499CTNNB1Pathogenic/Likely pathogenic121913403RCV000433883; RCV000444520; RCV000436738; RCV000442576; RCV000426489; RCV000445320; RCV000425340; RCV000428583; RCV000420061; RCV000019151; RCV000437726; RCV000427490; 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:ORPHA88673,34126611341266113OMIM Allelic Variant:116806.0010,UniProtKB (protein):P35222#VAR_017626C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr)1499CTNNB1Pathogenic/Likely pathogenic121913403RCV000441059; 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:ORPHA88673,34126611341266113-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala)1499CTNNB1Conflicting interpretations of pathogenicity, other121913412RCV000419429; RCV000421001; RCV000019143; RCV000019142; RCV000438649; RCV000432978; RCV000430146; RCV000431914; RCV000440817; RCV000421675; RCV000087196; NMedGen:C0007112; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; MedGen:C2675440; Human Phenotype Ontology:HP:0002884,MedGen:C0206624, Orphanet:ORPHA449; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orp34126612441266124OMIM Allelic Variant:116806.0003,UniProtKB (protein):P35222#VAR_017629C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile)1499CTNNB1Pathogenic/Likely pathogenic121913413RCV000422057; RCV000442251; RCV000442963; RCV000436836; RCV000443038; RCV000426659; RCV000432291; RCV000427656; RCV000019152; 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:0034126612541266125OMIM Allelic Variant:116806.0011,UniProtKB (protein):P35222#VAR_017630C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.122C>A (p.Thr41Asn)1499CTNNB1Likely pathogenic121913413RCV000420278; 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:0034126612541266125-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr)1499CTNNB1Pathogenic/Likely pathogenic121913409RCV000424917; 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,SNOM34126613741266137-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.134C>G (p.Ser45Cys)1499CTNNB1Likely pathogenic121913409RCV000428521; 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:18776900934126613741266137-C0007112 Adenocarcinoma of prostate;
NM_001904.3(CTNNB1):c.283C>T (p.Arg95Ter)1499CTNNB1Pathogenic775104326RCV000763110; RCV000763110; RCV000763110; RCV000624646; RCV000763110; RCV000415150; RCV000763110; RCV000763110; RCV000763110; RCV000256097; NMedGen:C0699790,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:34126648641266486-C0950123 Inborn genetic diseases;
NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn)2260FGFR1Likely pathogenic1057519897RCV000443011; 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,SN83827230638272306-C0004114 Astrocytoma;
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys)2778GNASPathogenic/Likely pathogenic11554273RCV000443647; RCV000439728; RCV000133503; RCV000422043; RCV000431495; RCV000444862; RCV000017287; RCV000420084; RCV000437784; RCV000427542; RCV000508635; RCV000429524; RCV000017289; RCV000421422; RCV000432295; YMedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; MedGen:C1857451,OMIM:219080; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Hu205748442057484420OMIM Allelic Variant:139320.0008,UniProtKB (protein):P63092#VAR_003442C0278701 Adenocarcinoma of stomach;
NM_000516.5(GNAS):c.602G>A (p.Arg201His)2778GNASPathogenic/Likely pathogenic121913495RCV000419515; RCV000421581; RCV000017292; RCV000428995; RCV000439229; RCV000436559; RCV000017290; RCV000430768; RCV000443822; RCV000426918; RCV000508670; RCV000429798; RCV000017293; RCV000418739; RCV000437187; YMedGen:C0278701; Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686, Orphanet:ORPHA1501; MedGen:C1857451,OMIM:219080; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Hu205748442157484421OMIM Allelic Variant:139320.0009,UniProtKB (protein):P63092#VAR_003441C0278701 Adenocarcinoma of stomach;
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu)2778GNASPathogenic/Likely pathogenic121913495RCV000428316; 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:00205748442157484421UniProtKB (protein):P63092#VAR_017845C0278701 Adenocarcinoma of stomach;
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met)3418IDH2Pathogenic/Likely pathogenic121913503RCV000431159; 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,SNO159063183890631838-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys)3418IDH2Pathogenic/Likely pathogenic121913503RCV000421863; 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,SNO159063183890631838-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp)3418IDH2Likely pathogenic1057519906RCV000437853; 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,SNO159063183990631839-C0023467 601626 Acute myeloid leukemia;
NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly)3418IDH2Likely pathogenic1057519906RCV000429662; 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,SNO159063183990631839-C0023467 601626 Acute myeloid leukemia;
NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val)3482IGF2RPathogenic121434587RCV000015918; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700016160490993160490993OMIM Allelic Variant:147280.0001C2239176 114550 Hepatocellular carcinoma;
NM_000876.3(IGF2R):c.4391G>A (p.Gly1464Glu)3482IGF2RPathogenic121434588RCV000015919; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700016160491038160491038OMIM Allelic Variant:147280.0002C2239176 114550 Hepatocellular carcinoma;
NM_004985.4(KRAS):c.351A>C (p.Lys117Asn)3845KRASPathogenic/Likely pathogenic770248150RCV000443670; 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:936122537864725378647-C0278701 Adenocarcinoma of stomach;
NM_001127500.2(MET):c.142G>A (p.Ala48Thr)4233METUncertain significance374050750RCV000764682; 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; Human Phenotype Ontology:HP:0005584,Me7116339280116339280-C0027672 Hereditary cancer-predisposing syndrome;
NM_001127500.2(MET):c.143C>G (p.Ala48Gly)4233METUncertain significance80256822RCV000765914; 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; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116339281116339281-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.1(MET):c.406G>A (p.Val136Ile)4233METUncertain significance199701987RCV000515234; RCV000515234; RCV000130870; RCV000515234; RCV000199439; RCV000515234; RCV000484898; 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; Human Phenotype Ontology:HP:0005584,Me7116339544116339544-
NM_001127500.2(MET):c.762A>C (p.Glu254Asp)4233METUncertain significance-1RCV000765915; RCV000765915; 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:C4085248,OMIM:607278; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116339900116339900-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.2(MET):c.799G>A (p.Glu267Lys)4233METUncertain significance755954919RCV000765916; 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; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116339937116339937-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.2(MET):c.1157T>G (p.Leu386Arg)4233METUncertain significance1554379180RCV000765917; 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; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116340295116340295-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.2(MET):c.1174C>A (p.Pro392Thr)4233METUncertain significance886061943RCV000765918; 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; Human Phenotype Ontology:HP:0005584,Me7116340312116340312-C0027672 Hereditary cancer-predisposing syndrome;
NM_001127500.2(MET):c.1444G>A (p.Asp482Asn)4233METUncertain significance863224694RCV000765919; 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; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116380055116380055-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001127500.2(MET):c.1669A>G (p.Thr557Ala)4233METUncertain significance374733251RCV000765920; RCV000765920; RCV000163595; RCV000765920; RCV000167933; RCV000765920; 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; Human Phenotype Ontology:HP:0005584,Me7116381047116381047-C0027672 Hereditary cancer-predisposing syndrome;
NM_001127500.2(MET):c.4088T>C (p.Ile1363Thr)4233METUncertain significance768188910RCV000765921; RCV000765921; 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:C4085248,OMIM:607278; Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:60507116436039116436039-C0007134 605074 Renal cell carcinoma, papillary, 1;
NM_001313902.1(NFE2L2):c.237G>T (p.Glu79Asp)4780NFE2L2Likely pathogenic1057519924RCV000438261; 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; Huma2178098808178098808-C2239176 114550 Hepatocellular carcinoma;
NM_001145413.3(NFE2L2):c.188A>T (p.Glu63Val)4780NFE2L2Likely pathogenic1057519923RCV000442257; 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; Huma2178098809178098809-C2239176 114550 Hepatocellular carcinoma;
NM_001145413.3(NFE2L2):c.187G>C (p.Glu63Gln)4780NFE2L2Likely pathogenic1057519922RCV000426554; 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; Huma2178098810178098810-C2239176 114550 Hepatocellular carcinoma;
NM_001313904.1(NFE2L2):c.6G>A (p.Lys2=)4780NFE2L2Pathogenic/Likely pathogenic1057519922RCV000421132; 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:2752178098810178098810OMIM Allelic Variant:600492.0004C2239176 114550 Hepatocellular carcinoma;
NM_006218.3(PIK3CA):c.1357G>A (p.Glu453Lys)5290PIK3CALikely pathogenic1057519925RCV000422944; RCV000425038; RCV000442682; RCV000433137; RCV000443243; RCV000434215; RCV000423945; 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:C5382313178928079178928079-C0278701 Adenocarcinoma of stomach;
NM_006218.3(PIK3CA):c.1357G>C (p.Glu453Gln)5290PIK3CALikely pathogenic1057519925RCV000418841; 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:C5382313178928079178928079-C0278701 Adenocarcinoma of stomach;
NM_006218.3(PIK3CA):c.1359A>T (p.Glu453Asp)5290PIK3CALikely pathogenic1057519926RCV000434200; 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:C5382313178928081178928081-C0278701 Adenocarcinoma of stomach;
NM_006218.3(PIK3CA):c.1624G>C (p.Glu542Gln)5290PIK3CALikely pathogenic121913273RCV000418640; RCV000433655; RCV000423606; RCV000444624; RCV000440174; RCV000435331; RCV000425149; RCV000428863; RCV000429976; RCV000417562; RCV000421205; 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:ORPHA886733178936082178936082-C0007112 Adenocarcinoma of prostate;
NM_006218.3(PIK3CA):c.1625A>C (p.Glu542Ala)5290PIK3CALikely pathogenic1057519927RCV000419304; 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:ORPHA886733178936083178936083-C0007112 Adenocarcinoma of prostate;
NM_006218.3(PIK3CA):c.1625A>T (p.Glu542Val)5290PIK3CALikely pathogenic1057519927RCV000427245; 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:ORPHA886733178936083178936083-C0007112 Adenocarcinoma of prostate;
NM_006218.3(PIK3CA):c.1625A>G (p.Glu542Gly)5290PIK3CALikely pathogenic1057519927RCV000443286; 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:ORPHA886733178936083178936083-C0007112 Adenocarcinoma of prostate;
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068Lysfs)5290PIK3CAPathogenic587776802RCV000014641; RCV000014642; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; Human Phenotype Ontology:HP:0006753,MeSH:D013274,MedGen:C0038356,OMIM:613659,SNOMED CT:1268240073178952148178952148OMIM Allelic Variant:171834.0007C2239176 114550 Hepatocellular carcinoma;
NM_001291921.1(RXRA):c.989C>T (p.Ser330Phe)6256RXRALikely pathogenic1057519958RCV000437431; 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:C02796809137328351137328351-C2239176 114550 Hepatocellular carcinoma;
NM_001291921.1(RXRA):c.989C>A (p.Ser330Tyr)6256RXRALikely pathogenic1057519958RCV000435929; 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:C02796809137328351137328351-C2239176 114550 Hepatocellular carcinoma;
NM_001122821.1(SET):c.740A>G (p.Glu247Gly)6418SETother768759521RCV000505665; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:253700019131456212131456212-C2239176 114550 Hepatocellular carcinoma;
NM_012433.3(SF3B1):c.1996A>C (p.Lys666Gln)23451SF3B1Likely pathogenic754688962RCV000445187; 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:2532198267361198267361-C0023434 151400 Chronic lymphocytic leukemia;
NM_006842.2(SF3B2):c.1997A>C (p.His666Pro)10992SF3B2Likely pathogenic1057519959RCV000428737; 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:253116583049965830499-C0023434 151400 Chronic lymphocytic leukemia;
NM_001193376.1(TERT):c.2004G>C (p.Glu668Asp)7015TERTPathogenic1554040964RCV000499860; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001512795321279532-C2239176 114550 Hepatocellular carcinoma;
NM_001193376.1(TERT):c.578C>T (p.Pro193Leu)7015TERTUncertain significance751762765RCV000500779; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001512944231294423-C2239176 114550 Hepatocellular carcinoma;
NM_001193376.1(TERT):c.337dupG (p.Glu113Glyfs)7015TERTPathogenic1554043088RCV000504167; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001512946641294664-C2239176 114550 Hepatocellular carcinoma;
NM_001193376.1(TERT):c.200C>T (p.Ala67Val)7015TERTLikely pathogenic1554043124RCV000502409; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001512949051294905-C2239176 114550 Hepatocellular carcinoma;
NM_000546.5(TP53):c.845G>A (p.Arg282Gln)7157TP53Conflicting interpretations of pathogenicity730882008RCV000423658; 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:ORPHA886731775770937577093UniProtKB (protein):P04637#VAR_045387C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.845G>C (p.Arg282Pro)7157TP53Likely pathogenic730882008RCV000432620; 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:ORPHA886731775770937577093-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.844C>G (p.Arg282Gly)7157TP53Pathogenic28934574RCV000430047; RCV000431764; RCV000422747; RCV000425179; RCV000427647; RCV000129010; RCV000422134; RCV000440446; RCV000430393; RCV000419993; RCV000437219; RCV000445294; RCV000419333; RCV000442627; RCV000422367; RCV000440653; RCV000442540; RCV000435503; RCV000432433; 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:ORPHA886731775770947577094UniProtKB (protein):P04637#VAR_045384C0007112 Adenocarcinoma of prostate;
NM_001126116.1(TP53):c.425T>A (p.Val142Asp)7157TP53Likely pathogenic1057520006RCV000434236; 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,SNOM1775771177577117-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.821T>G (p.Val274Gly)7157TP53Conflicting interpretations of pathogenicity1057520006RCV000426446; 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 Ph1775771177577117-C0007112 Adenocarcinoma of prostate;
NM_001126113.2(TP53):c.821T>C (p.Val274Ala)7157TP53Likely pathogenic1057520006RCV000426772; 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,SNOM1775771177577117-C0007112 Adenocarcinoma of prostate;
NM_001126116.1(TP53):c.424G>T (p.Val142Phe)7157TP53Likely pathogenic1057520005RCV000435470; 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,SNOM1775771187577118-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.820G>C (p.Val274Leu)7157TP53Uncertain significance1057520005RCV000422877; 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:C531775771187577118-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.817C>T (p.Arg273Cys)7157TP53Conflicting interpretations of pathogenicity121913343RCV000442470; RCV000432002; RCV000131966; RCV000205625; RCV000144665; RCV000149051; RCV000431786; RCV000421090; RCV000254692; NHuman Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626, Orphanet:ORPHA519,SNOMED CT:17788007; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,1775771217577121UniProtKB (protein):P04637#VAR_005993C0023467 601626 Acute myeloid leukemia;
NM_000546.5(TP53):c.747G>T (p.Arg249Ser)7157TP53Conflicting interpretations of pathogenicity28934571RCV000013146; RCV000013145; RCV000579519; RCV000464372; NMedGen:C0302592,OMIM:603956,SNOMED CT:285432005; 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:421775775347577534OMIM Allelic Variant:191170.0006,UniProtKB (protein):P04637#VAR_005986C0302592 603956 Carcinoma of cervix;
NM_000546.5(TP53):c.746G>A (p.Arg249Lys)7157TP53Uncertain significance587782329RCV000445113; RCV000419850; RCV000427275; RCV000429319; RCV000437502; RCV000131246; RCV000430131; RCV000429077; RCV000420497; RCV000421647; RCV000438874; RCV000439985; RCV000440358; RCV000421887; RCV000431473; RCV000419499; RCV000724753; 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:ORPHA886731775775357577535UniProtKB (protein):P04637#VAR_045248C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.746G>T (p.Arg249Met)7157TP53Uncertain significance587782329RCV000439247; RCV000420945; RCV000431805; RCV000434651; RCV000421561; RCV000690948; RCV000422393; RCV000430463; RCV000429799; 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:ORPHA886731775775357577535-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.745A>G (p.Arg249Gly)7157TP53Uncertain significance587782082RCV000418381; RCV000419254; RCV000423993; RCV000427287; RCV000427933; RCV000467567; RCV000426656; RCV000436898; RCV000437517; 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:ORPHA886731775775367577536-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.731G>A (p.Gly244Asp)7157TP53Pathogenic/Likely pathogenic985033810RCV000439239; RCV000428997; RCV000421269; RCV000440742; RCV000561866; RCV000477083; RCV000429659; RCV000444224; RCV000444195; RCV000419371; 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:187761775775507577550-C0278701 Adenocarcinoma of stomach;
NM_001126118.1(TP53):c.614G>T (p.Gly205Val)7157TP53Likely pathogenic985033810RCV000433321; RCV000443964; RCV000424338; RCV000420188; RCV000440310; RCV000433805; RCV000417831; RCV000430897; 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:187761775775507577550-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.730G>T (p.Gly244Cys)7157TP53Uncertain significance1057519989RCV000443459; 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:187761775775517577551-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.730G>A (p.Gly244Ser)7157TP53Pathogenic/Likely pathogenic1057519989RCV000442909; 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:187761775775517577551-C0278701 Adenocarcinoma of stomach;
NM_001126115.1(TP53):c.334G>C (p.Gly112Arg)7157TP53Likely pathogenic1057519989RCV000419267; 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:187761775775517577551-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.716A>G (p.Asn239Ser)7157TP53Likely pathogenic1057519999RCV000442626; 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:C015201775775657577565-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.716A>C (p.Asn239Thr)7157TP53Uncertain significance1057519999RCV000430564; 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:C531775775657577565-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.715A>G (p.Asn239Asp)7157TP53Conflicting interpretations of pathogenicity876660807RCV000423612; 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 Ph1775775667577566UniProtKB (protein):P04637#VAR_045204C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser)7157TP53Pathogenic121912666RCV000428157; RCV000445060; RCV000444276; RCV000423167; RCV000472593; RCV000013183; RCV000422874; RCV000432708; RCV000435597; RCV000443214; RCV000429097; RCV000441465; RCV000425300; RCV000424238; RCV000441285; RCV000417473; RCV000430581; RCV000425801; RCV000418406; 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:C0085390, Orphanet:ORPHA521775781907578190OMIM Allelic Variant:191170.0039,UniProtKB (protein):P04637#VAR_005959C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.658T>C (p.Tyr220His)7157TP53Uncertain significance530941076RCV000422371; RCV000440468; RCV000420142; RCV000422197; RCV000566866; RCV000444451; RCV000425148; RCV000440668; RCV000431076; RCV000417798; RCV000433089; RCV000420004; RCV000439425; RCV000435010; RCV000436002; RCV000438238; RCV000430823; RCV000431992; RCV000429815; RCV00044; 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:6993461775781917578191-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn)7157TP53Likely pathogenic530941076RCV000419021; 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:6993461775781917578191-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.658T>G (p.Tyr220Asp)7157TP53Likely pathogenic530941076RCV000444915; 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:00301775781917578191-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys)7157TP53Likely pathogenic1057520007RCV000443687; 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:21775782357578235-C0152018 Carcinoma of esophagus;
NM_001126117.1(TP53):c.218A>T (p.Tyr73Phe)7157TP53Likely pathogenic1057520007RCV000438926; 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:21775782357578235-C0152018 Carcinoma of esophagus;
NM_001126118.1(TP53):c.497A>C (p.Tyr166Ser)7157TP53Likely pathogenic1057520007RCV000426347; 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:21775782357578235-C0152018 Carcinoma of esophagus;
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn)7157TP53Uncertain significance1057520008RCV000417461; RCV000433474; RCV000426051; 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:21775782367578236-C0152018 Carcinoma of esophagus;
NM_000546.5(TP53):c.613T>C (p.Tyr205His)7157TP53Uncertain significance1057520008RCV000422887; RCV000424493; RCV000431958; RCV000775886; 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:21775782367578236-C0152018 Carcinoma of esophagus;
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp)7157TP53Uncertain significance1057520008RCV000444122; 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:21775782367578236-C0152018 Carcinoma of esophagus;
NM_000546.5(TP53):c.581T>G (p.Leu194Arg)7157TP53Uncertain significance1057519998RCV000437791; RCV000428827; RCV000561306; RCV000535418; RCV000436915; RCV000420755; RCV000431014; RCV000430366; 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:ORP1775782687578268-C0017636 Glioblastoma;
NM_000546.5(TP53):c.581T>A (p.Leu194His)7157TP53Uncertain significance1057519998RCV000431615; RCV000427064; RCV000565549; RCV000443173; RCV000434795; RCV000426499; RCV000436747; 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:1775782687578268-C0017636 Glioblastoma;
NM_000546.5(TP53):c.581T>C (p.Leu194Pro)7157TP53Uncertain significance1057519998RCV000441162; 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 Phen1775782687578268-C0017636 Glioblastoma;
NM_000546.5(TP53):c.580C>T (p.Leu194Phe)7157TP53Likely pathogenic587780071RCV000419908; RCV000434383; RCV000428029; RCV000429595; RCV000417813; RCV000439186; RCV000418414; RCV000426684; RCV000439843; RCV000436065; RCV000421548; RCV000115728; 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; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C01520131775782697578269UniProtKB (protein):P04637#VAR_044997C0017636 Glioblastoma;
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)7157TP53Pathogenic148924904RCV000436926; RCV000435593; RCV000419946; RCV000492788; RCV000526324; RCV000434917; RCV000434251; RCV000443742; RCV000430191; RCV000419252; RCV000442798; RCV000429510; RCV000424864; RCV000443833; RCV000423543; RCV000427698; RCV000115725; 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; MedGen1775784427578442UniProtKB (protein):P04637#VAR_033035C0677865 Brainstem glioma;
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp)7157TP53Likely pathogenic786203436RCV000435516; RCV000434903; RCV000420721; RCV000166739; RCV000424608; RCV000425235; RCV000432709; RCV000426124; RCV000430982; RCV000444147; RCV000441262; RCV000417885; RCV000433509; RCV000443587; RCV000420162; 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; MedGen1775784437578443UniProtKB (protein):P04637#VAR_044869C0677865 Brainstem glioma;
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn)7157TP53Uncertain significance786203436RCV000443877; 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; MedGen1775784437578443-C0677865 Brainstem glioma;
NM_001126112.2(TP53):c.487T>C (p.Tyr163His)7157TP53Likely pathogenic786203436RCV000431265; RCV000418221; RCV000440924; 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; Human 1775784437578443-C0677865 Brainstem glioma;
NM_000546.5(TP53):c.469G>T (p.Val157Phe)7157TP53Likely pathogenic121912654RCV000013147; RCV000566103; NHuman Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001; MedGen:C0027672,SNOMED CT:6993460091775784617578461OMIM Allelic Variant:191170.0007,UniProtKB (protein):P04637#VAR_005904C2239176 114550 Hepatocellular carcinoma;
NM_000546.5(TP53):c.452C>A (p.Pro151His)7157TP53Uncertain significance1057520000RCV000443403; RCV000444401; RCV000421293; RCV000422381; RCV000633371; RCV000438983; RCV000423439; RCV000440037; RCV000442618; RCV000432614; RCV000433715; RCV000428730; 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:C008531775784787578478-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.452C>G (p.Pro151Arg)7157TP53Uncertain significance1057520000RCV000425600; 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:C008531775784787578478-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.451C>A (p.Pro151Thr)7157TP53Likely pathogenic28934874RCV000418145; RCV000428384; RCV000013168; RCV000424222; RCV000442802; RCV000130617; RCV000691152; RCV000433405; RCV000417493; RCV000443817; RCV000434485; RCV000428836; RCV000437544; RCV000425139; RCV000423161; RCV000440812; RCV000429500; RCV000422094; RCV000439740; RCV00043; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; MedGen:C0858252, Orphanet:ORPHA213528; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187761775784797578479OMIM Allelic Variant:191170.0025,UniProtKB (protein):P04637#VAR_005896C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.451C>T (p.Pro151Ser)7157TP53Pathogenic/Likely pathogenic28934874RCV000420869; RCV000432585; RCV000013169; RCV000421928; RCV000443020; RCV000219702; RCV000633355; RCV000427411; RCV000420199; RCV000422996; RCV000426058; RCV000435681; RCV000440140; RCV000429847; RCV000424996; RCV000440887; RCV000433689; RCV000438074; RCV000443379; RCV00043; NMedGen:C0278701; MeSH:D003528,MedGen:C0010606; MedGen:C0858252, Orphanet:ORPHA213528; Human Phenotype Ontology:HP:0011459,MedGen:C0152018, Orphanet:ORPHA70482; Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550, Orphanet:ORPHA88673,SNOMED CT:187761775784797578479HGMD:CM941326,OMIM Allelic Variant:191170.0026,UniProtKB (protein):P04637#VAR_005895C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.451C>G (p.Pro151Ala)7157TP53Uncertain significance28934874RCV000443386; 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:C008531775784797578479-C0278701 Adenocarcinoma of stomach;
NM_001126118.1(TP53):c.315G>T (p.Gln105His)7157TP53Likely pathogenic786201419RCV000437256; 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 Phenot1775784987578498-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.431A>C (p.Gln144Pro)7157TP53Uncertain significance786203071RCV000419105; RCV000423271; RCV000166212; RCV000433977; RCV000428907; RCV000439853; RCV000440211; RCV000439592; RCV000422986; NMedGen: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:C0152013; MedGen:C015351775784997578499UniProtKB (protein):P04637#VAR_005888C0278701 Adenocarcinoma of stomach;
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu)7157TP53Likely pathogenic786203071RCV000435123; RCV000425167; 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; Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013; MedGen:C0153574, Orphanet:ORPHA213569; Human Phenot1775784997578499-C0278701 Adenocarcinoma of stomach;
NM_000546.5(TP53):c.405C>G (p.Cys135Trp)7157TP53Uncertain significance1057519976RCV000430892; 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,O1775785257578525-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr)7157TP53Likely pathogenic587781991RCV000422242; RCV000429447; RCV000423651; RCV000419337; RCV000431855; RCV000130396; RCV000439440; RCV000444676; RCV000437052; RCV000428748; RCV000430048; RCV000419825; RCV000438381; RCV000421166; RCV000581322; 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,O1775785267578526UniProtKB (protein):P04637#VAR_044756C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.404G>T (p.Cys135Phe)7157TP53Likely pathogenic587781991RCV000418582; 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,O1775785267578526-C0007112 Adenocarcinoma of prostate;
NM_001126116.1(TP53):c.7T>C (p.Cys3Arg)7157TP53Likely pathogenic1057519975RCV000422903; 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,O1775785277578527-C0007112 Adenocarcinoma of prostate;
NM_001126118.1(TP53):c.286T>A (p.Cys96Ser)7157TP53Likely pathogenic1057519975RCV000444857; RCV000444883; RCV000430830; RCV000426947; RCV000438245; 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,O1775785277578527-C0007112 Adenocarcinoma of prostate;
NM_000546.5(TP53):c.403T>G (p.Cys135Gly)7157TP53Uncertain significance1057519975RCV000420954; RCV000423071; RCV000432330; RCV000428411; RCV000445231; RCV000570655; RCV000439732; RCV000444598; RCV000437581; RCV000418158; 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,O1775785277578527-C0007112 Adenocarcinoma of prostate;
MSeqDR Portal