ClinVar Miner

List of variants reported as likely pathogenic for Cutaneous melanoma

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Total variants: 81
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HGVS dbSNP
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.2(KIT):c.1676_1678TTG[1] (p.Val560del) rs121913685
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>A (p.Val654Glu) rs121913523
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2474T>C (p.Val825Ala) rs121913524
NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.119C>T (p.Thr40Ile) rs1057519837
NM_001904.4(CTNNB1):c.37G>A (p.Ala13Thr) rs121913394
NM_001904.4(CTNNB1):c.61G>A (p.Ala21Thr) rs121913395
NM_001904.4(CTNNB1):c.65T>C (p.Val22Ala) rs77064436
NM_001904.4(CTNNB1):c.65_115del (p.Val22_Gly38del) rs121913416
NM_001904.4(CTNNB1):c.74_97del (p.Trp25_Asp32del) rs121913417
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) rs28931588
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) rs121913396
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) rs121913254
NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) rs1057519834
NM_002524.5(NRAS):c.52G>A (p.Ala18Thr) rs121913248
NM_002755.3(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.3(MAP2K1):c.169A>G (p.Lys57Glu) rs397516790
NM_002755.3(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.383G>A (p.Gly128Asp) rs121908596
NM_002755.3(MAP2K1):c.385T>C (p.Phe129Leu) rs1057519805
NM_002880.3(RAF1):c.1103G>C (p.Trp368Ser) rs1057519815
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_004333.6(BRAF):c.1330C>T (p.Arg444Trp) rs121913371
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1405_1406delinsTC (p.Gly469Ser) rs1057519720
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.6(BRAF):c.1774A>G (p.Ile592Val) rs121913363
NM_004333.6(BRAF):c.1781A>C (p.Asp594Ala) rs121913338
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1784T>C (p.Phe595Ser) rs121913225
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>C (p.Val600Ala) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) rs121913377
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1801_1803del (p.Lys601del) rs121913226
NM_004333.6(BRAF):c.1802A>G (p.Lys601Arg) rs397507484
NM_004333.6(BRAF):c.1803A>C (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1803A>T (p.Lys601Asn) rs121913365
NM_004333.6(BRAF):c.1813_1814delinsTT (p.Ser605Phe) rs121913372
NM_004333.6(BRAF):c.1814G>A (p.Ser605Asn) rs121913373
NM_005163.2(AKT1):c.235C>A (p.Gln79Lys) rs1057519804
NM_005235.3(ERBB4):c.1177C>T (p.Arg393Trp) rs55671017
NM_005235.3(ERBB4):c.1354G>A (p.Glu452Lys) rs202247795
NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys) rs535202189
NM_005235.3(ERBB4):c.1630C>T (p.Arg544Trp) rs267599192
NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys) rs776347334
NM_005235.3(ERBB4):c.949G>A (p.Glu317Lys) rs267599193
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) rs1057519811
NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala) rs1057519812
NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) rs1057519813
NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr) rs1057519814
NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) rs763576329
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_030662.3(MAP2K2):c.103G>A (p.Val35Met) rs1057519810
NM_030662.3(MAP2K2):c.136C>T (p.Leu46Phe) rs1057519809
NM_030662.3(MAP2K2):c.179A>C (p.Gln60Pro) rs1057519808
NM_030662.3(MAP2K2):c.373T>A (p.Cys125Ser) rs1057519807
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806

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