ClinVar Miner

List of variants reported as likely pathogenic for Neoplasm

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ClinVar version:
Total variants: 116
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HGVS dbSNP
NM_000038.5(APC):c.3928_3938delAAGATTGGAAC (p.Lys1310Terfs) rs1057519843
NM_000038.5(APC):c.4669_4676delATTGATTC (p.Ile1557Terfs) rs1057519846
NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.4(CDKN2A):c.262G>T (p.Glu88Ter) rs121913384
NM_000077.4(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.4(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000314.4(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.581A>T (p.Asp194Val) rs121913316
NM_000455.4(STK11):c.595G>A (p.Glu199Lys) rs121913317
NM_000455.4(STK11):c.595G>T (p.Glu199Ter) rs121913317
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.996G>A (p.Trp332Ter) rs121913325
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.5(GNAS):c.680A>T (p.Gln227Leu) rs121913494
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.254T>C (p.Leu85Pro) rs5030828
NM_001005862.2(ERBB2):c.2236G>A (p.Gly746Ser) rs28933369
NM_001127500.2(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.2(MET):c.3743A>G (p.Tyr1248Cys) rs121913246
NM_001127500.2(MET):c.3757T>G (p.Tyr1253Asp) rs1057519824
NM_001127500.2(MET):c.3804G>A (p.Met1268Ile) rs121913676
NM_001127500.2(MET):c.3804G>C (p.Met1268Ile) rs121913676
NM_001127500.2(MET):c.3804G>T (p.Met1268Ile) rs121913676
NM_001127511.2(APC):c.3874_3893del20 (p.Lys1292Terfs) rs1057519844
NM_001127511.2(APC):c.4342_4346delGGACC (p.Gly1448Terfs) rs1057519845
NM_001289938.1(ERBB2):c.839C>A (p.Ser280Tyr) rs1057519816
NM_001289938.1(ERBB2):c.839C>T (p.Ser280Phe) rs1057519816
NM_001904.3(CTNNB1):c.118A>C (p.Thr40Pro) rs1057519836
NM_001904.3(CTNNB1):c.118A>T (p.Thr40Ser) rs1057519836
NM_001904.3(CTNNB1):c.119C>G (p.Thr40Ser) rs1057519837
NM_001982.3(ERBB3):c.2426A>G (p.Gln809Arg) rs931676601
NM_001982.3(ERBB3):c.785C>A (p.Pro262His) rs1057519817
NM_002467.5(MYC):c.169C>T (p.Pro57Ser) rs1057519849
NM_002467.5(MYC):c.176C>T (p.Ala59Val) rs775522201
NM_002467.5(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_002467.5(MYC):c.230C>T (p.Ser77Phe) rs1057519850
NM_002467.5(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_002467.5(MYC):c.778C>G (p.Pro260Ala) rs1057519851
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.296T>C (p.Ile99Thr) rs1057519819
NM_002755.3(MAP2K1):c.308T>A (p.Ile103Asn) rs730880502
NM_002755.3(MAP2K1):c.332T>A (p.Ile111Asn) rs1057519730
NM_002755.3(MAP2K1):c.356A>C (p.His119Pro) rs1057519820
NM_002755.3(MAP2K1):c.360G>C (p.Glu120Asp) rs1057519821
NM_002755.3(MAP2K1):c.360G>T (p.Glu120Asp) rs1057519821
NM_002755.3(MAP2K1):c.632T>A (p.Val211Asp) rs1057519822
NM_002755.3(MAP2K1):c.644T>C (p.Leu215Pro) rs1057519823
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.4(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.4(BRAF):c.1760A>C (p.Asp587Ala) rs121913335
NM_004333.4(BRAF):c.1761C>A (p.Asp587Glu) rs121913336
NM_004333.4(BRAF):c.1761C>G (p.Asp587Glu) rs121913336
NM_004333.4(BRAF):c.1776A>G (p.Ile592Met) rs121913362
NM_004333.4(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.5(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.5(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.5(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_005211.3(CSF1R):c.2905T>C (p.Tyr969His) rs121913393
NM_005211.3(CSF1R):c.2906A>G (p.Tyr969Cys) rs1801271
NM_005211.3(CSF1R):c.2906A>T (p.Tyr969Phe) rs1801271
NM_005211.3(CSF1R):c.2907T>A (p.Tyr969Ter) rs121913392
NM_005211.3(CSF1R):c.2907T>G (p.Tyr969Ter) rs121913392
NM_005211.3(CSF1R):c.902T>A (p.Leu301Ter) rs121913390
NM_005211.3(CSF1R):c.902T>C (p.Leu301Ser) rs121913390
NM_005343.3(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.3(HRAS):c.182_183delAGinsGA (p.Gln61Arg) rs1057519855
NM_005343.3(HRAS):c.182_183delAGinsGT (p.Gln61Arg) rs1057519855
NM_005343.3(HRAS):c.183G>C (p.Gln61His) rs121913496
NM_005343.3(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_023110.2(FGFR1):c.374C>T (p.Ser125Leu) rs121913473
NM_023110.2(FGFR1):c.754C>A (p.Pro252Thr) rs121913472
NM_058195.3(CDKN2A):c.224G>T (p.Gly75Val) rs121913382
NM_058195.3(CDKN2A):c.248G>T (p.Gly83Val) rs121913383
NM_058195.3(CDKN2A):c.373G>A (p.Gly125Arg) rs121913389
NM_176795.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_176795.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_181523.2(PIK3R1):c.1126G>A (p.Gly376Arg) rs1057519757
NM_181523.2(PIK3R1):c.1126G>C (p.Gly376Arg) rs1057519757
NM_181523.2(PIK3R1):c.1315_1317delGAA (p.Glu439del) rs1131692242
NM_181523.2(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.2(PIK3R1):c.1678G>T (p.Asp560Tyr) rs1057519839
NM_181523.2(PIK3R1):c.1678_1695del18 (p.Asp560_Ser565del) rs1057519840
NM_181523.2(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
NM_181523.2(PIK3R1):c.1692C>A (p.Asn564Lys) rs773686816
NM_181523.2(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.2(PIK3R1):c.1726_1728delACG (p.Thr576del) rs1057519842
NM_181523.2(PIK3R1):c.1747_1749delTGG (p.Trp583del) rs1131692243
NM_198291.2(SRC):c.1591C>T (p.Gln531Ter) rs121913314

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