ClinVar for MedGen (Select 14326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233210	NM_000051.4(ATM):c.3935G>A (p.Arg1312Lys)	ATM (R1312K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233184	NM_000051.4(ATM):c.3871C>T (p.Leu1291Phe)	ATM (L1291F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233160	NM_000051.4(ATM):c.3835T>A (p.Trp1279Arg)	ATM (W1279R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233144	NM_003072.5(SMARCA4):c.761-2A>G	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233143	NM_003072.5(SMARCA4):c.704_705insGCCTGG (p.Pro244_Ala245insGlyPro)	SMARCA4	Insertion (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233142	NM_003072.5(SMARCA4):c.695del (p.Pro232fs)	SMARCA4 (P232fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233141	NM_003072.5(SMARCA4):c.673G>A (p.Val225Met)	SMARCA4 (V225M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233140	NM_003072.5(SMARCA4):c.655A>C (p.Thr219Pro)	SMARCA4 (T219P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233139	NM_003072.5(SMARCA4):c.653C>G (p.Pro218Arg)	SMARCA4 (P218R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233138	NM_003072.5(SMARCA4):c.609G>T (p.Ala203=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233137	NM_003072.5(SMARCA4):c.55G>C (p.Gly19Arg)	SMARCA4 (G19R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233136	NM_003072.5(SMARCA4):c.507A>C (p.Pro169=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233135	NM_003072.5(SMARCA4):c.504C>T (p.Gly168=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233134	NM_003072.5(SMARCA4):c.4926T>C (p.Ser1642=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233133	NM_003072.5(SMARCA4):c.4850G>A (p.Ser1617Asn)	SMARCA4 (S1583N +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233132	NM_003072.5(SMARCA4):c.4801C>G (p.Arg1601Gly)	SMARCA4 (R1567G +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233131	NM_003072.5(SMARCA4):c.4769-3C>T	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233130	NM_003072.5(SMARCA4):c.4632C>T (p.Ser1544=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233129	NM_003072.5(SMARCA4):c.4572C>T (p.Asp1524=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233128	NM_003072.5(SMARCA4):c.464A>G (p.Asp155Gly)	SMARCA4 (D155G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233127	NM_003072.5(SMARCA4):c.4537C>A (p.Arg1513Ser)	SMARCA4 (R1480S +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233126	NM_003072.5(SMARCA4):c.4460A>G (p.Gln1487Arg)	SMARCA4 (Q1453R +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233125	NM_003072.5(SMARCA4):c.4424+5G>C	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233124	NM_003072.5(SMARCA4):c.4401T>C (p.Asp1467=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233123	NM_003072.5(SMARCA4):c.4344C>A (p.Ala1448=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233122	NM_000038.6(APC):c.1561T>G (p.Ser521Ala)	APC (S137A +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233121	NM_001387283.1(SMARCA4):c.4204A>C (p.Ser1402Arg)	SMARCA4 (S1369R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233120	NM_001387283.1(SMARCA4):c.4182A>G (p.Gly1394=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233119	NM_003072.5(SMARCA4):c.3992C>G (p.Pro1331Arg)	SMARCA4 (P1298R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233118	NM_000051.4(ATM):c.3684A>G (p.Glu1228=)	ATM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233117	NM_003072.5(SMARCA4):c.3940G>A (p.Asp1314Asn)	SMARCA4 (D1281N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233116	NM_000051.4(ATM):c.3683A>G (p.Glu1228Gly)	ATM (E1228G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233115	NM_003072.5(SMARCA4):c.3936G>C (p.Glu1312Asp)	SMARCA4 (E1279D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233114	NM_003072.5(SMARCA4):c.3918C>A (p.Ile1306=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233113	NM_003072.5(SMARCA4):c.3816C>G (p.Ala1272=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233112	NM_003072.5(SMARCA4):c.3775-5C>G	SMARCA4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233111	NM_003072.5(SMARCA4):c.3721C>T (p.His1241Tyr)	SMARCA4 (H1241Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233110	NM_003072.5(SMARCA4):c.3550C>T (p.Leu1184=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233109	NM_003072.5(SMARCA4):c.3549_3550delinsTT (p.Asp1183_Leu1184=)	SMARCA4	Indel (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233108	NM_003072.5(SMARCA4):c.3501G>T (p.Ser1167=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233107	NM_003072.5(SMARCA4):c.3450C>G (p.Phe1150Leu)	SMARCA4 (F1150L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233106	NM_003072.5(SMARCA4):c.343C>G (p.Gln115Glu)	SMARCA4 (Q115E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233105	NM_003072.5(SMARCA4):c.3422C>T (p.Thr1141Ile)	SMARCA4 (T1141I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233104	NM_003072.5(SMARCA4):c.3409A>T (p.Met1137Leu)	SMARCA4 (M1137L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233103	NM_003072.5(SMARCA4):c.3322C>T (p.Leu1108Phe)	SMARCA4 (L1108F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233102	NM_003072.5(SMARCA4):c.3311_3318del (p.Gln1104fs)	SMARCA4 (Q1104fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233101	NM_003072.5(SMARCA4):c.3248A>T (p.Glu1083Val)	SMARCA4 (E1083V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233100	NM_003072.5(SMARCA4):c.3208G>A (p.Val1070Ile)	SMARCA4 (V1070I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233099	NM_003072.5(SMARCA4):c.3060T>C (p.Asp1020=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233098	NM_003072.5(SMARCA4):c.2832del (p.Asn944fs)	SMARCA4 (N944fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233097	NM_003072.5(SMARCA4):c.2817del (p.Phe939fs)	SMARCA4 (F939fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233096	NM_003072.5(SMARCA4):c.2786_2787delinsCT (p.Leu929Pro)	SMARCA4 (L929P)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233095	NM_003072.5(SMARCA4):c.2784G>C (p.Leu928=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233094	NM_000051.4(ATM):c.3610del (p.Arg1204fs)	ATM (R1204fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233093	NM_003072.5(SMARCA4):c.2540A>C (p.Gln847Pro)	SMARCA4 (Q847P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233092	NM_003072.5(SMARCA4):c.2508A>G (p.Gly836=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233091	NM_003072.5(SMARCA4):c.2422A>C (p.Ile808Leu)	SMARCA4 (I808L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233090	NM_003072.5(SMARCA4):c.2308A>G (p.Asn770Asp)	SMARCA4 (N770D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233089	NM_000051.4(ATM):c.3586A>T (p.Lys1196Ter)	ATM (K1196*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233088	NM_003072.5(SMARCA4):c.2199C>A (p.Ala733=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233087	NM_003072.5(SMARCA4):c.2151A>G (p.Glu717=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233086	NM_003072.5(SMARCA4):c.2078del (p.Pro693fs)	SMARCA4 (P693fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3233085	NM_003072.5(SMARCA4):c.2042C>A (p.Thr681Asn)	SMARCA4 (T681N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233084	NM_003072.5(SMARCA4):c.201C>G (p.Asp67Glu)	SMARCA4 (D67E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233083	NM_003072.5(SMARCA4):c.1983C>G (p.Gly661=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233082	NM_003072.5(SMARCA4):c.1944-1G>C	SMARCA4	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3233081	NM_003072.5(SMARCA4):c.1907C>T (p.Ala636Val)	SMARCA4 (A636V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233080	NM_003072.5(SMARCA4):c.1888G>A (p.Gly630Ser)	SMARCA4 (G630S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233079	NM_000051.4(ATM):c.3574A>C (p.Lys1192Gln)	ATM (K1192Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233078	NM_003072.5(SMARCA4):c.1860C>T (p.Ile620=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233077	NM_003072.5(SMARCA4):c.1808G>T (p.Gly603Val)	SMARCA4 (G603V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233076	NM_003072.5(SMARCA4):c.178G>T (p.Gly60Trp)	SMARCA4 (G60W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233075	NM_003072.5(SMARCA4):c.1725G>A (p.Gln575=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233074	NM_003072.5(SMARCA4):c.1702_1761+3del	SMARCA4	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3233073	NM_003072.5(SMARCA4):c.160C>T (p.His54Tyr)	SMARCA4 (H54Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233072	NM_003072.5(SMARCA4):c.1591A>T (p.Met531Leu)	SMARCA4 (M531L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233071	NM_003072.5(SMARCA4):c.1506G>A (p.Lys502=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233070	NM_003072.5(SMARCA4):c.146C>G (p.Pro49Arg)	SMARCA4 (P49R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233069	NM_003072.5(SMARCA4):c.1466A>G (p.Tyr489Cys)	SMARCA4 (Y489C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233068	NM_003072.5(SMARCA4):c.143G>A (p.Gly48Glu)	SMARCA4 (G48E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233067	NM_003072.5(SMARCA4):c.1377G>A (p.Gln459=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233066	NM_003072.5(SMARCA4):c.1374G>A (p.Lys458=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233065	NM_003072.5(SMARCA4):c.1373A>G (p.Lys458Arg)	SMARCA4 (K458R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233064	NM_003072.5(SMARCA4):c.1141C>A (p.Arg381=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233063	NM_003072.5(SMARCA4):c.1071G>A (p.Lys357=)	SMARCA4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233062	NM_003072.5(SMARCA4):c.1040A>G (p.Gln347Arg)	SMARCA4 (Q347R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233061	NM_003072.5(SMARCA4):c.1012C>A (p.Gln338Lys)	SMARCA4 (Q338K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233060	NM_001048174.2(MUTYH):c.53G>A (p.Ser18Asn)	MUTYH (S18N +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233059	NM_001048174.2(MUTYH):c.837G>T (p.Arg279=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233058	NM_001048174.2(MUTYH):c.797G>T (p.Arg266Leu)	MUTYH (R151L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233057	NM_001048174.2(MUTYH):c.44A>C (p.Gln15Pro)	MUTYH (Q15P +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233056	NM_001048174.2(MUTYH):c.781G>C (p.Val261Leu)	MUTYH (V146L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233055	NM_001048174.2(MUTYH):c.741A>C (p.Pro247=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3233054	NM_001048174.2(MUTYH):c.740C>A (p.Pro247Gln)	MUTYH (P132Q +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233053	NM_001048174.2(MUTYH):c.734C>A (p.Ala245Asp)	MUTYH (A130D +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233052	NM_001048174.2(MUTYH):c.700C>T (p.Leu234Phe)	MUTYH (L119F +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233051	NM_001048174.2(MUTYH):c.678C>A (p.Ser226Arg)	MUTYH (S111R +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233050	NM_001048174.2(MUTYH):c.616G>C (p.Val206Leu)	MUTYH (V114L +12 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233049	NM_001048174.2(MUTYH):c.607-5G>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3233048	NM_001048174.2(MUTYH):c.516C>T (p.His172=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign

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