ClinVar for Gene (Select 10592) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320886	NM_006444.3(SMC2):c.955C>T (p.Leu319Phe)	SMC2 (L319F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320885	NM_006444.3(SMC2):c.3334C>T (p.Leu1112Phe)	SMC2 (L1112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320884	NM_006444.3(SMC2):c.730G>T (p.Asp244Tyr)	SMC2 (D244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320882	NM_006444.3(SMC2):c.1796G>T (p.Gly599Val)	SMC2 (G599V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320881	NM_006444.3(SMC2):c.1795G>T (p.Gly599Cys)	SMC2 (G599C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166375	NM_006444.3(SMC2):c.743G>A (p.Arg248His)	SMC2 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166374	NM_006444.3(SMC2):c.727G>A (p.Glu243Lys)	SMC2 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166372	NM_006444.3(SMC2):c.495A>G (p.Ile165Met)	SMC2 (I165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166371	NM_006444.3(SMC2):c.3157A>G (p.Asn1053Asp)	SMC2 (N1053D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166370	NM_006444.3(SMC2):c.2813A>G (p.Tyr938Cys)	SMC2 (Y938C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166368	NM_006444.3(SMC2):c.2512C>A (p.Gln838Lys)	SMC2 (Q838K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166367	NM_006444.3(SMC2):c.2138G>A (p.Arg713His)	SMC2 (R713H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166366	NM_006444.3(SMC2):c.2122A>G (p.Thr708Ala)	SMC2 (T708A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166364	NM_006444.3(SMC2):c.2110G>A (p.Gly704Ser)	SMC2 (G704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166363	NM_006444.3(SMC2):c.2087G>A (p.Arg696Gln)	SMC2 (R696Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166361	NM_006444.3(SMC2):c.1215T>G (p.Cys405Trp)	SMC2 (C405W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166360	NM_006444.3(SMC2):c.1205T>C (p.Met402Thr)	SMC2 (M402T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659354	NM_006444.3(SMC2):c.2600C>T (p.Ser867Leu)	SMC2 (S867L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621938	NM_006444.3(SMC2):c.1607C>A (p.Ser536Tyr)	SMC2 (S536Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618185	NM_006444.3(SMC2):c.1282C>A (p.Gln428Lys)	SMC2 (Q428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616398	NM_006444.3(SMC2):c.803C>T (p.Ser268Phe)	SMC2 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615740	NM_006444.3(SMC2):c.1705C>G (p.Leu569Val)	SMC2 (L569V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615538	NM_006444.3(SMC2):c.1445G>A (p.Arg482His)	SMC2 (R482H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607193	NM_006444.3(SMC2):c.946G>T (p.Ala316Ser)	SMC2 (A316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594208	NM_006444.3(SMC2):c.638A>G (p.Glu213Gly)	SMC2 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 2557975	NM_006444.3(SMC2):c.2680G>A (p.Ala894Thr)	SMC2 (A894T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553722	NM_006444.3(SMC2):c.1948G>A (p.Val650Ile)	SMC2 (V650I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553550	NM_006444.3(SMC2):c.2240C>T (p.Ala747Val)	SMC2 (A747V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550245	NM_006444.3(SMC2):c.2695C>A (p.His899Asn)	SMC2 (H899N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537401	NM_006444.3(SMC2):c.1409A>T (p.Tyr470Phe)	SMC2 (Y470F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531603	NM_006444.3(SMC2):c.2633A>G (p.Gln878Arg)	SMC2 (Q878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524540	NM_006444.3(SMC2):c.694C>T (p.Arg232Cys)	SMC2 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520998	NM_006444.3(SMC2):c.2764C>T (p.Arg922Trp)	SMC2 (R922W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518094	NM_006444.3(SMC2):c.946G>A (p.Ala316Thr)	SMC2 (A316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516374	NM_006444.3(SMC2):c.1109C>T (p.Ala370Val)	SMC2 (A370V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514009	NM_006444.3(SMC2):c.1321G>A (p.Asp441Asn)	SMC2 (D441N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512958	NM_006444.3(SMC2):c.1520G>A (p.Arg507Gln)	SMC2 (R507Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491504	NM_006444.3(SMC2):c.1723A>G (p.Ile575Val)	SMC2 (I575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483273	NM_006444.3(SMC2):c.720G>T (p.Leu240Phe)	SMC2 (L240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482131	NM_006444.3(SMC2):c.293A>C (p.His98Pro)	SMC2 (H98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482025	NM_006444.3(SMC2):c.644C>G (p.Ser215Trp)	SMC2 (S215W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481817	NM_006444.3(SMC2):c.1807G>C (p.Val603Leu)	SMC2 (V603L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478938	NM_006444.3(SMC2):c.2444A>C (p.Lys815Thr)	SMC2 (K815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469333	NM_006444.3(SMC2):c.706G>T (p.Ala236Ser)	SMC2 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465649	NM_006444.3(SMC2):c.3163A>G (p.Met1055Val)	SMC2 (M1055V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463717	NM_006444.3(SMC2):c.3151G>A (p.Gly1051Ser)	SMC2 (G1051S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463714	NM_006444.3(SMC2):c.2510A>G (p.Lys837Arg)	SMC2 (K837R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454785	NM_006444.3(SMC2):c.2701G>A (p.Glu901Lys)	SMC2 (E901K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409302	NM_006444.3(SMC2):c.3005T>A (p.Met1002Lys)	SMC2 (M1002K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409284	NM_006444.3(SMC2):c.1492G>A (p.Ala498Thr)	SMC2 (A498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409013	NM_006444.3(SMC2):c.2045A>G (p.Lys682Arg)	SMC2 (K682R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391332	NM_006444.3(SMC2):c.1271A>G (p.Lys424Arg)	SMC2 (K424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383745	NM_006444.3(SMC2):c.590C>T (p.Thr197Met)	SMC2 (T197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382860	NM_006444.3(SMC2):c.2488A>G (p.Lys830Glu)	SMC2 (K830E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380090	NM_006444.3(SMC2):c.2366G>A (p.Arg789Gln)	SMC2 (R789Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370916	NM_006444.3(SMC2):c.2742C>A (p.Asp914Glu)	SMC2 (D914E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360606	NM_006444.3(SMC2):c.1153G>T (p.Ala385Ser)	SMC2 (A385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356003	NM_006444.3(SMC2):c.2225A>G (p.Gln742Arg)	SMC2 (Q742R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353353	NM_006444.3(SMC2):c.535A>G (p.Ile179Val)	SMC2 (I179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339514	NM_006444.3(SMC2):c.3172C>T (p.Pro1058Ser)	SMC2 (P1058S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331079	NM_006444.3(SMC2):c.1752A>C (p.Arg584Ser)	SMC2 (R584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330986	NM_006444.3(SMC2):c.1622T>C (p.Leu541Ser)	SMC2 (L541S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307438	NM_006444.3(SMC2):c.2549A>G (p.Tyr850Cys)	SMC2 (Y850C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298448	NM_006444.3(SMC2):c.874A>C (p.Thr292Pro)	SMC2 (T292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295216	NM_006444.3(SMC2):c.83A>G (p.Asn28Ser)	SMC2 (N28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286850	NM_006444.3(SMC2):c.3175C>T (p.Pro1059Ser)	SMC2 (P1059S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283386	NM_006444.3(SMC2):c.3227A>G (p.Asn1076Ser)	SMC2 (N1076S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271719	NM_006444.3(SMC2):c.2809G>C (p.Asp937His)	SMC2 (D937H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262224	NM_006444.3(SMC2):c.3085G>T (p.Ala1029Ser)	SMC2 (A1029S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254292	NM_006444.3(SMC2):c.2407A>C (p.Thr803Pro)	SMC2 (T803P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252888	NM_006444.3(SMC2):c.50G>A (p.Arg17Lys)	SMC2 (R17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242966	NM_006444.3(SMC2):c.1726A>G (p.Ile576Val)	SMC2 (I576V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240794	NM_006444.3(SMC2):c.1199G>T (p.Gly400Val)	SMC2 (G400V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807983	GRCh37/hg19 9q31.1(chr9:106173402-107431515)x1	OR13C2, OR13C3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 1015975	NM_006444.3(SMC2):c.889C>T (p.Arg297Ter)	SMC2 (R297*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 996642	NM_006444.3(SMC2):c.2763A>C (p.Lys921Asn)	SMC2 (K921N)	Single nucleotide variant (missense variant)	Wiedemann-Rautenstrauch-like progeroid syndrome	GUncertain significance
Select item 979863	GRCh37/hg19 9q31.1(chr9:106846395-106986277)x1	SMC2	Copy number loss	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 815275	GRCh37/hg19 9q31.1(chr9:106805217-106860845)x1	SMC2	Copy number loss	not provided	GUncertain significance
Select item 790619	NM_006444.3(SMC2):c.973G>A (p.Ala325Thr)	SMC2 (A325T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787706	NM_006444.3(SMC2):c.1107T>C (p.Asp369=)	SMC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787626	NM_006444.3(SMC2):c.371A>C (p.Asn124Thr)	SMC2 (N124T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778437	NM_006444.3(SMC2):c.3212A>G (p.Lys1071Arg)	SMC2 (K1071R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770389	NM_006444.3(SMC2):c.1855G>T (p.Ala619Ser)	SMC2 (A619S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739502	NM_006444.3(SMC2):c.829C>T (p.Leu277Phe)	SMC2 (L277F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688209	GRCh37/hg19 9q31.1(chr9:106618735-107897515)x3	ABCA1, NIPSNAP3A +10 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic

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