ClinVar for Gene (Select 3762) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3030993	NM_000890.5(KCNJ5):c.182A>G (p.Asn61Ser)	KCNJ5 (N61S)	Single nucleotide variant (missense variant)	KCNJ5-related condition	GUncertain significance
Select item 2997222	NM_000890.5(KCNJ5):c.361G>A (p.Val121Ile)	KCNJ5 (V121I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2996580	NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2995808	NM_000890.5(KCNJ5):c.1185T>G (p.Asp395Glu)	KCNJ5 (D395E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2987454	NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2963874	NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2959119	NM_000890.5(KCNJ5):c.466G>A (p.Val156Ile)	KCNJ5 (V156I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2920107	NM_000890.5(KCNJ5):c.925G>A (p.Val309Met)	KCNJ5 (V309M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2915665	NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)	KCNJ5 (G411R)	Single nucleotide variant (missense variant)	Long QT syndrome	GBenign
Select item 2908112	NM_000890.5(KCNJ5):c.50T>A (p.Val17Asp)	KCNJ5 (V17D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2902279	NM_000890.5(KCNJ5):c.409G>A (p.Val137Met)	KCNJ5 (V137M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2896444	NM_000890.5(KCNJ5):c.938-20T>C	KCNJ5	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2895995	NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr)	KCNJ5 (I234T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2891522	NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys)	KCNJ5 (R225C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2870970	NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2858527	NM_000890.5(KCNJ5):c.813G>T (p.Val271=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2856410	NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)	KCNJ5 (R220Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2844346	NM_000890.5(KCNJ5):c.937G>A (p.Gly313Ser)	KCNJ5 (G313S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2818476	NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2818460	NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs)	KCNJ5 (E246fs)	Microsatellite (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2816773	NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser)	KCNJ5 (F286S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2797296	NM_000890.5(KCNJ5):c.411G>A (p.Val137=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2782991	NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser)	KCNJ5 (I150S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2747052	NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser)	KCNJ5 (G388S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2744979	NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu)	KCNJ5 (P383L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2742752	NM_000890.5(KCNJ5):c.830C>T (p.Ser277Phe)	KCNJ5 (S277F)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2738387	NM_000890.5(KCNJ5):c.1151del (p.Pro384fs)	KCNJ5 (P384fs)	Deletion (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2734698	NM_000890.5(KCNJ5):c.519C>G (p.Ile173Met)	KCNJ5 (I173M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2719555	NM_000890.5(KCNJ5):c.1180C>A (p.Leu394Met)	KCNJ5 (L394M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2715873	NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser)	KCNJ5 (P251S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2711843	NM_000890.5(KCNJ5):c.328C>T (p.Leu110Phe)	KCNJ5 (L110F)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2704108	NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2684659	GRCh37/hg19 11q24.3(chr11:128577471-128867773)x3	ARHGAP32, FLI1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2683174	NM_000890.5(KCNJ5):c.1145G>T (p.Ser382Ile)	KCNJ5 (S382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2625903	NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp)	KCNJ5 (G122D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625902	NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala)	KCNJ5 (E356A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625901	NM_000890.5(KCNJ5):c.900A>G (p.Glu300=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2624479	NM_000890.5(KCNJ5):c.771C>T (p.Ile257=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2576148	NM_000890.5(KCNJ5):c.303G>T (p.Trp101Cys)	KCNJ5 (W101C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575556	NM_000890.5(KCNJ5):c.646T>C (p.Cys216Arg)	KCNJ5 (C216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2563929	NM_000890.5(KCNJ5):c.240C>G (p.Thr80=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2563928	NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu)	KCNJ5 (R211L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2497225	NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)	KCNJ5 (M289I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2497224	NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter)	KCNJ5 (Q317*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 2449985	NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)	KCNJ5 (T100N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2449081	NM_000890.5(KCNJ5):c.558G>A (p.Met186Ile)	KCNJ5 (M186I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449080	NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln)	KCNJ5 (E366Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449079	NM_000890.5(KCNJ5):c.1218C>T (p.Pro406=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449077	NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del)	KCNJ5 (E403del)	Microsatellite (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2449076	NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn)	KCNJ5 (T146N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449075	NM_000890.5(KCNJ5):c.631C>A (p.Arg211=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2449074	NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr)	KCNJ5 (C185Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2449073	NM_000890.5(KCNJ5):c.87C>T (p.Ala29=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2433002	NM_000890.5(KCNJ5):c.978_979insC (p.Val327fs)	KCNJ5 (V327fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2424345	NC_000011.9:g.(?_128564154)_(128786626_?)del	FLI1, KCNJ1 +2 more	Deletion	not provided	GUncertain significance
Select item 2421604	NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp)	KCNJ5 (R115W)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2418724	NM_000890.5(KCNJ5):c.144G>A (p.Lys48=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GBenign
Select item 2416989	NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala)	KCNJ5 (T149A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2415921	NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)	KCNJ5 (Y32*)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely benign
Select item 2238356	NM_000890.5(KCNJ5):c.55C>T (p.Pro19Ser)	KCNJ5 (P19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202479	NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2170162	NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser)	KCNJ5 (C185S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2163554	NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)	KCNJ5 (D266N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2145319	NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser)	KCNJ5 (G65S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2142750	NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2140854	NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg)	KCNJ5 (Q378R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2127134	NM_000890.5(KCNJ5):c.829T>G (p.Ser277Ala)	KCNJ5 (S277A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2116801	NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His)	KCNJ5 (Y344H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2116700	NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2108551	NM_000890.5(KCNJ5):c.1151dup (p.Leu385fs)	KCNJ5 (L385fs)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2100655	NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2091632	NM_000890.5(KCNJ5):c.352C>A (p.Leu118Met)	KCNJ5 (L118M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2084462	NM_000890.5(KCNJ5):c.834_835inv (p.Glu279Lys)	KCNJ5 (E279K)	Inversion (missense variant)	Long QT syndrome	GUncertain significance
Select item 2072549	NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2047120	NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu)	KCNJ5 (M210L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2029885	NM_000890.5(KCNJ5):c.246G>A (p.Val82=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1994096	NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1992566	NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn)	KCNJ5 (D212N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1984111	NM_000890.5(KCNJ5):c.313G>A (p.Gly105Ser)	KCNJ5 (G105S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1942729	NM_000890.5(KCNJ5):c.61G>C (p.Asp21His)	KCNJ5 (D21H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1809097	GRCh37/hg19 11q24.3(chr11:128683208-128897053)x3	ARHGAP32, KCNJ1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1808438	GRCh37/hg19 11q24.3(chr11:128683018-128897053)x3	ARHGAP32, FLI1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807866	GRCh37/hg19 11q24.3(chr11:128682955-128897053)x3	ARHGAP32, FLI1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1801934	NM_000890.5(KCNJ5):c.670C>G (p.Leu224Val)	KCNJ5 (L224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1798377	NM_000890.5(KCNJ5):c.297C>T (p.Val99=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1796691	NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu)	KCNJ5 (M95L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1794740	NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile)	KCNJ5 (T37I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1791292	NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)	KCNJ5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1782286	NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)	KCNJ5 (R6S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1778953	NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser)	KCNJ5 (G58S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775707	NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys)	KCNJ5 (N349K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1768728	NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)	KCNJ5 (R332Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766721	NM_000890.5(KCNJ5):c.937+4del	KCNJ5	Deletion (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1765628	NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala)	KCNJ5 (V302A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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