ClinVar for Gene (Select 3737) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373394	NM_004974.4(KCNA2):c.321_335del (p.Asp107_Glu111del)	KCNA2	Deletion	not provided	GUncertain significance
Select item 3371235	NM_004974.4(KCNA2):c.1375A>T (p.Met459Leu)	KCNA2 (M459L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369187	NM_004974.4(KCNA2):c.1424A>C (p.Glu475Ala)	KCNA2 (E475A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361263	NM_004974.4(KCNA2):c.438G>C (p.Gln146His)	KCNA2 (Q146H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360239	NM_004974.4(KCNA2):c.1159G>C (p.Gly387Arg)	KCNA2 (G387R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360038	NM_004974.4(KCNA2):c.295A>G (p.Arg99Gly)	KCNA2 (R99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339611	NM_004974.4(KCNA2):c.*15C>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3287488	NM_004974.4(KCNA2):c.*1254G>T	KCNA2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256742	NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)	KCNA2 (I409L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely pathogenic
Select item 3250444	NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)	KCNA2 (D7V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 3242593	NM_004974.4(KCNA2):c.694T>C (p.Trp232Arg)	KCNA2 (W232R)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3239526	NM_004974.4(KCNA2):c.742G>T (p.Ala248Ser)	KCNA2 (A248S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234093	NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)	KCNA2 (C181Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 3068477	NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)	KCNA2 (T184I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 3067655	NM_004974.4(KCNA2):c.1070A>C (p.Gln357Pro)	KCNA2 (Q357P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3063244	GRCh37/hg19 1p13.3(chr1:111167391-111232936)x3	KCNA2, KCNA3	Copy number gain	not specified	GUncertain significance
Select item 3061873	NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)	KCNA2 (Y212*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 3054528	NM_004974.4(KCNA2):c.432G>A (p.Glu144=)	KCNA2	Single nucleotide variant (synonymous variant)	KCNA2-related disorder	GLikely benign
Select item 3050158	NM_004974.4(KCNA2):c.50G>A (p.Gly17Glu)	KCNA2 (G17E)	Single nucleotide variant (missense variant)	KCNA2-related disorder	GUncertain significance
Select item 3024946	NM_004974.4(KCNA2):c.440G>A (p.Arg147Lys)	KCNA2 (R147K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022490	NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)	KCNA2 (G249A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 3012442	NM_004974.4(KCNA2):c.982T>C (p.Leu328=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 3003141	NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 3003140	NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 3000030	NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)	KCNA2 (H310Y)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2989885	NM_004974.4(KCNA2):c.246C>T (p.Arg82=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2977024	NM_004974.4(KCNA2):c.747C>T (p.Gly249=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2969108	NM_004974.4(KCNA2):c.15C>T (p.Thr5=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2963353	NM_004974.4(KCNA2):c.1395A>G (p.Val465=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2919264	NM_004974.4(KCNA2):c.891G>C (p.Arg297=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2915131	NM_004974.4(KCNA2):c.340C>A (p.Arg114=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2906571	NM_004974.4(KCNA2):c.553T>C (p.Leu185=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2883087	NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)	KCNA2 (I263V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2880100	NM_004974.4(KCNA2):c.171C>T (p.Thr57=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2875754	NM_004974.4(KCNA2):c.231T>C (p.Phe77=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2866162	NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)	KCNA2 (L393Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2866109	NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)	KCNA2 (G119E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2864803	NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)	KCNA2 (A395G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2860609	NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)	KCNA2 (M171I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2859115	NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)	KCNA2 (D190V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2858654	NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)	KCNA2 (V299L)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2856259	NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)	KCNA2 (S217Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2849954	NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)	KCNA2 (P25L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2849151	NM_004974.4(KCNA2):c.945G>T (p.Gln315His)	KCNA2 (Q315H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2848836	NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)	KCNA2 (T204S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2848601	NM_004974.4(KCNA2):c.717G>A (p.Val239=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2847434	NM_004974.4(KCNA2):c.918G>A (p.Lys306=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2839187	NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)	KCNA2 (A13V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2830925	NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)	KCNA2 (R294C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2825567	NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)	KCNA2 (L307V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2825062	NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)	KCNA2 (T373K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2822519	NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)	KCNA2 (V339F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 2819318	NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)	KCNA2 (K437N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2816567	NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)	KCNA2 (Q426*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2813219	NM_004974.4(KCNA2):c.235G>C (p.Asp79His)	KCNA2 (D79H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2813167	NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)	KCNA2 (I231T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2812593	NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)	KCNA2 (R473G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2808602	NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)	KCNA2 (R240fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2795398	NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)	KCNA2 (A52V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2787873	NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)	KCNA2 (V225I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2787600	NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)	KCNA2 (I164V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2786748	NM_004974.4(KCNA2):c.960C>G (p.Thr320=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2786172	NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)	KCNA2 (E124D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2783884	NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)	KCNA2 (E56Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2783081	NM_004974.4(KCNA2):c.687C>T (p.Cys229=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2771809	NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)	KCNA2 (D24A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2760896	NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2760866	NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)	KCNA2 (I165K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2757952	NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)	KCNA2 (G398D)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GPathogenic
Select item 2756398	NM_004974.4(KCNA2):c.384A>G (p.Glu128=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2755150	NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)	KCNA2 (V346M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2751466	NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)	KCNA2 (R163K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2749667	NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)	KCNA2 (L330F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely pathogenic
Select item 2749658	NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)	KCNA2 (L58F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2749552	NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)	KCNA2 (P8Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2749367	NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)	KCNA2 (L404S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2748423	NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)	KCNA2 (V410M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2747038	NM_004974.4(KCNA2):c.86A>C (p.His29Pro)	KCNA2 (H29P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2743101	NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)	KCNA2 (P405S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2742476	NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)	KCNA2 (R127Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2733150	NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)	KCNA2 (G119A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2724433	NM_004974.4(KCNA2):c.1254C>T (p.His418=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2723797	NM_004974.4(KCNA2):c.653dup (p.Thr219fs)	KCNA2 (T219fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2723374	NM_004974.4(KCNA2):c.53A>G (p.His18Arg)	KCNA2 (H18R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2716387	NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2709350	NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)	KCNA2	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2703908	NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)	KCNA2 (A403S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2698376	NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)	KCNA2 (T219K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GUncertain significance
Select item 2697704	NM_004974.4(KCNA2):c.216C>T (p.Leu72=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2695181	NM_004974.4(KCNA2):c.468A>T (p.Pro156=)	KCNA2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 32	GLikely benign
Select item 2692512	NM_004974.4(KCNA2):c.480del (p.Pro161fs)	KCNA2 (P161fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2664659	NM_004974.4(KCNA2):c.*1150del	KCNA2 (G311fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2662155	NM_004974.4(KCNA2):c.589G>T (p.Gly197Cys)	KCNA2 (G197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638991	NM_004974.4(KCNA2):c.345T>C (p.Phe115=)	KCNA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638990	NM_004974.4(KCNA2):c.512T>C (p.Met171Thr)	KCNA2 (M171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638989	NM_004974.4(KCNA2):c.620A>G (p.Asn207Ser)	KCNA2 (N207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638988	NM_004974.4(KCNA2):c.*1228G>C	KCNA2 (R337T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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