KCNC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 1226407	NM_001112741.2(KCNC1):c.-133C>A	KCNC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 931566	NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu)	KCNC1 (G4E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 806628	NM_001112741.2(KCNC1):c.15C>T (p.Asp5=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1478478	NM_001112741.2(KCNC1):c.16G>C (p.Glu6Gln)	KCNC1 (E6Q)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1298508	NM_001112741.2(KCNC1):c.22G>T (p.Glu8Ter)	KCNC1 (E8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2815887	NM_001112741.2(KCNC1):c.30C>T (p.Ile10=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1551756	NM_001112741.2(KCNC1):c.36C>A (p.Ile12=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 3372102	NM_001112741.2(KCNC1):c.43G>A (p.Gly15Ser)	KCNC1 (G15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542115	NM_001112741.2(KCNC1):c.51G>A (p.Thr17=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 755835	NM_001112741.2(KCNC1):c.60G>A (p.Gln20=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 938579	NM_001112741.2(KCNC1):c.68G>A (p.Arg23His)	KCNC1 (R23H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2177429	NM_001112741.2(KCNC1):c.71C>G (p.Ser24Trp)	KCNC1 (S24W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 447617	NM_001112741.2(KCNC1):c.72G>A (p.Ser24=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2767380	NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)	KCNC1 (T25I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1603280	NM_001112741.2(KCNC1):c.78G>C (p.Leu26=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2717658	NM_001112741.2(KCNC1):c.84G>A (p.Thr28=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 953472	NM_001112741.2(KCNC1):c.90C>A (p.Pro30=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1407389	NM_001112741.2(KCNC1):c.91G>A (p.Gly31Ser)	KCNC1 (G31S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1308752	NM_001112741.2(KCNC1):c.91G>C (p.Gly31Arg)	KCNC1 (G31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542118	NM_001112741.2(KCNC1):c.96G>A (p.Thr32=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2798397	NM_001112741.2(KCNC1):c.102C>T (p.Leu34=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 759457	NM_001112741.2(KCNC1):c.102C>A (p.Leu34=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2706586	NM_001112741.2(KCNC1):c.105C>G (p.Ala35=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 658535	NM_001112741.2(KCNC1):c.108del (p.Trp36fs)	KCNC1 (W36fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy type 7	GLikely pathogenic
Select item 936320	NM_001112741.2(KCNC1):c.114G>A (p.Ala38=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 755615	NM_001112741.2(KCNC1):c.120C>G (p.Pro40=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 567485	NM_001112741.2(KCNC1):c.121G>A (p.Asp41Asn)	KCNC1 (D41N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2957650	NM_001112741.2(KCNC1):c.130A>G (p.Ser44Gly)	KCNC1 (S44G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 653011	NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn)	KCNC1 (S44N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 864788	NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr)	KCNC1 (H45Y)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2094356	NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)	KCNC1 (H45R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 928891	NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)	KCNC1 (F46L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1103230	NM_001112741.2(KCNC1):c.147C>T (p.Asp49=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1036073	NM_001112741.2(KCNC1):c.148C>T (p.Pro50Ser)	KCNC1 (P50S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2156460	NM_001112741.2(KCNC1):c.150G>C (p.Pro50=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1354922	NM_001112741.2(KCNC1):c.159C>A (p.Asp53Glu)	KCNC1 (D53E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1311535	NM_001112741.2(KCNC1):c.163TTC[2] (p.Phe57del)	KCNC1 (F57del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1302178	NM_001112741.2(KCNC1):c.176G>A (p.Arg59His)	KCNC1 (R59H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 1571441	NM_001112741.2(KCNC1):c.183C>T (p.Pro61=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1669875	NM_001112741.2(KCNC1):c.202C>T (p.Leu68=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 3371841	NM_001112741.2(KCNC1):c.207C>G (p.Asn69Lys)	KCNC1 (N69K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031095	NM_001112741.2(KCNC1):c.215G>T (p.Arg72Leu)	KCNC1 (R72L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2902848	NM_001112741.2(KCNC1):c.219G>T (p.Thr73=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 589237	NM_001112741.2(KCNC1):c.219G>C (p.Thr73=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 582490	NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu)	KCNC1 (K75E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 1077952	NM_001112741.2(KCNC1):c.228G>A (p.Leu76=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2913281	NM_001112741.2(KCNC1):c.237A>C (p.Pro79=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 589819	NM_001112741.2(KCNC1):c.240C>A (p.Ala80=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1087985	NM_001112741.2(KCNC1):c.246G>T (p.Val82=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1643719	NM_001112741.2(KCNC1):c.249C>T (p.Cys83=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1123233	NM_001112741.2(KCNC1):c.255G>A (p.Pro85=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2897069	NM_001112741.2(KCNC1):c.256C>T (p.Leu86Phe)	KCNC1 (L86F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1021943	NM_001112741.2(KCNC1):c.258C>G (p.Leu86=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1605945	NM_001112741.2(KCNC1):c.261C>T (p.Tyr87=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 3343021	NM_001112741.2(KCNC1):c.278T>C (p.Phe93Ser)	KCNC1 (F93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982618	NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys)	KCNC1 (W94C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2764295	NM_001112741.2(KCNC1):c.285C>T (p.Gly95=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1718081	NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)	KCNC1 (M107T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1131581	NM_001112741.2(KCNC1):c.324G>A (p.Thr108=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 764516	NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1706244	NM_001112741.2(KCNC1):c.332A>G (p.Gln111Arg)	KCNC1 (Q111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050049	NM_001112741.2(KCNC1):c.333G>A (p.Gln111=)	KCNC1	Single nucleotide variant (synonymous variant)	KCNC1-related disorder	GLikely benign
Select item 2082271	NM_001112741.2(KCNC1):c.345C>G (p.Ala115=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2038223	NM_001112741.2(KCNC1):c.345C>T (p.Ala115=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2786030	NM_001112741.2(KCNC1):c.355C>T (p.Leu119=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 3375608	NM_001112741.2(KCNC1):c.367G>A (p.Gly123Ser)	KCNC1 (G123S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892451	NM_001112741.2(KCNC1):c.391G>A (p.Ala131Thr)	KCNC1 (A131T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1024248	NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp)	KCNC1 (A131D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1547014	NM_001112741.2(KCNC1):c.393C>T (p.Ala131=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 570244	NM_001112741.2(KCNC1):c.394G>A (p.Asp132Asn)	KCNC1 (D132N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2851188	NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)	KCNC1	Deletion (inframe_deletion)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1983355	NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)	KCNC1 (A134V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 748019	NM_001112741.2(KCNC1):c.402G>A (p.Ala134=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1590241	NM_001112741.2(KCNC1):c.408C>T (p.Ala136=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 847604	NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn)	KCNC1 (D137N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1122434	NM_001112741.2(KCNC1):c.420C>A (p.Gly140=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 661955	NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr)	KCNC1 (D141Y)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 1909050	NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)	KCNC1 (D141E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1014282	NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp)	KCNC1 (G143D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2888225	NM_001112741.2(KCNC1):c.432C>T (p.Asp144=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 475354	NM_001112741.2(KCNC1):c.433G>C (p.Gly145Arg)	KCNC1 (G145R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 760596	NM_001112741.2(KCNC1):c.435C>A (p.Gly145=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 571818	NM_001112741.2(KCNC1):c.435C>T (p.Gly145=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2078737	NM_001112741.2(KCNC1):c.439G>A (p.Asp147Asn)	KCNC1 (D147N)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 852716	NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu)	KCNC1 (D147E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1310491	NM_001112741.2(KCNC1):c.442G>A (p.Glu148Lys)	KCNC1 (E148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154223	NM_001112741.2(KCNC1):c.459G>A (p.Lys153=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 742639	NM_001112741.2(KCNC1):c.465G>T (p.Leu155=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 3016005	NM_001112741.2(KCNC1):c.468G>A (p.Ala156=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2083862	NM_001112741.2(KCNC1):c.468G>C (p.Ala156=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1083465	NM_001112741.2(KCNC1):c.468G>T (p.Ala156=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2125540	NM_001112741.2(KCNC1):c.479C>T (p.Ser160Phe)	KCNC1 (S160F)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1997550	NM_001112741.2(KCNC1):c.483G>C (p.Pro161=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 2987166	NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)	KCNC1 (D162E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 930835	NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu)	KCNC1 (D162E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1397173	NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser)	KCNC1 (G163S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1009750	NM_001112741.2(KCNC1):c.489C>T (p.Gly163=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign
Select item 1320194	NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)	KCNC1 (R164W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GLikely pathogenic
Select item 757079	NM_001112741.2(KCNC1):c.492G>C (p.Arg164=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7	GLikely benign

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