Related gene-specific medical variations for Gene (Select 3748) - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363230	NM_004977.3(KCNC3):c.800C>G (p.Thr267Arg)	KCNC3, LOC130064972 (T191R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337197	NM_004977.3(KCNC3):c.812G>A (p.Arg271His)	KCNC3, LOC130064972 (R195H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287526	NM_004977.3(KCNC3):c.32G>A (p.Arg11His)	KCNC3, LOC111811967 (R11H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3234477	NM_004977.3(KCNC3):c.779G>T (p.Gly260Val)	KCNC3, LOC130064972 (G184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990124	NM_004977.3(KCNC3):c.98C>A (p.Pro33Gln)	KCNC3, LOC111811967 (P33Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2976479	NM_004977.3(KCNC3):c.3G>A (p.Met1Ile)	KCNC3, LOC111811967 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966452	NM_004977.3(KCNC3):c.768G>T (p.Gly256=)	KCNC3, LOC130064972	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960937	NM_004977.3(KCNC3):c.56A>G (p.Gln19Arg)	KCNC3, LOC111811967 (Q19R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2903203	NM_004977.3(KCNC3):c.116A>C (p.Gln39Pro)	KCNC3, LOC111811967 (Q39P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2902127	NM_004977.3(KCNC3):c.74C>T (p.Pro25Leu)	KCNC3, LOC111811967 (P25L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2899780	NM_004977.3(KCNC3):c.23C>T (p.Ser8Leu)	KCNC3, LOC111811967 (S8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2689284	NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)	KCNC3 (G559R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 2689283	NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)	KCNC3 (L596V +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 2684251	NM_004977.3(KCNC3):c.1795C>G (p.Pro599Ala)	KCNC3 (P523A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684249	NM_004977.3(KCNC3):c.1609G>A (p.Val537Ile)	KCNC3 (V461I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684248	NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)	KCNC3 (I416V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13 +1 more	GUncertain significance
Select item 2569352	NM_004977.3(KCNC3):c.142C>T (p.Pro48Ser)	KCNC3, LOC111811967 (P48S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569351	NM_004977.3(KCNC3):c.110C>A (p.Pro37Gln)	KCNC3, LOC111811967 (P37Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534192	NM_004977.3(KCNC3):c.761C>T (p.Ala254Val)	KCNC3, LOC130064972 (A178V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506707	NM_004977.3(KCNC3):c.814T>A (p.Trp272Arg)	KCNC3, LOC130064972 (W196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485994	NM_004977.3(KCNC3):c.26C>T (p.Ser9Phe)	KCNC3, LOC111811967 (S9F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444559	NM_004977.3(KCNC3):c.46dup (p.Ala16fs)	KCNC3, LOC111811967 (A16fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2432994	NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)	KCNC3 (G467S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 2432993	NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)	KCNC3 (P639S +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 2432992	NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)	KCNC3, LOC111811967 (P33R)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 2430859	NM_004977.3(KCNC3):c.118C>T (p.Gln40Ter)	KCNC3, LOC111811967 (Q40*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2336313	NM_004977.3(KCNC3):c.80C>G (p.Pro27Arg)	KCNC3, LOC111811967 (P27R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291995	NM_004977.3(KCNC3):c.145G>A (p.Ala49Thr)	KCNC3, LOC111811967 (A49T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2005027	NM_004977.3(KCNC3):c.48C>G (p.Ala16=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1994742	NM_004977.3(KCNC3):c.758_790del (p.Gly253_Gly263del)	KCNC3, LOC130064972	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1958842	NM_004977.3(KCNC3):c.109C>T (p.Pro37Ser)	KCNC3, LOC111811967 (P37S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1950074	NM_004977.3(KCNC3):c.24G>A (p.Ser8=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1806881	NM_004977.3(KCNC3):c.1354A>G (p.Ile452Val)	KCNC3 (I376V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806878	NM_004977.3(KCNC3):c.1198G>T (p.Gly400Cys)	KCNC3 (G324C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801886	NM_004977.3(KCNC3):c.40C>T (p.Gln14Ter)	KCNC3, LOC111811967 (Q14*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1697993	NM_004977.3(KCNC3):c.-94G>T	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1679719	NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser)	KCNC3 (G175S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1594578	NM_004977.3(KCNC3):c.81G>A (p.Pro27=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1541240	NM_004977.3(KCNC3):c.762C>T (p.Ala254=)	KCNC3, LOC130064972	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529387	NM_004977.3(KCNC3):c.102A>C (p.Pro34=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1520362	NM_004977.3(KCNC3):c.116AGC[6] (p.Gln41_Gln42dup)	KCNC3, LOC111811967	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1509315	NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])	KCNC3, LOC130064972	Microsatellite (inframe_insertion)	Spinocerebellar ataxia type 13 +1 more	GConflicting classifications of pathogenicity
Select item 1478945	NM_004977.3(KCNC3):c.781GCGGGCGGC[1] (p.261AGG[1])	KCNC3, LOC130064972	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1429606	NM_004977.3(KCNC3):c.16T>A (p.Cys6Ser)	KCNC3, LOC111811967 (C6S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1422754	NM_004977.3(KCNC3):c.804G>T (p.Trp268Cys)	KCNC3, LOC130064972 (W192C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1417270	NM_004977.3(KCNC3):c.758G>A (p.Gly253Asp)	KCNC3, LOC130064972 (G177D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1404148	NM_004977.3(KCNC3):c.130G>T (p.Ala44Ser)	KCNC3, LOC111811967 (A44S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1389489	NM_004977.3(KCNC3):c.34G>T (p.Gly12Trp)	KCNC3, LOC111811967 (G12W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1383727	NM_004977.3(KCNC3):c.2T>C (p.Met1Thr)	KCNC3, LOC111811967 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335361	NM_004977.3(KCNC3):c.24G>T (p.Ser8=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1298308	NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp)	KCNC3 (G550W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1298307	NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro)	KCNC3 (L301P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1256136	NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1256135	NM_004977.3(KCNC3):c.1878G>A (p.Gly626=)	KCNC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1256134	NM_004977.3(KCNC3):c.1794A>G (p.Pro598=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256132	NM_004977.3(KCNC3):c.1098C>A (p.Arg366=)	KCNC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1256130	NM_004977.3(KCNC3):c.1041C>G (p.Phe347Leu)	KCNC3 (F271L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176393	NM_004977.3(KCNC3):c.-3C>G	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1029909	NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp)	KCNC3, LOC111811967 (G47D)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1003130	NM_004977.3(KCNC3):c.101_115del (p.Pro34_Pro38del)	KCNC3, LOC111811967	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 995166	NM_004977.3(KCNC3):c.2130C>T (p.Leu710=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808628	NM_004977.3(KCNC3):c.2113C>T (p.Arg705Ter)	KCNC3 (R629* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 799740	NM_004977.3(KCNC3):c.834G>A (p.Ala278=)	KCNC3, LOC130064972	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 798049	NM_004977.3(KCNC3):c.795C>T (p.Gly265=)	KCNC3, LOC130064972	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718964	NM_004977.3(KCNC3):c.71C>T (p.Pro24Leu)	KCNC3, LOC111811967 (P24L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 709304	NM_004977.3(KCNC3):c.18C>T (p.Cys6=)	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 522615	NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)	KCNC3, LOC111811967 (S4fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 13	GPathogenic
Select item 521572	NM_004977.3(KCNC3):c.769C>A (p.Pro257Thr)	KCNC3, LOC130064972 (P257T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 488936	NM_004977.3(KCNC3):c.11C>G (p.Ser4Ter)	KCNC3, LOC111811967 (S4*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 447623	NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)	KCNC3, LOC111811967 (S8W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 447619	NM_004977.3(KCNC3):c.127C>T (p.Pro43Ser)	LOC111811967, KCNC3 (P43S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 374785	NM_004977.3(KCNC3):c.46G>A (p.Ala16Thr)	KCNC3, LOC111811967 (A16T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 284725	NM_004977.3(KCNC3):c.123G>T (p.Gln41His)	KCNC3, LOC111811967 (Q41H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign

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Items: 73