ClinVar for MedGen (Select 339504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021476	NM_001378969.1(KCND3):c.1518+17A>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2995416	NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)	KCND3 (S347L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2961879	NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)	KCND3 (E174Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2913516	NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)	KCND3 (S223L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2912211	NM_001378969.1(KCND3):c.159C>T (p.Thr53=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2912210	NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)	KCND3 (A247S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2895836	NM_001378969.1(KCND3):c.486G>A (p.Ser162=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2893319	NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2886877	NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)	KCND3 (G458S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2883678	NM_001378969.1(KCND3):c.186G>C (p.Pro62=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2882375	NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2846000	NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2839245	NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)	KCND3 (A603E +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2821990	NM_001378969.1(KCND3):c.663C>T (p.Arg221=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2809533	NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)	KCND3 (L229V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2793375	NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)	KCND3 (F73Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2788414	NM_001378969.1(KCND3):c.714C>A (p.Thr238=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2784413	NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2780305	NM_001378969.1(KCND3):c.1461+7C>A	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2778890	NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)	KCND3 (H481N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2757590	NM_001378969.1(KCND3):c.1372-17T>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2747257	NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)	KCND3 (I591T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2744181	NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)	KCND3 (T457A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2743276	NM_001378969.1(KCND3):c.1107-21_1107-20del	KCND3	Deletion (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2739800	NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2732659	NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2729842	NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2717049	NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2713786	NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2702794	NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)	KCND3 (M515T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2696925	NM_001378969.1(KCND3):c.1371+19T>G	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2693156	NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)	KCND3 (T469I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2671913	NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)	KCND3 (T600I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +1 more	GUncertain significance
Select item 2627944	NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)	KCND3	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 2627477	NM_001961.4(EEF2):c.884A>T (p.Asp295Val)	EEF2 (D295V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2627229	NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)	KCND3 (S283C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely pathogenic
Select item 2582302	NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)	KCND3 (T377A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely pathogenic
Select item 2561524	NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)	KCND3 (E522K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2441718	NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)	KCND3 (G380W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely pathogenic
Select item 2203185	NM_001378969.1(KCND3):c.84C>T (p.Pro28=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2202415	NM_001378969.1(KCND3):c.1519-17_1519-15del	KCND3	Deletion (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2200503	NM_001378969.1(KCND3):c.1371+4G>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2192556	NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)	KCND3 (N451H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2166589	NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)	KCND3 (R431P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2154940	NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2154891	NM_001378969.1(KCND3):c.1197C>T (p.Val399=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2154736	NM_001378969.1(KCND3):c.1767-17A>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2153762	NM_001378969.1(KCND3):c.1329C>T (p.His443=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2147966	NM_001378969.1(KCND3):c.1767-4C>G	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2127550	NM_001378969.1(KCND3):c.87G>A (p.Leu29=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2123180	NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)	KCND3 (E553V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2107255	NM_001378969.1(KCND3):c.1462-4G>A	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2107188	NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)	KCND3 (N451S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2101984	NM_001378969.1(KCND3):c.1372-6T>G	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2086326	NM_001378969.1(KCND3):c.1372-14T>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2046230	NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2045224	NM_001378969.1(KCND3):c.1434C>T (p.His478=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2044800	NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)	KCND3 (W170L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2037913	NM_001378969.1(KCND3):c.1106+11G>A	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2028410	NM_001378969.1(KCND3):c.1950C>A (p.Val650=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2027036	NM_001378969.1(KCND3):c.1270-20dup	KCND3	Duplication (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2009665	NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2008586	NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)	KCND3 (S585F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2004277	NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)	KCND3 (T189S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1980792	NM_001378969.1(KCND3):c.1106+15G>A	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GBenign
Select item 1976705	NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)	KCND3 (E462K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1976675	NM_001378969.1(KCND3):c.1461+9C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1941806	NM_001378969.1(KCND3):c.1518+12del	KCND3	Deletion (intron variant)	Spinocerebellar ataxia type 19/22	GBenign
Select item 1922665	NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1896104	NM_001378969.1(KCND3):c.1462-16G>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1782672	NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1782617	NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)	KCND3 (T640M +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 1782277	NM_001378969.1(KCND3):c.18G>A (p.Ala6=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1781584	NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1780634	NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1779184	NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1778850	NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1778229	NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)	KCND3 (R547C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 1777954	NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1777051	NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1775253	NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1774728	NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1771067	NM_001378969.1(KCND3):c.1372-4C>T	KCND3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1770457	NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)	KCND3 (L449F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1769492	NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1756248	NM_001378969.1(KCND3):c.693G>A (p.Thr231=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1748669	NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1699397	NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)	KCND3 (S304F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely pathogenic
Select item 1699176	NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)	KCND3 (R302P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely pathogenic
Select item 1669620	NM_001378969.1(KCND3):c.1519-10C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1662517	NM_001378969.1(KCND3):c.36C>T (p.Ala12=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1647285	NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1639520	NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1630175	NM_001378969.1(KCND3):c.1269+14G>A	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1619325	NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1617821	NM_001378969.1(KCND3):c.1462-13T>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1607695	NM_001378969.1(KCND3):c.1106+11G>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1607171	NM_001378969.1(KCND3):c.96C>T (p.Ala32=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1600295	NM_001378969.1(KCND3):c.1107-47915C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GBenign
Select item 1590836	NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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