12335[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 148260	GRCh38/hg38 4q27(chr4:121164018-122098913)x1	ANXA5, BBS7 +26 more	Copy number loss	See cases	GUncertain significance
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	LOC126807144, LOC126807145 +22 more	Copy number gain	See cases	GUncertain significance
Select item 2892441	NM_001130698.2(TRPC3):c.2744C>T (p.Pro915Leu)	TRPC3 (P915L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044150	NM_001130698.2(TRPC3):c.2735A>C (p.Lys912Thr)	TRPC3 (K912T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2462609	NM_001130698.2(TRPC3):c.2701G>A (p.Glu901Lys)	TRPC3 (E901K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1903485	NM_001130698.2(TRPC3):c.2691A>T (p.Gln897His)	TRPC3 (Q824H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779331	NM_001130698.2(TRPC3):c.2686A>G (p.Ser896Gly)	TRPC3 (S896G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2295018	NM_001130698.2(TRPC3):c.2684A>G (p.Lys895Arg)	TRPC3 (K822R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306718	NM_001130698.2(TRPC3):c.2680G>A (p.Asp894Asn)	TRPC3 (D894N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2003811	NM_001130698.2(TRPC3):c.2670A>G (p.Glu890=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1988034	NM_001130698.2(TRPC3):c.2624-17dup	TRPC3	Duplication (intron variant)	not provided	GBenign
Select item 493399	NM_001130698.2(TRPC3):c.2620G>T (p.Glu874Ter)	TRPC3 (E874* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1965536	NM_001130698.2(TRPC3):c.2577T>C (p.Tyr859=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935051	NM_001130698.2(TRPC3):c.2547+18G>A	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917345	NM_001130698.2(TRPC3):c.2547+17C>T	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3242189	NM_001130698.2(TRPC3):c.2545C>A (p.Gln849Lys)	TRPC3 (Q776K +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 2884660	NM_001130698.2(TRPC3):c.2539C>T (p.Arg847Cys)	TRPC3 (R774C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969005	NM_001130698.2(TRPC3):c.2481G>A (p.Gln827=)	TRPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738682	NM_001130698.2(TRPC3):c.2469C>T (p.Asn823=)	TRPC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005306	NM_001130698.2(TRPC3):c.2468A>C (p.Asn823Thr)	TRPC3 (N823T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088050	NM_001130698.2(TRPC3):c.2464-14G>A	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066242	NM_001130698.2(TRPC3):c.2463+10G>A	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955476	NM_001130698.2(TRPC3):c.2463+9C>T	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932179	NM_001130698.2(TRPC3):c.2459C>T (p.Ser820Phe)	TRPC3 (S747F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522112	NM_001130698.2(TRPC3):c.2447G>A (p.Gly816Asp)	TRPC3 (G743D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187367	NM_001130698.2(TRPC3):c.2438T>C (p.Met813Thr)	TRPC3 (M740T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075242	NM_001130698.2(TRPC3):c.2430T>C (p.Asp810=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135323	NM_001130698.2(TRPC3):c.2418G>A (p.Arg806=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2746994	NM_001130698.2(TRPC3):c.2407A>C (p.Arg803=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021166	NM_001130698.2(TRPC3):c.2402A>G (p.Lys801Arg)	TRPC3 (K728R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329168	NM_001130698.2(TRPC3):c.2389G>A (p.Val797Ile)	TRPC3 (V724I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2988083	NM_001130698.2(TRPC3):c.2384G>A (p.Arg795Gln)	TRPC3 (R795Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886512	NM_001130698.2(TRPC3):c.2377A>T (p.Ile793Phe)	TRPC3 (I720F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746825	NM_001130698.2(TRPC3):c.2376C>A (p.Phe792Leu)	TRPC3 (F719L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655062	NM_001130698.2(TRPC3):c.2364A>G (p.Ser788=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2282054	NM_001130698.2(TRPC3):c.2322A>C (p.Lys774Asn)	TRPC3 (K774N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3012611	NM_001130698.2(TRPC3):c.2310T>C (p.Phe770=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 192274	NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)	TRPC3 (R762H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001084	NM_001130698.2(TRPC3):c.2284C>T (p.Arg762Cys)	TRPC3 (R762C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329170	NM_001130698.2(TRPC3):c.2257G>A (p.Asp753Asn)	TRPC3 (D753N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1901216	NM_001130698.2(TRPC3):c.2254-18dup	TRPC3	Duplication (intron variant)	not provided	GBenign
Select item 1987527	NM_001130698.2(TRPC3):c.2253+20A>G	TRPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2190199	NM_001130698.2(TRPC3):c.2253+8G>A	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801361	NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)	TRPC3 (L666P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 2970993	NM_001130698.2(TRPC3):c.2183A>G (p.Asn728Ser)	TRPC3 (N655S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789188	NM_001130698.2(TRPC3):c.2175A>G (p.Gly725=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193861	NM_001130698.2(TRPC3):c.2164G>A (p.Val722Ile)	TRPC3 (V649I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055705	NM_001130698.2(TRPC3):c.2163C>T (p.Tyr721=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962405	NM_001130698.2(TRPC3):c.2129A>G (p.Lys710Arg)	TRPC3 (K710R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736362	NM_001130698.2(TRPC3):c.2127C>A (p.Leu709=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187342	NM_001130698.2(TRPC3):c.2118C>T (p.Ser706=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068033	NM_001130698.2(TRPC3):c.2118C>A (p.Ser706=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043556	NM_001130698.2(TRPC3):c.2113A>T (p.Thr705Ser)	TRPC3 (T632S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473260	NM_001130698.2(TRPC3):c.2110G>A (p.Val704Met)	TRPC3 (V631M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2772526	NM_001130698.2(TRPC3):c.2058-19del	TRPC3	Deletion (intron variant)	not provided	GLikely benign
Select item 2772527	NM_001130698.2(TRPC3):c.2058-20G>C	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016023	NM_001130698.2(TRPC3):c.2057+10del	TRPC3	Deletion (intron variant)	not provided	GBenign
Select item 3006486	NM_001130698.2(TRPC3):c.2025C>A (p.Tyr675Ter)	TRPC3 (Y675* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3183223	NM_001130698.2(TRPC3):c.2018C>T (p.Ser673Phe)	TRPC3 (S673F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2844123	NM_001130698.2(TRPC3):c.1998T>G (p.Ile666Met)	TRPC3 (I593M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329169	NM_001130698.2(TRPC3):c.1996A>T (p.Ile666Phe)	TRPC3 (I666F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2089874	NM_001130698.2(TRPC3):c.1967T>C (p.Leu656Pro)	TRPC3 (L583P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952237	NM_001130698.2(TRPC3):c.1894G>T (p.Ala632Ser)	TRPC3 (A632S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984044	NM_001130698.2(TRPC3):c.1885A>G (p.Ile629Val)	TRPC3 (I556V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188688	NM_001130698.2(TRPC3):c.1849A>G (p.Ile617Val)	TRPC3 (I544V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329167	NM_001130698.2(TRPC3):c.1830A>G (p.Ile610Met)	TRPC3 (I537M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776832	NM_001130698.2(TRPC3):c.1798G>A (p.Asp600Asn)	TRPC3 (D527N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704512	NM_001130698.2(TRPC3):c.1778A>G (p.Gln593Arg)	TRPC3 (Q520R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183222	NM_001130698.2(TRPC3):c.1771G>C (p.Glu591Gln)	TRPC3 (E591Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2957055	NM_001130698.2(TRPC3):c.1732G>A (p.Val578Ile)	TRPC3 (V505I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941235	NM_001130698.2(TRPC3):c.1719T>C (p.Tyr573=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840053	NM_001130698.2(TRPC3):c.1716G>C (p.Gln572His)	TRPC3 (Q499H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183221	NM_001130698.2(TRPC3):c.1715A>T (p.Gln572Leu)	TRPC3 (Q572L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675958	NM_001130698.2(TRPC3):c.1707G>A (p.Lys569=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2060308	NM_001130698.2(TRPC3):c.1704G>A (p.Thr568=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2531929	NM_001130698.2(TRPC3):c.1654A>C (p.Ile552Leu)	TRPC3 (I552L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183220	NM_001130698.2(TRPC3):c.1573G>A (p.Glu525Lys)	TRPC3 (E452K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2959066	NM_001130698.2(TRPC3):c.1558+18A>C	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970574	NM_001130698.2(TRPC3):c.1558+4A>T	TRPC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3329171	NM_001130698.2(TRPC3):c.1534A>T (p.Met512Leu)	TRPC3 (M512L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027487	NM_001130698.2(TRPC3):c.1419del (p.Val474fs)	TRPC3 (V401fs +1 more)	Deletion (frameshift variant)	Spinocerebellar ataxia type 41	GPathogenic
Select item 2998035	NM_001130698.2(TRPC3):c.1386T>C (p.His462=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807581	NM_001130698.2(TRPC3):c.1347G>A (p.Gly449=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932669	NM_001130698.2(TRPC3):c.1342-20T>C	TRPC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971374	NM_001130698.2(TRPC3):c.1330C>T (p.Pro444Ser)	TRPC3 (P371S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170739	NM_001130698.2(TRPC3):c.1328C>T (p.Ala443Val)	TRPC3 (A443V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023679	NM_001130698.2(TRPC3):c.1326C>T (p.Ile442=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038530	NM_001130698.2(TRPC3):c.1312A>T (p.Ile438Phe)	TRPC3 (I438F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131770	NM_001130698.2(TRPC3):c.1305C>T (p.Phe435=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776014	NM_001130698.2(TRPC3):c.1296C>T (p.Gly432=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2074509	NM_001130698.2(TRPC3):c.1285G>A (p.Val429Met)	TRPC3 (V356M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115522	NM_001130698.2(TRPC3):c.1284C>T (p.Val428=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048950	NM_001130698.2(TRPC3):c.1268G>A (p.Cys423Tyr)	TRPC3 (C350Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981110	NM_001130698.2(TRPC3):c.1214C>T (p.Thr405Met)	TRPC3 (T332M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148249	NM_001130698.2(TRPC3):c.1203G>A (p.Gln401=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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