ClinVar for Gene (Select 7134) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327644	NM_003280.3(TNNC1):c.441C>T (p.Arg147=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3327643	NM_003280.3(TNNC1):c.293C>G (p.Ser98Cys)	TNNC1 (S98C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3246907	NC_000003.11:g.(?_52485291)_(52488031_?)dup	TNNC1	Duplication	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2954416	NM_003280.3(TNNC1):c.391del (p.Asp131fs)	TNNC1 (D131fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2953038	NM_003280.3(TNNC1):c.133A>G (p.Met45Val)	TNNC1 (M45V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2950734	NM_003280.3(TNNC1):c.318-14C>A	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2949918	NM_003280.3(TNNC1):c.56-13C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2947089	NM_003280.3(TNNC1):c.150G>T (p.Gln50His)	TNNC1 (Q50H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2943216	NM_003280.3(TNNC1):c.188A>C (p.Glu63Ala)	TNNC1 (E63A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2943024	NM_003280.3(TNNC1):c.268_269insT (p.Lys90fs)	TNNC1 (K90fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2942757	NM_003280.3(TNNC1):c.434A>T (p.Asp145Val)	TNNC1 (D145V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2941702	NM_003280.3(TNNC1):c.225T>C (p.Asp75=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2941676	NM_003280.3(TNNC1):c.141G>A (p.Met47Ile)	TNNC1 (M47I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2941248	NM_003280.3(TNNC1):c.455-3C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2938397	NM_003280.3(TNNC1):c.247C>G (p.Arg83Gly)	TNNC1 (R83G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2937263	NM_003280.3(TNNC1):c.56-16C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2934206	NM_003280.3(TNNC1):c.330C>G (p.Gly110=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2932114	NM_003280.3(TNNC1):c.386C>G (p.Thr129Arg)	TNNC1 (T129R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2931132	NM_003280.3(TNNC1):c.454+8G>C	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2931069	NM_003280.3(TNNC1):c.429C>A (p.Asn143Lys)	TNNC1 (N143K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2929405	NM_003280.3(TNNC1):c.203-7C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2926826	NM_003280.3(TNNC1):c.30G>A (p.Glu10=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2926691	NM_003280.3(TNNC1):c.408C>T (p.Leu136=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2925829	NM_003280.3(TNNC1):c.56-17C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2925577	NM_003280.3(TNNC1):c.203-13dup	TNNC1	Duplication (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2922176	NM_003280.3(TNNC1):c.51A>G (p.Lys17=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2921612	NM_003280.3(TNNC1):c.286_287delinsAT (p.Glu96Met)	TNNC1 (E96M)	Indel (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2691717	NM_003280.3(TNNC1):c.135G>A (p.Met45Ile)	TNNC1 (M45I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GLikely pathogenic
Select item 2691049	NM_003280.3(TNNC1):c.486G>T (p.Ter162Tyr)	TNNC1	Single nucleotide variant (stop lost)	Cardiomyopathy	GUncertain significance
Select item 2671823	NM_003280.3(TNNC1):c.64G>T (p.Ala22Ser)	TNNC1 (A22S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GUncertain significance
Select item 2630503	NM_003280.3(TNNC1):c.55+2T>C	TNNC1	Single nucleotide variant (splice donor variant)	TNNC1-related disorder	GUncertain significance
Select item 2627310	NM_003280.3(TNNC1):c.203-14C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 2585944	NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu)	TNNC1 (K138E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585943	NM_003280.3(TNNC1):c.230del (p.Phe77fs)	TNNC1 (F77fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 13 +2 more	GUncertain significance
Select item 2585942	NM_003280.3(TNNC1):c.225T>G (p.Asp75Glu)	TNNC1 (D75E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585941	NM_003280.3(TNNC1):c.154C>T (p.Pro52Ser)	TNNC1 (P52S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2585564	NM_003280.3(TNNC1):c.184G>T (p.Asp62Tyr)	TNNC1 (D62Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GUncertain significance
Select item 2573165	NM_003280.3(TNNC1):c.12C>G (p.Ile4Met)	TNNC1 (I4M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GPathogenic
Select item 2573114	NM_003280.3(TNNC1):c.100G>C (p.Gly34Arg)	TNNC1	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GPathogenic
Select item 2565481	NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly)	TNNC1 (D139G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2506292	NM_003280.3(TNNC1):c.454+16G>A	TNNC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2501142	NM_003280.3(TNNC1):c.-7C>A	TNNC1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2476488	NM_003280.3(TNNC1):c.57G>T (p.Glu19Asp)	TNNC1 (E19D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2430834	NM_003280.3(TNNC1):c.109A>G (p.Ser37Gly)	TNNC1 (S37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2424666	NC_000003.11:g.(?_52485283)_(52485425_?)del	TNNC1	Deletion	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2415064	NM_003280.3(TNNC1):c.396C>T (p.Asp132=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2194322	NM_003280.3(TNNC1):c.318-7C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2188773	NM_003280.3(TNNC1):c.454+15G>A	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2186794	NM_003280.3(TNNC1):c.306C>T (p.Arg102=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2174316	NM_003280.3(TNNC1):c.108C>T (p.Ile36=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2173023	NM_003280.3(TNNC1):c.275A>T (p.Lys92Ile)	TNNC1 (K92I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2165577	NM_003280.3(TNNC1):c.147C>G (p.Gly49=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2154289	NM_003280.3(TNNC1):c.56-14A>C	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2150641	NM_003280.3(TNNC1):c.55+20_55+21del	TNNC1	Deletion (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2148135	NM_003280.3(TNNC1):c.25-14C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2140586	NM_003280.3(TNNC1):c.203-17A>G	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2139573	NM_003280.3(TNNC1):c.162del (p.Glu55fs)	TNNC1 (E55fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2129873	NM_003280.3(TNNC1):c.317+7A>G	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2125406	NM_003280.3(TNNC1):c.257A>C (p.Lys86Thr)	TNNC1 (K86T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2112077	NM_003280.3(TNNC1):c.158C>T (p.Thr53Ile)	TNNC1 (T53I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2104457	NM_003280.3(TNNC1):c.171G>A (p.Leu57=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2102193	NM_003280.3(TNNC1):c.314A>G (p.Asp105Gly)	TNNC1 (D105G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 2098205	NM_003280.3(TNNC1):c.65C>A (p.Ala22Glu)	TNNC1 (A22E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2053215	NM_003280.3(TNNC1):c.202+16C>G	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 2050261	NM_003280.3(TNNC1):c.339C>A (p.Asp113Glu)	TNNC1 (D113E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2048914	NM_003280.3(TNNC1):c.5A>T (p.Asp2Val)	TNNC1 (D2V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2025740	NM_003280.3(TNNC1):c.202+8C>A	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 2006012	NM_003280.3(TNNC1):c.215T>C (p.Val72Ala)	TNNC1 (V72A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2005768	NM_003280.3(TNNC1):c.322_338del (p.Ala108fs)	TNNC1 (A108fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 2002139	NM_003280.3(TNNC1):c.121C>A (p.Leu41Met)	TNNC1 (L41M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1998559	NM_003280.3(TNNC1):c.163G>A (p.Glu55Lys)	TNNC1 (E55K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1991753	NM_003280.3(TNNC1):c.168G>A (p.Glu56=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1950222	NM_003280.3(TNNC1):c.337del (p.Asp113fs)	TNNC1 (D113fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1945387	NM_003280.3(TNNC1):c.399C>T (p.Ile133=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 1940098	NM_003280.3(TNNC1):c.317+9G>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 1917752	NM_003280.3(TNNC1):c.202+2T>C	TNNC1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1915232	NM_003280.3(TNNC1):c.351G>A (p.Leu117=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 1910985	NM_003280.3(TNNC1):c.56-16dup	TNNC1	Duplication (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GBenign
Select item 1803151	NM_003280.3(TNNC1):c.469A>G (p.Met157Val)	TNNC1 (M157V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GUncertain significance
Select item 1790989	NM_003280.3(TNNC1):c.241A>T (p.Met81Leu)	TNNC1 (M81L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1775877	NM_003280.3(TNNC1):c.158C>A (p.Thr53Asn)	TNNC1 (T53N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758034	NM_003280.3(TNNC1):c.123G>T (p.Leu41=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1754405	NM_003280.3(TNNC1):c.65C>T (p.Ala22Val)	TNNC1 (A22V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1747287	NM_003280.3(TNNC1):c.53A>C (p.Asn18Thr)	TNNC1 (N18T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740670	NM_003280.3(TNNC1):c.444C>A (p.Ile148=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 1739077	NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg)	TNNC1 (K39R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 1738994	NM_003280.3(TNNC1):c.424_425del (p.Lys142fs)	TNNC1 (K142fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737187	NM_003280.3(TNNC1):c.402G>A (p.Glu134=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734641	NM_003280.3(TNNC1):c.375C>T (p.Gly125=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1733495	NM_003280.3(TNNC1):c.363G>T (p.Leu121=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 1722122	NM_003280.3(TNNC1):c.8A>G (p.Asp3Gly)	TNNC1 (D3G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1721090	NM_003280.3(TNNC1):c.321T>G (p.Asn107Lys)	TNNC1 (N107K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1719900	NM_003280.3(TNNC1):c.416A>C (p.Asp139Ala)	TNNC1 (D139A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1719253	NM_003280.3(TNNC1):c.370A>C (p.Thr124Pro)	TNNC1 (T124P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1715920	NM_003280.3(TNNC1):c.183C>G (p.Ile61Met)	TNNC1 (I61M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1714953	NM_003280.3(TNNC1):c.175G>A (p.Glu59Lys)	TNNC1 (E59K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1714147	NM_003280.3(TNNC1):c.436G>C (p.Gly146Arg)	TNNC1 (G146R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance

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