7134[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 1290281	NC_000003.12:g.52451089G>C	TNNC1	Single nucleotide variant	not provided	GBenign
Select item 346128	NM_003280.3(TNNC1):c.*127C>T	TNNC1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1Z +2 more	GConflicting classifications of pathogenicity
Select item 1232889	NM_003280.3(TNNC1):c.*123G>A	TNNC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 346129	NM_003280.3(TNNC1):c.*83A>C	TNNC1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1Z +2 more	GBenign/Likely benign
Select item 1289671	NM_003280.3(TNNC1):c.*77G>T	TNNC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 346130	NM_003280.3(TNNC1):c.*75G>A	TNNC1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1310003	NM_003280.3(TNNC1):c.*8C>T	TNNC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2691049	NM_003280.3(TNNC1):c.486G>T (p.Ter162Tyr)	TNNC1	Single nucleotide variant (stop lost)	Cardiomyopathy	GUncertain significance
Select item 1158897	NM_003280.3(TNNC1):c.483G>A (p.Glu161=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 179485	NM_003280.3(TNNC1):c.480G>A (p.Val160=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 12441	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)	TNNC1 (G159D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1648639	NM_003280.3(TNNC1):c.474G>A (p.Lys158=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1442716	NM_003280.3(TNNC1):c.473A>G (p.Lys158Arg)	TNNC1 (K158R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 470559	NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr)	TNNC1 (K158T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1370520	NM_003280.3(TNNC1):c.470T>G (p.Met157Arg)	TNNC1 (M157R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
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 181569	NM_003280.3(TNNC1):c.469A>C (p.Met157Leu)	TNNC1 (M157L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180550	NM_003280.3(TNNC1):c.469A>T (p.Met157Leu)	TNNC1 (M157L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1677438	NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp)	TNNC1 (E152D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 239537	NM_003280.3(TNNC1):c.456G>A (p.Glu152=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 2941248	NM_003280.3(TNNC1):c.455-3C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1156433	NM_003280.3(TNNC1):c.455-5C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 948109	NM_003280.3(TNNC1):c.455-6C>G	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +2 more	GConflicting classifications of pathogenicity
Select item 137683	NM_003280.3(TNNC1):c.455-14C>A	TNNC1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1589264	NM_003280.3(TNNC1):c.455-18C>T	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 1624977	NM_003280.3(TNNC1):c.455-19C>A	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 1581324	NM_003280.3(TNNC1):c.454+17G>A	TNNC1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2506292	NM_003280.3(TNNC1):c.454+16G>A	TNNC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2188773	NM_003280.3(TNNC1):c.454+15G>A	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
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 696794	NM_003280.3(TNNC1):c.454+6dup	TNNC1	Duplication (intron variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 415848	NM_003280.3(TNNC1):c.454+7G>A	TNNC1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 13 +2 more	GConflicting classifications of pathogenicity
Select item 508670	NM_003280.3(TNNC1):c.454+6C>T	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +2 more	GConflicting classifications of pathogenicity
Select item 229326	NM_003280.3(TNNC1):c.454+6C>G	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +2 more	GUncertain significance
Select item 1494546	NM_003280.3(TNNC1):c.454+3A>G	TNNC1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1687145	NM_003280.3(TNNC1):c.454G>A (p.Glu152Lys)	TNNC1 (E152K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z	GPathogenic
Select item 409875	NM_003280.3(TNNC1):c.452A>T (p.Asp151Val)	TNNC1 (D151V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 181568	NM_003280.3(TNNC1):c.446A>G (p.Asp149Gly)	TNNC1 (D149G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44683	NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn)	TNNC1 (D149N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +3 more	GUncertain significance
Select item 1740670	NM_003280.3(TNNC1):c.444C>A (p.Ile148=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 700167	NM_003280.3(TNNC1):c.444C>T (p.Ile148=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GConflicting classifications of pathogenicity
Select item 44682	NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)	TNNC1 (I148V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +3 more	GUncertain significance
Select item 949818	NM_003280.3(TNNC1):c.440G>A (p.Arg147His)	TNNC1 (R147H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1284605	NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys)	TNNC1 (R147C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1714147	NM_003280.3(TNNC1):c.436G>C (p.Gly146Arg)	TNNC1 (G146R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1713433	NM_003280.3(TNNC1):c.436G>T (p.Gly146Cys)	TNNC1 (G146C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1509428	NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser)	TNNC1 (G146S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +2 more	GUncertain significance
Select item 228016	NM_003280.3(TNNC1):c.435C>T (p.Asp145=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 12445	NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)	TNNC1 (D145E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +5 more	GUncertain significance
Select item 2942757	NM_003280.3(TNNC1):c.434A>T (p.Asp145Val)	TNNC1 (D145V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1329256	NM_003280.3(TNNC1):c.433G>C (p.Asp145His)	TNNC1 (D145H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 409874	NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn)	TNNC1 (D145N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +2 more	GUncertain significance
Select item 1290278	NM_003280.3(TNNC1):c.432C>T (p.Asn144=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 504180	NM_003280.3(TNNC1):c.427AAC[1] (p.Asn144del)	TNNC1 (N144del)	Microsatellite (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 235061	NM_003280.3(TNNC1):c.431A>G (p.Asn144Ser)	TNNC1 (N144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 181567	NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)	TNNC1 (N144D)	Single nucleotide variant (missense variant)	TNNC1-related condition +6 more	GConflicting classifications of pathogenicity
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 847856	NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn)	TNNC1 (K142N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 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 643139	NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu)	TNNC1 (G140E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 960916	NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg)	TNNC1 (G140R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +2 more	GUncertain significance
Select item 626719	NM_003280.3(TNNC1):c.417C>T (p.Asp139=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
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 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 2585944	NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu)	TNNC1 (K138E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2926691	NM_003280.3(TNNC1):c.408C>T (p.Leu136=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 1024775	NM_003280.3(TNNC1):c.404A>C (p.Glu135Ala)	TNNC1 (E135A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	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 44681	NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp)	TNNC1 (E134D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 470558	NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys)	TNNC1 (E134K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +4 more	GUncertain significance
Select item 1945387	NM_003280.3(TNNC1):c.399C>T (p.Ile133=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 640123	NM_003280.3(TNNC1):c.397A>G (p.Ile133Val)	TNNC1 (I133V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	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 569293	NM_003280.3(TNNC1):c.391GAC[1] (p.Asp132del)	TNNC1 (D132del)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 44680	NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn)	TNNC1 (D132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 470557	NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu)	TNNC1 (D131E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 383146	NM_003280.3(TNNC1):c.393C>T (p.Asp131=)	TNNC1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 470556	NM_003280.3(TNNC1):c.387G>A (p.Thr129=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 44679	NM_003280.3(TNNC1):c.387G>C (p.Thr129=)	TNNC1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2932114	NM_003280.3(TNNC1):c.386C>G (p.Thr129Arg)	TNNC1 (T129R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 518916	NM_003280.3(TNNC1):c.386C>T (p.Thr129Met)	TNNC1 (T129M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 796005	NM_003280.3(TNNC1):c.384C>T (p.Ile128=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +2 more	GLikely benign
Select item 537984	NM_003280.3(TNNC1):c.383T>C (p.Ile128Thr)	TNNC1 (I128T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 181566	NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys)	TNNC1 (E126K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +3 more	GUncertain significance
Select item 1734641	NM_003280.3(TNNC1):c.375C>T (p.Gly125=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 1549520	NM_003280.3(TNNC1):c.375C>A (p.Gly125=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 793668	NM_003280.3(TNNC1):c.372A>G (p.Thr124=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
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 1478081	NM_003280.3(TNNC1):c.362_364delinsCTT (p.Leu121_Gln122delinsProTer)	TNNC1	Indel (nonsense)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1404324	NM_003280.3(TNNC1):c.363dup (p.Gln122fs)	TNNC1 (Q122fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 1733495	NM_003280.3(TNNC1):c.363G>T (p.Leu121=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +2 more	GLikely benign
Select item 860219	NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr)	TNNC1 (I119T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 580935	NM_003280.3(TNNC1):c.355A>G (p.Ile119Val)	TNNC1 (I119V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 13 +1 more	GUncertain significance
Select item 1423039	NM_003280.3(TNNC1):c.354G>T (p.Lys118Asn)	TNNC1 (K118N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance
Select item 744197	NM_003280.3(TNNC1):c.354G>A (p.Lys118=)	TNNC1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 13 +1 more	GLikely benign
Select item 1915232	NM_003280.3(TNNC1):c.351G>A (p.Leu117=)	TNNC1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Z +1 more	GLikely benign
Select item 409873	NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp)	TNNC1 (E116D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Z +1 more	GUncertain significance

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