LOC130004109[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 300780	NM_014000.3(VCL):c.-62T>G	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 879268	NM_014000.3(VCL):c.-58G>T	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 651810	NC_000010.11:g.(?_73998188)_(73998395_?)del	LOC130004109, VCL	Deletion	Dilated cardiomyopathy 1W	GUncertain significance
Select item 381051	NM_014000.3(VCL):c.-13G>A	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2565624	NM_014000.3(VCL):c.-4C>T	LOC130004109, VCL	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 2056170	NM_014000.3(VCL):c.4C>G (p.Pro2Ala)	LOC130004109, VCL (P2A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +1 more	GUncertain significance
Select item 1628677	NM_014000.3(VCL):c.6A>C (p.Pro2=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 3069078	NM_014000.3(VCL):c.8T>C (p.Val3Ala)	VCL, LOC130004109 (V3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1053516	NM_014000.3(VCL):c.14A>C (p.His5Pro)	LOC130004109, VCL (H5P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1142391	NM_014000.3(VCL):c.18G>A (p.Thr6=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 1378723	NM_014000.3(VCL):c.20G>A (p.Arg7His)	LOC130004109, VCL (R7H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 640967	NM_014000.3(VCL):c.20G>T (p.Arg7Leu)	LOC130004109, VCL (R7L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2420063	NM_014000.3(VCL):c.24G>A (p.Thr8=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 701969	NM_014000.3(VCL):c.24G>T (p.Thr8=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584677	NM_014000.3(VCL):c.27C>T (p.Ile9=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 796440	NM_014000.3(VCL):c.30G>A (p.Glu10=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 45607	NM_014000.3(VCL):c.31A>G (p.Ser11Gly)	LOC130004109, VCL (S11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 536703	NM_014000.3(VCL):c.32G>A (p.Ser11Asn)	LOC130004109, VCL (S11N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 879269	NM_014000.3(VCL):c.36C>T (p.Ile12=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +2 more	GConflicting classifications of pathogenicity
Select item 240882	NM_014000.3(VCL):c.45G>A (p.Pro15=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +2 more	GConflicting classifications of pathogenicity
Select item 202152	NM_014000.3(VCL):c.50C>A (p.Ala17Glu)	LOC130004109, VCL (A17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1112564	NM_014000.3(VCL):c.51A>G (p.Ala17=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1012146	NM_014000.3(VCL):c.53A>G (p.Gln18Arg)	LOC130004109, VCL (Q18R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1753297	NM_014000.3(VCL):c.63C>G (p.Ser21=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756573	NM_014000.3(VCL):c.69G>A (p.Leu23=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 761580	NM_014000.3(VCL):c.69G>C (p.Leu23=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 1759712	NM_014000.3(VCL):c.75A>C (p.Ile25=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2914952	NM_014000.3(VCL):c.77T>G (p.Met26Arg)	LOC130004109, VCL (M26R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1723062	NM_014000.3(VCL):c.79C>G (p.His27Asp)	LOC130004109, VCL (H27D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 202145	NM_014000.3(VCL):c.81C>T (p.His27=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1658519	NM_014000.3(VCL):c.87G>A (p.Glu29=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 963301	NM_014000.3(VCL):c.98A>G (p.Asp33Gly)	LOC130004109, VCL (D33G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1105627	NM_014000.3(VCL):c.99C>T (p.Asp33=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1499651	NM_014000.3(VCL):c.103A>G (p.Lys35Glu)	LOC130004109, VCL (K35E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1505280	NM_014000.3(VCL):c.107C>T (p.Ala36Val)	LOC130004109, VCL (A36V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1797465	NM_014000.3(VCL):c.111T>C (p.Ile37=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 408943	NM_014000.3(VCL):c.113C>T (p.Pro38Leu)	LOC130004109, VCL (P38L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1723116	NM_014000.3(VCL):c.118C>G (p.Leu40Val)	VCL, LOC130004109 (L40V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 1704564	NM_014000.3(VCL):c.120C>A (p.Leu40=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 166535	NM_014000.3(VCL):c.120C>T (p.Leu40=)	VCL, LOC130004109	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1755187	NM_014000.3(VCL):c.122C>T (p.Thr41Ile)	LOC130004109, VCL (T41I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099280	NM_014000.3(VCL):c.124G>A (p.Ala42Thr)	LOC130004109, VCL (A42T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 793137	NM_014000.3(VCL):c.126G>T (p.Ala42=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 1127343	NM_014000.3(VCL):c.129C>T (p.Pro43=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W +1 more	GLikely benign
Select item 1802223	NM_014000.3(VCL):c.133G>C (p.Ala45Pro)	LOC130004109, VCL (A45P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W	GUncertain significance
Select item 1770329	NM_014000.3(VCL):c.133G>A (p.Ala45Thr)	LOC130004109, VCL (A45T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1329297	NM_014000.3(VCL):c.134_135inv (p.Ala45Gly)	LOC130004109, VCL (A45G)	Inversion (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2777013	NM_014000.3(VCL):c.135C>T (p.Ala45=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1W	GLikely benign
Select item 1329298	NM_014000.3(VCL):c.135C>G (p.Ala45=)	LOC130004109, VCL	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2782911	NM_014000.3(VCL):c.136G>A (p.Ala46Thr)	LOC130004109, VCL (A46T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1771019	NM_014000.3(VCL):c.136G>T (p.Ala46Ser)	LOC130004109, VCL (A46S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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Items: 56