"Ambry Genetics"[submitter] AND "DSCAS"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1756059	NM_024422.6(DSC2):c.68C>T (p.Ala23Val)	DSC2, DSCAS (A23V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753302	NM_024422.6(DSC2):c.63C>T (p.Thr21=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1172208	NM_024422.6(DSC2):c.60G>A (p.Leu20=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 629733	NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)	DSC2, DSCAS (R16Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1741789	NM_024422.6(DSC2):c.45C>T (p.Cys15=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734059	NM_024422.6(DSC2):c.36A>T (p.Gly12=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 919606	NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg)	DSC2, DSCAS	Indel (missense variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 199777	NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)	DSC2, DSCAS (G12R)	Single nucleotide variant (missense variant)	DSC2-related condition +6 more	GBenign/Likely benign
Select item 46191	NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)	DSC2, DSCAS (N11S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 519338	NM_024422.6(DSC2):c.30G>T (p.Trp10Cys)	DSC2, DSCAS (W10C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 199758	NM_024422.6(DSC2):c.23G>T (p.Gly8Val)	DSC2, DSCAS (G8V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 891405	NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)	DSC2, DSCAS (R5L)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 519437	NM_024422.6(DSC2):c.12C>A (p.Ala4=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GLikely benign
Select item 199776	NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)	DSC2, DSCAS (E2K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2591503	NM_024421.2(DSC1):c.2611G>C (p.Glu871Gln)	DSC1, DSCAS (E871Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534896	NM_024421.2(DSC1):c.2603G>T (p.Arg868Leu)	DSC1, DSCAS (R868L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590110	NM_024421.2(DSC1):c.2578G>A (p.Gly860Ser)	DSC1, DSCAS (G860S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242585	NM_024421.2(DSC1):c.2575G>A (p.Ala859Thr)	DSC1, DSCAS (A859T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303972	NM_024421.2(DSC1):c.2551A>G (p.Asn851Asp)	DSCAS, DSC1 (N851D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236225	NM_024421.2(DSC1):c.2477G>A (p.Arg826Gln)	DSC1, DSCAS (R826Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305438	NM_024421.2(DSC1):c.2396C>A (p.Thr799Asn)	DSCAS, DSC1 (T799N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479966	NM_024421.2(DSC1):c.2318G>C (p.Gly773Ala)	DSC1, DSCAS (G773A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381371	NM_024421.2(DSC1):c.2292G>A (p.Met764Ile)	DSC1, DSCAS (M764I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309718	NM_024421.2(DSC1):c.2173C>T (p.Pro725Ser)	DSCAS, DSC1 (P725S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464615	NM_024421.2(DSC1):c.2150A>G (p.Lys717Arg)	DSC1, DSCAS (K717R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374175	NM_024421.2(DSC1):c.2035A>T (p.Ser679Cys)	DSC1, DSCAS (S679C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486030	NM_024421.2(DSC1):c.1988G>C (p.Arg663Thr)	DSC1, DSCAS (R663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411818	NM_024421.2(DSC1):c.1901G>T (p.Arg634Leu)	DSC1, DSCAS (R634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406887	NM_024421.2(DSC1):c.1873G>T (p.Asp625Tyr)	DSC1, DSCAS (D625Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361767	NM_024421.2(DSC1):c.1817C>G (p.Pro606Arg)	DSCAS, DSC1 (P606R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264381	NM_024421.2(DSC1):c.1748T>C (p.Ile583Thr)	DSCAS, DSC1 (I583T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352411	NM_024421.2(DSC1):c.1720G>A (p.Ala574Thr)	DSC1, DSCAS (A574T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527203	NM_024421.2(DSC1):c.1694T>C (p.Val565Ala)	DSC1, DSCAS (V565A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222741	NM_024421.2(DSC1):c.1589T>G (p.Leu530Arg)	DSCAS, DSC1 (L530R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557017	NM_024421.2(DSC1):c.1504A>G (p.Ser502Gly)	DSC1, DSCAS (S502G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494707	NM_024421.2(DSC1):c.1387A>G (p.Ile463Val)	DSC1, DSCAS (I463V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475482	NM_024421.2(DSC1):c.1327T>C (p.Ser443Pro)	DSC1, DSCAS (S443P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213651	NM_024421.2(DSC1):c.847A>C (p.Ile283Leu)	DSC1, DSCAS (I283L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481028	NM_024421.2(DSC1):c.833G>A (p.Arg278His)	DSC1, DSCAS (R278H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508380	NM_024421.2(DSC1):c.626C>T (p.Ala209Val)	DSC1, DSCAS (A209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524862	NM_024421.2(DSC1):c.560T>C (p.Ile187Thr)	DSC1, DSCAS (I187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392416	NM_024421.2(DSC1):c.559A>G (p.Ile187Val)	DSCAS, DSC1 (I187V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465737	NM_024421.2(DSC1):c.503T>C (p.Ile168Thr)	DSC1, DSCAS (I168T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457374	NM_024421.2(DSC1):c.326T>C (p.Val109Ala)	DSC1, DSCAS (V109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518379	NM_024421.2(DSC1):c.325G>A (p.Val109Ile)	DSC1, DSCAS (V109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2403273	NM_024421.2(DSC1):c.304C>T (p.Arg102Trp)	DSCAS, DSC1 (R102W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284462	NM_024421.2(DSC1):c.188G>A (p.Arg63Gln)	DSC1, DSCAS (R63Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262745	NM_024421.2(DSC1):c.94A>G (p.Lys32Glu)	DSCAS, DSC1 (K32E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204962	NM_024421.2(DSC1):c.42G>C (p.Lys14Asn)	DSCAS, DSC1 (K14N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 49