"Blueprint Genetics"[submitter] AND "DSC2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 179373	NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)	DSC2 (R875*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GUncertain significance
Select item 180318	NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)	DSC2 (R833C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 180319	NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	DSC2 (G790del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 180317	NM_024422.6(DSC2):c.2197G>A (p.Ala733Thr)	DSC2 (A733T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 36005	NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	DSC2 (L732V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 222559	NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)	DSC2 (C671S)	Indel (missense variant)	not specified +3 more	GUncertain significance
Select item 46172	NM_024422.6(DSC2):c.1901G>A (p.Arg634His)	DSC2 (R634H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 636732	NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr)	DSC2 (P606T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 155783	NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)	DSC2 (I520T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 636705	NM_024422.6(DSC2):c.1290G>C (p.Gln430His)	DSC2 (Q430H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 222560	NM_024422.6(DSC2):c.1264-4G>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 222558	NM_024422.6(DSC2):c.1219G>T (p.Val407Leu)	DSC2 (V407L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 155782	NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile)	DSC2 (N388I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 46160	NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)	DSC2 (T358I)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 222557	NM_024422.6(DSC2):c.824C>T (p.Thr275Met)	DSC2 (T275M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 46189	NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)	DSC2 (E102K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 222556	NM_024422.6(DSC2):c.47G>C (p.Arg16Pro)	DSC2, DSCAS (R16P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance