"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DSC2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633190	NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)	DSC2 (R875Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 427964	NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)	DSC2 (S868F)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 1460984	NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)	DSC2 (E825D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 191620	NM_024422.6(DSC2):c.2314G>A (p.Val772Met)	DSC2 (V772M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 199772	NM_024422.6(DSC2):c.2298G>C (p.Gln766His)	DSC2 (Q766H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 3380544	NM_024422.6(DSC2):c.1672A>G (p.Thr558Ala)	DSC2 (T415A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 641127	NM_024422.6(DSC2):c.1456G>A (p.Val486Met)	DSC2 (V486M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 468386	NM_024422.6(DSC2):c.777C>T (p.Gly259=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2683453	NM_024422.6(DSC2):c.415C>G (p.Pro139Ala)	DSC2 (P139A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 536266	NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)	DSC2 (E46K)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 199758	NM_024422.6(DSC2):c.23G>T (p.Gly8Val)	DSC2, DSCAS (G8V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity