"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 23

	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)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GBenign/Likely benign
Select item 46184	NM_024422.6(DSC2):c.2616C>T (p.Cys872=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GBenign/Likely benign
Select item 1174704	NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)	DSC2 (Y839C)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 36006	NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)	DSC2 (R798Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 518278	NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)	DSC2 (I776M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 46178	NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)	DSC2 (I776V)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GBenign
Select item 36005	NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	DSC2 (L732V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +7 more	GConflicting classifications of pathogenicity
Select item 199778	NM_024422.6(DSC2):c.2125+1del	DSC2	Deletion (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137158	NM_024422.6(DSC2):c.1719C>T (p.Asn573=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 518279	NM_024422.6(DSC2):c.1371A>G (p.Thr457=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 36004	NM_024422.6(DSC2):c.1350A>G (p.Arg450=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1174924	NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr)	DSC2 (A441T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1299861	NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)	DSC2 (Q320P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 419777	NM_024422.6(DSC2):c.943-1G>A	DSC2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GConflicting classifications of pathogenicity
Select item 46200	NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)	DSC2 (P289S)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GUncertain significance
Select item 326398	NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)	DSC2 (I285T)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 808378	NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)	DSC2 (A133T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178972	NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)	DSC2 (R132C)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 46188	NM_024422.6(DSC2):c.351A>G (p.Thr117=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 46189	NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)	DSC2 (E102K)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46187	NM_024422.6(DSC2):c.270G>A (p.Glu90=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46163	NM_024422.6(DSC2):c.111A>G (p.Leu37=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
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

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Items: 23