"Color Diagnostics, LLC DBA Color Health"[submitter] AND "DSCAS"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 926303	NM_024422.6(DSC2):c.69+2T>C	DSCAS, DSC2	Single nucleotide variant (splice donor variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1322769	NM_024422.6(DSC2):c.69+1G>A	DSC2, DSCAS	Single nucleotide variant (splice donor variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2775199	NM_024422.6(DSC2):c.69G>T (p.Ala23=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 924236	NM_024422.6(DSC2):c.69G>A (p.Ala23=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 922713	NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)	DSC2, DSCAS (T21N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 1172208	NM_024422.6(DSC2):c.60G>A (p.Leu20=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GLikely benign
Select item 2775200	NM_024422.6(DSC2):c.54C>A (p.Leu18=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 924102	NM_024422.6(DSC2):c.48G>A (p.Arg16=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	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	GConflicting classifications of pathogenicity
Select item 921246	NM_024422.6(DSC2):c.46C>T (p.Arg16Trp)	DSC2, DSCAS (R16W)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
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 241473	NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)	DSC2, DSCAS (G12R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 199777	NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)	DSC2, DSCAS (G12R)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 46191	NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)	DSC2, DSCAS (N11S)	Single nucleotide variant (missense variant)	not specified +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 926328	NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)	DSCAS, DSC2 (W10R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 199759	NM_024422.6(DSC2):c.26C>G (p.Ser9Cys)	DSC2, DSCAS (S9C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 922112	NM_024422.6(DSC2):c.24C>T (p.Gly8=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 199758	NM_024422.6(DSC2):c.23G>T (p.Gly8Val)	DSC2, DSCAS (G8V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 925438	NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)	DSC2, DSCAS (S7F)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 891405	NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)	DSC2, DSCAS (R5L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 923096	NM_024422.6(DSC2):c.13C>G (p.Arg5Gly)	DSC2, DSCAS (R5G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
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)	DSCAS, DSC2 (E2K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 925908	NM_024422.6(DSC2):c.1A>G (p.Met1Val)	DSC2, DSCAS (M1V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 2775201	NM_024422.6(DSC2):c.-4C>T	DSCAS, DSC2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 923854	NM_024422.6(DSC2):c.-6C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 925235	NM_024422.6(DSC2):c.-12C>G	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GLikely benign

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Items: 28