"Clinical Genetics, Academic Medical Center"[submitter] AND "DSP-AS1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36015	NM_004415.4(DSP):c.1dup (p.Met1fs)	DSP, DSP-AS1 (M1fs)	Duplication	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 465915	NM_004415.4(DSP):c.81C>A (p.Arg27=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 534307	NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)	DSP, DSP-AS1 (Y28D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 36016	NM_004415.4(DSP):c.105G>A (p.Gly35=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 44855	NM_004415.4(DSP):c.126T>C (p.Tyr42=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +7 more	GBenign

ClinVar