"DSC3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1276898	NM_001941.5(DSC3):c.2494-134C>T	DSC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3033281	NM_001941.5(DSC3):c.2218C>T (p.Pro740Ser)	DSC3 (P740S)	Single nucleotide variant (missense variant)	DSC3-related disorder	GLikely benign
Select item 1288388	NM_001941.5(DSC3):c.1797T>C (p.Pro599=)	DSC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3050367	NM_001941.5(DSC3):c.1608G>A (p.Glu536=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 3040227	NM_001941.5(DSC3):c.972A>G (p.Lys324=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 3042216	NM_001941.5(DSC3):c.595C>T (p.Arg199Trp)	DSC3 (R199W)	Single nucleotide variant (missense variant)	DSC3-related disorder	GBenign

ClinVar