"DSP"[GENE] "c.6478C>T"[VARNAME] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 199902	NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)	DSP (R2160* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GPathogenic/Likely pathogenic
Select item 465916	NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys)	DSP (R2759C +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GUncertain significance