"Revvity Omics, Revvity"[submitter] AND "DSP"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441037	NM_004415.4(DSP):c.83A>G (p.Tyr28Cys)	DSP, DSP-AS1 (Y28C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576875	NM_004415.4(DSP):c.385C>T (p.Arg129Trp)	DSP (R129W)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	Palmoplantar blistering +11 more	GConflicting classifications of pathogenicity
Select item 629646	NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)	DSP (R606Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 2441036	NM_004415.4(DSP):c.2519C>T (p.Ser840Phe)	DSP (S840F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 921091	NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)	DSP (L912S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 199875	NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	DSP (R925Q)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +8 more	GConflicting classifications of pathogenicity
Select item 921133	NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)	DSP (C954Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178030	NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)	DSP (K1288Q)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 199883	NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)	DSP (R1392Q)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 918115	NM_004415.4(DSP):c.4518del (p.Arg1506fs)	DSP (R1506fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 691717	NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)	DSP (D1541N)	Single nucleotide variant (missense variant +1 more)	Woolly hair-skin fragility syndrome +7 more	GConflicting classifications of pathogenicity
Select item 192117	NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)	DSP (K1581E)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 44926	NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	DSP (E1740K)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +11 more	GConflicting classifications of pathogenicity
Select item 534275	NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)	DSP (Q1757*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GPathogenic/Likely pathogenic
Select item 496245	NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)	DSP (Q1799R +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 246673	NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)	DSP (V2518I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity