C1854063[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 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 44867	NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	DSP (N593S)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 44874	NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	DSP (R808C)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 162505	NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)	DSP (Q1394*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not specified +8 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 161227	NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)	DSP (R1775I)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 161225	NM_004415.4(DSP):c.5513G>A (p.Arg1838His)	DSP (R1239H +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 180336	NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	DSP (K2103E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 44943	NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	DSP (A2294G +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 161228	NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)	DSP (G1776R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic