"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DSP-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357933	NM_004415.4(DSP):c.-157G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Woolly hair-skin fragility syndrome +5 more	GUncertain significance
Select item 910508	NM_004415.4(DSP):c.-70C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GUncertain significance
Select item 645816	NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	DSP, DSP-AS1 (T13I)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 199913	NM_004415.4(DSP):c.47G>C (p.Arg16Pro)	DSP, DSP-AS1 (R16P)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 534320	NM_004415.4(DSP):c.78G>T (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GLikely benign
Select item 922929	NM_004415.4(DSP):c.104G>C (p.Gly35Ala)	DSP-AS1, DSP (G35A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 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)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 451932	NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	DSP, DSP-AS1 (G46D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +10 more	GConflicting classifications of pathogenicity
Select item 1066406	NM_004415.4(DSP):c.170+1G>A	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +7 more	GLikely pathogenic