"SIB Swiss Institute of Bioinformatics"[submitter] AND "SASH1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 624632	NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala)	SASH1 (S507A +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624627	NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)	SASH1 (E509K +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624630	NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)	SASH1 (S513R +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GUncertain significance
Select item 624626	NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)	SASH1 (L515P +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624629	NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn)	SASH1 (S519N +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624633	NM_015278.5(SASH1):c.1651T>C (p.Tyr551His)	SASH1 (Y551H +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624625	NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)	SASH1 (Y551D +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624634	NM_015278.5(SASH1):c.1784T>C (p.Met595Thr)	SASH1 (M595T +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GUncertain significance