"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "WAS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870492	NM_000377.3(WAS):c.397G>A (p.Glu133Lys)	WAS (E133K)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GConflicting classifications of pathogenicity
Select item 372546	NM_000377.3(WAS):c.777+1G>A	WAS	Single nucleotide variant (splice donor variant)	Thrombocytopenia 1 +4 more	GPathogenic
Select item 2585095	NM_000377.3(WAS):c.1079dup (p.Pro361fs)	WAS (P361fs)	Duplication (frameshift variant)	Wiskott-Aldrich syndrome	GLikely pathogenic

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