"ITMI"[submitter] AND "WAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135408	NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)	WAS (G14R)	Indel (missense variant)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 135409	NM_000377.3(WAS):c.58C>G (p.Gln20Glu)	WAS (Q20E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135412	NM_000377.3(WAS):c.194C>G (p.Thr65Ser)	WAS (T65S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135413	NM_000377.3(WAS):c.391G>A (p.Glu131Lys)	WAS (E131K)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GConflicting classifications of pathogenicity
Select item 135414	NM_000377.3(WAS):c.413G>A (p.Arg138Gln)	WAS (R138Q)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GConflicting classifications of pathogenicity
Select item 36912	NM_000377.3(WAS):c.538C>A (p.His180Asn)	WAS (H180N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135410	NM_000377.3(WAS):c.995T>C (p.Val332Ala)	WAS (V332A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 135411	NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)	WAS (P460S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

ClinVar