"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "WAS"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380921	NM_000377.3(WAS):c.172C>T (p.Pro58Ser)	WAS (P58S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 11122	NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	WAS (S82P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 656066	NM_000377.3(WAS):c.266G>A (p.Gly89Asp)	WAS (G89D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1163778	NM_000377.3(WAS):c.340T>A (p.Phe114Ile)	WAS (F114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380741	NM_000377.3(WAS):c.818G>T (p.Arg273Met)	WAS (R273M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992234	NM_000377.3(WAS):c.869T>C (p.Ile290Thr)	WAS (I290T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 998525	NM_000377.3(WAS):c.925C>T (p.Arg309Cys)	WAS (R309C)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +3 more	GUncertain significance
Select item 2182880	NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)	WAS	Microsatellite (inframe_indel +1 more)	not provided +3 more	GUncertain significance
Select item 444802	NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)	WAS (P403L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +4 more	GUncertain significance
Select item 3380922	NM_000377.3(WAS):c.1453+2T>C	WAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic