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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11120	NM_000377.3(WAS):c.1A>T (p.Met1Leu)	WAS (M1L)	Single nucleotide variant (missense variant +1 more)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11132	NM_000377.3(WAS):c.11del (p.Gly4fs)	WAS (G4fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 11133	NM_000377.3(WAS):c.73_74del (p.Thr25fs)	WAS (T25fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11119	NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	WAS (R34*)	Single nucleotide variant (nonsense)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 11123	NM_000377.3(WAS):c.134C>T (p.Thr45Met)	WAS (T45M)	Single nucleotide variant (missense variant)	Thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 11116	NM_000377.3(WAS):c.167C>T (p.Ala56Val)	WAS (A56V)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 11126	NM_000377.3(WAS):c.173C>G (p.Pro58Arg)	WAS (P58R)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, intermittent	GPathogenic
Select item 11113	NM_000377.3(WAS):c.177del (p.Gly60fs)	WAS (G60fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome	GPathogenic
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 11115	NM_000377.3(WAS):c.257G>A (p.Arg86His)	WAS (R86H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 11114	NM_000377.3(WAS):c.257G>T (p.Arg86Leu)	WAS (R86L)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11121	NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3])	WAS	Microsatellite (inframe_insertion)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11118	NM_000377.3(WAS):c.482dup (p.Pro162fs)	WAS (P162fs)	Duplication (frameshift variant)	Thrombocytopenia 1	GPathogenic
Select item 11131	NM_000377.3(WAS):c.559+2T>G	WAS	Single nucleotide variant (splice donor variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 372545	NM_000377.3(WAS):c.559+5G>A	WAS	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 11130	NM_000377.3(WAS):c.560-1G>A	WAS	Single nucleotide variant (splice acceptor variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11117	NM_000377.3(WAS):c.707C>G (p.Ala236Gly)	WAS (A236G)	Single nucleotide variant (missense variant)	Thrombocytopenia 1	GPathogenic
Select item 1076500	NM_000377.3(WAS):c.723del (p.Ser242fs)	WAS (S242fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1200930	NM_000377.3(WAS):c.724del (p.Ser242fs)	WAS (S242fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 11125	NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	WAS (L270P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 29966	NM_000377.3(WAS):c.814T>C (p.Ser272Pro)	WAS (S272P)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 29967	NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	WAS (I294T)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 11124	NM_000377.3(WAS):c.1097del (p.Gly366fs)	WAS (G366fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 11127	NM_000377.3(WAS):c.1442T>A (p.Ile481Asn)	WAS (I481N)	Single nucleotide variant (missense variant)	Thrombocytopenia, X-linked, intermittent	GPathogenic
Select item 11128	WAS, 15,800-BP DEL	WAS	Deletion	Wiskott-Aldrich syndrome	GPathogenic

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Items: 25