C1839163[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843981	NM_000377.3(WAS):c.35dup (p.Arg13fs)	WAS (R13fs)	Duplication (frameshift variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 36911	NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	WAS (R13*)	Single nucleotide variant (nonsense)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 11123	NM_000377.3(WAS):c.134C>T (p.Thr45Met)	WAS (T45M)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +4 more	GPathogenic
Select item 947482	NM_000377.3(WAS):c.164T>C (p.Leu55Pro)	WAS (L55P)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GUncertain significance
Select item 265289	NM_000377.3(WAS):c.223G>A (p.Val75Met)	WAS (V75M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2501070	NM_000377.3(WAS):c.256del (p.Arg86fs)	WAS (R86fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic/Likely pathogenic
Select item 936334	NM_000377.3(WAS):c.256C>T (p.Arg86Cys)	WAS (R86C)	Single nucleotide variant (missense variant)	WAS-related condition +3 more	GPathogenic
Select item 11115	NM_000377.3(WAS):c.257G>A (p.Arg86His)	WAS (R86H)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +3 more	GPathogenic
Select item 36909	NM_000377.3(WAS):c.273+10_273+11dup	WAS	Duplication (intron variant)	X-linked severe congenital neutropenia +4 more	GBenign/Likely benign
Select item 1616093	NM_000377.3(WAS):c.273+15C>T	WAS	Single nucleotide variant (intron variant)	X-linked severe congenital neutropenia +3 more	GLikely benign
Select item 381690	NM_000377.3(WAS):c.360+1G>A	WAS	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 697928	NM_000377.3(WAS):c.390C>T (p.Asp130=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +3 more	GLikely benign
Select item 495847	NM_000377.3(WAS):c.413G>C (p.Arg138Pro)	WAS (R138P)	Single nucleotide variant (missense variant)	Thrombocytopenia 1	GPathogenic
Select item 36912	NM_000377.3(WAS):c.538C>A (p.His180Asn)	WAS (H180N)	Single nucleotide variant (missense variant)	WAS-related condition +5 more	GConflicting classifications of pathogenicity
Select item 372545	NM_000377.3(WAS):c.559+5G>A	WAS	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 372546	NM_000377.3(WAS):c.777+1G>A	WAS	Single nucleotide variant (splice donor variant)	Wiskott-Aldrich syndrome +3 more	GPathogenic
Select item 449515	NM_000377.3(WAS):c.961C>T (p.Arg321Ter)	WAS (R321*)	Single nucleotide variant (nonsense)	X-linked severe congenital neutropenia +3 more	GPathogenic
Select item 977729	NM_000377.3(WAS):c.1157del (p.Pro386fs)	WAS (P386fs)	Deletion (frameshift variant)	X-linked severe congenital neutropenia +2 more	GPathogenic/Likely pathogenic
Select item 36908	NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del)	WAS	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 495844	NM_000377.3(WAS):c.1271dup (p.Leu425fs)	WAS (L425fs)	Duplication (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 418541	NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	WAS (D485N)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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Items: 21