"Genetic Services Laboratory, University of Chicago"[submitter] AND "W - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458506	NM_000377.3(WAS):c.90C>T (p.His30=)	WAS	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1338374	NM_000377.3(WAS):c.192G>A (p.Trp64Ter)	WAS (W64*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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 196259	NM_000377.3(WAS):c.285G>A (p.Leu95=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1338049	NM_000377.3(WAS):c.407_408delinsTT (p.Ala136Val)	WAS (A136V)	Indel (missense variant)	not specified	GUncertain significance
Select item 1153131	NM_000377.3(WAS):c.470G>A (p.Arg157His)	WAS (R157H)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 36912	NM_000377.3(WAS):c.538C>A (p.His180Asn)	WAS (H180N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1338181	NM_000377.3(WAS):c.548G>A (p.Gly183Glu)	WAS (G183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 255965	NM_000377.3(WAS):c.873C>T (p.Tyr291=)	WAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 29967	NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	WAS (I294T)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +4 more	GPathogenic/Likely pathogenic
Select item 135410	NM_000377.3(WAS):c.995T>C (p.Val332Ala)	WAS (V332A)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +4 more	GBenign/Likely benign
Select item 437265	NM_000377.3(WAS):c.1080A>C (p.Pro360=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1336214	NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)	WAS (P384S)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +4 more	GConflicting classifications of pathogenicity
Select item 698465	NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)	WAS (P394L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GConflicting classifications of pathogenicity
Select item 437266	NM_000377.3(WAS):c.1188A>C (p.Pro396=)	WAS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 437267	NM_000377.3(WAS):c.1191G>C (p.Pro397=)	WAS	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 390196	NM_000377.3(WAS):c.1200G>A (p.Pro400=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +3 more	GBenign/Likely benign
Select item 833892	NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)	WAS (A418S)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +2 more	GBenign
Select item 1336663	NM_000377.3(WAS):c.1267G>C (p.Gly423Arg)	WAS (G423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 695873	NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)	WAS (A426S)	Single nucleotide variant (missense variant)	WAS-related disorder +4 more	GBenign/Likely benign
Select item 212587	NM_000377.3(WAS):c.1299G>A (p.Ala433=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 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

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Items: 22