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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 1265197	NC_000023.11:g.48683512T>C	WAS	Single nucleotide variant	not provided	GBenign
Select item 419588	NM_000377.3(WAS):c.19G>T (p.Gly7Ter)	WAS (G7*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817607	NM_000377.3(WAS):c.23del (p.Gly8fs)	WAS (G8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 528222	NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	WAS (E31K)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +3 more	GPathogenic/Likely pathogenic
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 1203827	NM_000377.3(WAS):c.151G>T (p.Val51Phe)	WAS (V51F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 451446	NM_000377.3(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro)	WAS	Indel (inframe_indel)	not provided	GLikely pathogenic
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 1360224	NM_000377.3(WAS):c.176del (p.Pro59fs)	WAS (P59fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 420291	NM_000377.3(WAS):c.173C>A (p.Pro58His)	WAS (P58H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 265289	NM_000377.3(WAS):c.223G>A (p.Val75Met)	WAS (V75M)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 424355	NM_000377.3(WAS):c.249C>A (p.Tyr83Ter)	WAS (Y83*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 419739	NM_000377.3(WAS):c.273+1G>A	WAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 255964	NM_000377.3(WAS):c.273+11dup	WAS	Duplication (intron variant)	Thrombocytopenia 1 +4 more	GBenign/Likely benign
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 3340620	NM_000377.3(WAS):c.291G>A (p.Trp97Ter)	WAS (W97*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 508428	NM_000377.3(WAS):c.351C>T (p.Phe117=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 more	GLikely benign
Select item 381690	NM_000377.3(WAS):c.360+1G>A	WAS	Single nucleotide variant (splice donor variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 379705	NM_000377.3(WAS):c.360+1G>T	WAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 426548	NM_000377.3(WAS):c.390del (p.Asp130fs)	WAS (D130fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 279917	NM_000377.3(WAS):c.466_469del	WAS	Microsatellite (splice acceptor variant)	Thrombocytopenia 1 +1 more	GPathogenic
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 372545	NM_000377.3(WAS):c.559+5G>A	WAS	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 265290	NM_000377.3(WAS):c.559+5G>C	WAS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1253199	NM_000377.3(WAS):c.559+127A>G	WAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201318	NM_000377.3(WAS):c.560-175A>G	WAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 372546	NM_000377.3(WAS):c.777+1G>A	WAS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 449116	NM_000377.3(WAS):c.778-6G>A	WAS	Single nucleotide variant (intron 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)	Wiskott-Aldrich syndrome +3 more	GPathogenic
Select item 1303154	NM_000377.3(WAS):c.993T>G (p.Ile331Met)	WAS (I331M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 449516	NM_000377.3(WAS):c.1058del (p.Pro353fs)	WAS (P353fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 954359	NM_000377.3(WAS):c.1112C>T (p.Pro371Leu)	WAS (P371L)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GUncertain significance
Select item 280093	NM_000377.3(WAS):c.1157dup (p.Gly387fs)	WAS (G387fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 373820	NM_000377.3(WAS):c.1183_1190dup (p.Pro398fs)	WAS (P398fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 390196	NM_000377.3(WAS):c.1200G>A (p.Pro400=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 more	GBenign/Likely benign
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 418540	NM_000377.3(WAS):c.1219_1235dup (p.Pro413fs)	WAS (P413fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1313205	NM_000377.3(WAS):c.1364C>T (p.Ala455Val)	WAS (A455V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135411	NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)	WAS (P460S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 418541	NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	WAS (D485N)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GPathogenic
Select item 1276805	NM_000377.3(WAS):c.1453+268=	WAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215349	NM_000377.3(WAS):c.1454-267A>T	WAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2279730	NM_000377.3(WAS):c.1466A>G (p.Asp489Gly)	WAS (D489G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1204676	NM_000377.3(WAS):c.1494_1500delinsAGATGAA (p.Asp498_Trp500delinsGluAspGlu)	WAS	Indel (missense variant)	not provided	GLikely pathogenic
Select item 253869	GRCh37/hg19 Xp11.23(chrX:48336513-48554390)x2	EBP, FTSJ1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67