WSB1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152246	GRCh38/hg38 17q11.1-11.2(chr17:26964783-27583227)x3	LOC130060510, LOC130060511 +30 more	Copy number gain	See cases	GLikely benign
Select item 154626	GRCh38/hg38 17q11.1-11.2(chr17:27016149-27527964)x3	KSR1, LOC105371703 +28 more	Copy number gain	See cases	GUncertain significance
Select item 145064	GRCh38/hg38 17q11.1(chr17:27074747-27331289)x3	LOC105371703, LOC130060504 +8 more	Copy number gain	See cases	GBenign
Select item 2318283	NM_015626.10(WSB1):c.28G>A (p.Glu10Lys)	WSB1 (E10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478112	NM_015626.10(WSB1):c.55A>G (p.Ile19Val)	WSB1 (I19V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190806	NM_015626.10(WSB1):c.91A>G (p.Lys31Glu)	WSB1 (K31E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484159	NM_015626.10(WSB1):c.92A>G (p.Lys31Arg)	WSB1 (K31R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190808	NM_015626.10(WSB1):c.98G>A (p.Cys33Tyr)	WSB1 (C33Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529412	NM_015626.10(WSB1):c.104G>A (p.Arg35His)	WSB1 (R35H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190802	NM_015626.10(WSB1):c.149C>G (p.Ala50Gly)	WSB1 (A50G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190803	NM_015626.10(WSB1):c.211C>G (p.Leu71Val)	WSB1 (L71V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312128	NM_015626.10(WSB1):c.275A>G (p.Asp92Gly)	WSB1 (D92G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190804	NM_015626.10(WSB1):c.290A>G (p.Asn97Ser)	WSB1 (N97S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335355	NM_015626.10(WSB1):c.326T>C (p.Ile109Thr)	WSB1 (I109T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291743	NM_015626.10(WSB1):c.446A>G (p.Asn149Ser)	WSB1 (N149S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408452	NM_015626.10(WSB1):c.452G>A (p.Arg151His)	WSB1 (R151H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190805	NM_015626.10(WSB1):c.479G>T (p.Gly160Val)	WSB1 (G14V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363184	NM_015626.10(WSB1):c.541G>C (p.Asp181His)	WSB1 (D181H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509030	NM_015626.10(WSB1):c.542A>T (p.Asp181Val)	WSB1 (D35V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371882	NM_015626.10(WSB1):c.632G>T (p.Arg211Met)	WSB1 (R211M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552401	NM_015626.10(WSB1):c.677C>T (p.Ser226Phe)	WSB1 (S80F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482544	NM_015626.10(WSB1):c.800A>G (p.Asp267Gly)	WSB1 (D121G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288377	NM_015626.10(WSB1):c.860A>G (p.Asn287Ser)	WSB1 (N287S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252217	NM_015626.10(WSB1):c.934C>T (p.Arg312Trp)	WSB1 (R312W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190807	NM_015626.10(WSB1):c.944G>A (p.Arg315Gln)	WSB1 (R315Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619220	NM_015626.10(WSB1):c.1036G>T (p.Val346Leu)	WSB1 (V308L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233143	NM_015626.10(WSB1):c.1073C>T (p.Ala358Val)	WSB1 (A320V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493054	NM_015626.10(WSB1):c.1079C>A (p.Ser360Tyr)	WSB1 (S214Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2776145	NM_015626.10(WSB1):c.1106+43del	WSB1	Deletion (intron variant)	not provided	GBenign
Select item 2475334	NM_015626.10(WSB1):c.1123G>C (p.Val375Leu)	WSB1 (V229L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598264	NM_015626.10(WSB1):c.1204C>G (p.Gln402Glu)	WSB1 (Q364E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190800	NM_015626.10(WSB1):c.1228C>G (p.Pro410Ala)	WSB1 (P372A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190801	NM_015626.10(WSB1):c.1259G>A (p.Arg420His)	WSB1 (R382H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1340451	GRCh37/hg19 17q11.1-11.2(chr17:25439781-26267997)x3	KSR1, LGALS9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564422	GRCh37/hg19 17q11.1-11.2(chr17:25309449-25893476)x3	WSB1, KSR1	Copy number gain	not provided	GUncertain significance
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 442868	GRCh37/hg19 17q11.1-11.2(chr17:25270397-25874582)x3	KSR1, WSB1	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441603	GRCh37/hg19 17q11.1-11.2(chr17:25270398-26075070)x3	KSR1, LGALS9 +1 more	Copy number gain	See cases	GLikely benign
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance

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Items: 46