WSB2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 3190810	NM_018639.5(WSB2):c.1205G>A (p.Arg402Lys)	RFC5, WSB2 (R192K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526708	NM_018639.5(WSB2):c.1082C>G (p.Thr361Arg)	RFC5, WSB2 (T361R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559741	NM_018639.5(WSB2):c.871G>A (p.Val291Ile)	RFC5, WSB2 (V81I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595362	NM_018639.5(WSB2):c.865A>G (p.Ser289Gly)	RFC5, WSB2 (S289G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190814	NM_018639.5(WSB2):c.853G>A (p.Ala285Thr)	RFC5, WSB2 (A285T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333278	NM_018639.5(WSB2):c.785A>G (p.Asn262Ser)	RFC5, WSB2 (N279S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643378	NM_018639.5(WSB2):c.747C>T (p.Pro249=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783674	NM_018639.5(WSB2):c.738C>T (p.Asp246=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2226837	NM_018639.5(WSB2):c.659C>T (p.Ser220Leu)	RFC5, WSB2 (S220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643379	NM_018639.5(WSB2):c.648T>C (p.Ala216=)	RFC5, WSB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475021	NM_018639.5(WSB2):c.538A>G (p.Ile180Val)	WSB2 (I180V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776754	NM_018639.5(WSB2):c.484A>G (p.Thr162Ala)	WSB2 (T162A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2643380	NM_018639.5(WSB2):c.358G>A (p.Asp120Asn)	WSB2 (D120N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2357069	NM_018639.5(WSB2):c.338G>A (p.Arg113His)	WSB2 (R130H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231942	NM_018639.5(WSB2):c.331T>C (p.Trp111Arg)	WSB2 (W128R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362114	NM_018639.5(WSB2):c.317C>A (p.Pro106His)	WSB2 (P106H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190812	NM_018639.5(WSB2):c.287G>C (p.Gly96Ala)	WSB2 (G113A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190811	NM_018639.5(WSB2):c.262C>G (p.Leu88Val)	WSB2 (L105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398387	NM_018639.5(WSB2):c.238C>T (p.Arg80Trp)	WSB2 (R80W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246359	NM_018639.5(WSB2):c.236G>A (p.Gly79Glu)	WSB2 (G79E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529291	NM_018639.5(WSB2):c.64G>C (p.Asp22His)	LOC126861652, WSB2 (D22H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768591	NM_001278557.1(WSB2):c.12C>T (p.Asp4=)	WSB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527740	GRCh37/hg19 12q24.22-24.23(chr12:118014801-118716129)	KSR2, PEBP1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 815561	GRCh37/hg19 12q24.22-24.23(chr12:117858408-118668114)x4	VSIG10, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563947	GRCh37/hg19 12q24.23(chr12:118258061-118726805)x3	RFC5, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 37