"Ambry Genetics"[submitter] AND "WSB2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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