"Ambry Genetics"[submitter] AND "BZW2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2214910	NM_014038.3(BZW2):c.38G>A (p.Arg13Gln)	BZW2 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615084	NM_014038.3(BZW2):c.284A>G (p.Asn95Ser)	BZW2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281448	NM_014038.3(BZW2):c.311A>G (p.Asp104Gly)	BZW2 (D104G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135648	NM_014038.3(BZW2):c.380A>G (p.Lys127Arg)	BZW2 (K127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619431	NM_014038.3(BZW2):c.410T>C (p.Leu137Pro)	BZW2 (L137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135649	NM_014038.3(BZW2):c.435A>C (p.Glu145Asp)	BZW2 (E145D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262358	NM_014038.3(BZW2):c.488C>T (p.Thr163Ile)	BZW2 (T163I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488253	NM_014038.3(BZW2):c.496G>A (p.Ala166Thr)	BZW2 (A166T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135650	NM_014038.3(BZW2):c.664G>A (p.Val222Ile)	BZW2 (V222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276962	NM_014038.3(BZW2):c.668A>T (p.Asn223Ile)	BZW2 (N223I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262359	NM_014038.3(BZW2):c.748C>A (p.Gln250Lys)	BZW2 (Q250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135651	NM_014038.3(BZW2):c.789G>T (p.Gln263His)	BZW2 (Q69H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135653	NM_014038.3(BZW2):c.803A>G (p.Gln268Arg)	BZW2 (Q74R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135654	NM_014038.3(BZW2):c.860A>T (p.Asp287Val)	BZW2 (D287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607748	NM_014038.3(BZW2):c.905T>C (p.Met302Thr)	BZW2 (M302T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance