"Ambry Genetics"[submitter] AND "BAIAP2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2557754	NM_001144888.2(BAIAP2):c.47T>A (p.Val16Asp)	BAIAP2 (V16D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2461800	NM_001144888.2(BAIAP2):c.330G>T (p.Glu110Asp)	BAIAP2 (E52D +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352170	NM_001144888.2(BAIAP2):c.671C>T (p.Pro224Leu)	BAIAP2 (P166L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355154	NM_001144888.2(BAIAP2):c.754G>A (p.Ala252Thr)	BAIAP2 (A250T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386124	NM_001144888.2(BAIAP2):c.889C>A (p.Pro297Thr)	BAIAP2 (P239T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206750	NM_001144888.2(BAIAP2):c.904G>A (p.Val302Ile)	BAIAP2 (V244I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489188	NM_001144888.2(BAIAP2):c.929A>G (p.Tyr310Cys)	BAIAP2 (Y343C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334201	NM_001144888.2(BAIAP2):c.1058A>G (p.Tyr353Cys)	BAIAP2 (Y275C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389733	NM_001144888.2(BAIAP2):c.1076A>G (p.Lys359Arg)	BAIAP2 (K359R +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530727	NM_001144888.2(BAIAP2):c.1333A>G (p.Met445Val)	BAIAP2 (M443V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493806	NM_001144888.2(BAIAP2):c.1343A>G (p.Gln448Arg)	BAIAP2 (Q205R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2510934	NM_001144888.2(BAIAP2):c.1390C>A (p.Leu464Met)	BAIAP2 (L387M +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547828	NM_001144888.2(BAIAP2):c.1412A>G (p.Tyr471Cys)	BAIAP2 (Y504C +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291983	NM_001144888.2(BAIAP2):c.1427G>A (p.Arg476Gln)	BAIAP2 (R476Q +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222982	NM_001144888.2(BAIAP2):c.1438G>A (p.Ala480Thr)	BAIAP2 (A422T +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2470969	NM_001144888.2(BAIAP2):c.1552G>A (p.Val518Ile)	BAIAP2 (V460I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325537	NM_001144888.2(BAIAP2):c.*434G>C	BAIAP2 (D543H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397626	NM_001144888.2(BAIAP2):c.*446C>T	BAIAP2 (R547C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2370249	NM_001144888.2(BAIAP2):c.*458G>A	BAIAP2 (G584R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance