"Ambry Genetics"[submitter] AND "BMP2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 850711	NM_001200.4(BMP2):c.16C>T (p.Arg6Cys)	BMP2 (R6C)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 2542837	NM_001200.4(BMP2):c.130C>G (p.Gln44Glu)	BMP2 (Q44E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361086	NM_001200.4(BMP2):c.136T>A (p.Ser46Thr)	BMP2 (S46T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2388682	NM_001200.4(BMP2):c.175A>G (p.Ser59Gly)	BMP2 (S59G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134514	NM_001200.4(BMP2):c.197G>A (p.Arg66Lys)	BMP2 (R66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985607	NM_001200.4(BMP2):c.235A>G (p.Met79Val)	BMP2 (M79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134515	NM_001200.4(BMP2):c.302G>A (p.Arg101Lys)	BMP2 (R101K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2903762	NM_001200.4(BMP2):c.326T>C (p.Val109Ala)	BMP2 (V109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 598369	NM_001200.4(BMP2):c.370A>G (p.Thr124Ala)	BMP2 (T124A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3134516	NM_001200.4(BMP2):c.496A>G (p.Ser166Gly)	BMP2 (S166G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134517	NM_001200.4(BMP2):c.517A>G (p.Ile173Val)	BMP2 (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176206	NM_001200.4(BMP2):c.556T>C (p.Phe186Leu)	BMP2 (F186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1920222	NM_001200.4(BMP2):c.644G>A (p.Arg215Gln)	BMP2 (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1051993	NM_001200.4(BMP2):c.662A>G (p.His221Arg)	BMP2 (H221R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2489688	NM_001200.4(BMP2):c.682G>T (p.Val228Leu)	BMP2 (V228L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2128172	NM_001200.4(BMP2):c.705G>C (p.Glu235Asp)	BMP2 (E235D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2481275	NM_001200.4(BMP2):c.787T>A (p.Leu263Met)	BMP2 (L263M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439532	NM_001200.4(BMP2):c.788T>C (p.Leu263Ser)	BMP2 (L263S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2205596	NM_001200.4(BMP2):c.1030A>G (p.Ile344Val)	BMP2 (I344V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2557323	NM_001200.4(BMP2):c.1054G>T (p.Val352Phe)	BMP2 (V352F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986057	NM_001200.4(BMP2):c.1190A>C (p.Ter397Ser)	BMP2	Single nucleotide variant (stop lost)	Inborn genetic diseases	GUncertain significance

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Items: 21