"Ambry Genetics"[submitter] AND "BMPR1B"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043555	NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	BMPR1B (A36T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GConflicting classifications of pathogenicity
Select item 2338263	NM_001203.3(BMPR1B):c.38C>T (p.Thr13Ile)	BMPR1B (T43I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512018	NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	BMPR1B (K15E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2493445	NM_001203.3(BMPR1B):c.88T>G (p.Leu30Val)	BMPR1B (L30V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 663972	NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	BMPR1B (T114I +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
Select item 2618745	NM_001203.3(BMPR1B):c.360T>G (p.Asp120Glu)	BMPR1B (D120E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011960	NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr)	BMPR1B (S131T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2555653	NM_001203.3(BMPR1B):c.428T>C (p.Ile143Thr)	BMPR1B (I173T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525247	NM_001203.3(BMPR1B):c.509T>G (p.Ile170Ser)	BMPR1B (I170S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205369	NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)	BMPR1B (L194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2142200	NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)	BMPR1B (M236V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2253874	NM_001203.3(BMPR1B):c.736G>A (p.Glu246Lys)	BMPR1B (E246K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510704	NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu)	BMPR1B (Q249L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 418063	NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp)	BMPR1B (N257D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1357550	NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)	BMPR1B (A298T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1551029	NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	BMPR1B (K299R +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
Select item 2514384	NM_001203.3(BMPR1B):c.991C>G (p.Arg331Gly)	BMPR1B (R331G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474619	NM_001203.3(BMPR1B):c.1090G>A (p.Val364Ile)	BMPR1B (V364I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280614	NM_001203.3(BMPR1B):c.1096A>T (p.Ile366Leu)	BMPR1B (I396L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230970	NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)	BMPR1B (M466L +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 1897977	NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)	BMPR1B (G467A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2617340	NM_001203.3(BMPR1B):c.1471C>T (p.Leu491Phe)	BMPR1B (L521F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278650	NM_001203.3(BMPR1B):c.1501A>G (p.Lys501Glu)	BMPR1B (K501E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23