"BMPR1B-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 906579	NM_001203.3(BMPR1B):c.-117T>C	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly +1 more	GBenign
Select item 3055277	NM_001203.3(BMPR1B):c.-17-52679G>A	BMPR1B	Single nucleotide variant (synonymous variant +1 more)	BMPR1B-related condition	GLikely benign
Select item 3035814	NM_001203.3(BMPR1B):c.-17-52674A>G	BMPR1B (H12R)	Single nucleotide variant (missense variant +1 more)	BMPR1B-related condition	GBenign
Select item 3050330	NM_001203.3(BMPR1B):c.-17-52640A>G	BMPR1B	Single nucleotide variant (synonymous variant +1 more)	BMPR1B-related condition	GLikely benign
Select item 2634875	NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)	BMPR1B (R121I +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +2 more	GUncertain significance
Select item 285442	NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	BMPR1B (T97A +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +3 more	GConflicting classifications of pathogenicity
Select item 218545	NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)	BMPR1B (V140I +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +5 more	GBenign/Likely benign
Select item 464044	NM_001203.3(BMPR1B):c.430T>C (p.Leu144=)	BMPR1B	Single nucleotide variant (synonymous variant)	BMPR1B-related condition +2 more	GLikely benign
Select item 350116	NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp)	BMPR1B (R149W +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +4 more	GBenign
Select item 1622077	NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro)	BMPR1B (S175P +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GLikely benign
Select item 350117	NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)	BMPR1B (R224H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +4 more	GConflicting classifications of pathogenicity
Select item 2927199	NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)	BMPR1B (I338V +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 350124	NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	BMPR1B (N369D +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +3 more	GConflicting classifications of pathogenicity
Select item 441001	NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)	BMPR1B (R371Q +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GConflicting classifications of pathogenicity
Select item 6558	NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln)	BMPR1B (R486Q +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition	GLikely pathogenic