| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | BMPR1B-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | BMPR1B-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | BMPR1B-related condition | |
| | | Single nucleotide variant (missense variant) | BMPR1B-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BMPR1B-related condition +5 more | |
| | | Single nucleotide variant (synonymous variant) | BMPR1B-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +2 more | |
| | | Single nucleotide variant (missense variant) | BMPR1B-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BMPR1B-related condition | |
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