| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | BPNT2, LOC130000433 (V15L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Chondrodysplasia with joint dislocations, gPAPP type +1 more | |
Click to view in NCBI Gene