Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CORO7-PAM16, PAM16 (Q74P +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | |
| | CORO7-PAM16, PAM16 (R38G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CORO7-PAM16, PAM16 (N76D +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | |
Click to view in NCBI Gene