Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr16:4391373
- GRCh38:
- Chr16:4341372
| CORO7-PAM16, PAM16 | Q74P, Q997P | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | Pathogenic
(Jul 22, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:4391482
- GRCh38:
- Chr16:4341481
| CORO7-PAM16, PAM16 | R38G, R961G | not provided | Uncertain significance
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:4390986
- GRCh38:
- Chr16:4340985
| CORO7-PAM16, PAM16 | N76D, N999D | Autosomal recessive spondylometaphyseal dysplasia, Megarbane type | Pathogenic
(May 1, 2014) | no assertion criteria provided |