Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr16:55525820
- GRCh38:
- Chr16:55491908
| MMP2 | N354fs, N380fs, N430fs | Multicentric osteolysis, nodulosis, and arthropathy | Pathogenic
(Mar 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:55525819
- GRCh38:
- Chr16:55491907
| MMP2 | N380fs, N354fs, N430fs | Multicentric osteolysis, nodulosis, and arthropathy, not provided, Multicentric osteolysis nodulosis arthropathy spectrum
| Pathogenic
(Mar 25, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:55519589
- GRCh38:
- Chr16:55485677
| MMP2 | Y244*, Y168*, Y194* | Multicentric osteolysis, nodulosis, and arthropathy, not provided, Multicentric osteolysis nodulosis arthropathy spectrum
| Pathogenic
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |