Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr15:91489983-91489984
- GRCh38:
- Chr15:90946753-90946754
| UNC45A | A302L, A432L, A447L | Increased susceptibility to fractures, Diarrhea, UNC45A-associated Cholestasis,
Impaired Hearing | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:91485689
- GRCh38:
- Chr15:90942459
| UNC45A | L222P, L237P, L92P | Increased susceptibility to fractures, Diarrhea, UNC45A-associated Cholestasis,
Impaired Hearing | Uncertain significance
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150769360
- GRCh38:
- Chr1:150796884
| CTSK | W302* | not provided | Pathogenic
(Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48274370
- GRCh38:
- Chr17:50197009
| COL1A1, LOC126862586 | | Osteogenesis imperfecta with normal sclerae, dominant form, Osteopenia, Blue sclerae,
Increased susceptibility to fractures | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:94038679
- GRCh38:
- Chr7:94409367
| COL1A2 | G280S | Osteogenesis imperfecta type I, Ehlers-Danlos syndrome, classic type, 1, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2,
not provided, Osteogenesis imperfecta, Increased susceptibility to fractures
| Pathogenic
(Oct 3, 2023) | criteria provided, multiple submitters, no conflicts |