Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:128890350
- GRCh38:
- Chr3:129171507
| CNBP | D45E, D52E | Myotonic dystrophy type 2 | Uncertain significance
(Jul 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:128890350
- GRCh38:
- Chr3:129171507
| CNBP | | Myotonic dystrophy type 2, not provided | Benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:128891444-128891447
- GRCh38:
- Chr3:129172601-129172604
| CNBP, LOC108644431 | | Myotonic dystrophy type 2 | Pathogenic
(Feb 1, 2008) | no assertion criteria provided |