Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:54290100-54844894
| ANKFN1, NOG | | Stapes ankylosis with broad thumbs and toes | Pathogenic
(Oct 18, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr17:54672195
- GRCh38:
- Chr17:56594834
| NOG | R204Q | not provided, Tarsal-carpal coalition syndrome | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:54671830-54671831
- GRCh38:
- Chr17:56594469-56594470
| NOG | E85fs | Stapes ankylosis with broad thumbs and toes | Pathogenic
(Sep 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr17:54671912
- GRCh38:
- Chr17:56594551
| NOG | Q110* | not provided | Pathogenic
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:54671687
- GRCh38:
- Chr17:56594326
| NOG | P35S | Proximal symphalangism 1A, Brachydactyly type B2, Stapes ankylosis with broad thumbs and toes
| Pathogenic
(Jul 1, 2008) | no assertion criteria provided |