Links from MedGen
Items: 12
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:54671685
- GRCh38:
- Chr17:56594324
| NOG | R34P | Proximal symphalangism 1A | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr17:54672138
- GRCh38:
- Chr17:56594777
| NOG | S185C | Proximal symphalangism 1A | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:54672183
- GRCh38:
- Chr17:56594822
| NOG | L200P | Proximal symphalangism 1A | Likely pathogenic
(Mar 26, 2018) | 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:
- Chr17:54671687
- 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 |
| - GRCh37:
- Chr17:54671970
- GRCh38:
- Chr17:56594609
| NOG | L129* | Proximal symphalangism 1A | Pathogenic
(Dec 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr17:54672135
- GRCh38:
- Chr17:56594774
| NOG | C184Y | Proximal symphalangism 1A | Pathogenic
(Dec 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr17:54671688
- GRCh38:
- Chr17:56594327
| NOG | P35R | not provided, Proximal symphalangism 1A | Pathogenic
(Nov 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:54672149
- GRCh38:
- Chr17:56594788
| NOG | G189C | Proximal symphalangism 1A | Pathogenic
(Mar 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr17:54672252
- GRCh38:
- Chr17:56594891
| NOG | P223L | Proximal symphalangism 1A | Pathogenic
(Mar 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr17:54672248
- GRCh38:
- Chr17:56594887
| NOG | Y222D | Proximal symphalangism 1A | Pathogenic
(Mar 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr17:54672249
- GRCh38:
- Chr17:56594888
| NOG | Y222C | not provided | Likely pathogenic
(May 16, 2022) | criteria provided, single submitter |