Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:80407125
- GRCh38:
- Chr17:82449249
| CYBC1 | Y2* | Granulomatous disease, chronic, autosomal recessive, 5 | Pathogenic
(Jul 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr17:80405456
- GRCh38:
- Chr17:82447580
| CYBC1 | D43N | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |