Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr17:5337001-5337003
- GRCh38:
- Chr17:5433681-5433683
| C1QBP | Y188del | not provided | Conflicting interpretations of pathogenicity
(Mar 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:5336361
- GRCh38:
- Chr17:5433041
| C1QBP | L275F | Combined oxidative phosphorylation deficiency 33 | Pathogenic
(Aug 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:5336445
- GRCh38:
- Chr17:5433125
| C1QBP | G247W | Combined oxidative phosphorylation deficiency 33 | Pathogenic
(Oct 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr17:5336360
- GRCh38:
- Chr17:5433040
| C1QBP | L275P | Combined oxidative phosphorylation deficiency 33 | Pathogenic
(Aug 16, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:5336700
- GRCh38:
- Chr17:5433380
| C1QBP | F204L | not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:5337008
- GRCh38:
- Chr17:5433688
| C1QBP | C186S | not provided | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |