Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr8:145150013
- GRCh38:
- Chr8:144095110
| CYC1 | A4V | Mitochondrial complex III deficiency nuclear type 6, not provided | Uncertain significance
(Apr 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145151666-145151667
- GRCh38:
- Chr8:144096763-144096764
| CYC1 | | not provided, Mitochondrial complex III deficiency nuclear type 6 | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145150832
- GRCh38:
- Chr8:144095929
| CYC1 | M76V | Mitochondrial complex III deficiency nuclear type 6, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145152210
- GRCh38:
- Chr8:144097307
| CYC1 | R317W | Mitochondrial complex III deficiency nuclear type 6 | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr8:145152044
- GRCh38:
- Chr8:144097141
| CYC1 | | Mitochondrial complex III deficiency nuclear type 6, not specified, not provided
| Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145150101
- GRCh38:
- Chr8:144095198
| CYC1 | | not specified, Mitochondrial complex III deficiency nuclear type 6, not provided
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:145151518
- GRCh38:
- Chr8:144096615
| CYC1 | L215F | not provided | Pathogenic
(Feb 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145150894
- GRCh38:
- Chr8:144095991
| CYC1 | W96C | Mitochondrial complex III deficiency nuclear type 6 | Pathogenic
(Aug 8, 2013) | no assertion criteria provided |