Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:166780346
- GRCh38:
- Chr6:166366858
| MPC1 | P37S | Mitochondrial pyruvate carrier deficiency | Likely pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:166779477
- GRCh38:
- Chr6:166365989
| MPC1 | R54Q, R97Q | Mitochondrial pyruvate carrier deficiency | Likely pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:166779559
- GRCh38:
- Chr6:166366071
| MPC1 | A27T, A70T | Mitochondrial pyruvate carrier deficiency | Likely pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:166779547
- GRCh38:
- Chr6:166366059
| MPC1 | Q74K, Q31K | Mitochondrial pyruvate carrier deficiency | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:166779553
- GRCh38:
- Chr6:166366065
| MPC1 | K72E, K29E | Mitochondrial pyruvate carrier deficiency | Likely pathogenic
(Nov 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:166779531
- GRCh38:
- Chr6:166366043
| MPC1 | L79H, L36H | Mitochondrial pyruvate carrier deficiency | Pathogenic
(Jul 6, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr6:166779478
- GRCh38:
- Chr6:166365990
| MPC1 | R97W, R54W | Mitochondrial pyruvate carrier deficiency | Pathogenic
(Jul 6, 2012) | no assertion criteria provided |