Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrMT:1661
- GRCh38:
- ChrMT:1661
| MT-TV | | not specified | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3243
- GRCh38:
- ChrMT:3243
| MT-TL1 | | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1, Stroke, Sensorineural hearing impairment,
Glucose intolerance, Short stature, not specified,
not provided, Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke,
MERRF syndrome, Juvenile myopathy, encephalopathy, lactic acidosis AND strokeDiabetes-deafness syndrome maternally transmitted,
Cerebral palsy, See cases, ...see more | Pathogenic/Likely pathogenic
(Aug 14, 2023) | criteria provided, multiple submitters, no conflicts |