MT-TL1

Clinically classified variants

8 reference-table entries with clinical significance.

• rs199474661Likely pathogenicsingle nucleotide variantMitochondrial encephalomyopathy|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
• rs199474657Pathogenicsingle nucleotide variantJuvenile myopathy, encephalopathy, lactic acidosis AND stroke|Muscle stiffness, painful|Cyclical vomiting syndrome|Age related macular degeneration 2|Cytochrome-c oxidase deficiency disease|3-methylglutaconic aciduria type 1|MERRF/MELAS overlap syndrome|Diabetes-deafness syndrome maternally transmitted|Leigh syndrome|Mitochondrial disease|Glucose intolerance|Stroke|Sensorineural hearing loss disorder|Short stature|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|MERRF syndrome|Cerebral palsy|Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1|See cases
• rs199474658Pathogenicsingle nucleotide variantJuvenile myopathy, encephalopathy, lactic acidosis AND stroke|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|MERRF syndrome
• rs199474660Pathogenicsingle nucleotide variantCardiomyopathy with or without skeletal myopathy|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
• rs199474662Pathogenicsingle nucleotide variantProgressive external ophthalmoplegia, proximal myopathy, and sudden death|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
• rs199474663Pathogenicsingle nucleotide variantCardiomyopathy with or without skeletal myopathy|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
• rs199474667Pathogenicsingle nucleotide variantKearns-Sayre syndrome
• rs199474664Uncertain significancesingle nucleotide variantSkeletal myopathy, responsive to riboflavin|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Public references

• Ensembl
• ClinVar