| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | GPathogenic/Likely pathogenic |
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