| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | GConflicting classifications of pathogenicity |
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