| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
| | B3GALNT2, TBCE (L333del +2 more) | Microsatellite (inframe_deletion) | Encephalopathy, progressive, with amyotrophy and optic atrophy | |
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