| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Buratti-Harel syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Buratti-Harel syndrome | |
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