| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 12 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | MAF, WWOX (N265del +1 more) | Microsatellite (inframe_deletion) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental delay | |
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