| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome I +3 more | |
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