| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +3 more | |
| | | Deletion (frameshift variant +1 more) | Orofaciodigital syndrome I +5 more | |
| | | Deletion (inframe_deletion) | Simpson-Golabi-Behmel syndrome type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +5 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I | |
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