| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 23 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Simpson-Golabi-Behmel syndrome type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome I +2 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
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