| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Blepharophimosis - intellectual disability syndrome, MKB type | |
| | | Deletion (inframe_deletion) | FG syndrome +2 more | |
| | | Microsatellite (inframe_insertion) | FG syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Blepharophimosis - intellectual disability syndrome, MKB type | |
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