| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy with cataracts and intellectual disability | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital muscular dystrophy with cataracts and intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Chromosome 17P13.3, telomeric, duplication syndrome | |
Click to view in NCBI Gene