| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Roussy-Lévy syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Myopathy +3 more | |
| | | Copy number loss | Steppage gait +3 more | |
Click to view in NCBI Gene