| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (inframe_deletion +1 more) | Abortive cerebellar ataxia +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Short stature-brachydactyly-obesity-global developmental delay syndrome +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Acanthosis nigricans +14 more | |
Click to view in NCBI Gene