| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | CHRNE-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Tip-toe gait | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene