| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | SLC5A7-related condition +2 more | |
| | | Deletion (frameshift variant) | SLC5A7-related condition | |
Click to view in NCBI Gene