| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | BSCL2, HNRNPUL2-BSCL2 (S90L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Abnormal central motor function +2 more | GPathogenic/Likely pathogenic |
| | BSCL2, HNRNPUL2-BSCL2 (N88S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Neuronopathy, distal hereditary motor, type 5C +8 more | |
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