| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (splice donor variant) | Neuronopathy, distal hereditary motor, autosomal recessive 5 | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +4 more | |
Click to view in NCBI Gene