| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2S +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene