| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2S +4 more | |
| | | Deletion | Autosomal recessive distal spinal muscular atrophy 1 | |
| | | Single nucleotide variant (splice donor variant) | Peripheral neuropathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2S +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2S | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
| | IGHMBP2, LOC126861245 (E514K) | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene