| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
| | | Deletion (frameshift variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder +5 more | GPathogenic/Likely pathogenic |
| | IGHMBP2, LOC126861245 (E514K) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2S +3 more | |
Click to view in NCBI Gene