| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 +1 more | GConflicting classifications of pathogenicity |
| | IGHMBP2, LOC126861245 (V537E) | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
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