| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease X-linked dominant 1 +4 more | |
| | LOC130001681, SIGMAR1 (Q2P) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive distal spinal muscular atrophy 2 +2 more | |
Click to view in NCBI Gene