Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | |
| | | Single nucleotide variant (missense variant +1 more) | Welander distal myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene