| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +10 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 7 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene