| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | FIG4-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SOD1-related disorder +3 more | GConflicting classifications of pathogenicity |
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