| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | WASHC5, WASHC5-AS1 (E798K +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene