| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | WASHC5-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 | |
| | WASHC5, WASHC5-AS1 (L876S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
Click to view in NCBI Gene