| | | Indel (intron variant) | Ritscher-Schinzel syndrome 1 | |
| | WASHC5, LOC126860498 (P1070fs +1 more) | Deletion (frameshift variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 | |
| | | Indel (intron variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +2 more | |
| | WASHC5, WASHC5-AS1 (K950R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dandy-Walker syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ritscher-Schinzel syndrome 1 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ritscher-Schinzel syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | WASHC5-related condition +6 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +3 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Ritscher-Schinzel syndrome 1 | |