| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Ritscher-Schinzel syndrome 1 | |
| | LOC126860498, WASHC5 (R1065* +1 more) | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 47 | |
| | WASHC5, WASHC5-AS1 (Q741E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (T756I +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (I800V +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (C1110R +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (W1073R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (V885A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | WASHC5, WASHC5-AS1 (F891V +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (D1069E +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (L945V +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | WASHC5, WASHC5-AS1 (S784T +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | WASHC5, WASHC5-AS1 (N779S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | WASHC5, LOC126860498 (P1070fs +1 more) | Deletion (frameshift variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | WASHC5, WASHC5-AS1 (E798K +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | LOC126860498, WASHC5 (D921N +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (D1072N +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (M735V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (Q865fs +1 more) | Deletion (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (L731I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (P922L +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (L764F +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (S710G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | WASHC5, WASHC5-AS1 (T708A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | WASHC5-AS1, WASHC5 (R711H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | LOC126860498, WASHC5 (T1106M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (M801T +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (M701V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (T920S +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (M836V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +2 more | GConflicting classifications of pathogenicity |
| | WASHC5, WASHC5-AS1 (Q758E +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +2 more | |
| | LOC126860498, WASHC5 (H1088fs +1 more) | Duplication (frameshift variant) | not specified | |
| | WASHC5, WASHC5-AS1 (D700H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC126860498, WASHC5 (V1063L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | Lower limb spasticity | |
| | WASHC5, WASHC5-AS1 (D693H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (S1112N +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (K950R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 +1 more | |
| | WASHC5, WASHC5-AS1 (T697A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscle weakness | |
| | WASHC5, WASHC5-AS1 (P770S +1 more) | Single nucleotide variant (missense variant) | Spastic paraplegia +3 more | |
| | WASHC5, WASHC5-AS1 (F734Y +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (intron variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | WASHC5, WASHC5-AS1 (L876S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | WASHC5, WASHC5-AS1 (Y782S +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (C962Y +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC126860498, WASHC5 (R1090Q +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | WASHC5, WASHC5-AS1 (F882V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Insertion (intron variant) | Ritscher-Schinzel syndrome +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (P1067L +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +5 more | |
| | WASHC5, WASHC5-AS1 (R859C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | |
| | WASHC5, LOC126860498 (I1099T +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +4 more | |