| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001243, LOC130001244 +1204 more | Copy number gain | See cases | |
| | LOC130001328, LOC130001329 +1067 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC114827840, LOC121331310 +961 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | FER1L6-AS2, LINC00964 +78 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390060, LOC129929031 +745 more | Copy number gain | See cases | |
| | LINC00964, LOC105375742 +29 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Deletion (3 prime UTR variant) | Spastic paraplegia, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 8 | |
| | | Deletion (3 prime UTR variant) | Spastic paraplegia, autosomal dominant | |
| | | Deletion (3 prime UTR variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 8 | |
| | | Microsatellite (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Spastic paraplegia, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ritscher-Schinzel syndrome 1 | |
| | LOC126860498, WASHC5 (S1112N +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (C962Y +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (C1110R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (V1107M +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +4 more | |
| | LOC126860498, WASHC5 (T1106M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860498, WASHC5 (I1099T +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | LOC126860498, WASHC5 (R1090Q +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (H1088fs +1 more) | Duplication (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | WASHC5-related condition +6 more | |
| | LOC126860498, WASHC5 (W1073R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (D1072N +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 (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | GConflicting classifications of pathogenicity |
| | WASHC5, LOC126860498 (P1070fs +1 more) | Deletion (frameshift variant) | Ritscher-Schinzel syndrome 1 | |
| | LOC126860498, WASHC5 (P922L +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (D1069E +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (D921N +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (T920S +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (P1067L +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | LOC126860498, WASHC5 (V1063L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +2 more | |
| | | Single nucleotide variant (missense variant) | WASHC5-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |