| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC126860518, LOC126860519 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000964, LOC130000965 +1531 more | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | LOC130001371, LOC130001372 +1329 more | Copy number gain | See cases | |
| | LOC130001420, LOC130001421 +1204 more | Copy number gain | See cases | |
| | LOC130001415, LOC130001416 +1067 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC124188223, LOC124188224 +961 more | Copy number gain | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | LOC130001053, LOC130001054 +285 more | Copy number gain | See cases | |
| | FER1L6-AS2, LINC00964 +78 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001144, LOC130001145 +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) | not specified +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) | Hereditary spastic paraplegia 8 +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) | not provided +4 more | |
| | LOC126860498, WASHC5 (T1106M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | WASHC5, LOC126860498 (I1099T +1 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +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) | not specified +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 +2 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +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 | |