| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANKRD44, ANKRD44-AS1 +118 more | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935350, LOC129935351 +69 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary spastic paraplegia 13 | |
| | | Duplication | Spastic paraplegia | |
| | | Duplication (3 prime UTR variant) | Spastic paraplegia, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Deletion (inframe_deletion) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Duplication (inframe_insertion) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +3 more | |
| | | Deletion (inframe_deletion) | not specified | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Microsatellite (frameshift variant) | HSPD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Microsatellite (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 13 +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Duplication (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 13 | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |