| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | LOC130059420, LOC130059421 +869 more | Copy number gain | See cases | |
| | LOC132090408, LOC132090409 +572 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059850, LOC130059851 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112486211, LOC112486212 +360 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FA2H, LOC125177351 +12 more | Copy number loss | See cases | |
| | FA2H, LOC130059393 +3 more | Deletion | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Deletion (inframe_deletion) | Hereditary spastic paraplegia 35 +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | FA2H, LOC130059394 (I58fs) | Duplication (frameshift variant) | Spastic paraplegia | |
| | FA2H, LOC130059394 (D57fs) | Microsatellite (frameshift variant) | Spastic paraplegia | |
| | FA2H, LOC130059394 (A54fs) | Microsatellite (frameshift variant) | Hereditary spastic paraplegia 35 | |
| | FA2H, LOC130059394 (Q56fs) | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | FA2H, LOC130059394 (P44fs) | Deletion (frameshift variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | FA2H, LOC130059394 (F39fs) | Deletion (frameshift variant) | Hereditary spastic paraplegia 35 | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | FA2H, LOC130059394 (C25del) | Deletion (inframe_deletion) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | FA2H, LOC130059394 (A24fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 35 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | FA2H-related disorder | |
| | | Single nucleotide variant | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant | Hereditary spastic paraplegia 35 +2 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |