| | GPHN, RDH12
+1 more (A269fs) | Deletion (frameshift variant) | RDH12-related disorder +4 more | |
| | GPHN, RDH12
+1 more (V290G) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Deletion (splice acceptor variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |