| | | Copy number gain | See cases | |
| | LOC130064933, LOC130064934 +1093 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | CPT1C-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CPT1C-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | CPT1C-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 73 | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 73 | |