| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | BHLHE22, BHLHE22-AS1 +12 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | CYP7B1-related disorder | |
| | | Single nucleotide variant (missense variant) | CYP7B1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 5A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Deletion (frameshift variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A +1 more | |
| | | Indel (nonsense +1 more) | Hereditary spastic paraplegia 5A | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic Paraplegia, Recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Duplication (frameshift variant +1 more) | Spastic paraplegia +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +2 more | |
| | | Deletion (inframe_deletion +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant +1 more) | 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 | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |