| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Deletion (intron variant) | 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) | VAMP1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spastic paraplegia +1 more | |
| | | Duplication (frameshift variant +1 more) | Spastic ataxia 1 | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (stop lost +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Spastic paraplegia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic paraplegia | |
| | TAPBPL, VAMP1 (R114fs +2 more) | Duplication (frameshift variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 (synonymous variant +1 more) | Spastic paraplegia | |
| | | Deletion (3 prime UTR variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Indel (intron variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +2 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic ataxia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spastic ataxia 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myasthenic syndrome, congenital, 25, presynaptic +4 more | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia | |
| | | Deletion (frameshift variant) | Myasthenic syndrome, congenital, 25, presynaptic | |
| | | Single nucleotide variant (splice donor variant) | Myasthenic syndrome, congenital, 25, presynaptic | |
| | | Deletion (frameshift variant) | Myasthenic syndrome, congenital, 25, presynaptic | |
| | TAPBPL, VAMP1 (R114fs +2 more) | Deletion (frameshift variant +1 more) | VAMP1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myasthenic syndrome, congenital, 25, presynaptic +1 more | |
| | LOC130007245, TAPBPL +1 more | Deletion | Spastic paraplegia | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |