| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | 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 | |
| | | Duplication | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Duplication | Lymphoproliferative syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Duplication | not provided | |
| | | 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 | |
| | | Duplication | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |