| | | Single nucleotide variant (missense variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | AHI1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | AHI1-related condition | |
| | | Single nucleotide variant (missense variant) | AHI1-related condition | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Duplication (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Duplication (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Insertion (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis | |
| | | Microsatellite (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Microsatellite (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (splice acceptor variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Deletion (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (splice donor variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Microsatellite (frameshift variant) | Familial aplasia of the vermis | |