| | LOC129996876, LOC129996877 +1449 more | Copy number gain | See cases | |
| | LOC129997450, LOC129997451 +1002 more | Copy number gain | See cases | |
| | | Deletion | Autoinflammatory syndrome, familial, Behcet-like | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Microsatellite (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Microsatellite (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Deletion (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Duplication (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | AHI1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | AHI1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Duplication (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice donor variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice donor variant +1 more) | Joubert syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 | |
| | | Microsatellite (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift 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 | |