| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC111674474, LOC111674475 +2212 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC129999373, LOC129999374 +492 more | Copy number loss | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999356, LOC129999357 +284 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Duplication (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Duplication (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Duplication (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Deletion (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 15 | |