| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935416, LOC129935417 +3 more | Deletion | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Deletion (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Deletion (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Deletion (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Deletion (3 prime UTR variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 14 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 14 | |
| | | Deletion (inframe_deletion) | Joubert syndrome 14 | |
| | | Single nucleotide variant (nonsense) | TMEM237-related condition | |