| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LINC02057, LINC02101 +518 more | Copy number gain | See cases | |
| | LOC126807367, LOC126807368 +254 more | Copy number gain | See cases | |
| | ANXA2R, ANXA2R-AS1 +245 more | Copy number gain | See cases | |
| | CPLANE1, CPLANE1-AS1 +9 more | Copy number gain | See cases | |
| | CPLANE1, CPLANE1-AS1 +19 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CPLANE1, CPLANE1-AS1 +18 more | Copy number gain | See cases | |
| | | Deletion | not specified | |
| | | Single nucleotide variant (genic downstream transcript variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 17 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (splice acceptor variant) | not provided | |
| | CPLANE1 (V3181del +1 more) | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 17 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Joubert syndrome 17 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 17 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 17 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Orofaciodigital syndrome type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CPLANE1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |