| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Duplication | Joubert syndrome 22 | |
| | | Deletion | Joubert syndrome 22 | |
| | LOC129935846, PDE6D (E10D) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 22 | |
| | | Deletion (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Deletion (frameshift variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 22 | |
| | | Deletion | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Deletion (frameshift variant) | Joubert syndrome 22 | |
| | | Duplication | Joubert syndrome 22 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Duplication | Joubert syndrome 22 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 22 | |
| | | Deletion (frameshift variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 22 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 22 | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 22 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 22 | |
| | | Insertion (frameshift variant +1 more) | Joubert syndrome 22 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Joubert syndrome 22 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 22 | |