| | | Indel (frameshift variant) | Joubert syndrome 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 2 | |
| | | Indel (frameshift variant) | Joubert syndrome 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Joubert syndrome 2 | |
| | | Indel (splice donor variant) | Joubert syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 2 | |
| | | Insertion (frameshift variant) | Joubert syndrome 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 2 +1 more | |
| | | Insertion | Joubert syndrome 2 +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Familial aplasia of the vermis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 2 +2 more | |
| | | Single nucleotide variant | Joubert syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant | Joubert syndrome 2 +1 more | |
| | | Single nucleotide variant | Joubert syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Joubert syndrome 2 +2 more | GPathogenic/Likely pathogenic |
| | | Indel (splice acceptor variant +1 more) | Meckel syndrome, type 2 +1 more | |
| | | Insertion (frameshift variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Meckel syndrome, type 2 +2 more | |
| | | Duplication (intron variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Meckel syndrome, type 2 +1 more | |
| | | Deletion (frameshift variant +2 more) | Meckel syndrome, type 2 +1 more | |
| | | Indel (splice acceptor variant +1 more) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 2 +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 2 +1 more | |
| | | Indel (splice acceptor variant +1 more) | Joubert syndrome 2 +1 more | |
| | | Deletion (frameshift variant +1 more) | Joubert syndrome 2 +1 more | |
| | | Microsatellite (splice donor variant +1 more) | Joubert syndrome 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis | |
| | | Deletion (splice acceptor variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis +2 more | |
| | | Deletion (frameshift variant) | Meckel syndrome, type 2 +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 2 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Joubert syndrome 2 +2 more | |
| | | Duplication (frameshift variant) | Familial aplasia of the vermis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 2 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Meckel syndrome, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Joubert syndrome 2 +1 more | |
| | | Single nucleotide variant | Joubert syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Meckel syndrome, type 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 2 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 2 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |