| | | Microsatellite (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel syndrome, type 9 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 27 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel syndrome, type 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 9 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 27 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +3 more | |
| | | Deletion | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 27 +3 more | GPathogenic/Likely pathogenic |