| | | Single nucleotide variant (nonsense +2 more) | Meckel syndrome, type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +5 more | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 13 +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 13 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (splice donor variant) | Meckel syndrome, type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 13 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +7 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel-Gruber syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 13 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 13 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +7 more | GConflicting classifications of pathogenicity |