| | | Deletion (frameshift variant) | Familial aplasia of the vermis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 13 +9 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Familial aplasia of the vermis +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant +1 more) | Bardet-Biedl syndrome 13 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Bardet-Biedl syndrome 13 +6 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 13 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 13 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Meckel syndrome, type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 13 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Familial aplasia of the vermis +4 more | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 13 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 28 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 13 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 13 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 13 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Bardet-Biedl syndrome 13 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Meckel-Gruber syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel-Gruber syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 13 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 13 +5 more | |
| | | Deletion (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 13 +5 more | GPathogenic/Likely pathogenic |
| | LOC130061271, MKS1 (D19fs) | Duplication (5 prime UTR variant +1 more) | Familial aplasia of the vermis +4 more | GPathogenic/Likely pathogenic |