| | | Microsatellite (intron variant) | Meckel syndrome, type 6 +5 more | |
| | | Single nucleotide variant (missense variant) | COACH syndrome 2 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 6 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +5 more | |
| | | Indel (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 9 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 +7 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +6 more | |
| | | Microsatellite (inframe_deletion) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 9 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Deletion (splice donor variant) | Anencephaly +17 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |