| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome and related disorders +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +27 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 6 | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 6 | |
| | | Single nucleotide variant (nonsense) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +6 more | GPathogenic/Likely pathogenic |
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