| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis 11 +11 more | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome and related disorders +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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