| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Meckel syndrome, type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Joubert syndrome and related disorders +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 | |
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