| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 24 +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 | |
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