| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 7 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 5 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 7 +6 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 7 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Kidney disorder +7 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 7 +3 more | |
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