| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Meckel-Gruber syndrome +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 13 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 28 +3 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 28 +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 28 +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 28 +4 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 1 +6 more | GConflicting classifications of pathogenicity |
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