| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +8 more | |
| | RPGRIP1L (P1141fs +3 more) | Microsatellite (frameshift variant) | Meckel-Gruber syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | COACH syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 7 +4 more | |
| | | Insertion (frameshift variant) | Meckel syndrome, type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COACH syndrome 1 | |
| | | Single nucleotide variant (missense variant) | COACH syndrome 1 | |
| | | Single nucleotide variant (missense variant) | RPGRIP1L-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +6 more | GConflicting classifications of pathogenicity |
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