| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice acceptor variant) | Meckel syndrome, type 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome and related disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome and related disorders +2 more | GPathogenic/Likely pathogenic |
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