| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 23 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Joubert syndrome 23 +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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