| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CPLANE1, LOC129389274 (S1487N) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CPLANE1, LOC129389274 (S1468C) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | CPLANE1, LOC129389274 (I1437T) | Single nucleotide variant (missense variant) | Joubert syndrome 17 +2 more | |
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