Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C2CD3, LOC121392929 (L306P) | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | See cases +7 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +10 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene