| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (intron variant) | CFAP221-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | CFAP221-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (splice donor variant) | Primary ciliary dyskinesia | |
Click to view in NCBI Gene