| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CFTR, LOC111674472 (L997F) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (R1066C) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
| | CFTR, LOC111674472 (Y1092*) | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | CFTR, LOC111674472 (M1101K) | Single nucleotide variant (missense variant) | Cystic fibrosis | |
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