| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary pancreatitis +5 more | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cystic fibrosis +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | CFTR-related disorders +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cystic fibrosis +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene