Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Protein-losing enteropathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cromer blood group system +1 more | |
| | | Single nucleotide variant (splice donor variant) | Protein-losing enteropathy +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Protein-losing enteropathy +3 more | |
| | | Single nucleotide variant (missense variant) | Protein-losing enteropathy +9 more | |
| | | Single nucleotide variant (splice acceptor variant) | Protein-losing enteropathy | |
| | | Single nucleotide variant (missense variant +1 more) | Protein-losing enteropathy | |
| | | Indel (frameshift variant +1 more) | Protein-losing enteropathy | |
| | | Deletion (frameshift variant +1 more) | Protein-losing enteropathy | |
| | | Deletion (frameshift variant +1 more) | Protein-losing enteropathy | |
| | | Single nucleotide variant (missense variant) | Protein-losing enteropathy +12 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene