Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Familial hemophagocytic lymphohistiocytosis type 1 | |
| | | Single nucleotide variant (intron variant +2 more) | Familial hemophagocytic lymphohistiocytosis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +5 more | |
Click to view in NCBI Gene