Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Finnish type amyloidosis | |
| | | Deletion (frameshift variant) | Nanophthalmos 1 | |
| | | Single nucleotide variant (missense variant) | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Developmental cataract | |
Click to view in NCBI Gene