Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hashimoto thyroiditis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
Click to view in NCBI Gene