Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Astigmatism +8 more | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | T-B+ severe combined immunodeficiency due to JAK3 deficiency +6 more | |
Click to view in NCBI Gene