Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mycobacterium tuberculosis, susceptibility to +4 more | |
| | | Single nucleotide variant (missense variant) | Disseminated atypical mycobacterial infection +5 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 27A +5 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 27A +3 more | |
| | | Deletion (frameshift variant) | Inherited Immunodeficiency Diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Deletion (frameshift variant) | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | |
| | | Deletion (frameshift variant) | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | |
| | | Deletion (frameshift variant) | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +7 more | |
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