| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Inherited Immunodeficiency Diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | |
| | IL12RB1, LOC130063972 (R15Q) | Single nucleotide variant (5 prime UTR variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | |
Click to view in NCBI Gene