| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | ICOS-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (splice donor variant) | Inherited Immunodeficiency Diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +1 more) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 1 | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Deletion (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Duplication (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 1 | |