| | | Copy number gain | See cases | |
| | LOC129932391, PIK3C2B +278 more | Deletion | Autism | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Duplication (frameshift variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Systemic lupus erythematosus, susceptibility to, 9 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Systemic lupus erythematosus, susceptibility to, 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 7 | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |