| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Deletion (intron variant) | Immunodeficiency 67 | |
| | | Duplication (nonsense +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Microsatellite (frameshift variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Duplication (frameshift variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (nonsense +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant +1 more) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 67 | |
| | | Microsatellite (inframe_deletion +1 more) | Immunodeficiency 67 | |
| | | Deletion | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 67 | |
| | | Deletion (frameshift variant) | Immunodeficiency 67 | |
| | | Microsatellite (inframe_deletion +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Inversion (intron variant) | Immunodeficiency 67 | |
| | | Deletion (frameshift variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant +1 more) | Immunodeficiency 67 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Deletion (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 67 | |