| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 10, autosomal dominant | |
| | | Deletion (frameshift variant) | not provided | |
| | | Microsatellite (frameshift variant) | PU.1-mutated agammaglobulinemia +1 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 10, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 10, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | Agammaglobulinemia 10, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Agammaglobulinemia 10, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | PU.1-mutated agammaglobulinemia | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Agammaglobulinemia 10, autosomal dominant | |
| | | Indel (frameshift variant) | PU.1-mutated agammaglobulinemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion | Leukocyte adhesion deficiency type II | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Fetal akinesia deformation sequence 1 +1 more | |
| | | Duplication | Leukocyte adhesion deficiency type II | |
| | | Deletion | Intellectual disability | |
| | | Deletion | Hypertrophic cardiomyopathy | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |