| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |