| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | PIK3R1-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Indel (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +3 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Microsatellite (inframe_deletion) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Deletion (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Indel (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +3 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (nonsense) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +3 more | |