| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC129993982, LOC129993983 +265 more | Copy number loss | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +3 more | |
| | | 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 provided | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Indel (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +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) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +3 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous 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 (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) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +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) | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +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) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (synonymous variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +2 more | |
| | | Microsatellite (inframe_deletion) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +2 more | |
| | | Single nucleotide variant (intron variant) | SHORT syndrome +2 more | |
| | | Deletion (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +2 more | |
| | | Indel (intron variant) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 36 +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) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (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 | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +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) | Immunodeficiency 36 +3 more | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 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 +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) | SHORT syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +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) | Inborn genetic diseases +5 more | |