| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130005622, LOC130005623 +224 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Histiocytic medullary reticulosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Histiocytic medullary reticulosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Deletion (frameshift variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (nonsense) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Histiocytic medullary reticulosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Insertion (nonsense) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | RAG2-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (nonsense) | Combined immunodeficiency with skin granulomas +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Deletion (frameshift variant +2 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | |
| | | Deletion (frameshift variant) | Combined immunodeficiency with skin granulomas +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Duplication (frameshift variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Histiocytic medullary reticulosis +2 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +5 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Deletion (frameshift variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |