| | 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 (5 prime UTR variant +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Recombinase activating gene 1 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 (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) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift 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 | |
| | | 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) | Inborn genetic diseases | |
| | | 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) | 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) | 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 +3 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) | 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) | 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 (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) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Deletion (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (nonsense) | Combined immunodeficiency due to partial RAG1 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) | 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 due to partial RAG1 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 (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) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (synonymous variant) | RAG1-related disorder +5 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 (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Deletion (frameshift variant) | Combined immunodeficiency with skin granulomas +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +3 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 | |
| | | 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) | Recombinase activating gene 1 deficiency | |
| | | 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) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (nonsense) | Histiocytic medullary reticulosis | |
| | | Deletion (frameshift variant) | Recombinase activating gene 1 deficiency | |
| | | 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) | Combined immunodeficiency with skin granulomas +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +2 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) | 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) | 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 (synonymous variant) | Recombinase activating gene 1 deficiency | |
| | | Deletion (frameshift variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |