| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000309, LOC130000310 +900 more | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC130000135, LOC130000136 +593 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CEBPD, LOC121740717 +7 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Duplication (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to DNA-PKcs deficiency | |