| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124174256, LOC124174257 +541 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC106903146, LOC129389984 +12 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Deletion | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Duplication | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Deletion | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Duplication | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Deletion (splice donor variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |