| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001243, LOC130001244 +1204 more | Copy number gain | See cases | |
| | LOC130001328, LOC130001329 +1067 more | Copy number gain | See cases | |
| | LOC114827840, LOC121331310 +961 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390060, LOC129929031 +745 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860527, LOC126860528 +499 more | Copy number gain | See cases | |
| | LOC130001259, LOC130001260 +373 more | Copy number gain | See cases | |
| | MIR10400, MIR1234 +375 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC110673972, CYP11B1 +3 more | Deletion | not provided | |
| | | Deletion | Deficiency of steroid 11-beta-monooxygenase | |
| | | Duplication | Glucocorticoid-remediable aldosteronism | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Deletion (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone methyloxidase type 2 deficiency +2 more | |
| | | Duplication (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP11B2, LOC106799834 (T498A) | Single nucleotide variant (missense variant) | CYP11B2-related disorder | |
| | CYP11B2, LOC106799834 (L496fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP11B2, LOC106799834 (Y485C) | Single nucleotide variant (missense variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP11B2, LOC106799834 (I481L) | Single nucleotide variant (missense variant) | Corticosterone 18-monooxygenase deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP11B2, LOC106799834 (E474K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP11B2, LOC106799834 (V467M) | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (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) | Corticosterone 18-monooxygenase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Corticosterone 18-monooxygenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Corticosterone 18-monooxygenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion) | not provided | |
| | CYP11B2, LOC106799834 (H465Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |