| | | 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 | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC126860518, LOC126860519 +1552 more | Copy number gain | See cases | |
| | LOC130000964, LOC130000965 +1531 more | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | LOC130001371, LOC130001372 +1329 more | Copy number gain | See cases | |
| | LOC130001420, LOC130001421 +1204 more | Copy number gain | See cases | |
| | LOC130001415, LOC130001416 +1067 more | Copy number gain | See cases | |
| | LOC124188223, LOC124188224 +961 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001144, LOC130001145 +745 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 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 | |