| | | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (G379fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Deletion (splice donor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (E361fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (R384fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Microsatellite (inframe insertion +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (F239fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (G267R) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Indel (inframe_indel) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | | Microsatellite (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Duplication (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (Y266*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | LOC106799833, CYP11B1 (R208P) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (P250T) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (S281N) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (P414A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (N222fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (D317fs) | Duplication (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (A313fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (W137*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (K232fs) | Indel (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (K251fs) | Insertion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (Q265fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (K232*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (Q272*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (I271fs) | Insertion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (M238fs) | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (R404del) | Deletion (inframe_deletion +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | LOC106799833, CYP11B1 (L462fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (V405fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (K305*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (R454fs) | Duplication (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Glucocorticoid-remediable aldosteronism +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (Q285fs) | Insertion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (R448C) | Single nucleotide variant (missense variant +1 more) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (A303fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (Q265*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (N394fs) | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (S150*) | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (A153T) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (R208Q) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | | Deletion (splice donor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (S300W) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (A297V) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | | Single nucleotide variant (synonymous variant) | Glucocorticoid-remediable aldosteronism +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Glucocorticoid-remediable aldosteronism +2 more | |
| | | Single nucleotide variant (intron variant) | Glucocorticoid-remediable aldosteronism +2 more | |
| | CYP11B1, LOC106799833 (H214fs) | Microsatellite (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (R141*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | CYP11B1, LOC106799833 (S243fs) | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC110673972 (C10Y) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | |
| | CYP11B1, LOC106799833 (R448P) | Single nucleotide variant (missense variant +1 more) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (D414fs +1 more) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (V316M) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (P442fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (L142*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (Y275*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (Q284*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | CYP11B1, LOC106799833 (G379V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CYP11B1, LOC106799833 (Q338*) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | GConflicting classifications of pathogenicity |
| | CYP11B1, LOC106799833 (R181W) | Single nucleotide variant (missense variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | CYP11B1, LOC106799833 (R181P) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CYP11B1, LOC106799833 (I304M) | Single nucleotide variant (missense variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | | Single nucleotide variant (intron variant) | Glucocorticoid-remediable aldosteronism +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | | Single nucleotide variant (missense variant) | Glucocorticoid-remediable aldosteronism +1 more | |
| | | Single nucleotide variant (intron variant) | Glucocorticoid-remediable aldosteronism +2 more | GConflicting classifications of pathogenicity |