NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase|Congenital adrenal hyperplasia
★★☆☆2026→ Residue 356
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase|Congenital adrenal hyperplasia
★★☆☆2026→ Residue 143
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)Pathogenic
not provided|Congenital adrenal hyperplasia|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase
★★☆☆2026→ Residue 243
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|CYP11B1-related disorder|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase
★★☆☆2026→ Residue 423
NM_000497.4(CYP11B1):c.596-2A>GLikely pathogenic
Congenital adrenal hyperplasia|not provided
★★☆☆2025
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|Congenital adrenal hyperplasia|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase|not provided
★★☆☆2025→ Residue 42
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|Congenital adrenal hyperplasia|Differences in sex development
★★☆☆2025→ Residue 79
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)Pathogenic
not provided|Deficiency of steroid 11-beta-monooxygenase|Deficiency of steroid 11-beta-monooxygenase;Glucocorticoid-remediable aldosteronism|CYP11B1-related disorder
★★☆☆2025→ Residue 394
NM_000497.4(CYP11B1):c.396-1G>APathogenic
Deficiency of steroid 11-beta-monooxygenase;Glucocorticoid-remediable aldosteronism|Deficiency of steroid 11-beta-monooxygenase|not provided
★★☆☆2025
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided
★★☆☆2025→ Residue 489
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)Likely pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 374
NM_000497.4(CYP11B1):c.954G>C (p.Thr318=)Likely pathogenic
not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 318
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|Glucocorticoid-remediable aldosteronism|Glucocorticoid-remediable aldosteronism;Deficiency of steroid 11-beta-monooxygenase|CYP11B1-related disorder
★★☆☆2025→ Residue 448
NM_000497.4(CYP11B1):c.1345del (p.Gln449fs)Pathogenic
not provided|Deficiency of steroid 11-beta-monooxygenase
★★☆☆2025→ Residue 449
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)Pathogenic
Deficiency of steroid 11-beta-monooxygenase|not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 306
NM_000497.4(CYP11B1):c.396-2A>GLikely pathogenic
Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase
★★☆☆2025
NM_000497.4(CYP11B1):c.596-2A>TPathogenic
not provided|Deficiency of steroid 11-beta-monooxygenase
★★☆☆2025
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)Pathogenic
not provided|Deficiency of steroid 11-beta-monooxygenase
★★☆☆2024→ Residue 448
NM_000497.4(CYP11B1):c.1398+5G>CPathogenic
not provided|Congenital adrenal hyperplasia|Deficiency of steroid 11-beta-monooxygenase
★★☆☆2024
NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys)Pathogenic
not provided|Congenital adrenal hyperplasia
★★☆☆2024→ Residue 116