NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)Pathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β
β
ββ2026β Residue 198
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)Pathogenic
Corticosterone methyloxidase type 2 deficiency|not provided|Corticosterone methyl oxidase type II deficiency|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency
β
β
ββ2026β Residue 185
NM_000498.3(CYP11B2):c.240-1G>CPathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2026
NM_000498.3(CYP11B2):c.1398+2T>GPathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)Pathogenic
Corticosterone 18-monooxygenase deficiency|CYP11B2-related disorder|not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 308
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)Pathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 318
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)Pathogenic
not provided|CYP11B2-related disorder|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 102
NM_000498.3(CYP11B2):c.1398+1G>APathogenic
not provided|Corticosterone methyl oxidase type II deficiency|Corticosterone methyloxidase type 2 deficiency;Corticosterone 18-monooxygenase deficiency
β
β
ββ2025
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 141
NM_000498.3(CYP11B2):c.1200+1G>APathogenic
not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025
NM_000498.3(CYP11B2):c.799+1G>APathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025
NM_000498.3(CYP11B2):c.1201-2A>CLikely pathogenic
Aldosterone Synthase Deficiency|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)Pathogenic
Corticosterone methyl oxidase type II deficiency|not provided|CYP11B2-related disorder|Corticosterone methyloxidase type 2 deficiency;Corticosterone 18-monooxygenase deficiency
β
β
ββ2025β Residue 263
NM_000498.3(CYP11B2):c.1486del (p.Leu496fs)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 496
NM_000498.3(CYP11B2):c.1009C>T (p.Gln337Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 337
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)Likely pathogenic
Corticosterone methyloxidase type 2 deficiency|CYP11B2-related disorder|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 498
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 450
NM_000498.3(CYP11B2):c.240delPathogenic
Corticosterone methyl oxidase type II deficiency|not provided
β
β
ββ2025
NM_000498.3(CYP11B2):c.726del (p.Ser243fs)Pathogenic
not provided|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 243
NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)Pathogenic
CYP11B2-related disorder|not provided|Corticosterone 18-monooxygenase deficiency;Corticosterone methyloxidase type 2 deficiency|Corticosterone methyl oxidase type II deficiency
β
β
ββ2025β Residue 260