NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided|Glioma susceptibility 1|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
★★☆☆2025→ Residue 189
NM_000781.3(CYP11A1):c.625+2dupLikely pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided|Congenital adrenal hyperplasia
★★☆☆2025
NM_000781.3(CYP11A1):c.806C>T (p.Ala269Val)Likely pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024→ Residue 269
NM_000781.3(CYP11A1):c.202dup (p.Glu68fs)Pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024→ Residue 68
NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided
★★☆☆2024→ Residue 451
NM_000781.3(CYP11A1):c.1378C>T (p.Arg460Trp)Likely pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024→ Residue 460
NM_000781.3(CYP11A1):c.830-1G>CLikely pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024
NM_000781.3(CYP11A1):c.1270C>T (p.Arg424Ter)Pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024→ Residue 424
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2024→ Residue 232
NM_000781.3(CYP11A1):c.358del (p.Arg120fs)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided
★★☆☆2024→ Residue 120
NM_000781.3(CYP11A1):c.835del (p.Ile279fs)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided|CYP11A1-related disorder
★★☆☆2024→ Residue 279
NM_000781.3(CYP11A1):c.358C>T (p.Arg120Ter)Pathogenic
not provided|Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★★☆☆2024→ Residue 120
NM_000781.3(CYP11A1):c.425+1G>APathogenic
not provided
★★☆☆2023
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)Pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|not provided
★★☆☆2023→ Residue 170
NM_000781.3(CYP11A1):c.844del (p.Gln282fs)Likely pathogenic
Wilson disease
★☆☆☆2025→ Residue 282
NM_000781.3(CYP11A1):c.1384T>C (p.Cys462Arg)Likely pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
★☆☆☆2025→ Residue 462
NM_000781.3(CYP11A1):c.804del (p.Ala269fs)Likely pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★☆☆☆2024→ Residue 269
NM_000781.3(CYP11A1):c.644T>C (p.Phe215Ser)Likely pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★☆☆☆2024→ Residue 215
NM_000781.3(CYP11A1):c.864del (p.Arg289fs)Likely pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★☆☆☆2024→ Residue 289
NM_000781.3(CYP11A1):c.1094del (p.Gly365fs)Likely pathogenic
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
★☆☆☆2024→ Residue 365