NM_000500.9(CYP21A2):c.1096C>T (p.His366Tyr)Pathogenic
not provided|Congenital adrenal hyperplasia
★★☆☆2026→ Residue 366
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|Inborn genetic diseases|not provided|Congenital adrenal hyperplasia
★★☆☆2026→ Residue 173
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2026→ Residue 31
NM_000500.9(CYP21A2):c.377C>G (p.Ser126Ter)Pathogenic
not provided|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
★★☆☆2026→ Residue 126
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2026→ Residue 308
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2026→ Residue 292
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2026→ Residue 111
NM_000500.9(CYP21A2):c.1108C>T (p.Arg370Trp)Pathogenic
not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 370
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)Pathogenic
Carcinoma, adrenocortical, androgen-secreting|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|Adenoma, cortisol-producing|Inborn genetic diseases|not provided|Congenital adrenal hyperplasia|CYP21A2-related disorder
★★☆☆2025→ Residue 282
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided|CYP21A2-related disorder
★★☆☆2025→ Residue 484
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided|Congenital lipoid adrenal hyperplasia due to STAR deficency|See cases|CYP21A2-related disorder
★★☆☆2025→ Residue 454
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)Pathogenic
not provided|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|CYP21A2-related disorder|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 483
NM_000500.9(CYP21A2):c.-113G>APathogenic
Congenital adrenal hyperplasia|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2025
NM_000500.9(CYP21A2):c.1279C>T (p.Arg427Cys)Pathogenic
not provided|ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
★★☆☆2025→ Residue 427
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 92
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY|not provided
★★☆☆2025→ Residue 409
NM_000500.9(CYP21A2):c.1451G>A (p.Arg484Gln)Pathogenic
not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 484
NM_000500.9(CYP21A2):c.1444C>T (p.Gln482Ter)Pathogenic
not provided
★★☆☆2025→ Residue 482
NM_000500.9(CYP21A2):c.124C>T (p.Gln42Ter)Pathogenic
not provided
★★☆☆2025→ Residue 42
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)Pathogenic
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
★★☆☆2025→ Residue 23