NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|not provided|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia|Differences in sex development
★★☆☆2026→ Residue 96
NM_000102.4(CYP17A1):c.666+2T>CLikely pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2026
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2026→ Residue 362
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|not provided|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia|CYP17A1-related disorder
★★☆☆2026→ Residue 362
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)Pathogenic
Deficiency of steroid 17-alpha-monooxygenase|not provided|Congenital adrenal hyperplasia
★★☆☆2026→ Residue 332
NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2025→ Residue 436
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2025→ Residue 290
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2025→ Residue 449
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase|CYP17A1-related disorder
★★☆☆2025→ Residue 220
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|Deficiency of steroid 17-alpha-monooxygenase|not provided
★★☆☆2025→ Residue 406
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase|CYP17A1-related disorder
★★☆☆2025→ Residue 226
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|not provided|Deficiency of steroid 17-alpha-monooxygenase|CYP17A1-related disorder
★★☆☆2025→ Residue 106
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)Pathogenic
Deficiency of steroid 17-alpha-monooxygenase|not provided|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 421
NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase
★★☆☆2025→ Residue 416
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase|CYP17A1-related disorder
★★☆☆2025→ Residue 329
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial|Deficiency of steroid 17-alpha-monooxygenase|not provided
★★☆☆2025→ Residue 54
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 409
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)Pathogenic
Deficiency of steroid 17-alpha-monooxygenase|not provided
★★☆☆2025→ Residue 496
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr)Pathogenic
not provided|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia
★★☆☆2025→ Residue 373
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)Pathogenic
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete|not provided|Deficiency of steroid 17-alpha-monooxygenase|Congenital adrenal hyperplasia|Differences in sex development
★★☆☆2025→ Residue 480