| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CYP17A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CYP17A1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Microsatellite (inframe deletion) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe deletion) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1-AS1, CYP17A1 (A316fs) | Duplication (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (I296T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CYP17A1, CYP17A1-AS1 (N290fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP17A1, CYP17A1-AS1 (A269fs) | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CYP17A1, CYP17A1-AS1 (R239Q) | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (R239*) | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Deletion (splice acceptor variant) | not provided +1 more | |
| | CYP17A1, CYP17A1-AS1 (N226fs) | Duplication (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase +2 more | GPathogenic/Likely pathogenic |
| | CYP17A1, CYP17A1-AS1 (F224fs) | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Microsatellite (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Duplication (inframe_insertion) | Congenital adrenal hyperplasia +1 more | |
| | | Single nucleotide variant (missense variant) | CYP17A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |