| | CYP17A1, CYP17A1-AS1 (E285K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP17A1-AS1, CYP17A1 (W313*) | Single nucleotide variant (nonsense) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (Q323R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (N261fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (K325*) | Single nucleotide variant (nonsense) | not provided | |
| | CYP17A1, CYP17A1-AS1 (T306N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (F224fs) | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (A269fs) | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Deletion (splice acceptor variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | CYP17A1, CYP17A1-AS1 (I296T) | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | CYP17A1-AS1, CYP17A1 (A316fs) | Duplication (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (R239Q) | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | CYP17A1, CYP17A1-AS1 (E248K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP17A1, CYP17A1-AS1 (N321S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (R255Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided +2 more | |
| | CYP17A1, CYP17A1-AS1 (Q323*) | Single nucleotide variant (nonsense) | not provided | |
| | CYP17A1, CYP17A1-AS1 (S284fs) | Deletion (frameshift variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (K251fs) | Deletion (frameshift variant) | not provided | |
| | CYP17A1-AS1, CYP17A1 (I259T) | Single nucleotide variant (missense variant) | not specified | |
| | CYP17A1, CYP17A1-AS1 (I292S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (K231*) | Single nucleotide variant (nonsense) | not provided | |
| | CYP17A1, CYP17A1-AS1 (Q268*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | CYP17A1, CYP17A1-AS1 (F224S) | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CYP17A1, CYP17A1-AS1 (V311fs) | Deletion (frameshift variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (N226fs) | Duplication (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP17A1, CYP17A1-AS1 (N290fs) | Deletion (frameshift variant) | Deficiency of steroid 17-alpha-monooxygenase +1 more | GPathogenic/Likely pathogenic |
| | CYP17A1, CYP17A1-AS1 (D283H) | Single nucleotide variant (missense variant) | Deficiency of steroid 17-alpha-monooxygenase | |
| | LOC124416905, LOC124416906 +318 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130004500, LOC130004501 +821 more | Copy number gain | See cases | |