| | | Single nucleotide variant (missense variant) | SRD5A2-related disorder | |
| | | Duplication | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | SRD5A2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | SRD5A2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Indel (missense variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Insertion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Duplication (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |