| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC130002527, LOC130002528 +1272 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003109, LOC130003110 +1210 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Oligosynaptic infertility +1 more | |
| | | Deletion | Oligosynaptic infertility +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Male infertility +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | NR5A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NR5A1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (nonsense) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (missense variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | 46,XY disorder of sex development +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (missense variant) | Disorder of sexual differentiation | |
| | | Single nucleotide variant (nonsense) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| | | Single nucleotide variant (splice acceptor variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (intron variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (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 (intron variant) | not provided | |
| | | Deletion (splice donor variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 46,XY disorder of sex development +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | 46,XY disorder of sex development +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Male infertility +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (missense variant) | Male infertility +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NR5A1-related disorder | |
| | | Single nucleotide variant (missense variant) | Male infertility +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (synonymous variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | 46,XY partial gonadal dysgenesis | |
| | | Single nucleotide variant (intron variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (intron variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (intron variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (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) | Non-obstructive azoospermia +1 more | |
| | | Deletion (frameshift variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (missense variant) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (synonymous variant) | NR5A1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (nonsense) | NR5A1-related disorder | |
| | | Single nucleotide variant (missense variant) | Oligosynaptic infertility +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant) | Genetic non-acquired premature ovarian failure | |
| | | Single nucleotide variant (missense variant) | Male infertility | |
| | | Single nucleotide variant (missense variant) | NR5A1-related disorder | |
| | | Deletion (inframe_deletion) | 46,XY disorder of sex development +1 more | |
| | | Single nucleotide variant (nonsense) | Oligosynaptic infertility +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |