| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DHH-related disorder | |
| | | Single nucleotide variant (synonymous variant) | DHH-related disorder | |
| | | Duplication (inframe insertion) | DHH-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | DHH-related disorder | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | DHH-related disorder +1 more | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Disorder of sexual differentiation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense) | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | |
| | | Single nucleotide variant (missense variant) | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | |
| | | Duplication (splice acceptor variant) | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (3 prime UTR variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (5 prime UTR variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (3 prime UTR variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (3 prime UTR variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 7 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (nonsense) | 46,XY sex reversal 7 | |
| | | Deletion (frameshift variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (nonsense) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | |
| | | Inversion | not specified | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 7 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | 46,XY sex reversal 7 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |