| | LOC126860453, LOC126860454 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860334, LOC126860335 +3657 more | Copy number gain | See cases | |
| | LOC108281171, LOC108281187 +3661 more | Copy number gain | See cases | |
| | LOC130000117, LOC130000118 +3110 more | Copy number gain | See cases | |
| | LOC121331303, LOC121331304 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1687 more | Copy number gain | See cases | |
| | LOC130000886, LOC130000887 +1553 more | Copy number gain | See cases | |
| | LOC129390045, LOC129390046 +1153 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03084, LNCOC1 +1407 more | Copy number gain | See cases | |
| | LOC130000944, LOC130000945 +1330 more | Copy number gain | See cases | |
| | ANKRD46, ATP6V1C1 +234 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC03084, LOC110120608 +7 more | Copy number gain | See cases | |
| | | Duplication (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (nonsense) | ZFPM2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 +2 more | |
| | LOC110121208, LOC113783881 +8 more | Copy number gain | See cases | |
| | LOC110121208, LOC113783881 +8 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Diaphragmatic hernia 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant +1 more) | ZFPM2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 46,XY sex reversal 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 46,XY sex reversal 9 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (splice acceptor variant) | ZFPM2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Diaphragmatic hernia 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Diaphragmatic hernia 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | Diaphragmatic hernia 3 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |