| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC126860518, LOC126860519 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000964, LOC130000965 +1531 more | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | LOC130001371, LOC130001372 +1329 more | Copy number gain | See cases | |
| | ANKRD46, ATP6V1C1 +234 more | Copy number loss | See cases | |
| | LOC130001420, LOC130001421 +1204 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000950, LOC130000951 +154 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001415, LOC130001416 +1067 more | 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) | 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) | ZFPM2-related disorder +3 more | |
| | | 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 +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) | Diaphragmatic hernia 3 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (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) | ZFPM2-related disorder +1 more | |
| | | 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 (missense variant +1 more) | ZFPM2-related disorder | |
| | | 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) | 46,XY sex reversal 9 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tetralogy of Fallot +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 (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 | |
| | | Single nucleotide variant (nonsense +1 more) | Diaphragmatic hernia 3 | |
| | | 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 | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (synonymous variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (intron variant) | 46,XY sex reversal 9 | |
| | ZFPM2, ZFPM2-AS1 (A135P +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 9 | |
| | | Single nucleotide variant (synonymous variant) | ZFPM2-related disorder +1 more | |
| | ZFPM2, ZFPM2-AS1 (F145S +2 more) | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | ZFPM2, ZFPM2-AS1 (L206P +2 more) | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 +1 more | |
| | ZFPM2-AS1, ZFPM2 (A156T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | ZFPM2, ZFPM2-AS1 (S210T +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | 46,XY sex reversal 9 | |
| | ZFPM2, ZFPM2-AS1 (A168V +2 more) | Single nucleotide variant (missense variant) | ZFPM2-related disorder | |
| | ZFPM2, ZFPM2-AS1 (R169C +2 more) | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 | |
| | ZFPM2, ZFPM2-AS1 (R169H +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | ZFPM2, ZFPM2-AS1 (I174V +2 more) | Single nucleotide variant (missense variant) | 46,XY sex reversal 9 +1 more | GConflicting classifications of pathogenicity |
| | ZFPM2, ZFPM2-AS1 (I227M +2 more) | Single nucleotide variant (missense variant) | Double outlet right ventricle | |