| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion | Distal 7q11.23 microdeletion syndrome | |
| | LINC03009, LOC108228209 +7 more | Duplication | Normal pregnancy | |
| | | Duplication | Large for gestational age | |
| | ABHD11, ABHD11-AS1 +285 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC03009, LOC108228209 +4 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC03009, LOC108228209 +4 more | Copy number loss | See cases | |
| | LINC03009, LOC108228209 +4 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC03009, LOC108228209 +6 more | Copy number loss | See cases | |
| | LINC03009, LOC108228209 +6 more | Copy number gain | See cases | |
| | LINC03009, LOC108228209 +4 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +219 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SPDYE12, SPDYE13 +330 more | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +317 more | Copy number loss | See cases | |