| | ABLIM1, ABRAXAS2 +1097 more | Copy number gain | See cases | |
| | LOC130004745, LOC130004746 +802 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | LOC126861096, LOC126861097 +438 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +418 more | Copy number loss | See cases | |
| | LOC130004871, LOC130004872 +409 more | Copy number loss | See cases | |
| | LOC130004930, LOC130004931 +399 more | Copy number loss | See cases | |
| | LOC110120892, LOC110120898 +395 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +383 more | Copy number loss | See cases | |
| | ABRAXAS2, ACADSB +361 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +331 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +318 more | Copy number loss | See cases | |
| | LOC132089760, LOC132089761 +318 more | Copy number loss | See cases | |
| | LOC110120928, LOC110121444 +311 more | Copy number loss | See cases | |
| | EDRF1, EDRF1-AS1 +297 more | Copy number loss | See cases | |
| | ABRAXAS2, ADAM12 +257 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Hypotonia, ataxia, and delayed development syndrome +1 more | |
| | | Copy number loss | See cases | |
| | LOC130005036, LOC132089757 +199 more | 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 | |
| | LOC130005028, LOC130005029 +170 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 loss | See cases | |
| | | Copy number loss | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | not provided | |
| | CYP2E1, LOC110599585 +16 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005030, LOC130005031 +2 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CYP2E1, LOC110599585 +11 more | Duplication | Normal pregnancy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CYP2E1, LOC110599585 +11 more | Copy number gain | See cases | |
| | CYP2E1, LOC110599585 +11 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ABLIM1, ABRAXAS2 +145 more | Copy number gain | Distal trisomy 10q | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number gain | Distal trisomy 10q | |
| | | Copy number loss | Distal 10q deletion syndrome | |