| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861107, LOC128598885 +802 more | Copy number gain | See cases | |
| | ABLIM1, ABRAXAS2 +679 more | Copy number gain | See cases | |
| | LOC126861050, LOC126861051 +248 more | Copy number gain | See cases | |
| | ABRAXAS2, ACADSB +514 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130004884, LOC130004885 +438 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SEC23IP-related disorder | |
| | | 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 provided +1 more | |
| | | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | SEC23IP-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (intron variant) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | SEC23IP-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SEC23IP-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC23IP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | ABLIM1, ABRAXAS2 +117 more | Copy number gain | not provided | |
| | ABLIM1, ABRAXAS2 +145 more | Copy number gain | Distal trisomy 10q | |
| | | Copy number gain | Distal trisomy 10q | |
| | ABRAXAS2, CHCHD1 +673 more | Copy number loss | Distal 10q deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | ABLIM1, ABRAXAS2 +146 more | Copy number gain | not specified | |
| | | Copy number loss | Astigmatism +4 more | |