| | | 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 (intron variant) | LHX8-related disorder | |
| | | Single nucleotide variant (synonymous variant) | LHX8-related disorder | |
| | | Single nucleotide variant (synonymous variant) | LHX8-related disorder | |
| | | Single nucleotide variant (synonymous variant) | LHX8-related disorder | |
| | | Single nucleotide variant (intron variant) | LHX8-related disorder | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | LHX8-related disorder +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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | LHX8-related disorder +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Copy number gain | not provided | |
| | LRRIQ3, FPGT-TNNI3K +14 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | 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 | |
| | LOC132088736, LOC132088737 +557 more | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |