| | LOC112577491, LOC112577504 +2149 more | Copy number gain | Trisomy 12p | |
| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929998, LOC129929999 +293 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LAPTM5, LINC01648 +64 more | Copy number loss | See cases | |
| | LAPTM5, LINC01648 +39 more | Copy number gain | 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 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 | |
| | LAPTM5, LOC129929973 (R18C) | Single nucleotide variant (missense variant) | not specified | |
| | LAPTM5, LOC129929973 (R4H) | Single nucleotide variant (missense variant) | not specified | |
| | LAPTM5, LOC129929973 (R4P) | Single nucleotide variant (missense variant) | not specified | |
| | LAPTM5, LOC129929973 (R4G) | Single nucleotide variant (missense variant) | not specified | |
| | LAPTM5, LOC129929973 (R4C) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |