| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | LOC129935258, LOC129935259 +312 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | CALCRL, CALCRL-AS1 +88 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935268, LOC129935269 +329 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 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 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |