| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129997541, TMEM242 (A4E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129997541, TMEM242 (A6T) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | LOC129997480, LOC129997522 +288 more | Deletion | Chromosome 6q24-q25 deletion syndrome | |
| | | Copy number loss | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129997541, TMEM242 (Q10H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129997541, TMEM242 (A4G) | 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 | |
| | LOC129997541, TMEM242 (P11L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129997541, TMEM242 (G9E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Corpus callosum, agenesis of +3 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Coffin-Siris syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Complex | Coffin-Siris syndrome 1 | |
| | | Copy number gain | Hypotonia +7 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Long eyelashes +5 more | |
| | LOC129997450, LOC129997451 +1002 more | Copy number gain | See cases | |
| | ARID1B, LOC105378073 +58 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARID1B, LOC123881346 +10 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +55 more | Copy number loss | See cases | |
| | ARID1B, LOC105378073 +58 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |