| | IL4, LOC105379176 (M128T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | IL4, LOC105379176 (T126M +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | IL4, LOC105379176 (L101V +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | IL4, LOC105379176 (R72H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number loss | Houge-Janssens syndrome 3 | |
| | IL4, LOC105379176 (K101Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | IL4, LOC105379176 (K108T +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | IL4, LOC105379176 (D95N +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | IL4, LOC105379176 (F97S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | IL4, LOC105379176 (A57V +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Blepharophimosis +5 more | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | ACSL6, ACSL6-AS1 +263 more | Copy number loss | See cases | |
| | LOC129994580, LOC129994581 +336 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129994513, LOC129994514 +200 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |