| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | DCAF4L2, DCSTAMP +333 more | Copy number gain | not specified | |
| | | Deletion | Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more | |
| | | Duplication | Holoprosencephaly sequence | |
| | | Duplication | Brown-Vialetto-van Laere syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | 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 gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more | |
| | | Duplication | Brown-Vialetto-van Laere syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105375713, LOC105375742 +1553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001173, LOC130001174 +1068 more | Copy number gain | See cases | |
| | LOC126860535, LOC126860536 +1687 more | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | LOC130000987, LOC130000988 +1205 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001109, LOC130001110 +1532 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001226, LOC130001227 +1407 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001070, LOC130001071 +962 more | Copy number gain | See cases | |
| | LOC130001144, LOC130001145 +745 more | Copy number gain | See cases | |