| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | 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 | |
| | LOC130000106, LOC130000107 +937 more | Copy number gain | See cases | |
| | LOC130000241, LOC130000242 +934 more | Copy number gain | See cases | |
| | LOC129999967, LOC129999968 +870 more | Copy number gain | See cases | |
| | KAT6A-AS1, KCNU1 +929 more | Copy number gain | See cases | |
| | LOC130000074, LOC130000075 +929 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124153144, LOC124153145 +818 more | Copy number gain | See cases | |
| | LOC113788268, LOC113788269 +929 more | Copy number gain | See cases | |
| | LOC130000303, LOC130000304 +922 more | Copy number gain | See cases | |
| | LOC113788272, LOC113788273 +807 more | Copy number gain | See cases | |
| | LOC130000012, LOC130000013 +857 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000050, LOC130000051 +791 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000309, LOC130000310 +900 more | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC130000135, LOC130000136 +593 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Hypogonadotropic hypogonadism 2 with or without anosmia | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | 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 | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Hereditary spastic paraplegia 54 | |
| | | Duplication | Spastic paraplegia +3 more | |
| | | Complex | See cases | |
| | ADAMDEC1, ADGRA2 +251 more | Complex | 8p inverted duplication/deletion syndrome | |
| | | Copy number gain | Polydactyly | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |