| | | Copy number gain | See cases | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC130001533, LOC130001534 +1213 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 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 | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DAPK1-IT1, DCAF10 +1366 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001787, LOC130001788 +983 more | Copy number gain | See cases | |
| | LOC130001685, LOC130001686 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC126860590, LOC126860591 +897 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001651, LOC130001652 +585 more | Copy number gain | See cases | |
| | LOC130001669, LOC130001670 +690 more | Copy number gain | See cases | |
| | LOC130001706, LOC130001707 +435 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001670, LOC130001671 +360 more | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | LOC130001763, LOC730098 +211 more | Copy number loss | See cases | |
| | LOC129662434, LOC130001682 +138 more | Duplication | Anauxetic dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Anauxetic dysplasia | |
| | | Duplication | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | Bradycardia | |
| | | Copy number gain | Tetrasomy 9p | |
| | | Copy number gain | not specified | |
| | CDKN2B-AS1, ABHD17B +257 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | Duplication | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Inversion | Recurrent spontaneous abortion +1 more | |
| | ALDH1B1, ANKRD18A +74 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 | |
| | | Complex | Glioma | |
| | | Duplication | Autosomal recessive distal spinal muscular atrophy 2 +1 more | |
| | | Deletion | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | 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 | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus | |
| | | Duplication | Hyperphosphatasia with intellectual disability syndrome 2 | |
| | | 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 | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |