| | LOC130001752, LOC130001753 +1005 more | Copy number gain | See cases | |
| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | LOC130001810, LOC130001811 +1213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839555, LOC113839556 +1119 more | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +882 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001472, LOC130001473 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001652, LOC130001653 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001648, LOC130001649 +898 more | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | LOC130001569, LOC130001570 +897 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001690, LOC130001691 +585 more | Copy number gain | See cases | |
| | LOC130001818, LOC130001819 +690 more | Copy number gain | See cases | |
| | LOC126860615, LOC126860616 +435 more | Copy number gain | See cases | |
| | LOC130001735, LOC130001736 +503 more | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 | |
| | | Duplication | not provided | |
| | | Deletion | Spastic paraplegia | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Duplication | 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 | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | SPATA31A5, SPATA31A6 +257 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Inversion | Abnormal chromosome morphology +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Glioma | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | CNTNAP3, CNTNAP3B +204 more | 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 | |
| | | 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 | |
| | | Copy number gain | See cases | |