| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062964, LOC130062965 +321 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062906, LOC130062907 +222 more | Copy number loss | See cases | |
| | ABHD17A, ADAMTSL5 +219 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130063246, LOC130063247 +810 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Lipodystrophy, partial, acquired, susceptibility to +1 more | |
| | | Duplication | not provided | |
| | | Duplication | Cyclical neutropenia +1 more | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | ABHD17A, ADAMTSL5 +64 more | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |