| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | LOC110120787, LOC110121237 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | 4p16.3 microduplication syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FAM200B, FBXL5 (I59F +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FGFBP1, LOC126806998 +393 more | Copy number loss | 4p partial monosomy syndrome | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | FETAL DEMISE | |
| | | Copy number loss | 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 | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Inversion | Dihydropteridine reductase deficiency | |
| | | 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 loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant +1 more) | Malignant tumor of prostate | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992303, LOC132089075 +365 more | Copy number loss | See cases | |
| | TRMT44, USP17L10 +633 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992257, LOC129992258 +623 more | Copy number loss | See cases | |
| | LOC129992143, LOC129992144 +618 more | Copy number gain | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123477718, LOC123477719 +987 more | Copy number gain | See cases | |
| | USP17L13, USP17L15 +716 more | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +861 more | Copy number gain | See cases | |
| | LOC129992238, LOC129992239 +659 more | Copy number loss | See cases | |
| | LOC129992188, LOC129992189 +832 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |