| | LOC129993638, LOC129993639 +559 more | Copy number loss | See cases | |
| | LOC129993741, LOC129993742 +553 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +561 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +697 more | Copy number loss | See cases | |
| | LOC123497907, LOC123497908 +1445 more | Copy number gain | See cases | |
| | MIR4458HG, MIR4635 +556 more | Copy number loss | See cases | |
| | LOC129993539, LOC129993540 +559 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +561 more | Copy number loss | See cases | |
| | LOC129993673, LOC129993674 +559 more | Copy number loss | See cases | |
| | LOC123493263, LOC123493264 +606 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +642 more | Copy number gain | See cases | |
| | LOC129993669, LOC129993670 +552 more | Copy number loss | See cases | |
| | LOC129993547, LOC129993548 +574 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807356, LOC128772262 +696 more | Copy number gain | See cases | |
| | LOC129993840, LOC129993841 +952 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +657 more | Copy number loss | See cases | |
| | LOC129993646, LOC129993647 +530 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | ADAMTS12, ADAMTS16 +89 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 5p partial monosomy syndrome | |
| | MARCHF11, MARCHF6 +67 more | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number gain | not provided | |
| | ADAMTS12, ADAMTS16 +90 more | Copy number gain | not provided | |
| | | Copy number gain | Global developmental delay +4 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +82 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |