| | LOC129993624, LOC129993625 +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +553 more | Copy number loss | See cases | |
| | LOC129993692, LOC129993693 +561 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +697 more | Copy number loss | See cases | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LOC132090721, LOC132090722 +556 more | Copy number loss | See cases | |
| | LOC108254683, LOC110120635 +559 more | Copy number gain | See cases | |
| | ADAMTS16, ADAMTS16-DT +561 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +606 more | Copy number loss | See cases | |
| | LOC126807328, LOC126807329 +559 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +642 more | Copy number gain | See cases | |
| | LOC129993561, LOC129993562 +552 more | Copy number loss | See cases | |
| | ADAMTS16, ADAMTS16-DT +574 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | LINC02116, LINC02120 +696 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +657 more | Copy number loss | See cases | |
| | ADAMTS12, ADAMTS16 +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) | not specified | |
| | | 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 (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 +2 more) | not specified | |
| | | 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) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | 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) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | 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 | Hypermetropia +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 | |