| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | LOC132089736, LOC132089737 +313 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | 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 (missense variant +1 more) | Mycotic Aneurysm, Intracranial | |
| | | 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 +2 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 | |
| | NCBP1, XPA (R211H +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (D250Y +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (A105T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (H363R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (E578Q +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (D539G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (R440C +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (R493K +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (I530V +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (R537G +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | NCBP1, XPA (P709T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Duplication | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Nephronophthisis | |
| | | Copy number loss | Gorlin syndrome | |
| | | Deletion | Intellectual disability | |
| | | Copy number loss | See cases | |
| | | Duplication | Epileptic encephalopathy | |
| | | Copy number gain | not provided | |
| | | Inversion | Recurrent spontaneous abortion +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |