| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Deletion | ALG9 congenital disorder of glycosylation | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Duplication | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not provided | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Duplication | Paragangliomas 1 +3 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Pheochromocytoma +3 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
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