| | | Deletion (frameshift variant +1 more) | Familial adenomatous polyposis 2 | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Lynch syndrome | |
| | ATRIP, ATRIP-TREX1
+1 more (L287fs +1 more) | Duplication (non-coding transcript variant +2 more) | Chilblain lupus 1 +2 more | |
| | | Duplication (frameshift variant) | Rapp-Hodgkin ectodermal dysplasia syndrome | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Salla disease | |
| | | Duplication (frameshift variant) | Pancytopenia due to IKZF1 mutations | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | Hypertrophic cardiomyopathy | |
| | | Duplication (frameshift variant) | Telangiectasia, hereditary hemorrhagic, type 5 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Indel (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Tyrosinemia type I | |
| | | Duplication (frameshift variant) | Renal cysts and diabetes syndrome | |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Indel (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Indel (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +1 more) | Hereditary breast ovarian cancer syndrome | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +1 more) | Hereditary breast ovarian cancer syndrome | |
| | | Deletion (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +1 more | |
| | | Deletion (frameshift variant +1 more) | Familial hemophagocytic lymphohistiocytosis 5 | |
| | | Duplication (frameshift variant) | Familial cancer of breast | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial cancer of breast | |
| | | Insertion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | LOC106050102, IDS (L287fs +1 more) | Deletion (frameshift variant) | Mucopolysaccharidosis, MPS-II | |