| RS1060502543 |
KIT
|
Health Risk |
Pathogenic/Likely pathogenic |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1060502547 |
KIT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1060502551 |
KIT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1060502563 |
KIT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1060502571 |
KIT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1060502576 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS1060502579 |
RUNX1
|
Health Risk |
Pathogenic |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome |
| RS1060502581 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS1060502584 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS1060502586 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502587 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |
| RS1060502588 |
RAD51C
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502589 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502590 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502591 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502592 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502593 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502594 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502595 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502597 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502599 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502601 |
RAD51C
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group O, Breast-ovarian cancer |
| RS1060502602 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502603 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502604 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502605 |
RAD51C
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502606 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS1060502607 |
CALM3
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Long QT syndrome 16 |
| RS1060502608 |
CALM3
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Long QT syndrome 1 |
| RS1060502612 |
EMD
|
Health Risk |
Pathogenic |
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS1060502613 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502615 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502616 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Dystrophin deficiency |
| RS1060502619 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1060502620 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502621 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502623 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502624 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502625 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502626 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502627 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502628 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502629 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502630 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502631 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502632 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502633 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502634 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502635 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502636 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502637 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502639 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS1060502640 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502641 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502643 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502644 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502645 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502646 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502647 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502648 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502652 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502653 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502656 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502659 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502661 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1060502664 |
PNPLA6
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS1060502665 |
GABRB3
|
Health Risk |
Pathogenic |
Epilepsy, childhood absence |
| RS1060502666 |
GABRB3
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, childhood absence |
| RS1060502671 |
SKI
|
Health Risk |
Pathogenic |
Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS1060502684 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502687 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1060502688 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502698 |
CHEK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502701 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502708 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502710 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502716 |
CHEK2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502720 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502721 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502722 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502725 |
WASHC5
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome |
| RS1060502726 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502727 |
WWOX
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy |
| RS1060502734 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502735 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502737 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502738 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502739 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502741 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502747 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502748 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group N |
| RS1060502757 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502758 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502759 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502760 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502761 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502764 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502765 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502766 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1060502768 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |