| RS878853495 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS878853497 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853498 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853509 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853518 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853522 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Carcinoma of colon |
| RS878853525 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS878853529 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853530 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS878853531 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS878853533 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS878853535 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853536 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878853538 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS878853544 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853545 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853546 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS878853553 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Bloom syndrome |
| RS878853556 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853557 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853558 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853559 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853560 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853561 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853562 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853563 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853564 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853565 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853566 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878853567 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853568 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853569 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853570 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853571 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853573 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853575 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853577 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853578 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853579 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853581 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853582 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853583 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853584 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853585 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853586 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853587 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853588 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853590 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853591 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853594 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853595 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853597 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853598 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853599 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853601 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878853605 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853608 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853609 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853611 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853614 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS878853616 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Malignant tumor of breast |
| RS878853619 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS878853625 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS878853626 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, CDKN1C-related disorder |
| RS878853629 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Hereditary cancer |
| RS878853630 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Inborn genetic diseases |
| RS878853632 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Inborn genetic diseases |
| RS878853636 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, IMAGe syndrome |
| RS878853637 |
CDKN1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS878853644 |
CDKN2A
|
Health Risk |
Likely pathogenic |
Familial melanoma, Familial melanoma |
| RS878853647 |
CDKN2A
|
Health Risk |
Pathogenic |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS878853648 |
CDKN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS878853650 |
CDKN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS878853651 |
COL3A1
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS878853652 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fibromuscular dysplasia, multifocal |
| RS878853654 |
TAFAZZIN
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS878853656 |
TAFAZZIN
|
Health Risk |
Pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS878853657 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, See cases |
| RS878853658 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS878853659 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS878853660 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS878853663 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS878853666 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS878853668 |
FANCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS878853671 |
FANCC
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS878853675 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853676 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS878853677 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS878853679 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS878853682 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853685 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853686 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS878853687 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853688 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853689 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS878853691 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS878853694 |
FH
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS878853695 |
FH
|
Health Risk |
Likely pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer |
| RS878853697 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease |
| RS878853698 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |