| RS80359735 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359736 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80359737 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359738 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359739 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359741 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359742 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359743 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359744 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359745 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359746 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359747 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359748 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359749 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80359750 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359751 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359752 |
BRCA2
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80359753 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359754 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80359755 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359756 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359757 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359758 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359759 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359760 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80359761 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359762 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359763 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359764 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359766 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359767 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359769 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359770 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80359771 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80359772 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS80359773 |
BRCA2
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group D1, Breast-ovarian cancer |
| RS80359774 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359775 |
BRCA2
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80359776 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359777 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359782 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS80359787 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS80359788 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS80359790 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80359791 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS80359800 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80359802 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80359803 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80359808 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359812 |
SLC2A1
|
Health Risk |
Pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1 |
| RS80359814 |
SLC2A1
|
Health Risk |
Pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS80359815 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359816 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359818 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2 |
| RS80359819 |
SLC2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, GLUT1 deficiency syndrome |
| RS80359820 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS80359821 |
SLC2A1
|
Health Risk |
Likely pathogenic |
— |
| RS80359823 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1 |
| RS80359824 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Encephalopathy due to GLUT1 deficiency |
| RS80359825 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
GLUT1 deficiency syndrome, Encephalopathy due to GLUT1 deficiency |
| RS80359826 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359827 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359828 |
SLC2A1
|
Health Risk |
Pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS80359829 |
SLC2A1
|
Health Risk |
Pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS80359832 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359835 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359837 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS80359838 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS80359841 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359843 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS80359844 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359845 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359846 |
ESCO2
|
Health Risk |
Pathogenic |
ESCO2-related disorder, Juberg-Hayward syndrome |
| RS80359847 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Inborn genetic diseases |
| RS80359848 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359849 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359850 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359851 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359852 |
ESCO2
|
Health Risk |
Pathogenic |
ESCO2-related disorder, Roberts-SC phocomelia syndrome |
| RS80359855 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359856 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359857 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359858 |
ESCO2
|
Health Risk |
Pathogenic/Likely pathogenic |
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359859 |
ESCO2
|
Health Risk |
Pathogenic/Likely pathogenic |
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359861 |
ESCO2
|
Health Risk |
Pathogenic |
Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome |
| RS80359862 |
ESCO2
|
Health Risk |
Pathogenic/Likely pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359864 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359865 |
ESCO2
|
Health Risk |
Likely pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359867 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359868 |
ESCO2
|
Health Risk |
Likely pathogenic |
Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome |
| RS80359869 |
ESCO2
|
Health Risk |
Pathogenic |
Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome |
| RS80359870 |
CACNA1F
|
Health Risk |
Pathogenic |
Congenital stationary night blindness 2A, CACNA1F-related disorder |
| RS80359871 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359872 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359873 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359874 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359875 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359876 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359878 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80359879 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |