| RS587780683 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon |
| RS587780684 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780685 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780686 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS587780687 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1 |
| RS587780688 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780689 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780692 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780697 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780699 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780700 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780705 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780707 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780708 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780709 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS587780710 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS587780711 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS587780715 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587780716 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587780717 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587780718 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587780721 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS587780722 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780724 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS587780725 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS587780730 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS587780731 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS587780732 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS587780736 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1, Renal cell carcinoma |
| RS587780739 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS587780740 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Papillary renal cell carcinoma type 1, Renal cell carcinoma |
| RS587780741 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780742 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780744 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780745 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780746 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780747 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780748 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780749 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780751 |
MUTYH
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS587780752 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2 |
| RS587780757 |
PALLD
|
Health Risk |
Conflicting classifications of pathogenicity |
Pancreatic adenocarcinoma, PALLD-related disorder |
| RS587780760 |
PALLD
|
Health Risk |
Conflicting classifications of pathogenicity |
Pancreatic adenocarcinoma, Pancreatic cancer |
| RS587780765 |
EPCAM
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS587780773 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS587780783 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS587780784 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587780787 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587780788 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587780789 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS587780792 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS587780793 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS587780794 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780798 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS587780802 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780805 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS587780809 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780812 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780813 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780814 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780815 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780816 |
RET
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 2 |
| RS587780817 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS587780820 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587780821 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587780822 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587780823 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587780824 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587780825 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780827 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780828 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780830 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780832 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780833 |
BRIP1
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780836 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS587780838 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS587780839 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS587780840 |
RAD51C
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS587780843 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS587780844 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS587780846 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R |
| RS587780849 |
AKAP9
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS587780872 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587780873 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS587780875 |
BRIP1
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS587780881 |
CACNA1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Long QT syndrome |
| RS587780896 |
CLN5
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS587780903 |
CNTNAP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS587780905 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS587780910 |
COX10
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS587780911 |
COX10
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587780914 |
CTSD
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS587780917 |
CTSD
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10 |
| RS587780938 |
EPM2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS587780948 |
GABRG2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587780965 |
TNFRSF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome |
| RS587780967 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS587780980 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS587780981 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS587780985 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |