| RS63749831 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome |
| RS63749832 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749834 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS63749836 |
PSEN1
|
Health Risk |
Likely pathogenic |
Alzheimer disease 3, Dilated cardiomyopathy 1U |
| RS63749837 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749838 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749839 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63749843 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749844 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63749845 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749846 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63749848 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749849 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749850 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749851 |
PSEN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS63749852 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749853 |
GRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63749854 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749855 |
MAPT
|
Health Risk |
Pathogenic |
— |
| RS63749856 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum |
| RS63749859 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749862 |
PMS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749863 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63749867 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749868 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749869 |
RYR1
|
Health Risk |
Pathogenic |
Central core myopathy, RYR1-related disorder |
| RS63749871 |
FGD4
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease |
| RS63749872 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749873 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63749874 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749876 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749877 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63749878 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749880 |
PSEN1
|
Health Risk |
Pathogenic |
— |
| RS63749882 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN O (BUGINESE-X), HEMOGLOBIN O (OLIVIERE) |
| RS63749884 |
PSEN2
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS63749885 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63749886 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749887 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749888 |
CISD2
|
Health Risk |
Pathogenic |
Wolfram syndrome 2, Wolfram syndrome 2 |
| RS63749889 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749891 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease, familial |
| RS63749893 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS63749897 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749899 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749900 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749902 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63749903 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749905 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63749906 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749907 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749908 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63749909 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749912 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS63749913 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749914 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63749915 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749916 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63749917 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749919 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749920 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749923 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749924 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749925 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alzheimer disease 3, Acne inversa |
| RS63749926 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749927 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN J (BIRMINGHAM), HEMOGLOBIN J (MEERUT) |
| RS63749929 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749930 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749932 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749936 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749938 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 5 |
| RS63749939 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS63749942 |
MSH6
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749944 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749945 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749947 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749948 |
HBA1
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN PETAH TIKVA, alpha Thalassemia |
| RS63749949 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63749950 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749953 |
APP
|
Health Risk |
Conflicting classifications of pathogenicity |
APP-related disorder, APP-related disorder |
| RS63749955 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63749956 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749957 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63749959 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63749960 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, Beta-thalassemia HBB/LCRB |
| RS63749963 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749964 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease type 1, Alzheimer disease type 1 |
| RS63749965 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749969 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63749971 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749972 |
CCNQ
|
Health Risk |
Pathogenic |
Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| RS63749973 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS63749974 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63749975 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63749977 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63749979 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63749980 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63749981 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749982 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63749983 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |