| RS63750843 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750844 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch-like syndrome |
| RS63750845 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750849 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750850 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750851 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease, Alzheimer disease |
| RS63750854 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750855 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750857 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750858 |
PSEN1
|
Health Risk |
Likely pathogenic |
Visual hallucination, Dementia |
| RS63750859 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750864 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1 |
| RS63750865 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750866 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750867 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750868 |
APP
|
Health Risk |
Pathogenic |
APP-related disorder, APP-related disorder |
| RS63750869 |
MAPT
|
Health Risk |
Conflicting classifications of pathogenicity |
Frontotemporal dementia, MAPT-related disorder |
| RS63750870 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750871 |
PMS2
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 4, Lynch syndrome |
| RS63750872 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750873 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750874 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750875 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750876 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750877 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750878 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750881 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750882 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750884 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750885 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750886 |
PSEN1
|
Health Risk |
Pathogenic |
Spastic paraparesis, Alzheimer disease 3 |
| RS63750887 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750889 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750891 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63750893 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750894 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750896 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750899 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS63750900 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Pick disease |
| RS63750901 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS63750902 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750903 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750904 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750906 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Carcinoma of colon |
| RS63750908 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750909 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Lynch syndrome 5 |
| RS63750910 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750912 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750913 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750921 |
APP
|
Health Risk |
Likely pathogenic |
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED |
| RS63750924 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750928 |
HBB
|
Health Risk |
Likely pathogenic |
HEMOGLOBIN LEIDEN, HEMOGLOBIN LEIDEN |
| RS63750929 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750930 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer |
| RS63750933 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750934 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750936 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750937 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS63750938 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750940 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 5 |
| RS63750947 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750948 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750949 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750950 |
HBA1
|
Health Risk |
Pathogenic; other |
HEMOGLOBIN SASSARI, Erythrocytosis |
| RS63750951 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750952 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750953 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
Beta thalassemia intermedia, 8 conditions |
| RS63750954 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS63750955 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome |
| RS63750957 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750959 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Supranuclear palsy |
| RS63750960 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750961 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750962 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750963 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750964 |
PSEN1
|
Health Risk |
Pathogenic |
Early onset Alzheimer disease with behavioral disturbance, Alzheimer disease 3 |
| RS63750966 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750970 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Lynch syndrome 1 |
| RS63750971 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750972 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750973 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease type 1, Alzheimer disease |
| RS63750978 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750984 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750985 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750986 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750987 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750993 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750994 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS63750995 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750996 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750997 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750998 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751001 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63751003 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alzheimer disease 3, Frontotemporal dementia |
| RS63751004 |
MSH2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Lynch syndrome 1 |
| RS63751006 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751007 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63751009 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751011 |
MAPT
|
Health Risk |
Likely pathogenic |
Frontotemporal dementia, Mental deterioration |
| RS63751012 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |