| RS63751013 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751015 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751017 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751018 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751020 |
GRN
|
Health Risk |
Likely pathogenic |
— |
| RS63751021 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS63751022 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63751023 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS63751024 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751027 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751028 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751029 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751032 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63751035 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia |
| RS63751036 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63751037 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63751039 |
APP
|
Health Risk |
Pathogenic |
ABeta amyloidosis, Arctic type |
| RS63751044 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colon cancer |
| RS63751045 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751049 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751054 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751055 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751056 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751057 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Adult onset neurodegenerative disorder |
| RS63751058 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751059 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751061 |
NDUFAF4
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS63751063 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS63751068 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63751069 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751070 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63751073 |
FAM171A2;GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751074 |
GRN
|
Health Risk |
Conflicting classifications of pathogenicity |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751076 |
HBB
|
Health Risk |
Likely pathogenic |
Beta zero thalassemia, Hemoglobinopathy |
| RS63751077 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751079 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751081 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751083 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS63751085 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751086 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63751087 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751089 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Muir-Torré syndrome |
| RS63751090 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751092 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751094 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751097 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751099 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751100 |
GRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751101 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751102 |
PSEN1
|
Health Risk |
Pathogenic |
Adult onset neurodegenerative disorder, Adult onset neurodegenerative disorder |
| RS63751105 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751106 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751107 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751108 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome |
| RS63751109 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63751110 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751111 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63751113 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751115 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751117 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751118 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751119 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751120 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751121 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751123 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751124 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63751125 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751126 |
CHMP2B
|
Health Risk |
Likely pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS63751127 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751128 |
HBB
|
Health Risk |
Pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS63751129 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751130 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751131 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751132 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS63751133 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751136 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63751137 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751139 |
PSEN1
|
Health Risk |
Pathogenic |
Early-onset autosomal dominant Alzheimer disease, Pick disease |
| RS63751140 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751141 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751142 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751143 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751144 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751145 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751147 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751149 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751150 |
HBA1
|
Health Risk |
Pathogenic |
HEMOGLOBIN TAYBE, alpha Thalassemia |
| RS63751153 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751155 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751156 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751158 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63751159 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751160 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751161 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751163 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751165 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63751166 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751167 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751168 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751169 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |