| RS63751172 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63751173 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63751175 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
beta Thalassemia, HBB-related disorder |
| RS63751177 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751180 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751191 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751192 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63751193 |
GRN
|
Health Risk |
Pathogenic |
— |
| RS63751194 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS63751195 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751197 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63751199 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751200 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751201 |
HBB
|
Health Risk |
Pathogenic; other |
Beta zero thalassemia, HEMOGLOBIN MANHATTAN |
| RS63751202 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63751206 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751207 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 1, Lynch syndrome |
| RS63751208 |
HBB
|
Health Risk |
Pathogenic |
BETA-PLUS-THALASSEMIA, beta Thalassemia |
| RS63751210 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pick disease, Frontotemporal dementia |
| RS63751211 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751214 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751215 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63751218 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS63751219 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751220 |
GDF6
|
Health Risk |
Conflicting classifications of pathogenicity |
Klippel-Feil syndrome 1, autosomal dominant |
| RS63751221 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63751223 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 3, Pick disease |
| RS63751224 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751225 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63751226 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colon cancer |
| RS63751227 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751228 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751229 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751232 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63751234 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome 5 |
| RS63751235 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Early-onset autosomal dominant Alzheimer disease |
| RS63751236 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751240 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751241 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63751243 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751244 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751246 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751247 |
MLH1
|
Health Risk |
Pathogenic |
Mismatch repair cancer syndrome 1, Lynch syndrome |
| RS63751255 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63751257 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63751259 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751260 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751264 |
MAPT
|
Health Risk |
Pathogenic |
Pick disease, Pick disease |
| RS63751265 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS63751266 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751268 |
HBA2
|
Health Risk |
Pathogenic/Likely pathogenic |
alpha Thalassemia, Heinz body anemia |
| RS63751269 |
HBA2
|
Health Risk |
Pathogenic |
alpha Thalassemia, Hemoglobin H disease |
| RS63751270 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751271 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751272 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751273 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Pick disease |
| RS63751274 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751275 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751277 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751278 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pick disease, Frontotemporal dementia |
| RS63751283 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751287 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63751288 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751290 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751291 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751294 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63751296 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751297 |
ASPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Canavan Disease, Familial Form |
| RS63751298 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63751299 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Uterine corpus cancer |
| RS63751300 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751301 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751302 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63751306 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63751307 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751309 |
PSEN1
|
Health Risk |
Likely pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63751310 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751312 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63751315 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751316 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pick disease, Frontotemporal dementia |
| RS63751317 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751318 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63751319 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 5 |
| RS63751321 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751325 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63751326 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751327 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751328 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751391 |
MAPT
|
Health Risk |
Pathogenic |
Supranuclear palsy, progressive |
| RS63751392 |
MAPT
|
Health Risk |
Pathogenic |
Parkinson disease, late-onset |
| RS63751393 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751394 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63751396 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63751399 |
PSEN1
|
Health Risk |
Likely pathogenic |
Frontotemporal dementia, Alzheimer disease 3 |
| RS63751401 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63751403 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63751405 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63751406 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63751407 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 5, Lynch syndrome |
| RS63751408 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |