| RS63750150 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750152 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750158 |
HBA2
|
Health Risk |
Pathogenic |
alpha Thalassemia, alpha Thalassemia |
| RS63750160 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750161 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750162 |
MAPT
|
Health Risk |
Conflicting classifications of pathogenicity |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750192 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750193 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750194 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750196 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750198 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750199 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750200 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750203 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750205 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63750206 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Mismatch repair cancer syndrome 1 |
| RS63750210 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750211 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750212 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750214 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750215 |
PSEN2
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS63750216 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750217 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS63750218 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750219 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 3, Alzheimer disease |
| RS63750223 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63750224 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Endometrial carcinoma |
| RS63750226 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750227 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pick disease, Frontotemporal dementia |
| RS63750230 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750231 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750232 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750233 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750234 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750242 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750245 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750246 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750247 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750248 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750250 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750253 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS63750257 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63750258 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750261 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750262 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750264 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease, Alzheimer disease type 1 |
| RS63750265 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63750266 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63750267 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750271 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750273 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63750276 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750279 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750280 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750281 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750282 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750283 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63750287 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750289 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750291 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750292 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750293 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750294 |
HBA2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS63750296 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750297 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750298 |
PSEN1
|
Health Risk |
Likely pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63750300 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750301 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Dementia, Mental deterioration |
| RS63750302 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750303 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750305 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750306 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750308 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750309 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63750310 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750311 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750312 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750313 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750314 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750315 |
PLEKHG5
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronopathy, distal hereditary motor |
| RS63750316 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750317 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750318 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750319 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750320 |
HBB
|
Health Risk |
Likely pathogenic |
Hemoglobinopathy, Hemoglobinopathy |
| RS63750322 |
PSEN1
|
Health Risk |
Likely pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750323 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Thyroid cancer |
| RS63750327 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750328 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS63750329 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750330 |
MSH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63750331 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750334 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750335 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750337 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750339 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750342 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750345 |
HBD
|
Health Risk |
Pathogenic |
delta Thalassemia, delta Thalassemia |
| RS63750346 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750347 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |