| RS63750349 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750352 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750353 |
PSEN1
|
Health Risk |
Likely pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750355 |
CHMP2B
|
Health Risk |
Pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS63750356 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750357 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750358 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750361 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750362 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750364 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS63750367 |
HBA2
|
Health Risk |
Pathogenic |
alpha Thalassemia, alpha Thalassemia |
| RS63750368 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750370 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS63750373 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750375 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63750376 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750377 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750379 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750380 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750382 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750384 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750385 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750386 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750391 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750393 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750396 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750398 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750399 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease type 1, Alzheimer disease |
| RS63750400 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, HBB-related disorder |
| RS63750401 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750402 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63750403 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750406 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750408 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750409 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750410 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750411 |
GRN
|
Health Risk |
Pathogenic |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11 |
| RS63750413 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS63750414 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750418 |
PSEN1
|
Health Risk |
Likely pathogenic |
— |
| RS63750420 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750424 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, MAPT-related disorder |
| RS63750425 |
MAPT
|
Health Risk |
Pathogenic |
Supranuclear palsy, progressive |
| RS63750426 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Carcinoma of colon |
| RS63750427 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder |
| RS63750428 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63750430 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750432 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750434 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63750437 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750439 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750440 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Lynch syndrome 5 |
| RS63750442 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750443 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750446 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750449 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750450 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750451 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 4, Lynch syndrome |
| RS63750453 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750456 |
PMS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750457 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum |
| RS63750458 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750459 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Abnormality of the eye |
| RS63750462 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750463 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750464 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750465 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750468 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750469 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63750470 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease, familial |
| RS63750471 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750472 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colorectal cancer |
| RS63750473 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750474 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750475 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS63750476 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750477 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750480 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750482 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750483 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750484 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750486 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750488 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Lynch syndrome 1 |
| RS63750489 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750490 |
PMS2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750491 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750493 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750494 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750495 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750496 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750498 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750499 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch-like syndrome |
| RS63750500 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750501 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750502 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750504 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63750507 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750508 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750511 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750512 |
MAPT
|
Health Risk |
Pathogenic/Likely pathogenic |
Pick disease, Frontotemporal dementia |