| RS63750513 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS63750515 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750516 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750517 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750520 |
HBA2
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN WAYNE, alpha Thalassemia |
| RS63750521 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750523 |
MSH6
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS63750526 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750527 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750532 |
HBB
|
Health Risk |
Pathogenic |
Beta zero thalassemia, Hemoglobinopathy |
| RS63750533 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750534 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms |
| RS63750538 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750539 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750540 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750541 |
GRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750542 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750545 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750547 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Colon cancer |
| RS63750548 |
GRN
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions |
| RS63750549 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS63750550 |
PSEN1
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750551 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750552 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 5 |
| RS63750554 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750555 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS63750556 |
HBB
|
Health Risk |
Pathogenic |
beta Thalassemia, beta Thalassemia |
| RS63750557 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750558 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750559 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750560 |
OSMR
|
Health Risk |
Pathogenic |
Amyloidosis, primary localized cutaneous |
| RS63750561 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750563 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750564 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750567 |
OSMR
|
Health Risk |
Likely pathogenic |
Amyloidosis, primary localized cutaneous |
| RS63750568 |
MAPT
|
Health Risk |
Pathogenic/Likely pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750570 |
MAPT
|
Health Risk |
Pathogenic |
Frontotemporal dementia, Frontotemporal dementia |
| RS63750571 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750572 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750574 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750577 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Alzheimer disease 3 |
| RS63750579 |
APP
|
Health Risk |
Pathogenic |
ABeta amyloidosis, dutch type |
| RS63750580 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750581 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750582 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750583 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750584 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS63750586 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750587 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750589 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750590 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease 3, Pick disease |
| RS63750592 |
PSEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alzheimer disease, Alzheimer disease 3 |
| RS63750597 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750599 |
PSEN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Alzheimer disease, familial |
| RS63750600 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS63750602 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS63750603 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome 1 |
| RS63750604 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750608 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS63750610 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750611 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750614 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750615 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750617 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750618 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750622 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS63750623 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750624 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750628 |
HBB
|
Health Risk |
Conflicting classifications of pathogenicity |
beta Thalassemia, Hb SS disease |
| RS63750630 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Colonic diverticula |
| RS63750631 |
PSEN1
|
Health Risk |
Pathogenic |
Alzheimer disease, familial |
| RS63750633 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750635 |
MAPT
|
Health Risk |
Pathogenic |
Pick disease, Frontotemporal dementia |
| RS63750636 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750639 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750640 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750641 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750642 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750643 |
APP
|
Health Risk |
Pathogenic |
Alzheimer disease type 1, Alzheimer disease |
| RS63750644 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750645 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750646 |
PSEN1
|
Health Risk |
Pathogenic |
— |
| RS63750647 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS63750648 |
MLH1
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS63750649 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS63750652 |
CHMP2B
|
Health Risk |
Pathogenic |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Cervical cancer |
| RS63750654 |
HBG2
|
Health Risk |
Pathogenic |
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS63750656 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS63750657 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS63750658 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750662 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS63750663 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch-like syndrome |
| RS63750668 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS63750669 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS63750670 |
ACADVL
|
Health Risk |
Pathogenic |
Rhabdomyolysis, Abnormal circulating enzyme concentration |
| RS63750671 |
APP
|
Health Risk |
Pathogenic |
ABetaA21G amyloidosis, Alzheimer disease type 1 |
| RS63750675 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS63750677 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Muir-Torré syndrome |
| RS63750678 |
HBA2
|
Health Risk |
Pathogenic |
Hemoglobin H disease, nondeletional |
| RS63750682 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |