| RS864622358 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS864622363 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622365 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS864622367 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS864622369 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS864622372 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Neurofibromatosis |
| RS864622373 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622374 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS864622376 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS864622380 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622381 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622384 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622387 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS864622389 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622393 |
RAD50
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS864622394 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS864622395 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome |
| RS864622396 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622397 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622399 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622400 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622401 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622402 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622408 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS864622410 |
SPRED1
|
Health Risk |
Pathogenic/Likely pathogenic |
Legius syndrome, Noonan syndrome and Noonan-related syndrome |
| RS864622411 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622412 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Malignant tumor of breast |
| RS864622415 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622416 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622419 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS864622426 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622427 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622431 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS864622434 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622435 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622436 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS864622444 |
BRCA1
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622446 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622448 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622450 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS864622451 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Neoplasm |
| RS864622453 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622454 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622455 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS864622456 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS864622457 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622465 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622466 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622476 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622479 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622480 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy |
| RS864622481 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622488 |
STK11
|
Health Risk |
Pathogenic/Likely pathogenic |
Peutz-Jeghers syndrome, Familial pancreatic carcinoma |
| RS864622490 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622498 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622499 |
NEFL
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases |
| RS864622501 |
GDAP1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS864622507 |
SPG7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 7, SPG7-related disorder |
| RS864622508 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622509 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS864622511 |
NBN
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS864622512 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS864622513 |
GDF1
|
Health Risk |
Conflicting classifications of pathogenicity |
GDF1-related disorder, GDF1-related disorder |
| RS864622520 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia |
| RS864622523 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS864622526 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622530 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622536 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622543 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS864622545 |
VHL
|
Health Risk |
Pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS864622546 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622550 |
FANCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS864622551 |
EVI2A;NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS864622552 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622553 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622557 |
ALDH7A1
|
Health Risk |
Pathogenic |
Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy |
| RS864622558 |
ALDH7A1
|
Health Risk |
Likely pathogenic |
Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy |
| RS864622559 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622568 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622570 |
CDKN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial melanoma, Hereditary cancer-predisposing syndrome |
| RS864622572 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622573 |
BRCA2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622574 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS864622579 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS864622580 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS864622582 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer |
| RS864622583 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS864622585 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS864622588 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS864622589 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS864622592 |
BAP1
|
Health Risk |
Pathogenic |
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS864622597 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622598 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS864622600 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS864622607 |
MSH6
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS864622609 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS864622610 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS864622611 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS864622613 |
CHEK2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS864622615 |
MEN1
|
Health Risk |
Pathogenic |
Multiple endocrine neoplasia, type 1 |