| RS2506275381 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2506280469 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS2506295278 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2506317139 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506318177 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506318271 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506318342 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506319191 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506319397 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506319680 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS2506320174 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506320726 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506320815 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506320907 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506331940 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506331963 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506332789 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS2506334991 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506335230 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506335630 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506336030 |
PALB2
|
Health Risk |
Pathogenic |
— |
| RS2506336717 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506336959 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506337371 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506337849 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506348014 |
PALB2
|
Health Risk |
Likely pathogenic |
Malignant tumor of breast, Malignant tumor of breast |
| RS2506348737 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506348819 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506349149 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506349749 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506350050 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506351360 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506351687 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506352068 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506359056 |
ATP2A1
|
Health Risk |
Likely pathogenic |
Brody myopathy, Brody myopathy |
| RS2506369573 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506369925 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506369952 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506370297 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506371794 |
PHKB
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506372023 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506372150 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506372227 |
PALB2
|
Health Risk |
Pathogenic |
— |
| RS2506372380 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506372450 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506372466 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506374385 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506377426 |
PHKB
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506377578 |
PHKB
|
Health Risk |
Likely pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506378006 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506395226 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506395256 |
PALB2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506395456 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506395620 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506395721 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary breast ovarian cancer syndrome |
| RS2506396018 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2506396546 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506396717 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506396824 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506396936 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2506397207 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506397508 |
OCA2
|
Health Risk |
Likely pathogenic |
OCA2-related disorder, OCA2-related disorder |
| RS2506397575 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506400245 |
OCA2
|
Health Risk |
Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS2506400688 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2506401864 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506401937 |
PALB2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506401975 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506402179 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506402593 |
PHKB
|
Health Risk |
Pathogenic |
Glycogen storage disease IXb, Glycogen storage disease IXb |
| RS2506402781 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506403400 |
NOD2
|
Health Risk |
Pathogenic |
Regional enteritis, Blau syndrome |
| RS2506403585 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506403717 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506404426 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506404518 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506404649 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506404802 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506404974 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506405176 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506405916 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506406330 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506407120 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506407851 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506408745 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506409634 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506410452 |
SCNN1B
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism, type IB2 |
| RS2506410860 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506411505 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506411822 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506412078 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506412613 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506412889 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS2506412992 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506413313 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506413914 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, PALB2-related cancer predisposition |
| RS2506414559 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506414595 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506414771 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506415158 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |