| RS2544834748 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2544835648 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2544835915 |
BRIP1
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS2544836162 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2544836344 |
CCDC88A
|
Health Risk |
Pathogenic |
— |
| RS2544836633 |
CCDC88A
|
Health Risk |
Pathogenic |
— |
| RS2544837161 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2544837286 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544837337 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2544837759 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544837771 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2544837899 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS2544837915 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2544837995 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2544838229 |
BRIP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2544838613 |
BRIP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544839475 |
BRIP1
|
Health Risk |
Pathogenic |
Ovarian cancer, Ovarian cancer |
| RS2544839892 |
BRIP1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544840110 |
PRMT7
|
Health Risk |
Pathogenic |
— |
| RS2544840331 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840346 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840367 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840426 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840547 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840589 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840609 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840669 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2544840786 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840841 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840918 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2544840957 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2544840964 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544840970 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544840995 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544841054 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2544842904 |
CHD3
|
Health Risk |
Likely pathogenic |
CHD3-related disorder, CHD3-related disorder |
| RS2544842992 |
CHD3
|
Health Risk |
Pathogenic |
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |
| RS2544844679 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544844747 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544844763 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544844831 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544844866 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544845327 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544845356 |
SUFU
|
Health Risk |
Likely pathogenic |
Gorlin syndrome, Medulloblastoma |
| RS2544845417 |
PKD1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Polycystic kidney disease |
| RS2544845660 |
SUFU
|
Health Risk |
Pathogenic |
— |
| RS2544851099 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544851545 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544851865 |
CCDC88A
|
Health Risk |
Pathogenic |
— |
| RS2544851883 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS2544852242 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544852332 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544852424 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544852828 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544853323 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544853698 |
MRTFB
|
Health Risk |
Pathogenic |
MRTFB-related disorder, MRTFB-related disorder |
| RS2544854273 |
PKD1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Polycystic kidney disease |
| RS2544855475 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544855616 |
RRAGC
|
Health Risk |
Likely pathogenic |
See cases, Long-Olsen-Distelmaier syndrome |
| RS2544855797 |
RRAGC
|
Health Risk |
Pathogenic |
Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome |
| RS2544856541 |
ARMC5
|
Health Risk |
Pathogenic |
ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2 |
| RS2544858216 |
RRAGC
|
Health Risk |
Pathogenic |
Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome |
| RS2544859360 |
ARMC5
|
Health Risk |
Likely pathogenic |
ARMC5-related disorder, ARMC5-related disorder |
| RS2544860133 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544860522 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544860881 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544861242 |
PKD1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544861967 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544865527 |
MRTFB
|
Health Risk |
Pathogenic |
MRTFB-related disorder, MRTFB-related disorder |
| RS2544869651 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544869877 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544870113 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544870219 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544871660 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544871731 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544871753 |
PKD1
|
Health Risk |
Pathogenic |
PKD1-related disorder, PKD1-related disorder |
| RS2544871950 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544871993 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544872575 |
PKD1
|
Health Risk |
Pathogenic |
PKD1-related disorder, PKD1-related disorder |
| RS2544872834 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544875657 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544876023 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544876107 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544876167 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544877014 |
CHD3
|
Health Risk |
Pathogenic |
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |
| RS2544877617 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2544877719 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544878096 |
PKD1
|
Health Risk |
Pathogenic |
PKD1-related disorder, Autosomal dominant polycystic kidney disease |
| RS2544878899 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544879145 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544879304 |
PKD1
|
Health Risk |
Likely pathogenic |
PKD1-related disorder, PKD1-related disorder |
| RS2544879677 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544879772 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544880132 |
TRIM37
|
Health Risk |
Pathogenic |
— |
| RS2544880232 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544880243 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2544880304 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544880323 |
PKD1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544880396 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2544880665 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |