| RS2506480505 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506480937 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506480988 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506481423 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506481950 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506482028 |
CLN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506482111 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506482195 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506482646 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506482665 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506482713 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506483000 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506483030 |
CLN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS2506483378 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3 |
| RS2506483483 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506484093 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506484387 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506484397 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506484574 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506484710 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506484896 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506485216 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506485264 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506485402 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506485498 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506485904 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506485985 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506486000 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506486066 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506486737 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506486770 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506487128 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506487272 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506487275 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506487423 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506487537 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506487811 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506487913 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506487918 |
SALL1
|
Health Risk |
Likely pathogenic |
SALL1-related disorder, SALL1-related disorder |
| RS2506488161 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506488340 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506488587 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506488695 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506489045 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506489655 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506490234 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506490399 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506490833 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506491042 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506491466 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506491717 |
SCNN1B
|
Health Risk |
Likely pathogenic |
SCNN1B-related disorder, SCNN1B-related disorder |
| RS2506492063 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506492135 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506492224 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506492295 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506492441 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506492504 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506492767 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506492916 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506493255 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506493372 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2506493436 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506494090 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506494233 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506494280 |
PALB2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506494373 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS2506494395 |
SALL1
|
Health Risk |
Pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506494447 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2506494522 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506494740 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506494772 |
CLN3
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2506494808 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, SALL1-related disorder |
| RS2506495202 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2506495427 |
PALB2
|
Health Risk |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2506495474 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2506495554 |
SALL1
|
Health Risk |
Likely pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506495603 |
SALL1
|
Health Risk |
Pathogenic |
— |
| RS2506495630 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506495781 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506495873 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506495989 |
SALL1
|
Health Risk |
Pathogenic |
— |
| RS2506496202 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506496389 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506496434 |
SCNN1B
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism, type IB2 |
| RS2506496552 |
SALL1
|
Health Risk |
Pathogenic |
Townes syndrome, Townes syndrome |
| RS2506496675 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2506496921 |
SCNN1B
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism, type IB2 |
| RS2506497326 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506497427 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506497719 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506497835 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506498360 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Inherited breast cancer and ovarian cancer |
| RS2506498384 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506498622 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506498891 |
SALL1
|
Health Risk |
Likely pathogenic |
Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506498901 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506498947 |
SALL1
|
Health Risk |
Likely pathogenic |
SALL1-related disorder, SALL1-related disorder |
| RS2506499894 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506499986 |
PALB2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2506500182 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |