| RS2138661203 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661213 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661224 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661244 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661266 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661267 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661305 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661361 |
FOXG1
|
Health Risk |
Likely pathogenic |
Lissencephaly, Lissencephaly |
| RS2138661370 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661375 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661390 |
FOXG1
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS2138661448 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661461 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661547 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661568 |
FOXG1
|
Health Risk |
Conflicting classifications of pathogenicity |
FOXG1 disorder, FOXG1 disorder |
| RS2138661638 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661742 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661744 |
FOXG1
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS2138661778 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661811 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, Rett syndrome |
| RS2138661836 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS2138661880 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661946 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138661969 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS2138662009 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138662268 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS2138662323 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2138662354 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS2138663895 |
SLC7A7
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS2138663905 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2138664054 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS2138666198 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2138666871 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS2138667239 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138667243 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138667313 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS2138668839 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138668970 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S |
| RS2138670306 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, MYH7-related disorder |
| RS2138671090 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S |
| RS2138671179 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138671758 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS2138672051 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138672244 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Cardiovascular phenotype |
| RS2138672545 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS2138672565 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
MYH7-related disorder, Hypertrophic cardiomyopathy |
| RS2138673853 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS2138673866 |
POLE
|
Health Risk |
Likely pathogenic |
— |
| RS2138673993 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Cardiovascular phenotype |
| RS2138674215 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS2138674428 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS2138674775 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS2138675399 |
MYH7
|
Health Risk |
Pathogenic |
— |
| RS2138675835 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS2138676189 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS2138677416 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS2138677574 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S |
| RS2138677703 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2138678956 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS2138679149 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS2138679418 |
MYH7
|
Health Risk |
Likely pathogenic |
— |
| RS2138680281 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138681177 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS2138681961 |
MYH7
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S |
| RS2138683978 |
MYH7
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S |
| RS2138684666 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138684765 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138686468 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2138689635 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2138690149 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS2138690983 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2138692842 |
POLE
|
Health Risk |
Likely pathogenic |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
| RS2138697841 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS2138698155 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138698246 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138698372 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2138698413 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138698697 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2138703427 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS2138703519 |
BRCA2
|
Health Risk |
Pathogenic |
Malignant tumor of breast, Malignant tumor of breast |
| RS2138703748 |
BRCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2138704192 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, BRCA2-related cancer predisposition |
| RS2138704300 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138704781 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138704833 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2138704850 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138705140 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138705179 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2138705357 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2138705883 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2138705929 |
BRCA2
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2138711868 |
SCN8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial infantile |
| RS2138716083 |
SCN8A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS2138716241 |
SCN8A
|
Health Risk |
Likely pathogenic |
— |
| RS2138716709 |
SCN8A
|
Health Risk |
Likely pathogenic |
— |
| RS2138726408 |
SOX5
|
Health Risk |
Pathogenic |
— |
| RS2138735536 |
SCN8A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2138735599 |
SCN8A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS2138735794 |
SCN8A
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2138739035 |
SCN8A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |