| RS2552180969 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552181197 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552181678 |
UBE3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Angelman syndrome, Angelman syndrome |
| RS2552181680 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552181688 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552181695 |
UBE3A
|
Health Risk |
Pathogenic |
UBE3A-related disorder, UBE3A-related disorder |
| RS2552181706 |
UBE3A
|
Health Risk |
Pathogenic |
UBE3A-related disorder, UBE3A-related disorder |
| RS2552181711 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552181746 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552181944 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552182149 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552182200 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552182232 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552182258 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2552182305 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552182321 |
UBE3A
|
Health Risk |
Pathogenic |
— |
| RS2552182707 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552182764 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2552182879 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552182964 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552182985 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552182990 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552183224 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2552183398 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552183468 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552183662 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552183680 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552183816 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552183820 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552183839 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552183886 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552183902 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552184121 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552184147 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552184207 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552184215 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552184281 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2552184882 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2552185315 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552185400 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552185651 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS2552185674 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552185681 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2552185858 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552185962 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552185992 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552185996 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552186265 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2552186527 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552186598 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552186613 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552186646 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552186766 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552186867 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS2552186870 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552187052 |
UBE3A
|
Health Risk |
Pathogenic |
— |
| RS2552187375 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552187400 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552187404 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552187485 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552187612 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552188102 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552188174 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552188272 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552188288 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552188443 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552188577 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552188800 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552188875 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552188966 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552188970 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552188977 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189013 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189026 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS2552189066 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552189324 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189361 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189448 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189462 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189471 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552189867 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552190072 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190253 |
BRCA1
|
Health Risk |
Likely pathogenic |
— |
| RS2552190424 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552190469 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552190497 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190517 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190521 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190528 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS2552190536 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190539 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190556 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552190584 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552190792 |
BRCA1
|
Health Risk |
Pathogenic |
— |
| RS2552190906 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552191223 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552191244 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552191258 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552191496 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS2552191543 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |