| RS2552247380 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy, Nemaline myopathy |
| RS2552247669 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552247675 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552247699 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Arthrogryposis multiplex congenita 6, Nemaline myopathy 2 |
| RS2552247709 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Arthrogryposis multiplex congenita 6, Nemaline myopathy 2 |
| RS2552247718 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552248313 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552248320 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552248324 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552249684 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552249878 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552249907 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Arthrogryposis multiplex congenita 6, Nemaline myopathy 2 |
| RS2552249925 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552249937 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552249944 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552250616 |
BRCA1
|
Health Risk |
Pathogenic |
— |
| RS2552250735 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552250848 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552250937 |
BRCA1
|
Health Risk |
Pathogenic |
— |
| RS2552251128 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552251162 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552251454 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552251752 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552251957 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552252010 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552252029 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552252205 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552252217 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252226 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252586 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552252600 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252604 |
NEB
|
Health Risk |
Likely pathogenic |
— |
| RS2552252619 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252624 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252628 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552252639 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252653 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252667 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252715 |
NEB
|
Health Risk |
Pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552252838 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252876 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252911 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552252921 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252923 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552252981 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552253025 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254007 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552254053 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552254223 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254230 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254240 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254246 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254255 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552254257 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254265 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552254269 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552254394 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552254599 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552254639 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552255190 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2552255512 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552255606 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy, Nemaline myopathy |
| RS2552255626 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy |
| RS2552256135 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552256160 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552256226 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552256921 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2552256930 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552256960 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257043 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552257490 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552257498 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257504 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552257509 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257778 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257802 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257811 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257814 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552257876 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy, Nemaline myopathy |
| RS2552258074 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2552258164 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258179 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258214 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258220 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258223 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2552258227 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258231 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258233 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258291 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258297 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258304 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258309 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258479 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552258664 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2552258916 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, BRCA1-related cancer predisposition |
| RS2552258927 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258947 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258949 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258957 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2552258964 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |