| RS2546979428 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546979517 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546979559 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2546979575 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546979794 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546979841 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546980011 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546980129 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546980231 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2546980396 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546980419 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546980566 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2546980618 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546980685 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546982337 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546982546 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546982589 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546982776 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546983059 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546983170 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546983240 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546983271 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546984307 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546985015 |
CEP63
|
Health Risk |
Pathogenic |
— |
| RS2546986671 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546986699 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546986769 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546986797 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546986817 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546986965 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546987189 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546987256 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546987307 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546987392 |
ATM
|
Health Risk |
Likely pathogenic |
— |
| RS2546987430 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546987787 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2546987919 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546987920 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546988009 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546988048 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546988131 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546988165 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546988228 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546988316 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546988372 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546988377 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546988381 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546988548 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546988568 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546988633 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2546988696 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546989855 |
TBX20
|
Health Risk |
Likely pathogenic |
— |
| RS2546993178 |
TBX20
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546993203 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546994664 |
TBX20
|
Health Risk |
Likely pathogenic |
Atrial septal defect 4, Atrial septal defect 4 |
| RS2546994710 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546994724 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546995478 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546995623 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546995755 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546995793 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546996345 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546996367 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546996400 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546996503 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546996539 |
TBX20
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546997268 |
TBX20
|
Health Risk |
Pathogenic |
— |
| RS2546997545 |
TBX20
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546997554 |
TBX20
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2546999694 |
DNAH5
|
Health Risk |
Pathogenic |
DNAH5-related disorder, DNAH5-related disorder |
| RS2546999923 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547004416 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547005024 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547005376 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547005490 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547005499 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547005564 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547006381 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2547006471 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2547014293 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547015012 |
CEP63
|
Health Risk |
Pathogenic |
— |
| RS2547025082 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547025965 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547025987 |
RYR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2547026213 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547026860 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547027019 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547027075 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547027158 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2547028485 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547029192 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer |
| RS2547029575 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547029909 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547030082 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547030155 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547030225 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547030385 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547030766 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547030805 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547030807 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Gastric cancer |