| RS2546930869 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546931152 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546931180 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546931272 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546931381 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546931504 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546931758 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546931786 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2546931906 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546932012 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2546932342 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546932467 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546932598 |
ATM
|
Health Risk |
Pathogenic |
— |
| RS2546941907 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546942074 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546942102 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546942179 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546942537 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2546942670 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546943894 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2546944054 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2546944337 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546944408 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2546946932 |
AP4M1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546948756 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2546950411 |
AP4M1
|
Health Risk |
Pathogenic |
— |
| RS2546953947 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546954179 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546954223 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546954781 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546954923 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546955003 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546955037 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546955438 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546956864 |
AP4M1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546956921 |
CBLB
|
Health Risk |
Pathogenic |
Autoimmune disease, multisystem |
| RS2546958566 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2546958669 |
AP4M1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546959015 |
RYR2
|
Health Risk |
Likely pathogenic |
— |
| RS2546959354 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2546959528 |
RYR2
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2546963463 |
AP4M1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546963629 |
AP4M1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS2546963840 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546964090 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546964809 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546964838 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546965266 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965500 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965552 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546965651 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965715 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965753 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965822 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2546965841 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546965929 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2546971435 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2546972568 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546972613 |
ATM
|
Health Risk |
Pathogenic |
— |
| RS2546972682 |
MEF2C
|
Health Risk |
Likely pathogenic |
— |
| RS2546972933 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546973020 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546973082 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546973147 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546973195 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546973414 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546973486 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546973567 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546973597 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546973745 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546973895 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2546973912 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2546973955 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546973961 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546974004 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS2546974086 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546974087 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546974113 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2546974166 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546974224 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546974330 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2546974410 |
ATM
|
Health Risk |
Likely pathogenic |
Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS2546975516 |
MEF2C
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2546978367 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546978412 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546978418 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546978451 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546978701 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546978839 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546978922 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546978980 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546979048 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546979062 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2546979154 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546979181 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546979203 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2546979242 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546979308 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546979395 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2546979403 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |