| RS2546561012 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546561065 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546561323 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546561572 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546561591 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546561685 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546564147 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546564231 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546564284 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546564339 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS2546568726 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546568932 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546569318 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546573344 |
SMG8
|
Health Risk |
Pathogenic |
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2546573732 |
SMG8
|
Health Risk |
Pathogenic |
— |
| RS2546574489 |
SMG8
|
Health Risk |
Pathogenic |
Alzahrani-Kuwahara syndrome, Alzahrani-Kuwahara syndrome |
| RS2546575150 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546575680 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546575717 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2546575776 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2546579425 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset |
| RS2546579674 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2546579814 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546579917 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2546595132 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2546603981 |
VPS50
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with microcephaly, seizures |
| RS2546606310 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2546606426 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546606567 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2546606668 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546607933 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546607967 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546608007 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546608024 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546608447 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546611390 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546611536 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2546611663 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546611714 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546611820 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546614807 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546614878 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546614911 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546615030 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546618242 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546618925 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546618928 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546619470 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2546630731 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546631182 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546631246 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546634298 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546634485 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2546634638 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546634674 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2546638824 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia |
| RS2546639442 |
CRPPA
|
Health Risk |
Likely pathogenic |
— |
| RS2546640421 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546640593 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546640737 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546640992 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2546641227 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546643711 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2546644050 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset |
| RS2546644089 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2546644221 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546646309 |
LRBA
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546646656 |
LARGE1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6 |
| RS2546646853 |
LARGE1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6 |
| RS2546647342 |
LARGE1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6 |
| RS2546647964 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546647978 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546648432 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546648576 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546651447 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS2546652810 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2546652931 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2546653051 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset |
| RS2546656292 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2546656413 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546656471 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546656503 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546656558 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546656655 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546656725 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546658739 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546658786 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546659032 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546659372 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS2546659949 |
CPLANE1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2546662562 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546662839 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546663053 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546663270 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2546663331 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546674702 |
DYSF
|
Health Risk |
Likely pathogenic |
— |
| RS2546678617 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546678822 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546679327 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546679549 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |