| RS2128918440 |
THAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918456 |
THAP1
|
Health Risk |
Pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918637 |
THAP1
|
Health Risk |
Pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918641 |
THAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS2128919290 |
THAP1
|
Health Risk |
Pathogenic |
Torsion dystonia 6, Torsion dystonia 6 |
| RS2128922898 |
RNF170
|
Health Risk |
Pathogenic |
Spastic paraplegia 85, autosomal recessive |
| RS2128926159 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128926255 |
EGFR
|
Health Risk |
Conflicting classifications of pathogenicity |
EGFR-related lung cancer, Hereditary cancer-predisposing syndrome |
| RS2128926460 |
EGFR
|
Health Risk |
Likely pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128929475 |
EGFR
|
Health Risk |
Conflicting classifications of pathogenicity |
EGFR-related lung cancer, Hereditary cancer-predisposing syndrome |
| RS2128929494 |
EGFR
|
Health Risk |
Conflicting classifications of pathogenicity |
EGFR-related lung cancer, EGFR-related disorder |
| RS2128929811 |
RNF170
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2128932114 |
FLNC
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26 |
| RS2128932126 |
FLNC
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement |
| RS2128932142 |
FLNC
|
Health Risk |
Pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy |
| RS2128932148 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128932161 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128932217 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128933635 |
EGFR
|
Health Risk |
Likely pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128933653 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128933676 |
FLNC
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement |
| RS2128933685 |
FLNC
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Myofibrillar myopathy 5 |
| RS2128933688 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128933700 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934056 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128934060 |
FLNC
|
Health Risk |
Likely pathogenic |
Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS2128934070 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934074 |
FLNC
|
Health Risk |
Pathogenic/Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS2128934076 |
FLNC
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement |
| RS2128934191 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934193 |
FLNC
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5 |
| RS2128934252 |
RNF170
|
Health Risk |
Likely pathogenic |
Spastic paraplegia 85, autosomal recessive |
| RS2128934390 |
FLNC
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Myofibrillar myopathy 5 |
| RS2128934407 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934432 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934500 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934545 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS2128934867 |
FLNC
|
Health Risk |
Pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128934883 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128934926 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128935054 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935124 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935161 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128935185 |
EGFR
|
Health Risk |
Pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128935198 |
EGFR
|
Health Risk |
Conflicting classifications of pathogenicity |
EGFR-related lung cancer, Hereditary cancer-predisposing syndrome |
| RS2128935258 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935287 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935347 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935670 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128935921 |
FLNC
|
Health Risk |
Pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy |
| RS2128936006 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936013 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936028 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS2128936072 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936089 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936107 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936119 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy |
| RS2128936173 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936189 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936346 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936369 |
FLNC
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2128936386 |
FLNC
|
Health Risk |
Pathogenic |
Cardiomyopathy, Cardiovascular phenotype |
| RS2128936511 |
FLNC
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Myofibrillar myopathy 5 |
| RS2128936516 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936518 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128936867 |
FLNC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26 |
| RS2128937065 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128937285 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128937364 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128937368 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128937556 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128937575 |
FLNC
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Myofibrillar myopathy 5 |
| RS2128937622 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128937680 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128938102 |
FLNC
|
Health Risk |
Pathogenic |
Spastic ataxia, Cerebellar ataxia |
| RS2128938104 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938137 |
EGFR
|
Health Risk |
Likely pathogenic |
EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128938204 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |
| RS2128938355 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938360 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938382 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938391 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938435 |
FLNC
|
Health Risk |
Likely pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128938455 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938466 |
EGFR
|
Health Risk |
Conflicting classifications of pathogenicity |
EGFR-related lung cancer, Hereditary cancer-predisposing syndrome |
| RS2128938502 |
FLNC
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement |
| RS2128938503 |
FLNC
|
Health Risk |
Likely pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938768 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128938886 |
FLNC
|
Health Risk |
Pathogenic |
— |
| RS2128938894 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939085 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939113 |
FLNC
|
Health Risk |
Likely pathogenic |
— |
| RS2128939246 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939316 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939337 |
FLNC
|
Health Risk |
Pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26 |
| RS2128939369 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939496 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939508 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939548 |
FLNC
|
Health Risk |
Pathogenic |
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26 |
| RS2128939561 |
FLNC
|
Health Risk |
Pathogenic |
Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5 |