| RS1555409132 |
TPM1
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555409659 |
TPM1
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1555409827 |
GPR68
|
Health Risk |
Pathogenic |
Amelogenesis imperfecta, hypomaturation type |
| RS1555409836 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS1555409850 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
— |
| RS1555410010 |
DYNC1H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555410129 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
— |
| RS1555410433 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy 3 |
| RS1555410747 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type 1 |
| RS1555410768 |
CHST14
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS1555410784 |
CHST14
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS1555410785 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type 1 |
| RS1555410941 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability |
| RS1555411143 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
— |
| RS1555411216 |
PCCA
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555411305 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS1555411378 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS1555411394 |
DYNC1H1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 13 |
| RS1555411399 |
DYNC1H1
|
Health Risk |
Pathogenic |
— |
| RS1555411400 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
| RS1555411404 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555411458 |
MYO1E
|
Health Risk |
Likely pathogenic |
— |
| RS1555412069 |
SMAD3
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555412070 |
SMAD3
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555412140 |
SMAD3
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555412242 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases |
| RS1555412294 |
SMAD3
|
Health Risk |
Pathogenic |
— |
| RS1555412542 |
CLPX
|
Health Risk |
Likely pathogenic |
Protoporphyria, erythropoietic |
| RS1555412629 |
SMAD3
|
Health Risk |
Likely pathogenic |
— |
| RS1555412690 |
PACS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 1 |
| RS1555412737 |
DYNC1H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS1555412971 |
TCF12
|
Health Risk |
Pathogenic |
TCF12-related craniosynostosis, Autism spectrum disorder |
| RS1555412976 |
PACS2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555413299 |
CCDC88C
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555413562 |
SMAD3
|
Health Risk |
Pathogenic |
— |
| RS1555413579 |
SMAD3
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555413614 |
DNAAF4
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1555413988 |
SMAD3
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555413991 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS1555414236 |
SMAD3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555414495 |
SMAD3
|
Health Risk |
Likely pathogenic |
— |
| RS1555414503 |
SMAD3
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS1555414654 |
CDAN1
|
Health Risk |
Likely pathogenic |
— |
| RS1555414714 |
DUOXA2
|
Health Risk |
Pathogenic |
— |
| RS1555415049 |
DUOXA2
|
Health Risk |
Pathogenic |
Thyroglobulin synthesis defect, Thyroglobulin synthesis defect |
| RS1555415658 |
HERC2
|
Health Risk |
Pathogenic |
Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS1555417104 |
EIF2AK4
|
Health Risk |
Likely pathogenic |
— |
| RS1555417257 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555417271 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555417272 |
HERC1
|
Health Risk |
Likely pathogenic |
— |
| RS1555417321 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555418016 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555418292 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555418352 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555418380 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555418701 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555418784 |
TRPM1
|
Health Risk |
Likely pathogenic |
Congenital stationary night blindness, Congenital stationary night blindness |
| RS1555418785 |
ACTC1
|
Health Risk |
Likely pathogenic |
— |
| RS1555418793 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1R, ACTC1-related disorder |
| RS1555418825 |
CEP152
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 9, primary |
| RS1555418921 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1R, Atrial septal defect 5 |
| RS1555418976 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555418998 |
MEIS2
|
Health Risk |
Pathogenic |
— |
| RS1555419696 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419704 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419710 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555419724 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419741 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS1555419742 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419748 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419779 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Bloom syndrome |
| RS1555419806 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419829 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419862 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419873 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419889 |
BLM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS1555419902 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419961 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555419980 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555420075 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420083 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420142 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555420302 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420462 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555420468 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420475 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420507 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555420508 |
CAPN3
|
Health Risk |
Likely pathogenic |
Absent Achilles reflex, Myopathy |
| RS1555420602 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555420634 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy |
| RS1555420639 |
CAPN3
|
Health Risk |
Pathogenic |
— |
| RS1555420642 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1555420647 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420652 |
CAPN3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420765 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy |
| RS1555420768 |
CAPN3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1555420842 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1555420844 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555420871 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1555420891 |
KNL1
|
Health Risk |
Likely pathogenic |
Microcephaly 4, primary |