| RS72629781 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72629782 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72629783 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72629785 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Dilated cardiomyopathy 1G |
| RS72629786 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS72629788 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G |
| RS72629789 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72629793 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS72629795 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy |
| RS72629798 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Myopathy |
| RS72632860 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72638959 |
ANK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS72645315 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645317 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72645318 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645319 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72645320 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS72645321 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645323 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72645324 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645328 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72645329 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645331 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Infantile cortical hyperostosis |
| RS72645332 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645333 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72645334 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645337 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645338 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645339 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645340 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645341 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645344 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645345 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645347 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72645350 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72645352 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645353 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645355 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645356 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645357 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta |
| RS72645358 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72645361 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645362 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile cortical hyperostosis, Ehlers-Danlos syndrome |
| RS72645364 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Uterine corpus endometrial carcinoma |
| RS72645365 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645366 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72645367 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72645368 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645369 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72645370 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type III |
| RS72646291 |
CYP4V2
|
Health Risk |
Conflicting classifications of pathogenicity |
Corneal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS72646292 |
CYP4V2
|
Health Risk |
Conflicting classifications of pathogenicity |
Corneal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS72646501 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism, type IB1 |
| RS72646509 |
PCSK9
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72646510 |
PCSK9
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypercholesterolemia, Hypercholesterolemia |
| RS72646513 |
PCSK9
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypercholesterolemia, Hypercholesterolemia |
| RS72646515 |
PCSK9
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72646516 |
PCSK9
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72646808 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS72646813 |
TTN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646819 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646822 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646823 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646828 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646831 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS72646837 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646839 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646842 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy |
| RS72646846 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646848 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS72646849 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646852 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72646853 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS72646855 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Myopathy |
| RS72646859 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646864 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646866 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 9, Cardiovascular phenotype |
| RS72646867 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646868 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS72646870 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646873 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Tibial muscular dystrophy |
| RS72646877 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646880 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS72646882 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646886 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72646887 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646889 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72646890 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72646891 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Tibial muscular dystrophy |
| RS72646892 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 9 |
| RS72646895 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72646898 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646899 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72646973 |
TBX1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS72647372 |
WNK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2C, Neuropathy |
| RS72647517 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Liddle syndrome 2, Liddle syndrome 2 |
| RS72647527 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Liddle syndrome 2, Pseudohypoaldosteronism |
| RS72647541 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism, type IB1 |
| RS72647543 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Liddle syndrome 2, Liddle syndrome 2 |
| RS72647546 |
SCNN1G
|
Health Risk |
Conflicting classifications of pathogenicity |
Liddle syndrome 2, Pseudohypoaldosteronism |