| RS2469511563 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469511668 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469511702 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2469511724 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469511875 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469512011 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469512063 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469512079 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469512226 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469512652 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469512685 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2469513098 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469513309 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469513513 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469513544 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469513563 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469513625 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469513640 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469513748 |
BARD1
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2469514103 |
IHH
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2469514179 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469514208 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469514264 |
IHH
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2469514328 |
IHH
|
Health Risk |
Pathogenic |
— |
| RS2469514359 |
IHH
|
Health Risk |
Pathogenic |
Brachydactyly type A1A, Brachydactyly type A1A |
| RS2469514390 |
IHH
|
Health Risk |
Pathogenic |
— |
| RS2469514725 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469514913 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469515615 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469517638 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469517772 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469520105 |
IHH
|
Health Risk |
Likely pathogenic |
Brachydactyly type A1A, Acrocapitofemoral dysplasia |
| RS2469521534 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469522363 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469523623 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469524371 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469527431 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469527656 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469528595 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469530688 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469530748 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469535808 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469536270 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469536890 |
TTN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469538826 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469538973 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469539180 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS2469543375 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469543418 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469544002 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469544518 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469545357 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469545432 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469545819 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469547329 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469547573 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469550341 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469551141 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469552559 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469553543 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469554208 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469555232 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469555432 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469555480 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469555855 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS2469556380 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469556401 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469559691 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469560027 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469560081 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469560396 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469560852 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2469560933 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469560940 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2469561106 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469561153 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469561494 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469561564 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469562035 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469563027 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Alport syndrome 3b |
| RS2469563154 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469563364 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Alport syndrome 3b, autosomal recessive |
| RS2469563696 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469567880 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469568618 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469568674 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469568933 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469569400 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2469569614 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469571777 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469572128 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469572245 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469572914 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469575234 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469576978 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2469577137 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469577182 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469577439 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS2469578075 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2469581775 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |