| RS886038972 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038975 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038976 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886038978 |
ACTA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Aortic aneurysm, familial thoracic 6 |
| RS886038979 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038983 |
COL3A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS886038984 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886038987 |
FLNA
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038990 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038992 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038996 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039004 |
TGFBR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039009 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039018 |
SCN5A
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Brugada syndrome 1 |
| RS886039027 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039028 |
MYBPC3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039030 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS886039034 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039035 |
FBN1
|
Health Risk |
Pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039036 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039038 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039042 |
PRKG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 8 |
| RS886039043 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome 2 |
| RS886039044 |
BAG3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039045 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome 2 |
| RS886039047 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, FBN1-related disorder |
| RS886039050 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039054 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039063 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039064 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039066 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039072 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Brugada syndrome 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039082 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039083 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, 6 conditions |
| RS886039084 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039089 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039090 |
MYH7
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS886039092 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039104 |
FLNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Heterotopia |
| RS886039106 |
TGFBR2
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039117 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039120 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039125 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039127 |
ACTN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1AA |
| RS886039128 |
DSC2
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039132 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039136 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Fabry disease |
| RS886039137 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome |
| RS886039139 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome |
| RS886039145 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, TTN-related disorder |
| RS886039153 |
PRKG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 8 |
| RS886039154 |
FBN1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039158 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039162 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, MYH7-related skeletal myopathy |
| RS886039167 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039175 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS886039176 |
TGFBR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039177 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039178 |
DSP
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS886039182 |
BAG3
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1HH |
| RS886039183 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS886039185 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS886039196 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886039197 |
COL5A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS886039200 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly |
| RS886039204 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS886039208 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS886039211 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886039216 |
PIGN
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS886039217 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS886039218 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS886039219 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS886039220 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS886039221 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS886039222 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS886039223 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS886039227 |
DCTN1
|
Health Risk |
Likely pathogenic |
Perry syndrome, Perry syndrome |
| RS886039228 |
DCTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Perry syndrome, Amyotrophic lateral sclerosis type 1 |
| RS886039230 |
MAP3K7
|
Health Risk |
Pathogenic |
Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039231 |
MAP3K7
|
Health Risk |
Pathogenic |
Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039232 |
MAP3K7
|
Health Risk |
Pathogenic |
Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039233 |
MAP3K7
|
Health Risk |
Pathogenic |
Frontometaphyseal dysplasia 2, Frontometaphyseal dysplasia 2 |
| RS886039234 |
MAP3K7
|
Health Risk |
Pathogenic |
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039235 |
MAP3K7
|
Health Risk |
Pathogenic |
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039236 |
MAP3K7
|
Health Risk |
Pathogenic |
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039237 |
MAP3K7
|
Health Risk |
Pathogenic |
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS886039243 |
DEPDC5
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS886039245 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039246 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039247 |
DEPDC5
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS886039249 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039251 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039252 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039253 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039255 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Epilepsy |
| RS886039256 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039261 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039263 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039266 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |
| RS886039268 |
DEPDC5
|
Health Risk |
Pathogenic |
Epilepsy, familial focal |