| RS869025302 |
IDS
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025303 |
IDS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025304 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025305 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025306 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025307 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025308 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS869025309 |
PUS1
|
Health Risk |
Likely pathogenic |
Myopathy, lactic acidosis |
| RS869025310 |
REST
|
Health Risk |
Pathogenic |
Wilms tumor 6, Wilms tumor 6 |
| RS869025311 |
REST
|
Health Risk |
risk factor |
Wilms tumor 6, Wilms tumor 6 |
| RS869025312 |
REST
|
Health Risk |
risk factor |
Wilms tumor 6, Wilms tumor 6 |
| RS869025313 |
SLC25A26
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS869025314 |
SLC25A26
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS869025315 |
SLC25A26
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 28, Combined oxidative phosphorylation deficiency 28 |
| RS869025316 |
UNC80
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypotonia, infantile |
| RS869025317 |
UNC80
|
Health Risk |
Likely pathogenic |
Hypotonia, infantile |
| RS869025318 |
UNC80
|
Health Risk |
Likely pathogenic |
Hypotonia, infantile |
| RS869025319 |
UNC80
|
Health Risk |
Likely pathogenic |
Hypotonia, infantile |
| RS869025320 |
UNC80
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS869025321 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS869025322 |
PIGY
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6 |
| RS869025323 |
PIGY
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 6, Hyperphosphatasia with intellectual disability syndrome 6 |
| RS869025325 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome 3b, autosomal recessive |
| RS869025326 |
COL4A3
|
Health Risk |
Pathogenic |
Benign familial hematuria, Benign familial hematuria |
| RS869025327 |
COL4A3
|
Health Risk |
Pathogenic |
Benign familial hematuria, Benign familial hematuria |
| RS869025328 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Benign familial hematuria, Autosomal dominant Alport syndrome |
| RS869025329 |
COL4A4
|
Health Risk |
Pathogenic |
Benign familial hematuria, Benign familial hematuria |
| RS869025330 |
COL4A5
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS869025331 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS869025332 |
COL4A5
|
Health Risk |
Likely pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS869025333 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS869025334 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS869025335 |
PPP1R15B
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, short stature |
| RS869025336 |
SPRY2
|
Health Risk |
risk factor |
IgA nephropathy, susceptibility to |
| RS869025337 |
BVES
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X |
| RS869025338 |
FRMD4A
|
Health Risk |
Pathogenic |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
| RS869025339 |
MAP2K1
|
Health Risk |
Likely pathogenic |
Cardiofaciocutaneous syndrome 3, RASopathy |
| RS869025340 |
BRAF
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome 7, Melanoma |
| RS869025341 |
ATP1A2
|
Health Risk |
Pathogenic |
Migraine, familial hemiplegic |
| RS869025342 |
CCDC174
|
Health Risk |
Pathogenic |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome, Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
| RS869025343 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Inborn genetic diseases |
| RS869025344 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS869025345 |
NONO
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34 |
| RS869025349 |
ABCC9
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1O |
| RS869025350 |
ABCG5
|
Health Risk |
Pathogenic/Likely pathogenic |
Sitosterolemia, Sitosterolemia |
| RS869025352 |
ACTA2
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm |
| RS869025360 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 2, Long QT syndrome |
| RS869025365 |
BAG3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025366 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS869025367 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, primary |
| RS869025374 |
COL5A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Ehlers-Danlos syndrome |
| RS869025378 |
CSRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 12 |
| RS869025386 |
DSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS869025388 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 |
| RS869025392 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS869025393 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8 |
| RS869025394 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8 |
| RS869025395 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS869025397 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8 |
| RS869025398 |
DSP
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025399 |
DSP
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869025403 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025404 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025405 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025406 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025407 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS869025408 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025411 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025412 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025413 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025414 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025415 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025416 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025417 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025418 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025419 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025420 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025421 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025422 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025423 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025424 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025425 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS869025426 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869025428 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS869025431 |
FHL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, X-linked myopathy with postural muscle atrophy |
| RS869025435 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Fabry disease |
| RS869025443 |
JUP
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12 |
| RS869025447 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS869025448 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS869025449 |
LAMA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1JJ |
| RS869025453 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS869025454 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS869025458 |
LMNA
|
Health Risk |
Likely pathogenic |
Conduction system disorder, Conduction system disorder |
| RS869025459 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS869025460 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025461 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025462 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025463 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS869025464 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS869025465 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |