| RS387906343 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906344 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906345 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906346 |
ADAMTS13
|
Health Risk |
Pathogenic |
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS387906347 |
GNE
|
Health Risk |
Conflicting classifications of pathogenicity |
GNE myopathy, Sialuria |
| RS387906349 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS387906350 |
BCL10
|
Health Risk |
Pathogenic |
Mucosa-associated lymphoma, Mesothelioma |
| RS387906351 |
BCL10
|
Health Risk |
Pathogenic |
T-cell acute lymphoblastic leukemia, Carcinoma of colon |
| RS387906352 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS387906353 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS387906354 |
ABCB11
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS387906355 |
AGPAT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS387906358 |
SDHD
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome |
| RS387906359 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906360 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS387906361 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS387906362 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906363 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS387906364 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS387906365 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS387906366 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906367 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906369 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS387906370 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906371 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906373 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS387906375 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS387906376 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906377 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906378 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS387906379 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS387906380 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS387906381 |
ATP8B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS387906382 |
HR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypotrichosis 4, Hypotrichosis 4 |
| RS387906383 |
COX10
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS387906384 |
NEUROD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 6, NEUROD1-related disorder |
| RS387906385 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Bietti crystalline corneoretinal dystrophy |
| RS387906387 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, early-onset severe |
| RS387906388 |
ABCA4
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 3, Cone-rod dystrophy 3 |
| RS387906389 |
ACVR1B
|
Health Risk |
Pathogenic |
Carcinoma of pancreas, Carcinoma of pancreas |
| RS387906391 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS387906392 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS387906393 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS387906394 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS387906395 |
ABCC2
|
Health Risk |
Pathogenic |
Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS387906396 |
ABCC2
|
Health Risk |
Pathogenic |
Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS387906397 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS387906399 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS387906401 |
PDE6C
|
Health Risk |
Pathogenic |
Achromatopsia 5, Achromatopsia 5 |
| RS387906402 |
SCNN1B
|
Health Risk |
Pathogenic |
Liddle syndrome 1, Pseudohypoaldosteronism |
| RS387906403 |
SLC16A1
|
Health Risk |
Pathogenic |
Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism |
| RS387906404 |
NKX2-1
|
Health Risk |
Pathogenic |
Benign hereditary chorea, Benign hereditary chorea |
| RS387906405 |
DLX3
|
Health Risk |
Pathogenic |
Tricho-dento-osseous syndrome, DLX3-related disorder |
| RS387906406 |
DLX3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Tricho-dento-osseous syndrome |
| RS387906407 |
ABCC8
|
Health Risk |
Pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS387906408 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS387906409 |
ACADSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase |
| RS387906410 |
CDKN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Melanoma, cutaneous malignant |
| RS387906411 |
ITGB2
|
Health Risk |
Pathogenic |
Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1 |
| RS387906412 |
ABCA1
|
Health Risk |
Pathogenic |
Hypoalphalipoproteinemia, primary |
| RS387906413 |
ABCA1
|
Health Risk |
Pathogenic |
Tangier disease, Tangier disease |
| RS387906414 |
ABCA1
|
Health Risk |
Pathogenic |
Tangier disease, Tangier disease |
| RS387906415 |
ABCA1
|
Health Risk |
Pathogenic |
Hypoalphalipoproteinemia, primary |
| RS387906416 |
LBR
|
Health Risk |
Pathogenic |
Greenberg dysplasia, Pelger-Huët anomaly |
| RS387906417 |
MXI1
|
Health Risk |
Pathogenic |
Prostate cancer, Prostate cancer |
| RS387906419 |
MT-TS1
|
Health Risk |
Likely pathogenic |
Exercise intolerance, muscle pain |
| RS387906420 |
MT-TF
|
Health Risk |
Likely pathogenic |
Epilepsy, mitochondrial |
| RS387906421 |
MT-TE
|
Health Risk |
Likely pathogenic |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease |
| RS387906422 |
MT-ATP6;MT-ATP8
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, infantile hypertrophic |
| RS387906423 |
MT-ATP6
|
Health Risk |
Likely pathogenic |
NARP syndrome, Mitochondrial disease |
| RS387906427 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS387906428 |
HPRT1
|
Health Risk |
Pathogenic; other |
Lesch-Nyhan syndrome, HPRT EVANSVILLE |
| RS387906430 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906431 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906432 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906433 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906434 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906435 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906436 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906437 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906438 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906439 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906440 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906441 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906442 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906443 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906444 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906445 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906446 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906447 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906448 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906449 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906450 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS387906451 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906452 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Thrombophilia |
| RS387906453 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906454 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906455 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906456 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS387906457 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |