| RS121918421 |
GYS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918422 |
GYS2
|
Health Risk |
Likely pathogenic |
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918423 |
GYS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918424 |
GYS2
|
Health Risk |
Pathogenic |
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918426 |
CSF3R
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary neutrophilia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS121918440 |
ABCB4
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial intrahepatic cholestasis type 3, Cholestasis |
| RS121918442 |
ABCB4
|
Health Risk |
Conflicting classifications of pathogenicity |
Low phospholipid associated cholelithiasis, Low phospholipid associated cholelithiasis |
| RS121918443 |
ABCB4
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS1219184437 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephronophthisis, Meckel-Gruber syndrome |
| RS121918444 |
ITGB3
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia |
| RS121918445 |
ITGB3
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia, Glanzmann thrombasthenia 2 |
| RS121918446 |
ITGB3
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia |
| RS121918449 |
ITGB3
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia |
| RS121918450 |
ITGB3
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia, Platelet-type bleeding disorder 16 |
| RS121918451 |
ITGB3
|
Health Risk |
Pathogenic |
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia |
| RS121918452 |
ITGB3
|
Health Risk |
Likely pathogenic |
Glanzmann thrombasthenia 2, Glanzmann thrombasthenia |
| RS121918453 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918454 |
PTPN11
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome 1, Noonan syndrome |
| RS121918455 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918456 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome with multiple lentigines, RASopathy |
| RS121918457 |
PTPN11
|
Health Risk |
Pathogenic |
RASopathy, LEOPARD syndrome 1 |
| RS121918458 |
PTPN11
|
Health Risk |
Pathogenic |
Noonan syndrome 1, Noonan syndrome |
| RS121918459 |
PTPN11
|
Health Risk |
Pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918460 |
PTPN11
|
Health Risk |
Likely pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918461 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918462 |
PTPN11
|
Health Risk |
Pathogenic |
Noonan syndrome 1, RASopathy |
| RS121918463 |
PTPN11
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome 1, Noonan syndrome |
| RS121918464 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile myelomonocytic leukemia, RASopathy |
| RS121918465 |
PTPN11
|
Health Risk |
Pathogenic |
Juvenile myelomonocytic leukemia, RASopathy |
| RS121918466 |
PTPN11
|
Health Risk |
Pathogenic |
Noonan syndrome 1, Noonan syndrome |
| RS121918468 |
PTPN11
|
Health Risk |
Pathogenic |
Noonan syndrome with multiple lentigines, LEOPARD syndrome 1 |
| RS121918469 |
PTPN11
|
Health Risk |
Pathogenic |
RASopathy, LEOPARD syndrome 1 |
| RS121918470 |
PTPN11
|
Health Risk |
Conflicting classifications of pathogenicity |
LEOPARD syndrome 1, RASopathy |
| RS121918472 |
PROS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Protein S Heerlen, Thrombophilia due to protein S deficiency |
| RS121918473 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS121918474 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS121918475 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS121918476 |
PROS1
|
Health Risk |
Pathogenic |
Thrombophilia due to protein S deficiency, autosomal recessive |
| RS121918477 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Thrombophilia due to thrombin defect |
| RS121918478 |
F2
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918479 |
F2
|
Health Risk |
Likely pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918480 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918481 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918482 |
F2
|
Health Risk |
Pathogenic |
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II, DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II |
| RS121918483 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918484 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918485 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918486 |
F2
|
Health Risk |
Pathogenic |
Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918487 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, Pfeiffer syndrome |
| RS121918488 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
| RS121918489 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918490 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918491 |
FGFR2
|
Health Risk |
Pathogenic |
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY, Crouzon syndrome |
| RS121918492 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, Jackson-Weiss syndrome |
| RS121918493 |
FGFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918494 |
FGFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918495 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome, FGFR2-related craniosynostosis |
| RS121918496 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918497 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, Jackson-Weiss syndrome |
| RS121918498 |
FGFR2
|
Health Risk |
Likely pathogenic |
Acrocephalosyndactyly type I, Acrocephalosyndactyly type I |
| RS121918499 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome, Aural atresia |
| RS121918500 |
FGFR2
|
Health Risk |
Likely pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918501 |
FGFR2
|
Health Risk |
Pathogenic |
Crouzon syndrome, FGFR2-related craniosynostosis |
| RS121918502 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome type 3, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis |
| RS121918503 |
FGFR2
|
Health Risk |
Likely pathogenic |
Pfeiffer syndrome, Pfeiffer syndrome |
| RS121918504 |
FGFR2
|
Health Risk |
Conflicting classifications of pathogenicity |
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL |
| RS121918505 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome, Crouzon syndrome |
| RS121918506 |
FGFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Pfeiffer syndrome, FGFR2-related craniosynostosis |
| RS121918507 |
FGFR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Crouzon syndrome, Familial scaphocephaly syndrome |
| RS121918508 |
FGFR2
|
Health Risk |
Pathogenic |
Levy-Hollister syndrome, FGFR2-related craniosynostosis |
| RS121918509 |
FGFR2
|
Health Risk |
Pathogenic |
LADD syndrome 1, LADD syndrome 1 |
| RS121918510 |
FGFR2
|
Health Risk |
Pathogenic |
Pfeiffer syndrome, FGFR2-related craniosynostosis |
| RS121918511 |
PRKCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918512 |
PRKCG
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918513 |
PRKCG
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918514 |
PRKCG
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918515 |
PRKCG
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918516 |
PRKCG
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918517 |
PRKCG
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918518 |
PRKCG
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14 |
| RS121918519 |
PRKCSH
|
Health Risk |
Pathogenic |
Polycystic liver disease 1, Polycystic liver disease 1 |
| RS121918520 |
PRKCSH
|
Health Risk |
Pathogenic |
Polycystic liver disease 1, Autosomal dominant polycystic liver disease |
| RS121918521 |
ATP6AP2
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS121918522 |
PHF8
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918523 |
PHF8
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918524 |
PHF8
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type |
| RS121918525 |
HUWE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, X-linked syndromic |
| RS121918526 |
HUWE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, X-linked syndromic |
| RS121918527 |
HUWE1
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked syndromic |
| RS121918528 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS121918529 |
MEF2A
|
Health Risk |
Pathogenic |
Coronary artery disease/myocardial infarction, Coronary artery disease |
| RS121918531 |
MEF2A
|
Health Risk |
Pathogenic |
Coronary artery disease/myocardial infarction, Coronary artery disease/myocardial infarction |
| RS121918532 |
CNGB1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 45, Retinitis pigmentosa 45 |
| RS121918537 |
PDE6C
|
Health Risk |
Pathogenic/Likely pathogenic |
Cone dystrophy 4, Achromatopsia 5 |
| RS121918538 |
PDE6C
|
Health Risk |
Pathogenic |
Achromatopsia 5, Achromatopsia 5 |
| RS121918539 |
PDE6C
|
Health Risk |
Pathogenic |
Achromatopsia 5, Achromatopsia 5 |
| RS121918540 |
STXBP2
|
Health Risk |
Pathogenic |
Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder |
| RS121918542 |
KCNJ13
|
Health Risk |
Pathogenic/Likely pathogenic |
Snowflake vitreoretinal degeneration, Snowflake vitreoretinal degeneration |
| RS121918543 |
TINF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal dominant 3 |
| RS121918544 |
TINF2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal dominant 3 |