| RS137852412 |
F8
|
Health Risk |
Likely pathogenic |
— |
| RS137852413 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852414 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852415 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852416 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852417 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Mild hemophilia A |
| RS137852418 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Thrombophilia |
| RS137852419 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, F8-related disorder |
| RS137852420 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852421 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852422 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852424 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852425 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852426 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852427 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852428 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852429 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852430 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852431 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852432 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852433 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852434 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852435 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852436 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852437 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852438 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852439 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852440 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852441 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852442 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, F8-related disorder |
| RS137852443 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852444 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852445 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852446 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852448 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852449 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852451 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852452 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852453 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Thyroid cancer |
| RS137852454 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852455 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852456 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852457 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852458 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852459 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852460 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852461 |
F8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852462 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852463 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852464 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852465 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852466 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852467 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Thrombophilia |
| RS137852468 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852469 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852470 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852471 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852472 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease |
| RS137852473 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852474 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852475 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852476 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS137852477 |
HPRT1
|
Health Risk |
Pathogenic; other |
HPRT ANN ARBOR, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852478 |
HPRT1
|
Health Risk |
Likely pathogenic |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ARLINGTON |
| RS137852479 |
HPRT1
|
Health Risk |
Pathogenic; other |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT ASHVILLE |
| RS137852480 |
HPRT1
|
Health Risk |
Pathogenic; other |
Lesch-Nyhan syndrome, HPRT DETROIT |
| RS137852481 |
HPRT1
|
Health Risk |
Pathogenic; other |
HPRT FLINT, Lesch-Nyhan syndrome |
| RS137852482 |
HPRT1
|
Health Risk |
Likely pathogenic |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT LONDON |
| RS137852483 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, HPRT MIDLAND |
| RS137852484 |
HPRT1
|
Health Risk |
Likely pathogenic |
HPRT MILWAUKEE, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852485 |
HPRT1
|
Health Risk |
Pathogenic; other |
HPRT MUNICH, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852486 |
HPRT1
|
Health Risk |
Pathogenic; other |
Lesch-Nyhan syndrome, HPRT NEW BRITON |
| RS137852487 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, HPRT NEW HAVEN |
| RS137852488 |
HPRT1
|
Health Risk |
Likely pathogenic |
HPRT YALE, Lesch-Nyhan syndrome |
| RS137852489 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852490 |
HPRT1
|
Health Risk |
Likely pathogenic |
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852491 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852492 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852493 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852494 |
HPRT1
|
Health Risk |
Pathogenic |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TORONTO |
| RS137852495 |
HPRT1
|
Health Risk |
Pathogenic; other |
HPRT MONTREAL, Lesch-nyhan syndrome |
| RS137852496 |
HPRT1
|
Health Risk |
Pathogenic |
Lesch-Nyhan syndrome, Lesch-Nyhan syndrome |
| RS137852497 |
HPRT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852498 |
HPRT1
|
Health Risk |
Pathogenic |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852499 |
HPRT1
|
Health Risk |
Pathogenic; other |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT URANGAN |
| RS137852500 |
HPRT1
|
Health Risk |
Pathogenic; other |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT TOOWONG |
| RS137852501 |
HPRT1
|
Health Risk |
Pathogenic; other |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT SWAN |
| RS137852504 |
HPRT1
|
Health Risk |
Pathogenic; other |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, HPRT MOOSE JAW |
| RS137852505 |
HPRT1
|
Health Risk |
Pathogenic; other |
Lesch-Nyhan syndrome, HPRT PARIS |
| RS137852506 |
HPRT1
|
Health Risk |
Pathogenic |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency |
| RS137852507 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852508 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852509 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852510 |
IL2RG
|
Health Risk |
Pathogenic |
Combined immunodeficiency, X-linked |
| RS137852512 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS137852513 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS137852514 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS137852515 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS137852516 |
ANOS1
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |
| RS137852517 |
ANOS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia |