| RS587783457 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHD7-related disorder |
| RS587783458 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, Inborn genetic diseases |
| RS587783459 |
CHD7
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS587783460 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783461 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783463 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783464 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783465 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783466 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1 |
| RS587783467 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783469 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783470 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783471 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783473 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783474 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783475 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783476 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783477 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783478 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783479 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783480 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783481 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783482 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783483 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Intellectual disability |
| RS587783484 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783485 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783486 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783488 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783489 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783490 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783491 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783492 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783493 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783494 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783495 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783496 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783497 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783499 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783500 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783501 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783502 |
CREBBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder |
| RS587783503 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783504 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783505 |
CREBBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1 |
| RS587783506 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783507 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783508 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783509 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder |
| RS587783510 |
CREBBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783511 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783512 |
CREBBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783515 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS587783516 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome |
| RS587783517 |
D2HGDH
|
Health Risk |
Conflicting classifications of pathogenicity |
D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1 |
| RS587783518 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783519 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Inborn genetic diseases |
| RS587783520 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783521 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783522 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783523 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783524 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783525 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783526 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783527 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783528 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783529 |
DCX
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectopic tissue, Neurodevelopmental disorder |
| RS587783530 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783531 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783532 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783533 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783534 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783535 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783536 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783537 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783538 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783539 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783540 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783541 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783542 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783544 |
DCX
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectopic tissue, Ectopic tissue |
| RS587783545 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783546 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783547 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783548 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783549 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783550 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783551 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783552 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783553 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783554 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783555 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783556 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783557 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783558 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783559 |
DCX
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation |
| RS587783560 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783561 |
DCX
|
Health Risk |
Likely pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783562 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |
| RS587783563 |
DCX
|
Health Risk |
Conflicting classifications of pathogenicity |
Ectopic tissue, Ectopic tissue |
| RS587783564 |
DCX
|
Health Risk |
Pathogenic |
Ectopic tissue, Ectopic tissue |