| RS199422308 |
TERT
|
Health Risk |
Pathogenic |
Interstitial lung disease 2, Interstitial lung disease 2 |
| RS199422309 |
TERT
|
Health Risk |
Pathogenic/Likely pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS199422311 |
TINF2
|
Health Risk |
Pathogenic/Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 1 |
| RS199422314 |
TINF2
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 1 |
| RS199422315 |
TINF2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal dominant 1 |
| RS199422316 |
TINF2
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 1 |
| RS199422322 |
TGM1;TINF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal dominant 1 |
| RS199422327 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS199422328 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS199469464 |
SRCAP
|
Health Risk |
Pathogenic |
Floating-Harbor syndrome, Inborn genetic diseases |
| RS199469465 |
SRCAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Floating-Harbor syndrome, Inborn genetic diseases |
| RS199469466 |
SRCAP
|
Health Risk |
Pathogenic |
Floating-Harbor syndrome, Inborn genetic diseases |
| RS199469469 |
PROC
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS199469470 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS199469471 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS199469474 |
PROC
|
Health Risk |
Conflicting classifications of pathogenicity |
Reduced protein C activity, Thrombophilia due to protein C deficiency |
| RS199469476 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS199469478 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS199469484 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS199469491 |
PROS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombophilia due to protein S deficiency, autosomal dominant |
| RS199469494 |
PROS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS199469500 |
PROS1
|
Health Risk |
Likely pathogenic |
Protein S deficiency disease, Protein S deficiency disease |
| RS199469503 |
PROS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Protein S deficiency disease, Thrombophilia due to protein S deficiency |
| RS199469504 |
SERPINC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS199469508 |
SERPINC1
|
Health Risk |
Pathogenic |
SERPINC1-related disorder, SERPINC1-related disorder |
| RS199469623 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469624 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469625 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469626 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469627 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469631 |
KLHL3
|
Health Risk |
Likely pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469632 |
KLHL3
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469633 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469634 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469635 |
KLHL3
|
Health Risk |
Likely pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469636 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469637 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469638 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469639 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469640 |
KLHL3
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469641 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469642 |
KLHL3
|
Health Risk |
Likely pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469643 |
KLHL3
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2A, Renal tubulopathies |
| RS199469644 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469647 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469648 |
KLHL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469649 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469650 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469651 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469652 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469653 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469654 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469655 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469656 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A |
| RS199469657 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469658 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469659 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469660 |
CUL3
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudohypoaldosteronism type 2A, CUL3-related disorder |
| RS199469662 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469663 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469664 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS199469665 |
TTN
|
Health Risk |
Pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS199469696 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Macular schisis |
| RS199469697 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Juvenile retinoschisis |
| RS199469700 |
RS1
|
Health Risk |
Likely pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS199469706 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1D |
| RS199469707 |
TMEM237
|
Health Risk |
Pathogenic |
Joubert syndrome 14, Joubert syndrome |
| RS199470442 |
CHRNA1
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS199470444 |
CHRNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS199470445 |
CHRNA1
|
Health Risk |
Likely pathogenic |
— |
| RS199470447 |
COLQ
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS199470468 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470469 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Genitopatellar syndrome |
| RS199470470 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Inborn genetic diseases |
| RS199470472 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Inborn genetic diseases |
| RS199470473 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Genitopatellar syndrome |
| RS199470475 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Genitopatellar syndrome |
| RS199470476 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470477 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470478 |
KAT6B
|
Health Risk |
Pathogenic |
Genitopatellar syndrome, Genitopatellar syndrome |
| RS199470479 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470480 |
KAT6B
|
Health Risk |
Pathogenic/Likely pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470482 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470483 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199470484 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS199472678 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Congenital long QT syndrome, Cardiovascular phenotype |
| RS199472679 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital long QT syndrome, Long QT syndrome |
| RS199472681 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital long QT syndrome, Long QT syndrome |
| RS199472685 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital long QT syndrome, Long QT syndrome |
| RS199472687 |
KCNQ1
|
Health Risk |
Pathogenic |
Atrial fibrillation, Short QT syndrome type 2 |
| RS199472693 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Congenital long QT syndrome, Long QT syndrome 1 |
| RS199472695 |
KCNQ1
|
Health Risk |
Pathogenic |
Congenital long QT syndrome, Recurrent spontaneous abortion |
| RS199472696 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Congenital long QT syndrome |
| RS199472697 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital long QT syndrome, Long QT syndrome 1 |
| RS199472698 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital long QT syndrome, Long QT syndrome |
| RS199472701 |
KCNQ1
|
Health Risk |
Pathogenic |
Congenital long QT syndrome, Long QT syndrome 1 |
| RS199472702 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital long QT syndrome, Cardiovascular phenotype |
| RS199472705 |
KCNQ1
|
Health Risk |
Pathogenic |
Atrial fibrillation, familial |
| RS199472706 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital long QT syndrome, Long QT syndrome |
| RS199472707 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital long QT syndrome, Long QT syndrome |