| RS121908687 |
PLA2G6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy |
| RS121908688 |
RAD54L
|
Health Risk |
Pathogenic |
Colon adenocarcinoma, Colon adenocarcinoma |
| RS121908689 |
RAD54L
|
Health Risk |
Pathogenic |
Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |
| RS121908690 |
RAD54L
|
Health Risk |
Pathogenic |
Breast ductal adenocarcinoma, Breast ductal adenocarcinoma |
| RS121908695 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS121908698 |
CHEK2
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS121908700 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS121908701 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS121908702 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS121908703 |
CHEK2
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS121908705 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS121908706 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS121908707 |
CHEK2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS121908710 |
CHEK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS121908714 |
ADA
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908715 |
ADA
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908716 |
ADA
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908717 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908718 |
ADA
|
Health Risk |
Likely pathogenic |
Partial adenosine deaminase deficiency, Severe combined immunodeficiency |
| RS121908719 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908721 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908722 |
ADA
|
Health Risk |
Likely pathogenic |
SCID due to ADA deficiency, delayed onset |
| RS121908723 |
ADA
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908724 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908725 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908727 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908730 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908731 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908733 |
ADA
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe combined immunodeficiency, autosomal recessive |
| RS121908735 |
ADA
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908739 |
ADA
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe combined immunodeficiency, autosomal recessive |
| RS121908740 |
ADA
|
Health Risk |
Likely pathogenic |
Partial adenosine deaminase deficiency, Severe combined immunodeficiency |
| RS121908745 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908746 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908748 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908749 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908750 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908751 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908752 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, ivacaftor response - Efficacy |
| RS121908754 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908755 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, ivacaftor response - Efficacy |
| RS121908758 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908759 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Hereditary pancreatitis |
| RS121908760 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908761 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908763 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908764 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908765 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908766 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121908767 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908768 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908769 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908770 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908771 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908772 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908773 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121908774 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908775 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908776 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908777 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS121908779 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908780 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908781 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908782 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908784 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908785 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908788 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908789 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908790 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS121908791 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908792 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS121908793 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908794 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908796 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908797 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908798 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS121908799 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908800 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908801 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908802 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS121908803 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908804 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908805 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908808 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908809 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS121908810 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908811 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS121908812 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS121908813 |
TMEM127
|
Health Risk |
Likely pathogenic |
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS121908814 |
TMEM127
|
Health Risk |
Pathogenic |
Pheochromocytoma, Hereditary cancer-predisposing syndrome |
| RS121908815 |
TMEM127
|
Health Risk |
Pathogenic |
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS121908816 |
TMEM127
|
Health Risk |
Pathogenic |
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS121908817 |
TMEM127
|
Health Risk |
Likely pathogenic; risk factor |
Pheochromocytoma, susceptibility to |
| RS121908818 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS121908821 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma, susceptibility to |
| RS121908822 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS121908825 |
TMEM127
|
Health Risk |
Pathogenic |
Pheochromocytoma, Hereditary cancer-predisposing syndrome |
| RS121908826 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Pheochromocytoma, susceptibility to |
| RS121908827 |
TMEM127
|
Health Risk |
Likely pathogenic |
Pheochromocytoma, Pheochromocytoma |
| RS121908829 |
TMEM127
|
Health Risk |
Likely pathogenic |
Pheochromocytoma, Pheochromocytoma |