| RS121918661 |
TERT
|
Health Risk |
Conflicting classifications of pathogenicity |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS121918662 |
TERT
|
Health Risk |
Conflicting classifications of pathogenicity |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS121918665 |
TERT
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal dominant 2 |
| RS121918666 |
TERT
|
Health Risk |
Pathogenic/Likely pathogenic |
Pulmonary fibrosis and/or bone marrow failure, Telomere-related |
| RS121918668 |
TSHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS121918669 |
TSHB
|
Health Risk |
Pathogenic |
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS121918670 |
TSHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Isolated thyroid-stimulating hormone deficiency, TSHB-related disorder |
| RS121918671 |
HNF1B
|
Health Risk |
Pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS121918672 |
HNF1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal cysts and diabetes syndrome, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |
| RS121918673 |
HNF1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Type 2 diabetes mellitus, Renal cysts and diabetes syndrome |
| RS121918674 |
HNF1B
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS121918675 |
HNF1B
|
Health Risk |
Likely pathogenic |
Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young |
| RS121918676 |
TF
|
Health Risk |
Pathogenic |
Transferrin variant D1, Transferrin variant D1 |
| RS121918678 |
TF
|
Health Risk |
Pathogenic |
Transferrin variant Bv, Transferrin variant Bv |
| RS121918679 |
TF
|
Health Risk |
Pathogenic |
Atransferrinemia, Atransferrinemia |
| RS121918681 |
TF
|
Health Risk |
Pathogenic |
Atransferrinemia, Atransferrinemia |
| RS121918683 |
MYC
|
Health Risk |
Pathogenic |
Burkitt lymphoma, Burkitt lymphoma |
| RS121918684 |
MYC
|
Health Risk |
Pathogenic |
Burkitt lymphoma, Burkitt lymphoma |
| RS121918686 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918687 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918688 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918690 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918691 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918692 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918693 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918694 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918695 |
THRB
|
Health Risk |
Pathogenic |
Selective pituitary resistance to thyroid hormone, Thyroid hormone resistance |
| RS121918696 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918697 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918698 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918700 |
THRB
|
Health Risk |
Pathogenic |
Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone |
| RS121918701 |
THRB
|
Health Risk |
Pathogenic |
Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone |
| RS121918702 |
THRB
|
Health Risk |
Pathogenic |
Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone |
| RS121918703 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918704 |
THRB
|
Health Risk |
Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918705 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918706 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918707 |
THRB
|
Health Risk |
Pathogenic |
Thyroid hormone resistance, generalized |
| RS121918708 |
THRB
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid hormone resistance, generalized |
| RS121918709 |
THRB
|
Health Risk |
Pathogenic |
Selective pituitary resistance to thyroid hormone, Selective pituitary resistance to thyroid hormone |
| RS121918710 |
TGFBR1
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1 |
| RS121918711 |
TGFBR1
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1 |
| RS121918712 |
TGFBR1
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1 |
| RS121918714 |
TGFBR2
|
Health Risk |
Likely pathogenic |
Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection |
| RS121918715 |
TGFBR2
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2 |
| RS121918716 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918717 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918718 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Abnormality of the skin |
| RS121918719 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Abnormality of the skin |
| RS121918720 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918721 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS121918722 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918723 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Abnormality of the skin |
| RS121918724 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918725 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918726 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS121918727 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, TGM1-related disorder |
| RS121918728 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS121918729 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS121918730 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS121918731 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |
| RS121918732 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Congenital ichthyosiform erythroderma |
| RS121918733 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918734 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus |
| RS121918735 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Seizure |
| RS121918736 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Seizure |
| RS121918737 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Migraine |
| RS121918738 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Inborn genetic diseases |
| RS121918739 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS121918740 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918741 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918742 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918744 |
SCN1A
|
Health Risk |
Pathogenic |
Generalized epilepsy with febrile seizures plus, type 1 |
| RS121918745 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918746 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS121918748 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Generalized epilepsy with febrile seizures plus, type 2 |
| RS121918750 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy |
| RS121918751 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Seizure |
| RS121918753 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Inborn genetic diseases |
| RS121918754 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918756 |
SCN1A
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Generalized epilepsy with febrile seizures plus |
| RS121918757 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS121918763 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918764 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918765 |
SCN1A
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS121918767 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918768 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918770 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918771 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Migraine |
| RS121918773 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918774 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS121918775 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus |
| RS121918776 |
SCN1A
|
Health Risk |
Likely pathogenic |
Seizure, Seizure |
| RS121918777 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, SCN1A-related disorder |
| RS121918778 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918779 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS121918780 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B |
| RS121918781 |
SCN1A
|
Health Risk |
Pathogenic |
Generalized epilepsy with febrile seizures plus, type 1 |
| RS121918782 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Generalized epilepsy with febrile seizures plus, type 1 |
| RS121918783 |
SCN1A
|
Health Risk |
Pathogenic |
Generalized epilepsy with febrile seizures plus, type 1 |