| RS80356690 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS80356691 |
CLCN1
|
Health Risk |
Pathogenic |
Batten-Turner congenital myopathy, Congenital myotonia |
| RS80356692 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS80356694 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS80356695 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS80356696 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Myotonia levior, Batten-Turner congenital myopathy |
| RS80356697 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS80356699 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS80356700 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS80356701 |
CLCN1
|
Health Risk |
Pathogenic |
Batten-Turner congenital myopathy, Congenital myotonia |
| RS80356702 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS80356703 |
CLCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS80356704 |
CLCN1
|
Health Risk |
Pathogenic |
Batten-Turner congenital myopathy, Congenital myotonia |
| RS80356708 |
GRHPR
|
Health Risk |
Pathogenic |
Primary hyperoxaluria, type II |
| RS80356710 |
PRNP
|
Health Risk |
Pathogenic |
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
| RS80356711 |
PRNP
|
Health Risk |
Pathogenic |
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED |
| RS80356713 |
ABCB7
|
Health Risk |
Likely pathogenic |
X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia |
| RS80356714 |
ABCB7
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia |
| RS80356715 |
TARDBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356717 |
TARDBP
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356718 |
TARDBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356719 |
TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, Motor neuron disease |
| RS80356721 |
MASP2;TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356723 |
TARDBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356725 |
TARDBP
|
Health Risk |
Likely pathogenic |
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356726 |
TARDBP
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356727 |
TARDBP
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356730 |
TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356731 |
TARDBP
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356732 |
TARDBP
|
Health Risk |
Pathogenic |
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356733 |
TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356734 |
TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356740 |
TARDBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356741 |
TARDBP
|
Health Risk |
Conflicting classifications of pathogenicity |
TARDBP-related disorder, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356742 |
TARDBP
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356750 |
ATP6V0A2
|
Health Risk |
Pathogenic |
Cutis laxa with osteodystrophy, Cutis laxa |
| RS80356751 |
ATP6V0A2
|
Health Risk |
Pathogenic |
Wrinkly skin syndrome, Cutis laxa with osteodystrophy |
| RS80356753 |
ATP6V0A2
|
Health Risk |
Pathogenic |
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation |
| RS80356755 |
ATP6V0A2
|
Health Risk |
Pathogenic |
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation |
| RS80356756 |
ATP6V0A2
|
Health Risk |
Likely pathogenic |
Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy |
| RS80356758 |
ATP6V0A2
|
Health Risk |
Pathogenic |
Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation |
| RS80356763 |
GBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gaucher disease perinatal lethal, Gaucher disease |
| RS80356768 |
GBA1
|
Health Risk |
Pathogenic |
Gaucher disease perinatal lethal, Gaucher disease |
| RS80356769 |
GBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gaucher disease type III, Gaucher disease type I |
| RS80356771 |
GBA1
|
Health Risk |
Pathogenic |
Gaucher disease type II, Gaucher disease type III |
| RS80356772 |
GBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gaucher disease, Gaucher disease type I |
| RS80356774 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356775 |
CPT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356776 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356777 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356778 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356779 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, CPT1A ARCTIC VARIANT |
| RS80356780 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356782 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356783 |
CPT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356784 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356787 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356790 |
CPT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356791 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356798 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356800 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS80356804 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS80356807 |
LMNA
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2 |
| RS80356812 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS80356820 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS80356821 |
HBB
|
Health Risk |
Pathogenic/Likely pathogenic |
Beta zero thalassemia, beta Thalassemia |
| RS80356830 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS80356832 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80356835 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS80356838 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356848 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS80356849 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Breast-ovarian cancer |
| RS80356853 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356854 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356857 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80356858 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS80356859 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356860 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80356861 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356862 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80356863 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356864 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80356865 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356866 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356867 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356868 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356869 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356870 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356872 |
BRCA1
|
Health Risk |
Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80356873 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356875 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356877 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356878 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356879 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80356880 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS80356881 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS80356884 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356885 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |
| RS80356887 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS80356888 |
BRCA1
|
Health Risk |
Pathogenic |
Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer |