| RS104893618 |
CRYGC
|
Health Risk |
Pathogenic |
Cataract 2, Coppock-like |
| RS104893619 |
CNGA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Achromatopsia 2, Achromatopsia |
| RS104893620 |
CNGA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Achromatopsia 2, Achromatopsia |
| RS104893621 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia 2, Achromatopsia |
| RS104893622 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Glaucoma 3A, CYP1B1-related glaucoma with or without anterior segment dysgenesis |
| RS104893623 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Anterior segment dysgenesis 6, Anterior segment dysgenesis 6 |
| RS104893624 |
CXCR4
|
Health Risk |
Pathogenic |
Warts, hypogammaglobulinemia |
| RS104893625 |
CXCR4
|
Health Risk |
Pathogenic |
WHIM syndrome 1, WHIM syndrome 1 |
| RS104893626 |
CXCR4
|
Health Risk |
Likely pathogenic |
Warts, hypogammaglobulinemia |
| RS104893628 |
CYP1B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glaucoma 3A, Primary congenital glaucoma |
| RS104893629 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Glaucoma, primary open angle |
| RS104893630 |
DGUOK
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| RS104893631 |
DGUOK
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS104893632 |
DGUOK
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Inborn genetic diseases |
| RS104893633 |
DGUOK
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension |
| RS104893634 |
HOXD10
|
Health Risk |
Pathogenic |
Congenital vertical talus, Congenital vertical talus |
| RS104893635 |
HOXD13
|
Health Risk |
Pathogenic |
Syndactyly type 5, Syndactyly type 5 |
| RS104893637 |
MATN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia |
| RS104893639 |
MATN3
|
Health Risk |
Pathogenic |
Spondyloepimetaphyseal dysplasia, matrilin-3 type |
| RS104893641 |
MATN3
|
Health Risk |
Pathogenic |
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5 |
| RS104893642 |
IRS1
|
Health Risk |
Pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS104893644 |
KHK
|
Health Risk |
Pathogenic |
Essential fructosuria, Essential fructosuria |
| RS104893645 |
MATN3
|
Health Risk |
Pathogenic |
Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia |
| RS104893646 |
MYCN
|
Health Risk |
Pathogenic |
Feingold syndrome type 1, Feingold syndrome |
| RS104893647 |
MYCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Feingold syndrome type 1, Inborn genetic diseases |
| RS104893648 |
MYCN
|
Health Risk |
Conflicting classifications of pathogenicity |
Feingold syndrome type 1, Feingold syndrome |
| RS104893649 |
NEUROD1
|
Health Risk |
Pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS104893650 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS104893651 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 3, Waardenburg syndrome type 1 |
| RS104893652 |
PAX3
|
Health Risk |
Likely pathogenic |
Craniofacial-deafness-hand syndrome, Craniofacial-deafness-hand syndrome |
| RS104893653 |
PAX3
|
Health Risk |
Likely pathogenic |
Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS104893654 |
PAX3
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 3, Waardenburg syndrome type 3 |
| RS104893655 |
PAX8
|
Health Risk |
Pathogenic |
Hypothyroidism, congenital |
| RS104893656 |
PAX8
|
Health Risk |
Pathogenic |
Hypothyroidism, congenital |
| RS104893657 |
PAX8
|
Health Risk |
Pathogenic |
Hypothyroidism, congenital |
| RS104893658 |
PAX8
|
Health Risk |
Pathogenic |
Hypothyroidism, congenital |
| RS104893659 |
PAX8
|
Health Risk |
Pathogenic |
Hypothyroidism, congenital |
| RS104893660 |
PAX8
|
Health Risk |
Likely pathogenic |
Hypothyroidism, congenital |
| RS104893661 |
PEX13
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS104893662 |
SLC40A1
|
Health Risk |
Pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893663 |
SLC40A1
|
Health Risk |
Likely pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893664 |
SLC40A1
|
Health Risk |
Pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893665 |
SPR
|
Health Risk |
Pathogenic |
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder |
| RS104893666 |
SPR
|
Health Risk |
Pathogenic |
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS104893667 |
SRD5A2
|
Health Risk |
Pathogenic |
Micropenis, Micropenis |
| RS104893668 |
ST3GAL5
|
Health Risk |
Pathogenic |
GM3 synthase deficiency, ST3GAL5-related disorder |
| RS104893669 |
TPO
|
Health Risk |
Pathogenic |
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS104893670 |
SLC40A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893671 |
SLC40A1
|
Health Risk |
Likely pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893672 |
SLC40A1
|
Health Risk |
Pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893673 |
SLC40A1
|
Health Risk |
Pathogenic |
Hemochromatosis type 4, Hemochromatosis type 4 |
| RS104893674 |
ZAP70
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency |
| RS104893675 |
ABHD5
|
Health Risk |
Pathogenic |
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS104893677 |
AGTR1
|
Health Risk |
Pathogenic |
Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS104893678 |
ARL6
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 3, Bardet-Biedl syndrome |
| RS104893679 |
ARL6
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 1, modifier of |
| RS104893680 |
ARL6
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 3, Retinitis pigmentosa |
| RS104893681 |
ARL6
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 3 |
| RS104893684 |
BCHE
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS104893686 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity; other |
Biotinidase deficiency, Biotinidase deficiency |
| RS104893687 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS104893688 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, BTD-related disorder |
| RS104893689 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism |
| RS104893690 |
CASR
|
Health Risk |
Pathogenic |
Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1 |
| RS104893691 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant hypocalcemia 1, Nephrolithiasis/nephrocalcinosis |
| RS104893692 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS104893694 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS104893695 |
CASR
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypocalcemia 1, CASR-related disorder |
| RS104893696 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, CASR-related disorder |
| RS104893697 |
CASR
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypocalcemia 1, Epilepsy |
| RS104893698 |
CASR
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypocalcemia 1, Nephrolithiasis/nephrocalcinosis |
| RS104893699 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893700 |
CASR
|
Health Risk |
Pathogenic |
Neonatal severe primary hyperparathyroidism, Neonatal severe primary hyperparathyroidism |
| RS104893701 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS104893702 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893703 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893704 |
CASR
|
Health Risk |
Likely pathogenic |
Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893705 |
CASR
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism |
| RS104893706 |
CASR
|
Health Risk |
Likely pathogenic |
Bartter syndrome with hypocalcemia, Autosomal dominant hypocalcemia 1 |
| RS104893707 |
CASR
|
Health Risk |
Pathogenic |
Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia |
| RS104893708 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant hypocalcemia 1, Bartter syndrome with hypocalcemia |
| RS104893709 |
CASR
|
Health Risk |
Pathogenic |
Neonatal severe primary hyperparathyroidism, Neonatal severe primary hyperparathyroidism |
| RS104893710 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893711 |
CASR
|
Health Risk |
Likely pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893712 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS104893713 |
CAV3
|
Health Risk |
Pathogenic |
Long QT syndrome 9, Long QT syndrome 9 |
| RS104893714 |
CAV3
|
Health Risk |
risk factor |
Long QT syndrome 9, acquired |
| RS104893715 |
CAV3
|
Health Risk |
Pathogenic |
Long QT syndrome 9, Long QT syndrome 9 |
| RS104893716 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia |
| RS104893718 |
CASR
|
Health Risk |
Pathogenic |
Autosomal dominant hypocalcemia 1, Autosomal dominant hypocalcemia 1 |
| RS104893719 |
CASR
|
Health Risk |
Likely pathogenic |
Familial hypocalciuric hypercalcemia 1, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia |
| RS104893720 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893721 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893722 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893723 |
CLDN16
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893724 |
CLDN16
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893725 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893727 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893728 |
CLDN16
|
Health Risk |
Likely pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |
| RS104893729 |
CLDN16
|
Health Risk |
Pathogenic |
Primary hypomagnesemia, Primary hypomagnesemia |