| RS869025623 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025624 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025625 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025626 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025627 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025628 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025629 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025630 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025631 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025632 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025633 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025634 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025636 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025637 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025638 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025640 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025641 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025642 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025643 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025644 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025645 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025646 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025647 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025648 |
VHL
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome |
| RS869025649 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025650 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025651 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025652 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025653 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025655 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025656 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025657 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Clear cell carcinoma of kidney |
| RS869025659 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025660 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025661 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025663 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Pheochromocytoma |
| RS869025664 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025666 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome |
| RS869025667 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS869025668 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS869025670 |
FGFR1
|
Health Risk |
Pathogenic |
Hartsfield-Bixler-Demyer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia |
| RS869025671 |
FGFR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome |
| RS869026199 |
NTRK1
|
Health Risk |
Pathogenic |
Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS869038795 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1A, Cardiomyopathy |
| RS869040219 |
SLC46A1
|
Health Risk |
Pathogenic |
— |
| RS869040376 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS869040863 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS869066130 |
RPS19
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS869067204 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS869069617 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiovascular phenotype |
| RS869087022 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS869125101 |
LMNA
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS869160449 |
BAP1
|
Health Risk |
Pathogenic |
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS869178171 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS869196514 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS869238992 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS869244899 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869248137 |
BAG3
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Myofibrillar myopathy 6 |
| RS869249241 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS869254878 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta with normal sclerae |
| RS869264218 |
RB1
|
Health Risk |
Pathogenic |
Retinoblastoma, Retinoblastoma |
| RS869284162 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869300423 |
SUFU
|
Health Risk |
Pathogenic |
Gorlin syndrome, Medulloblastoma |
| RS869312028 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312029 |
SLC25A38
|
Health Risk |
Pathogenic |
Sideroblastic anemia 2, Sideroblastic anemia 2 |
| RS869312030 |
LMAN1
|
Health Risk |
Pathogenic |
Factor V and factor VIII, combined deficiency of |
| RS869312031 |
LMAN1
|
Health Risk |
Pathogenic |
Factor V and factor VIII, combined deficiency of |
| RS869312032 |
LMAN1
|
Health Risk |
Pathogenic |
Factor V and factor VIII, combined deficiency of |
| RS869312033 |
LMAN1
|
Health Risk |
Pathogenic |
Factor V and factor VIII, combined deficiency of |
| RS869312034 |
COL3A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, type 4 |
| RS869312037 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312038 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312039 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312040 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312041 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312042 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312043 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312044 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312045 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312046 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312047 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312048 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312049 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312050 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312051 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312052 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312054 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS869312055 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312056 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312057 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312058 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312059 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS869312060 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312061 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312062 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312063 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312064 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312065 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Wolff-Parkinson-White pattern |
| RS869312066 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS869312067 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |