| RS1591779373 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591788932 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1591789046 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1591789955 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591790165 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591794603 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591794677 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591797830 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591828796 |
PKP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 |
| RS1591832463 |
ABCC8
|
Health Risk |
Pathogenic |
Familial hyperinsulinism, Maturity-onset diabetes of the young |
| RS1591833159 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591833497 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591833522 |
SOX5
|
Health Risk |
Likely pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591833842 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591834223 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591834850 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591836930 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 3 |
| RS1591838792 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591838814 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 3 |
| RS1591838833 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591838900 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS1591841452 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591845922 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591848387 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591857613 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591858979 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS1591862022 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591862342 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591862366 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591863294 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591863438 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 2, von Willebrand disease type 1 |
| RS1591865026 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, Reduced von Willebrand factor activity |
| RS1591865617 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 2 |
| RS1591866220 |
VWF
|
Health Risk |
Likely pathogenic |
Abnormality of coagulation, Abnormality of coagulation |
| RS1591867991 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 1, Heterotopia |
| RS1591870340 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591874316 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591885290 |
DDX6
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885297 |
DDX6
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885305 |
DDX6
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885314 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591885383 |
DDX6
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591885401 |
DDX6
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies |
| RS1591886521 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS1591889534 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS1591890137 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS1591890769 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS1591892666 |
ST14
|
Health Risk |
Likely pathogenic |
— |
| RS1591895308 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, VWF-related disorder |
| RS1591895879 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591896019 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591896370 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS1591901585 |
LRP6
|
Health Risk |
Pathogenic |
Oligodontia, Tooth agenesis |
| RS1591908568 |
SOX5
|
Health Risk |
Likely pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591908609 |
SOX5
|
Health Risk |
Conflicting classifications of pathogenicity |
Lamb-Shaffer syndrome, Inborn genetic diseases |
| RS1591908680 |
SOX5
|
Health Risk |
Pathogenic/Likely pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1591909421 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Inborn genetic diseases |
| RS1591914708 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591916038 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591924188 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591924208 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591928554 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591928903 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus |
| RS1591928988 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young |
| RS1591950473 |
ABCC9
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1591961566 |
USH1C
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1591973610 |
RECQL
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591981379 |
RECQL
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591981391 |
RECQL
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591988737 |
RECQL
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591999307 |
USH1C
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1592002789 |
USH1C
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1592013653 |
FHIP2A
|
Health Risk |
Likely pathogenic |
Syndromic intellectual disability, Syndromic intellectual disability |
| RS1592045411 |
TNFRSF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS) |
| RS1592047560 |
TNFRSF1A
|
Health Risk |
Pathogenic |
CHARGE syndrome, CHARGE syndrome |
| RS1592074026 |
SCNN1A
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism, type IB1 |
| RS1592090713 |
ZEB1
|
Health Risk |
Pathogenic |
— |
| RS1592095957 |
WNK1
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2C, Neuropathy |
| RS1592096494 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS1592099335 |
KMT2D
|
Health Risk |
Pathogenic |
— |
| RS1592099396 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1592099852 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Lamb-Shaffer syndrome |
| RS1592102369 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1592105909 |
KMT2D
|
Health Risk |
Pathogenic/Likely pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1592106062 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome, Kabuki syndrome |
| RS1592106220 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1592106511 |
KMT2D
|
Health Risk |
Pathogenic |
— |
| RS1592106640 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome, Kabuki syndrome |
| RS1592106879 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome 1, Kabuki syndrome 1 |
| RS1592107594 |
SLC37A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1592107753 |
VDR
|
Health Risk |
Pathogenic |
Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia |
| RS1592108170 |
ERC1
|
Health Risk |
Likely pathogenic |
Macrocephaly, dysmorphic facies |
| RS1592109970 |
SLC37A4
|
Health Risk |
Likely pathogenic |
Glucose-6-phosphate transport defect, Phosphate transport defect |
| RS1592110749 |
KMT2D
|
Health Risk |
Likely pathogenic |
Kabuki syndrome, Kabuki syndrome |
| RS1592111112 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1592111172 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1592111559 |
SLC37A4
|
Health Risk |
Likely pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS1592112854 |
KMT2D
|
Health Risk |
Pathogenic |
Kabuki syndrome, Kabuki syndrome |
| RS1592115698 |
PDE3A
|
Health Risk |
Likely pathogenic |
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |
| RS1592116475 |
KMT2D
|
Health Risk |
Pathogenic |
— |