| RS2133606135 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133607319 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS2133607510 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS2133607689 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133608987 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133609624 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133609831 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133612592 |
PLCE1
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, Nephrotic syndrome |
| RS2133612740 |
SFXN4
|
Health Risk |
Pathogenic |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| RS2133616750 |
ABCC8
|
Health Risk |
Pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2133619660 |
BMPR1A
|
Health Risk |
Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133619953 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS2133620284 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133621480 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS2133622305 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS2133623802 |
BMPR1A
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133626470 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133626786 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133637043 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133637251 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133637853 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133646979 |
PCDH15
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS2133650052 |
PRDX3
|
Health Risk |
Pathogenic |
Corneal dystrophy, punctiform and polychromatic pre-descemet |
| RS2133650175 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Familial prostate cancer |
| RS2133652254 |
PCDH15
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS2133653927 |
KAT6B
|
Health Risk |
Likely pathogenic |
— |
| RS2133657826 |
CTSD
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133657906 |
CTSD
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133659317 |
PRDX3
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia, autosomal recessive 32 |
| RS2133659840 |
CTSD
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS2133663216 |
ANO5
|
Health Risk |
Pathogenic |
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133664431 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS2133668102 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS2133668728 |
CTSD
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis |
| RS2133672742 |
INS
|
Health Risk |
Likely pathogenic |
Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672778 |
INS
|
Health Risk |
Likely pathogenic |
Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672883 |
INS
|
Health Risk |
Likely pathogenic |
Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133672927 |
INS
|
Health Risk |
Likely pathogenic |
— |
| RS2133673643 |
PLCE1
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, Nephrotic syndrome |
| RS2133673996 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2133674070 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133674310 |
EIF3F
|
Health Risk |
Pathogenic |
Intellectual developmental disorder, autosomal recessive 67 |
| RS2133675152 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133676660 |
INS
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10 |
| RS2133676747 |
INS
|
Health Risk |
Likely pathogenic |
— |
| RS2133678848 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2133679133 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133679771 |
ABCC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2133680142 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133680286 |
ABCC8
|
Health Risk |
Likely pathogenic |
Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133680409 |
ABCC8
|
Health Risk |
Likely pathogenic |
Neonatal diabetes mellitus, Neonatal diabetes mellitus |
| RS2133680501 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2133680513 |
ABCC8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2133686936 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133686985 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133689285 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133689319 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133689324 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133689570 |
KAT6B
|
Health Risk |
Likely pathogenic |
— |
| RS2133690169 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690361 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690407 |
TH
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690417 |
TH
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133690469 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133691221 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133692289 |
TH
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133692304 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133693369 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133693561 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133696288 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133697599 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS2133698720 |
SLC25A22
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2133700632 |
SLC25A22
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2133702082 |
SLC25A22
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS2133702263 |
ANO5
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133704072 |
ANO5
|
Health Risk |
Pathogenic |
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133707948 |
OTOG
|
Health Risk |
Pathogenic |
— |
| RS2133709057 |
OTOG
|
Health Risk |
Likely pathogenic |
— |
| RS2133710956 |
NDUFB8
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 32 |
| RS2133710981 |
OTOG
|
Health Risk |
Pathogenic |
— |
| RS2133711315 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia |
| RS2133711362 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS2133711374 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2133711631 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Diabetes mellitus, permanent neonatal 3 |
| RS2133718612 |
WDR11
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia |
| RS2133726005 |
SLC18A2
|
Health Risk |
Pathogenic |
— |
| RS2133726899 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2133728249 |
ABCC8
|
Health Risk |
Likely pathogenic |
— |
| RS2133728449 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS2133728692 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome 1 |
| RS2133730365 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Cardiac arrhythmia |
| RS2133730668 |
ANO5
|
Health Risk |
Likely pathogenic |
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133730716 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2133730742 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Short QT syndrome type 2 |
| RS2133732704 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2133733048 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS2133733054 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2133733071 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Cardiovascular phenotype |
| RS2133733164 |
KAT6B
|
Health Risk |
Pathogenic |
Blepharophimosis - intellectual disability syndrome, SBBYS type |
| RS2133737085 |
ABCC8
|
Health Risk |
Pathogenic |
— |