| RS869312770 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS869312771 |
MUTYH
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869312772 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS869312774 |
PALB2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS869312776 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome, PTEN hamartoma tumor syndrome |
| RS869312777 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome, Cowden syndrome |
| RS869312778 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome, Cowden syndrome 1 |
| RS869312779 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome, Hereditary cancer-predisposing syndrome |
| RS869312780 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome, Cowden syndrome |
| RS869312781 |
SMAD4
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS869312782 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1 |
| RS869312783 |
BMPR1A
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869312786 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS869312788 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS869312790 |
BMPR1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869312791 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS869312795 |
GREM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS869312796 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS869312797 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS869312798 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS869312801 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS869312803 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS869312806 |
SLC9A3
|
Health Risk |
Pathogenic |
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869312807 |
SLC9A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8 |
| RS869312809 |
VPS13C
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 23, Parkinson disease |
| RS869312810 |
VPS13C
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 23, Parkinson disease |
| RS869312811 |
VPS13C
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 23, Parkinson disease |
| RS869312812 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312813 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312814 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312815 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312816 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312817 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312819 |
RCBTB1
|
Health Risk |
Likely pathogenic |
Coats disease, Familial exudative vitreoretinopathy |
| RS869312821 |
GNB1
|
Health Risk |
Pathogenic |
Global developmental delay, Intellectual disability |
| RS869312822 |
GNB1
|
Health Risk |
Pathogenic |
6 conditions, Neurodevelopmental Disability |
| RS869312823 |
GNB1
|
Health Risk |
Pathogenic/Likely pathogenic |
8 conditions, Intellectual disability |
| RS869312824 |
GNB1
|
Health Risk |
Pathogenic/Likely pathogenic |
14 conditions, Neurodevelopmental Disability |
| RS869312825 |
GNB1
|
Health Risk |
Pathogenic |
10 conditions, Intellectual disability |
| RS869312826 |
GNB1
|
Health Risk |
Likely pathogenic |
Bilateral tonic-clonic seizure, Intellectual disability |
| RS869312827 |
TRIP4
|
Health Risk |
Pathogenic/Likely pathogenic |
Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS869312829 |
SETD1A
|
Health Risk |
Pathogenic |
Schizophrenia, Schizophrenia |
| RS869312830 |
SETD1A
|
Health Risk |
Pathogenic |
Schizophrenia, Schizophrenia |
| RS869312831 |
SETD1A
|
Health Risk |
Pathogenic |
Schizophrenia, Schizophrenia |
| RS869312832 |
SETD1A
|
Health Risk |
Pathogenic |
Schizophrenia, Schizophrenia |
| RS869312833 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS869312834 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS869312835 |
AP3B1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312836 |
AP3B1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312837 |
AP3B1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2 |
| RS869312838 |
AP3B1
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome |
| RS869312840 |
CSNK2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Okur-Chung neurodevelopmental syndrome, Inborn genetic diseases |
| RS869312841 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS869312842 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS869312843 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS869312844 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS869312845 |
CSNK2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Okur-Chung neurodevelopmental syndrome, Inborn genetic diseases |
| RS869312846 |
CSNK2A1
|
Health Risk |
Pathogenic |
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome |
| RS869312847 |
HIVEP2
|
Health Risk |
Pathogenic |
HIVEP2-related disorder, Intellectual disability |
| RS869312848 |
CSNK2A1
|
Health Risk |
Pathogenic |
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome |
| RS869312849 |
CSNK2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome |
| RS869312852 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS869312853 |
CEP152
|
Health Risk |
Pathogenic |
Microcephaly 9, primary |
| RS869312855 |
RTEL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Interstitial lung disease 2, Interstitial lung disease 2 |
| RS869312856 |
KIAA0586
|
Health Risk |
Pathogenic |
Joubert syndrome 23, Joubert syndrome 23 |
| RS869312857 |
IL7R
|
Health Risk |
Pathogenic |
Immunodeficiency 104, Multiple sclerosis |
| RS869312858 |
AHDC1
|
Health Risk |
Pathogenic |
Cerebral visual impairment and intellectual disability, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS869312859 |
DLG4
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral visual impairment and intellectual disability, Intellectual developmental disorder 62 |
| RS869312860 |
SLC35A2
|
Health Risk |
Likely pathogenic |
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS869312861 |
GABRB2
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Developmental and epileptic encephalopathy 92 |
| RS869312862 |
AMOT
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312863 |
UHMK1
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312864 |
SLC25A16
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312865 |
GRIN1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant |
| RS869312866 |
KCTD19
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312867 |
SOX5
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312868 |
GRIN2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS869312869 |
ZFP30
|
Health Risk |
Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312870 |
ATP6V1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |
| RS869312871 |
RERE
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral visual impairment and intellectual disability, Neurodevelopmental disorder with or without anomalies of the brain |
| RS869312873 |
NALCN
|
Health Risk |
Pathogenic |
Seizure, Cachexia |
| RS869312875 |
MED13L
|
Health Risk |
Pathogenic |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome |
| RS869312877 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Inborn genetic diseases |
| RS869312878 |
AUTS2
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS869312880 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS869312881 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Cardiomyopathy |
| RS869312882 |
MT-ND6
|
Health Risk |
Pathogenic |
Oxyphilic adenoma, Oxyphilic adenoma |
| RS869312883 |
IKZF1
|
Health Risk |
Pathogenic |
Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations |
| RS869312884 |
IKZF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Pancytopenia due to IKZF1 mutations, Inherited Immunodeficiency Diseases |
| RS869312886 |
PGM3
|
Health Risk |
Pathogenic |
Immunodeficiency 23, Immunodeficiency 23 |
| RS869312887 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312888 |
STAT3
|
Health Risk |
Pathogenic/Likely pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3 gain of function |
| RS869312889 |
STAT3
|
Health Risk |
Pathogenic/Likely pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312890 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3 gain of function |
| RS869312891 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312892 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, Hyper-IgE recurrent infection syndrome 1 |
| RS869312893 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312894 |
STAT3
|
Health Risk |
Pathogenic |
STAT3-related early-onset multisystem autoimmune disease, STAT3-related early-onset multisystem autoimmune disease |
| RS869312895 |
ANTXR1
|
Health Risk |
Likely pathogenic |
GAPO syndrome, GAPO syndrome |
| RS869312896 |
ANTXR1
|
Health Risk |
Likely pathogenic |
GAPO syndrome, GAPO syndrome |