| RS587783039 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS587783040 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS587783041 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS587783042 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS587783043 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS587783047 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587783048 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587783049 |
CDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS587783050 |
CDH1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS587783053 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS587783055 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS587783056 |
MSH6
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS587783057 |
MUTYH
|
Health Risk |
Pathogenic |
Carcinoma of colon, Familial adenomatous polyposis 2 |
| RS587783060 |
SMAD4
|
Health Risk |
Pathogenic |
Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome |
| RS587783062 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome |
| RS587783064 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS587783070 |
IARS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Peripheral neuropathy, Cataract |
| RS587783071 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS587783072 |
CDKL5
|
Health Risk |
Conflicting classifications of pathogenicity |
Atypical Rett syndrome, CDKL5 disorder |
| RS587783073 |
CDKL5
|
Health Risk |
Pathogenic |
CDKL5 disorder, CDKL5 disorder |
| RS587783074 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783075 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783077 |
CDKL5
|
Health Risk |
Pathogenic |
CDKL5 disorder, CDKL5 disorder |
| RS587783078 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783080 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS587783081 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783083 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783084 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783085 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783086 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783087 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783088 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS587783089 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783091 |
MECP2
|
Health Risk |
Pathogenic |
— |
| RS587783092 |
MECP2
|
Health Risk |
Pathogenic |
Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly |
| RS587783095 |
MECP2
|
Health Risk |
Pathogenic |
— |
| RS587783096 |
ARX
|
Health Risk |
Pathogenic |
— |
| RS587783097 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, See cases |
| RS587783109 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783110 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783111 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS587783112 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783113 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783115 |
CDKL5
|
Health Risk |
Pathogenic/Likely pathogenic |
CDKL5 disorder, Developmental and epileptic encephalopathy |
| RS587783116 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783117 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783118 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783119 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783120 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783121 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783123 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS587783124 |
CDKL5
|
Health Risk |
Pathogenic |
CDKL5-related disorder, CDKL5-related disorder |
| RS587783125 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783126 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783130 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783131 |
CDKL5
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783132 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS587783136 |
MECP2
|
Health Risk |
Pathogenic |
— |
| RS587783141 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 1 |
| RS587783145 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783149 |
CDKL5
|
Health Risk |
Likely pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS587783151 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783153 |
CDKL5
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 2 |
| RS587783155 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS587783158 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS587783159 |
CDKL5
|
Health Risk |
Pathogenic |
Thyroid cancer, nonmedullary |
| RS587783169 |
ABCC8
|
Health Risk |
Pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS587783171 |
ABCC8
|
Health Risk |
Pathogenic |
— |
| RS587783179 |
AP4B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 47, Spastic paraplegia |
| RS587783182 |
ARX
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 1 |
| RS587783183 |
ARX
|
Health Risk |
Likely pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783184 |
ARX
|
Health Risk |
Likely pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783185 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
epileptic encephalopathy, early infanitle |
| RS587783187 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783189 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783191 |
ARX
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 1 |
| RS587783192 |
ARX
|
Health Risk |
Pathogenic |
epileptic encephalopathy, early infanitle |
| RS587783193 |
ARX
|
Health Risk |
Pathogenic |
— |
| RS587783194 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 1 |
| RS587783195 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS587783196 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
epileptic encephalopathy, early infanitle |
| RS587783199 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783200 |
ARX
|
Health Risk |
Pathogenic |
epileptic encephalopathy, early infanitle |
| RS587783202 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS587783203 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
epileptic encephalopathy, early infanitle |
| RS587783204 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
epileptic encephalopathy, early infanitle |
| RS587783211 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783215 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783216 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783218 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 5, primary |
| RS587783220 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783221 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783224 |
ASPM
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS587783225 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783227 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783228 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783230 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783238 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |
| RS587783239 |
ASPM
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 5, primary |
| RS587783240 |
ASPM
|
Health Risk |
Pathogenic |
Microcephaly 5, primary |