| RS1602184316 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS1602185687 |
CYBB
|
Health Risk |
Likely pathogenic |
— |
| RS1602185766 |
CYBB
|
Health Risk |
Likely pathogenic |
— |
| RS1602186299 |
CYBB
|
Health Risk |
Pathogenic |
Granulomatous disease, chronic |
| RS1602190224 |
LARGE1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1602206514 |
PIGA
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602206586 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1602206653 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602208229 |
PIGA
|
Health Risk |
Likely pathogenic |
— |
| RS1602208326 |
PIGA
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602210346 |
SMS
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1602210960 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS1602210996 |
NEXMIF
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1602211044 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS1602211123 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS1602211753 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS1602211821 |
KDM5C
|
Health Risk |
Pathogenic |
— |
| RS1602211981 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS1602212285 |
PIGA
|
Health Risk |
Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| RS1602212476 |
NEXMIF
|
Health Risk |
Likely pathogenic |
— |
| RS1602212618 |
NEXMIF
|
Health Risk |
Pathogenic |
X-linked intellectual disability, Cantagrel type |
| RS1602212778 |
NEXMIF
|
Health Risk |
Pathogenic |
— |
| RS1602218917 |
GATA1
|
Health Risk |
Pathogenic |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS1602219139 |
GATA1
|
Health Risk |
Pathogenic |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia |
| RS1602220170 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS1602220307 |
GATA1
|
Health Risk |
Likely pathogenic |
Anemia, Thrombocytopenia |
| RS1602220695 |
GATA1
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS1602220706 |
SMS
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1602220874 |
AR
|
Health Risk |
Pathogenic |
Androgen resistance syndrome, Kennedy disease |
| RS1602221405 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602221926 |
EDA
|
Health Risk |
Likely pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS1602225800 |
OPHN1
|
Health Risk |
Likely pathogenic |
— |
| RS1602226289 |
KDM5C
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1602226670 |
OPHN1
|
Health Risk |
Pathogenic |
X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome |
| RS1602226867 |
PDHA1
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602227631 |
PDHA1
|
Health Risk |
Pathogenic |
— |
| RS1602227643 |
PDHA1
|
Health Risk |
Pathogenic |
— |
| RS1602227679 |
PDHA1
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602228017 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602228596 |
KDM5C
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS1602230515 |
CDKL5
|
Health Risk |
Pathogenic |
Angelman syndrome-like, Developmental and epileptic encephalopathy |
| RS1602231145 |
OPHN1
|
Health Risk |
Likely pathogenic |
— |
| RS1602231165 |
OPHN1
|
Health Risk |
Pathogenic |
— |
| RS1602231539 |
PDHA1
|
Health Risk |
Pathogenic |
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602231587 |
KDM5C
|
Health Risk |
Likely pathogenic |
Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type |
| RS1602232972 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602237187 |
KDM5C
|
Health Risk |
Pathogenic |
— |
| RS1602240890 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602240926 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602241023 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602244633 |
ALAS2
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS1602244774 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602244810 |
PHEX
|
Health Risk |
Likely pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602244836 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602247047 |
KDM5C
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1602251992 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS1602253296 |
ARHGEF9
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 8 |
| RS1602253464 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS1602253507 |
ARHGEF9
|
Health Risk |
Likely pathogenic |
— |
| RS1602253509 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type |
| RS1602253764 |
CCNB3
|
Health Risk |
Pathogenic |
Pregnancy loss, recurrent |
| RS1602255030 |
TANGO2
|
Health Risk |
Likely pathogenic |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| RS1602256663 |
IQSEC2
|
Health Risk |
Likely pathogenic |
— |
| RS1602257730 |
IQSEC2
|
Health Risk |
Pathogenic |
— |
| RS1602260263 |
IQSEC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, X-linked 1 |
| RS1602263431 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602264294 |
IQSEC2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 1 |
| RS1602268590 |
IQSEC2
|
Health Risk |
Likely pathogenic |
— |
| RS1602268620 |
IQSEC2
|
Health Risk |
Pathogenic |
— |
| RS1602269367 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602271643 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1602271715 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1602271718 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602272308 |
AR
|
Health Risk |
Pathogenic |
Androgen resistance syndrome, Kennedy disease |
| RS1602272697 |
AR
|
Health Risk |
Pathogenic |
Androgen resistance syndrome, Androgen resistance syndrome |
| RS1602272932 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602273769 |
PHEX
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602273900 |
PHEX
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602273945 |
PHEX
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602274251 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1602274746 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS1602274883 |
PHEX
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602274893 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602274929 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602274950 |
PHEX
|
Health Risk |
Pathogenic |
Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets |
| RS1602276088 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1602276166 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1602276233 |
AR
|
Health Risk |
Pathogenic/Likely pathogenic |
Androgen resistance syndrome, Kennedy disease |
| RS1602277471 |
IQSEC2
|
Health Risk |
Likely pathogenic |
Thyroid cancer, nonmedullary |
| RS1602277592 |
IQSEC2
|
Health Risk |
Pathogenic |
— |
| RS1602278831 |
AR
|
Health Risk |
Pathogenic |
Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome |
| RS1602279457 |
IQSEC2
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 1 |
| RS1602279488 |
AR
|
Health Risk |
Pathogenic |
Androgen resistance syndrome, Kennedy disease |
| RS1602280356 |
AR
|
Health Risk |
Pathogenic/Likely pathogenic |
Androgen resistance syndrome, Kennedy disease |
| RS1602280455 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602282692 |
CDKL5
|
Health Risk |
Likely pathogenic |
— |
| RS1602282699 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1602282705 |
CDKL5
|
Health Risk |
Pathogenic |
— |
| RS1602282739 |
IQSEC2
|
Health Risk |
Likely pathogenic |
— |
| RS1602283534 |
IQSEC2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 1 |