Annotation Detail
Information
- Associated Genes
- ABCD1 ARHGAP4 ATP2B3 ATP6AP1 AVPR2 BGN CLIC2 CTAG1B TEX28 DKC1 DNASE1L1 DUSP9 EMD F8 FLNA G6PD OPN1MW GDI1 HCFC1 IDH3G IL9R IRAK1 L1CAM MECP2 MPP1 MTCP1 PLXNB3 OPN1LW RENBP RPL10 SLC6A8 SSR4 VAMP7 TAFAZZIN VBP1 NAA10 F8A1 UBL4A TMEM187 LAGE3 SLC10A3 TKTL1 IKBKG FAM50A BCAP31 SPRY3 TREX2 SRPK3 SNORA70 CTAG2 TMLHE PLXNA3 HAUS7 PDZD4 FAM3A FUNDC2 BRCC3 H2AB3 CCNQ RAB39B GAB3 PNCK ATP6AP1-DT CTAG1A FAM223B H2AB2 H2AB1 F8A2 F8A3 SNORA36A SNORA56 OPN1MW2 SMIM9 FAM223A CMC4 MIR1184-1 MIR718 MIR3202-2 MIR1184-3 MIR1184-2 MIR3202-1 TMLHE-AS1 MIR664B HCFC1-AS1 L1CAM-AS1 OPN1MW3 LOC101927830 MIR6858 PLXNB3-AS1 LOC105373383 LOC106146143 LOC106146144 LOC106146150 LOC106146151 LOC106146152 LOC107181288 LOC107522039 OPSIN-LCR LOC107838685 LOC107988021 LOC107988022 LOC107988024 LOC107988025 LOC107988032 LOC107988033 LOC108281126 LOC111365170 LOC111589209 LOC113875014 LOC113875015 LOC113875016 LOC116309161 LOC116309162 LOC121627985 LOC121627986 LOC121853071 LOC121853072 LOC125467793 LOC125467794 LOC125467795 LOC126863349 LOC129929050 LOC129929051 LOC129929052 LOC130068821 LOC130068822 LOC130068823 LOC130068824 LOC130068825 LOC130068826 LOC130068827 LOC130068828 LOC130068829 LOC130068830 LOC130068831 LOC130068832 LOC130068833 LOC130068834 LOC130068835 LOC130068836 LOC130068837 LOC130068838 LOC130068839 LOC130068840 LOC130068841 LOC130068842 LOC130068843 LOC130068844 LOC130068845 LOC130068846 LOC130068847 LOC130068848 LOC130068849 LOC130068850 LOC130068851 LOC130068852 LOC130068853 LOC130068854 LOC130068855 LOC130068856 LOC130068857 LOC130068858 LOC130068859 LOC130068860 LOC130068861 LOC130068862 LOC130068863 LOC130068864 LOC130068865 LOC130068866 LOC130068867 LOC130068868 LOC130068869 LOC130068870 LOC130068871 LOC130068872 LOC130068873 LOC130068874 LOC130068875 LOC130068876 LOC130068877 LOC130068878 LOC130068879 LOC130068880 LOC130068881 LOC130068882 LOC130068883 LOC130068884 LOC130068885 LOC130068886 LOC130068887 LOC130068888 LOC130068889 LOC130068890 LOC130068891 LOC130068892 LOC130068893 LOC130068894 LOC130068895 LOC130068896 LOC130068897 LOC130068898
- Associated Variants
- Single allele AND multiple conditions
- Associated Disease
- immunodeficiency 47 immunodeficiency 33 Incontinentia pigmenti syndrome ectodermal dysplasia and immunodeficiency 1
- Source Database
- ClinVar
- Description
- Single allele AND multiple conditions
- ClinVar Allele ID
- 1676682
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002247742
- ClinVar Disease
- Immunodeficiency 47
- ClinVar Disease
- Immunodeficiency 33
- ClinVar Disease
- Incontinentia pigmenti syndrome
- ClinVar Disease
- Ectodermal dysplasia and immunodeficiency 1
- Observed Origin Sample
- germline
Drugs