Single allele AND multiple conditions Detail (hg38) (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)

Information

Genome

Assembly	Position
hg19	chrX:152,692,926-155,234,584
hg38	chrX:153,427,468-156,004,919

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Damaging scores predicted by bioinformatics tools

Neutral Damaging

SEE MORE

Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-02-24	criteria provided, single submitter	immunodeficiency 47,immunodeficiency 33,Incontinentia pigmenti syndrome,ectodermal dysplasia and immunodeficiency 1	germline	Detail
Pathogenic	2022-02-24	criteria provided, single submitter	immunodeficiency 47,immunodeficiency 33,Incontinentia pigmenti syndrome,ectodermal dysplasia and immunodeficiency 1	germline	Detail
Pathogenic	2022-02-24	criteria provided, single submitter	immunodeficiency 47,immunodeficiency 33,Incontinentia pigmenti syndrome,ectodermal dysplasia and immunodeficiency 1	germline	Detail
Pathogenic	2022-02-24	criteria provided, single submitter	immunodeficiency 47,immunodeficiency 33,Incontinentia pigmenti syndrome,ectodermal dysplasia and immunodeficiency 1	germline	Detail
Pathogenic	2022-02-24	criteria provided, single submitter		germline	Detail