GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000846039.2

Allele description [Variation Report for GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4]

GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4

Genes:

ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - HGNC]
ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
BEND2:BEN domain containing 2 [Gene - HGNC]
BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
CMC4:C-X9-C motif containing 4 [Gene - OMIM - HGNC]
C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
CD40LG:CD40 ligand [Gene - OMIM - HGNC]
CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
CPXCR1:CPX chromosome region candidate 1 [Gene - OMIM - HGNC]
CSAG3:CSAG family member 3 [Gene - OMIM - HGNC]
CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
DDX53:DEAD-box helicase 53 [Gene - OMIM - HGNC]
DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
DMRTC1B:DMRT like family C1B [Gene - HGNC]
POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
FANCB:FA complementation group B [Gene - OMIM - HGNC]
FAM3A:FAM3 metabolism regulating signaling molecule A [Gene - OMIM - HGNC]
FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
FMR1NB:FMR1 neighbor [Gene - HGNC]
FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
GAGE12B:G antigen 12B [Gene - HGNC]
GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
GAGE13:G antigen 13 [Gene - OMIM - HGNC]
GAGE1:G antigen 1 [Gene - OMIM - HGNC]
GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
GAGE8:G antigen 8 [Gene - OMIM - HGNC]
GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
GPRASP3:G protein-coupled receptor associated sorting protein family member 3 [Gene - OMIM - HGNC]
GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
H2AB1:H2A.B variant histone 1 [Gene - OMIM - HGNC]
H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
H2AP:H2A.P histone [Gene - HGNC]
H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
H2BW2:H2B.W histone 2 [Gene - HGNC]
HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
LANCL3:LanC like family member 3 [Gene - HGNC]
MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
MAGEA12:MAGE family member A12 [Gene - OMIM - HGNC]
MAGEA1:MAGE family member A1 [Gene - OMIM - HGNC]
MAGEA2:MAGE family member A2 [Gene - OMIM - HGNC]
MAGEA2B:MAGE family member A2B [Gene - OMIM - HGNC]
MAGEA3:MAGE family member A3 [Gene - OMIM - HGNC]
MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
MAGEB18:MAGE family member B18 [Gene - OMIM - HGNC]
MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
MAGIX:MAGI family member, X-linked [Gene - HGNC]
MPP1:MAGUK p55 scaffold protein 1 [Gene - OMIM - HGNC]
MAP7D2:MAP7 domain containing 2 [Gene - OMIM - HGNC]
MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
NKAP:NFKB activating protein [Gene - OMIM - HGNC]
NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
NHSL2:NHS like 2 [Gene - OMIM - HGNC]
NRK:Nik related kinase [Gene - OMIM - HGNC]
OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
PABIR2:PABIR family member 2 [Gene - HGNC]
PABIR3:PABIR family member 3 [Gene - HGNC]
PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
PAGE2B:PAGE family member 2B [Gene - HGNC]
PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
PNMA3:PNMA family member 3 [Gene - OMIM - HGNC]
PNMA5:PNMA family member 5 [Gene - OMIM - HGNC]
PNMA6A:PNMA family member 6A [Gene - OMIM - HGNC]
PNMA6E:PNMA family member 6E [Gene - HGNC]
POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
PWWP3B:PWWP domain containing 3B [Gene - HGNC]
PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - HGNC]
RAB40AL:RAB40A like [Gene - OMIM - HGNC]
RAB40A:RAB40A, member RAS oncogene family [Gene - OMIM - HGNC]
RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
RBMXL3:RBMX like 3 [Gene - HGNC]
RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
RBM41:RNA binding motif protein 41 [Gene - HGNC]
RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
SH3BGRL:SH3 domain binding glutamate rich protein like [Gene - OMIM - HGNC]
SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
SPANXC:SPANX family member C [Gene - OMIM - HGNC]
SPANXD:SPANX family member D [Gene - OMIM - HGNC]
SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
SSX1:SSX family member 1 [Gene - OMIM - HGNC]
SSX2:SSX family member 2 [Gene - OMIM - HGNC]
SSX2B:SSX family member 2B [Gene - HGNC]
SSX3:SSX family member 3 [Gene - OMIM - HGNC]
SSX4:SSX family member 4 [Gene - OMIM - HGNC]
SSX4B:SSX family member 4B [Gene - HGNC]
SSX5:SSX family member 5 [Gene - OMIM - HGNC]
SSX7:SSX family member 7 [Gene - OMIM - HGNC]
STAG2:STAG2 cohesin complex component [Gene - OMIM - HGNC]
STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
VCF2:VCP nuclear cofactor family member 2 [Gene - HGNC]
VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
WWC3:WWC family member 3 [Gene - OMIM - HGNC]
XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
XIST:X inactive specific transcript [Gene - OMIM - HGNC]
XK:X-linked Kx blood group antigen, Kell and VPS13A binding protein [Gene - OMIM - HGNC]
XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
XKRX:XK related X-linked [Gene - OMIM - HGNC]
XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
YY2:YY2 transcription factor [Gene - OMIM - HGNC]
YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
AR:androgen receptor [Gene - OMIM - HGNC]
AMOT:angiomotin [Gene - OMIM - HGNC]
AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
ANOS1:anosmin 1 [Gene - OMIM - HGNC]
APLN:apelin [Gene - OMIM - HGNC]
APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
APOO:apolipoprotein O [Gene - OMIM - HGNC]
AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
ARX:aristaless related homeobox [Gene - OMIM - HGNC]
ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
ARMCX5:armadillo repeat containing X-linked 5 [Gene - OMIM - HGNC]
ARMCX6:armadillo repeat containing X-linked 6 [Gene - OMIM - HGNC]
ARR3:arrestin 3 [Gene - OMIM - HGNC]
ARSD:arylsulfatase D [Gene - OMIM - HGNC]
ARSF:arylsulfatase F [Gene - OMIM - HGNC]
ARSL:arylsulfatase L [Gene - OMIM - HGNC]
ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
BGN:biglycan [Gene - OMIM - HGNC]
BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
CAPN6:calpain 6 [Gene - OMIM - HGNC]
CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
CT55:cancer/testis antigen 55 [Gene - OMIM - HGNC]
CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
CETN2:centrin 2 [Gene - OMIM - HGNC]
CENPI:centromere protein I [Gene - OMIM - HGNC]
CDR1:cerebellar degeneration related 1 [Gene - OMIM - HGNC]
CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
CXorf38:chromosome X open reading frame 38 [Gene - OMIM - HGNC]
CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
CFAP47:cilia and flagella associated protein 47 [Gene - OMIM - HGNC]
CLDN2:claudin 2 [Gene - OMIM - HGNC]
CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
F9:coagulation factor IX [Gene - OMIM - HGNC]
F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
F8:coagulation factor VIII [Gene - OMIM - HGNC]
CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
CFP:complement factor properdin [Gene - OMIM - HGNC]
CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
CUL4B:cullin 4B [Gene - OMIM - HGNC]
CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
CCNB3:cyclin B3 [Gene - OMIM - HGNC]
CCNQ:cyclin Q [Gene - OMIM - HGNC]
CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
CYLC1:cylicin 1 [Gene - OMIM - HGNC]
CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
DNASE1L1:deoxyribonuclease 1 like 1 [Gene - OMIM - HGNC]
DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
DCX:doublecortin [Gene - OMIM - HGNC]
DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
DYNLT3:dynein light chain Tctex-type 3 [Gene - OMIM - HGNC]
DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
DMD:dystrophin [Gene - OMIM - HGNC]
ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
EDA:ectodysplasin A [Gene - OMIM - HGNC]
EMD:emerin [Gene - OMIM - HGNC]
EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
EFNB1:ephrin B1 [Gene - OMIM - HGNC]
EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
FAM120C:family with sequence similarity 120 member C [Gene - OMIM - HGNC]
FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
FAM47C:family with sequence similarity 47 member C [Gene - OMIM - HGNC]
FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
FLNA:filamin A [Gene - OMIM - HGNC]
FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
GABRE:gamma-aminobutyric acid type A receptor subunit epsilon [Gene - OMIM - HGNC]
GABRQ:gamma-aminobutyric acid type A receptor subunit theta [Gene - OMIM - HGNC]
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
GK:glycerol kinase [Gene - OMIM - HGNC]
GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
GYG2:glycogenin 2 [Gene - OMIM - HGNC]
GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
GLOD5:glyoxalase domain containing 5 [Gene - OMIM - HGNC]
GPC3:glypican 3 [Gene - OMIM - HGNC]
GPC4:glypican 4 [Gene - OMIM - HGNC]
GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
HEPH:hephaestin [Gene - OMIM - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
HDX:highly divergent homeobox [Gene - OMIM - HGNC]
HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
INE1:inactivation escape 1 [Gene - OMIM - HGNC]
INE2:inactivation escape 2 [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
INTS6L:integrator complex subunit 6 like [Gene - HGNC]
ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
IL1RAPL2:interleukin 1 receptor accessory protein like 2 [Gene - OMIM - HGNC]
IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
KLHL34:kelch like family member 34 [Gene - HGNC]
KLHL4:kelch like family member 4 [Gene - OMIM - HGNC]
KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
MIR106A:microRNA 106a [Gene - OMIM - HGNC]
MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
MIR221:microRNA 221 [Gene - OMIM - HGNC]
MIR222:microRNA 222 [Gene - OMIM - HGNC]
MIR223:microRNA 223 [Gene - OMIM - HGNC]
MIR224:microRNA 224 [Gene - OMIM - HGNC]
MIR424:microRNA 424 [Gene - OMIM - HGNC]
MIR448:microRNA 448 [Gene - OMIM - HGNC]
MIR502:microRNA 502 [Gene - OMIM - HGNC]
MIR503:microRNA 503 [Gene - OMIM - HGNC]
MIR506:microRNA 506 [Gene - OMIM - HGNC]
MIR508:microRNA 508 [Gene - OMIM - HGNC]
MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
MIR510:microRNA 510 [Gene - OMIM - HGNC]
MIR532:microRNA 532 [Gene - OMIM - HGNC]
MIR98:microRNA 98 [Gene - OMIM - HGNC]
MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
MID1:midline 1 [Gene - OMIM - HGNC]
MID2:midline 2 [Gene - OMIM - HGNC]
MPC1L:mitochondrial pyruvate carrier 1 like [Gene - OMIM - HGNC]
MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
MSN:moesin [Gene - OMIM - HGNC]
MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
MTM1:myotubularin 1 [Gene - OMIM - HGNC]
MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
MTMR8:myotubularin related protein 8 [Gene - OMIM - HGNC]
NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
NYX:nyctalopin [Gene - OMIM - HGNC]
OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
PCYT1B:phosphate cytidylyltransferase 1B, choline [Gene - OMIM - HGNC]
PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
PIR:pirin [Gene - OMIM - HGNC]
PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
PLS3:plastin 3 [Gene - OMIM - HGNC]
PLXNA3:plexin A3 [Gene - OMIM - HGNC]
PLXNB3:plexin B3 [Gene - OMIM - HGNC]
PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
PRR32:proline rich 32 [Gene - HGNC]
PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - OMIM - HGNC]
PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
RGN:regucalcin [Gene - OMIM - HGNC]
RENBP:renin binding protein [Gene - OMIM - HGNC]
RPA4:replication protein A4 [Gene - OMIM - HGNC]
RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]
RTL3:retrotransposon Gag like 3 [Gene - HGNC]
RTL4:retrotransposon Gag like 4 [Gene - HGNC]
RTL5:retrotransposon Gag like 5 [Gene - HGNC]
RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
RTL9:retrotransposon Gag like 9 [Gene - OMIM - HGNC]
RPL10:ribosomal protein L10 [Gene - OMIM - HGNC]
RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
RPS6KA6:ribosomal protein S6 kinase A6 [Gene - OMIM - HGNC]
RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
RNF128:ring finger protein 128 [Gene - OMIM - HGNC]
RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
SEPTIN6:septin 6 [Gene - OMIM - HGNC]
STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
SMIM10:small integral membrane protein 10 [Gene - HGNC]
SMIM9:small integral membrane protein 9 [Gene - HGNC]
SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - HGNC]
SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
SATL1:spermidine/spermine N1-acetyl transferase like 1 [Gene - HGNC]
SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
SMS:spermine synthase [Gene - OMIM - HGNC]
SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
SPIN3:spindlin family member 3 [Gene - HGNC]
SPIN4:spindlin family member 4 [Gene - OMIM - HGNC]
STS:steroid sulfatase [Gene - OMIM - HGNC]
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
SYAP1:synapse associated protein 1 [Gene - HGNC]
SYN1:synapsin I [Gene - OMIM - HGNC]
SYP:synaptophysin [Gene - OMIM - HGNC]
SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
SYTL5:synaptotagmin like 5 [Gene - HGNC]
TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
TXLNG:taxilin gamma [Gene - OMIM - HGNC]
TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
TNMD:tenomodulin [Gene - OMIM - HGNC]
TENT5D:terminal nucleotidyltransferase 5D [Gene - OMIM - HGNC]
TEX11:testis expressed 11 [Gene - OMIM - HGNC]
TEX13A:testis expressed 13A [Gene - OMIM - HGNC]
TEX13B:testis expressed 13B [Gene - OMIM - HGNC]
TEX28:testis expressed 28 [Gene - OMIM - HGNC]
TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
TMSB15A:thymosin beta 15A [Gene - OMIM - HGNC]
TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
TCEAL2:transcription elongation factor A like 2 [Gene - HGNC]
TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
TCEAL5:transcription elongation factor A like 5 [Gene - HGNC]
TCEAL6:transcription elongation factor A like 6 [Gene - HGNC]
TCEAL7:transcription elongation factor A like 7 [Gene - OMIM - HGNC]
TCEAL8:transcription elongation factor A like 8 [Gene - HGNC]
TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
TMEM164:transmembrane protein 164 [Gene - HGNC]
TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
TMEM255A:transmembrane protein 255A [Gene - HGNC]
TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
TMEM35A:transmembrane protein 35A [Gene - HGNC]
TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
TRO:trophinin [Gene - OMIM - HGNC]
UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
VCX:variable charge X-linked [Gene - OMIM - HGNC]
VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
ZC4H2:zinc finger C4H2-type containing [Gene - OMIM - HGNC]
ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM - HGNC]
ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
ZDHHC9:zinc finger DHHC-type palmitoyltransferase 9 [Gene - OMIM - HGNC]
ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
ZXDA:zinc finger X-linked duplicated A [Gene - OMIM - HGNC]
ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
ZMAT1:zinc finger matrin-type 1 [Gene - OMIM - HGNC]
ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
ZNF275:zinc finger protein 275 [Gene - HGNC]
ZNF280C:zinc finger protein 280C [Gene - HGNC]
ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]
ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xp22.33-q28

Genomic location:

ChrX: 168546 - 155233731 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000988160	Bionano Laboratories	no assertion criteria provided	Pathogenic (Apr 13, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000988160

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Apr 13, 2018)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Bionano Laboratories, SCV000988160.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	Buccal	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 AND not provided

Allele description [Variation Report for GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4]

GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Bionano Laboratories, SCV000988160.1