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GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 3, 2020
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:
RCV001263024.1

Allele description [Variation Report for GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3]

GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3

Genes:
  • HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
  • AKAP14:A-kinase anchoring protein 14 [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
  • DMRTC1B:DMRT like family C1B [Gene - HGNC]
  • DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
  • ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
  • ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
  • ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
  • FAM3A:FAM3 metabolism regulating signaling molecule A [Gene - OMIM - HGNC]
  • FRMPD3:FERM and PDZ domain containing 3 [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]
  • FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
  • GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
  • GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
  • GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
  • GPR50:G protein-coupled receptor 50 [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]
  • 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]
  • 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]
  • 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]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • KLF8:KLF transcription factor 8 [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]
  • 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]
  • MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
  • MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
  • MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
  • MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
  • MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
  • MPP1:MAGUK p55 scaffold protein 1 [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]
  • MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • PWWP3B:PWWP domain containing 3B [Gene - 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]
  • RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RBMXL3:RBMX like 3 [Gene - 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
  • STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
  • SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [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]
  • TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
  • TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
  • THOC2:THO complex subunit 2 [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]
  • 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]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
  • XIST:X inactive specific transcript [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]
  • 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]
  • AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
  • AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
  • AR:androgen receptor [Gene - OMIM - HGNC]
  • AMOT:angiomotin [Gene - OMIM - HGNC]
  • AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
  • ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
  • AVPR2:arginine vasopressin receptor 2 [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]
  • ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
  • BGN:biglycan [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [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]
  • 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 - 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]
  • 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]
  • CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
  • CHRDL1:chordin like 1 [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]
  • CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
  • CXorf66:chromosome X open reading frame 66 [Gene - 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]
  • CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
  • COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
  • COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
  • CUL4B:cullin 4B [Gene - OMIM - HGNC]
  • CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
  • CCNQ:cyclin Q [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]
  • 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]
  • DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
  • DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
  • DCX:doublecortin [Gene - OMIM - HGNC]
  • DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
  • DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
  • DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
  • DRP2:dystrophin related protein 2 [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]
  • LOC100509091:extracellular matrix protein 2-like [Gene]
  • FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
  • FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
  • FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
  • FAAH2:fatty acid amide hydrolase 2 [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]
  • 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]
  • 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]
  • GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [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]
  • HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
  • HCFC1:host cell factor C1 [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]
  • 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]
  • 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]
  • KLHL13:kelch like family member 13 [Gene - OMIM - 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]
  • 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]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • MED12:mediator complex subunit 12 [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]
  • MIR223:microRNA 223 [Gene - OMIM - HGNC]
  • MIR224:microRNA 224 [Gene - OMIM - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR448:microRNA 448 [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]
  • MID2:midline 2 [Gene - OMIM - HGNC]
  • MSN:moesin [Gene - OMIM - HGNC]
  • MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
  • MOSPD1:motile sperm domain containing 1 [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]
  • NONO:non-POU domain containing octamer binding [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]
  • 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]
  • 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]
  • PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
  • PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [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]
  • PHKA1:phosphorylase kinase regulatory subunit alpha 1 [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]
  • PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - 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]
  • PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
  • PRR32:proline rich 32 [Gene - HGNC]
  • PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
  • PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
  • PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
  • PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
  • PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
  • P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
  • RENBP:renin binding protein [Gene - OMIM - HGNC]
  • RPA4:replication protein A4 [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
  • SOWAHD:sosondowah ankyrin repeat domain family member D [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]
  • 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 - HGNC]
  • STAG2:stromal antigen 2 [Gene - OMIM - HGNC]
  • SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
  • SYTL4:synaptotagmin like 4 [Gene - OMIM - 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]
  • 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]
  • TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
  • TMSB15A:thymosin beta 15A [Gene - OMIM - HGNC]
  • TMSB15B:thymosin beta 15B [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]
  • TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
  • TKTL1:transketolase like 1 [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]
  • TMLHE:trimethyllysine hydroxylase, epsilon [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]
  • USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
  • USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
  • UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
  • VMA21:vacuolar ATPase assembly factor VMA21 [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]
  • 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]
  • 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]
  • ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
  • ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
  • ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.21-q28
Genomic location:
ChrX: 55507789 - 155198481 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001441099HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
    no assertion criteria provided
    		Pathogenic
    (Sep 3, 2020)     		unknownresearch

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot providednot providednot provided1not providedresearch

    Details of each submission

    From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001441099.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyes1not providednot provided1not providednot providednot provided

    Last Updated: Mar 26, 2023