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GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2014
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:
RCV000512173.3

Allele description [Variation Report for GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3]

GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)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]
  • 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]
  • 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]
  • STAG2:STAG2 cohesin complex component [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 - 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]
  • 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]
  • 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]
  • 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]
  • SPIN4:spindlin family member 4 [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]
  • 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]
  • 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: 57415659 - 155233731 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3
HGVS:
    Links:
    dbVar: nssv13638940; dbVar: nsv2774379
    Observations:
    1

    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
    SCV000585322ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Oct 22, 2014)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000585322.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Sep 1, 2024