GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Mar 18, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000142337.3

Allele description [Variation Report for GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1]

GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1

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:AF4/FMR2 family member 2 [Gene - OMIM - HGNC]
  • ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
  • AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
  • ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
  • ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - 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 - HGNC]
  • ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
  • ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [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]
  • CMC4:C-X9-C motif containing 4 [Gene - 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 - HGNC]
  • CSAG2:CSAG family member 2 [Gene - HGNC]
  • CSAG3:CSAG family member 3 [Gene - HGNC]
  • DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
  • DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
  • DIAPH2-AS1:DIAPH2 antisense RNA 1 [Gene - OMIM - HGNC]
  • DANT1:DXZ4 associated non-coding transcript 1, proximal [Gene - OMIM - HGNC]
  • DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
  • ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
  • ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
  • FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
  • FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
  • FGF13-AS1:FGF13 antisense RNA 1 [Gene - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • FMR1:FMRP translational regulator 1 [Gene - OMIM - HGNC]
  • LOC108684022:FRAXA repeat instability region [Gene]
  • LOC109461475:FRAXE repeat instability region [Gene]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • FRMPD3-AS1:FRMPD3 antisense RNA 1 [Gene - HGNC]
  • FUNDC2:FUN14 domain containing 2 [Gene - 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]
  • LOC108281126:G6PD and IKBKG intron CAGE-defined low expression enhancer [Gene]
  • LOC111464987:GATA motif-containing MPRA enhancer 234 [Gene]
  • GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
  • GPC3-AS1:GPC3 antisense RNA 1 [Gene - 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 - HGNC]
  • H2AB2:H2A.B variant histone 2 [Gene - 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]
  • HCFC1-AS1:HCFC1 antisense RNA 1 [Gene - HGNC]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • LOC111365174:HNF1 motif-containing MPRA enhancer 3 [Gene]
  • LOC111589209:HNF4 motif-containing MPRA enhancer 232 [Gene]
  • HS6ST2-AS1:HS6ST2 antisense RNA 1 [Gene - HGNC]
  • LOC106050102:IDS recombination region [Gene]
  • LOC106050103:IDSP1 recombination region [Gene]
  • LOC107988022:IKBKG downstream recombination region [Gene]
  • LOC107988021:IKBKG recombination region [Gene]
  • LOC107988024:IKBKGP1 recombination region [Gene]
  • LOC107988025:IKBKGP1 upstream recombination region [Gene]
  • INTS6L-AS1:INTS6L antisense RNA 1 [Gene - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
  • L1CAM:L1 cell adhesion molecule [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]
  • MAGEA5:MAGE family member A5 [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]
  • MAGEA10-MAGEA5:MAGEA10-MAGEA5 readthrough [Gene]
  • MAGEA4-AS1:MAGEA4 antisense RNA 1 [Gene - HGNC]
  • MAGEA8-AS1:MAGEA8 antisense RNA 1 [Gene - 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]
  • MIR503HG:MIR503 host gene [Gene - HGNC]
  • MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
  • MORF4L2-AS1:MORF4L2 antisense RNA 1 [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]
  • NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
  • LOC111365170:NFE2L2 motif-containing MPRA enhancer 190/191 [Gene]
  • LOC111429618:NFE2L2 motif-containing MPRA enhancer 215 [Gene]
  • NKAP:NFKB activating protein [Gene - OMIM - HGNC]
  • NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
  • NRK:Nik related kinase [Gene - OMIM - HGNC]
  • OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
  • P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
  • PABPC5-AS1:PABPC5 antisense RNA 1 [Gene - HGNC]
  • PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
  • PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
  • PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
  • PIH1D3:PIH1 domain containing 3 [Gene - OMIM - HGNC]
  • PLS3-AS1:PLS3 antisense RNA 1 [Gene - 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]
  • PNMA6F:PNMA family member 6F [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 - OMIM - HGNC]
  • RAB40AL:RAB40A like [Gene - OMIM - HGNC]
  • RAB40A:RAB40A, member RAS oncogene family [Gene - HGNC]
  • RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAP2C-AS1:RAP2C antisense RNA 1 [Gene - HGNC]
  • RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RBMXL3:RBMX like 3 [Gene - HGNC]
  • RHOXF1-AS1:RHOXF1 antisense RNA 1 [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]
  • SLC25A5-AS1:SLC25A5 antisense RNA 1 [Gene - HGNC]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
  • SMIM10L2B-AS1:SMIM10L2B antisense RNA 1 [Gene - HGNC]
  • LOC108281134:SOX3 promoter region [Gene]
  • 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 - 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]
  • SPANXA2-OT1:SPANXA2 overlapping transcript 1 [Gene - HGNC]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
  • SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
  • LOC113845788:Sharpr-MPRA regulatory region 11856 [Gene]
  • LOC113845785:Sharpr-MPRA regulatory region 12400 [Gene]
  • LOC113875015:Sharpr-MPRA regulatory region 12525 [Gene]
  • LOC113875012:Sharpr-MPRA regulatory region 13624 [Gene]
  • LOC113875008:Sharpr-MPRA regulatory region 13828 [Gene]
  • LOC113875009:Sharpr-MPRA regulatory region 14523 [Gene]
  • LOC113875011:Sharpr-MPRA regulatory region 4069 [Gene]
  • LOC113845786:Sharpr-MPRA regulatory region 4463 [Gene]
  • LOC113875007:Sharpr-MPRA regulatory region 4549 [Gene]
  • LOC113845780:Sharpr-MPRA regulatory region 49 [Gene]
  • LOC113845787:Sharpr-MPRA regulatory region 5043 [Gene]
  • LOC113875010:Sharpr-MPRA regulatory region 5272 [Gene]
  • LOC113845781:Sharpr-MPRA regulatory region 5968 [Gene]
  • LOC113875016:Sharpr-MPRA regulatory region 7862 [Gene]
  • LOC113845782:Sharpr-MPRA regulatory region 8383 [Gene]
  • LOC114022705:Sharpr-MPRA regulatory region 9216 [Gene]
  • LOC113875014:Sharpr-MPRA regulatory region 9358 [Gene]
  • TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
  • TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
  • TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
  • LOC109286564:TBX22 P0 promoter [Gene]
  • TEX13C:TEX13 family member C [Gene - HGNC]
  • TEX13D:TEX13 family member D [Gene - HGNC]
  • TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
  • THOC2:THO complex 2 [Gene - OMIM - HGNC]
  • TMLHE-AS1:TMLHE antisense RNA 1 [Gene - HGNC]
  • TMSB15B-AS1:TMSB15B antisense RNA 1 [Gene - HGNC]
  • TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
  • TSC22D3:TSC22 domain family member 3 [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]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • LOC110121198:VISTA enhancer hs1745 [Gene]
  • LOC110121199:VISTA enhancer hs1746 [Gene]
  • LOC110120679:VISTA enhancer hs426 [Gene]
  • LOC110120680:VISTA enhancer hs427 [Gene]
  • LOC110120711:VISTA enhancer hs582 [Gene]
  • LOC110120737:VISTA enhancer hs667 [Gene]
  • LOC110120761:VISTA enhancer hs755 [Gene]
  • WDR44:WD repeat domain 44 [Gene - HGNC]
  • XACT:X active 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]
  • LOC107988033:Xq28 distal FLNA-EMD recombination region [Gene]
  • LOC107988032:Xq28 proximal FLNA-EMD recombination region [Gene]
  • 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]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - HGNC]
  • AMOT:angiomotin [Gene - OMIM - HGNC]
  • AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - OMIM - 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 - HGNC]
  • ARMCX5:armadillo repeat containing X-linked 5 [Gene - HGNC]
  • ARMCX6:armadillo repeat containing X-linked 6 [Gene - HGNC]
  • ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
  • BHLHB9:basic helix-loop-helix family member b9 [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]
  • CT45A10:cancer/testis antigen family 45 member A10 [Gene - 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]
  • CT45A7:cancer/testis antigen family 45 member A7 [Gene - HGNC]
  • CT45A8:cancer/testis antigen family 45 member A8 [Gene - HGNC]
  • CT45A9:cancer/testis antigen family 45 member A9 [Gene - 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]
  • CETN2:centrin 2 [Gene - OMIM - HGNC]
  • CENPI:centromere protein I [Gene - OMIM - HGNC]
  • CDR1:cerebellar degeneration related protein 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]
  • LOC389895:chromosome 16 open reading frame 72-like [Gene]
  • CXorf40A:chromosome X open reading frame 40A [Gene - OMIM - HGNC]
  • CXorf40B:chromosome X open reading frame 40B [Gene - HGNC]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
  • CXorf56:chromosome X open reading frame 56 [Gene - OMIM - 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]
  • CYSLTR1:cysteinyl leukotriene receptor 1 [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]
  • DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
  • DCX:doublecortin [Gene - OMIM - HGNC]
  • DUSP9:dual specificity phosphatase 9 [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]
  • ETDA:embryonic testis differentiation homolog A [Gene - HGNC]
  • ETDB:embryonic testis differentiation homolog B [Gene - HGNC]
  • ETDC:embryonic testis differentiation homolog C [Gene - HGNC]
  • EMD:emerin [Gene - OMIM - HGNC]
  • LOC100509091:extracellular matrix protein 2-like [Gene]
  • FAM122B:family with sequence similarity 122B [Gene - HGNC]
  • FAM122C:family with sequence similarity 122C [Gene - HGNC]
  • FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
  • FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
  • FAM223A:family with sequence similarity 223 member A [Gene - HGNC]
  • FAM223B:family with sequence similarity 223 member B [Gene - HGNC]
  • FAM3A:family with sequence similarity 3 member A [Gene - OMIM - HGNC]
  • FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
  • FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
  • FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
  • FLNA:filamin A [Gene - OMIM - HGNC]
  • FIRRE:firre intergenic repeating RNA element [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • GLA:galactosidase alpha [Gene - OMIM - HGNC]
  • GABRA3:gamma-aminobutyric acid type A receptor alpha3 subunit [Gene - OMIM - HGNC]
  • GABRE:gamma-aminobutyric acid type A receptor epsilon subunit [Gene - OMIM - HGNC]
  • GABRQ:gamma-aminobutyric acid type A receptor theta subunit [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]
  • 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]
  • HSFX3:heat shock transcription factor family, X-linked member 3 [Gene - HGNC]
  • HSFX4:heat shock transcription factor family, X-linked member 4 [Gene - HGNC]
  • HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [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]
  • HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
  • HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
  • IDS:iduronate 2-sulfatase [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]
  • LOC106146143:int1h-1 recombination region [Gene]
  • LOC106146144:int1h-2 recombination region [Gene]
  • LOC106146150:int22h-1 recombination region [Gene]
  • LOC106146151:int22h-2 recombination region [Gene]
  • LOC106146152:int22h-3 recombination region [Gene]
  • ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
  • INTS6L:integrator complex subunit 6 like [Gene - 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]
  • IL9R:interleukin 9 receptor [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]
  • LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
  • LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
  • LINC01201:long intergenic non-protein coding RNA 1201 [Gene - HGNC]
  • LINC01285:long intergenic non-protein coding RNA 1285 [Gene - HGNC]
  • LINC01402:long intergenic non-protein coding RNA 1402 [Gene - HGNC]
  • LINC02243:long intergenic non-protein coding RNA 2243 [Gene - HGNC]
  • LINC02589:long intergenic non-protein coding RNA 2589 [Gene - HGNC]
  • LINC00629:long intergenic non-protein coding RNA 629 [Gene - HGNC]
  • LINC00630:long intergenic non-protein coding RNA 630 [Gene - HGNC]
  • LINC00632:long intergenic non-protein coding RNA 632 [Gene - HGNC]
  • LINC00850:long intergenic non-protein coding RNA 850 [Gene - OMIM - HGNC]
  • LINC00889:long intergenic non-protein coding RNA 889 [Gene - HGNC]
  • LINC00892:long intergenic non-protein coding RNA 892 [Gene - HGNC]
  • LINC00893:long intergenic non-protein coding RNA 893 [Gene - HGNC]
  • LINC00894:long intergenic non-protein coding RNA 894 [Gene - HGNC]
  • LCA10:lung carcinoma-associated 10 [Gene]
  • LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
  • LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • MMGT1:membrane magnesium transporter 1 [Gene - HGNC]
  • MPP1:membrane palmitoylated protein 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]
  • MIR1184-1:microRNA 1184-1 [Gene - HGNC]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR1184-3:microRNA 1184-3 [Gene - HGNC]
  • MIR12129:microRNA 12129 [Gene - HGNC]
  • MIR1264:microRNA 1264 [Gene - HGNC]
  • MIR1277:microRNA 1277 [Gene - HGNC]
  • MIR1298:microRNA 1298 [Gene - HGNC]
  • MIR1321:microRNA 1321 [Gene - HGNC]
  • MIR18B:microRNA 18b [Gene - HGNC]
  • MIR1911:microRNA 1911 [Gene - HGNC]
  • MIR1912:microRNA 1912 [Gene - HGNC]
  • MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
  • MIR20B:microRNA 20b [Gene - OMIM - HGNC]
  • MIR2114:microRNA 2114 [Gene - HGNC]
  • MIR224:microRNA 224 [Gene - OMIM - HGNC]
  • MIR3202-1:microRNA 3202-1 [Gene - HGNC]
  • MIR3202-2:microRNA 3202-2 [Gene - HGNC]
  • MIR320D2:microRNA 320d-2 [Gene - HGNC]
  • MIR361:microRNA 361 [Gene - HGNC]
  • MIR363:microRNA 363 [Gene - HGNC]
  • MIR3672:microRNA 3672 [Gene - HGNC]
  • MIR3978:microRNA 3978 [Gene - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR4328:microRNA 4328 [Gene - HGNC]
  • MIR4329:microRNA 4329 [Gene - HGNC]
  • MIR4330:microRNA 4330 [Gene - HGNC]
  • MIR448:microRNA 448 [Gene - OMIM - HGNC]
  • MIR450A1:microRNA 450a-1 [Gene - HGNC]
  • MIR450A2:microRNA 450a-2 [Gene - HGNC]
  • MIR450B:microRNA 450b [Gene - HGNC]
  • MIR452:microRNA 452 [Gene - HGNC]
  • MIR503:microRNA 503 [Gene - OMIM - HGNC]
  • MIR504:microRNA 504 [Gene - HGNC]
  • MIR505:microRNA 505 [Gene - HGNC]
  • MIR506:microRNA 506 [Gene - OMIM - HGNC]
  • MIR507:microRNA 507 [Gene - HGNC]
  • MIR508:microRNA 508 [Gene - OMIM - HGNC]
  • MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
  • MIR509-2:microRNA 509-2 [Gene - HGNC]
  • MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
  • MIR510:microRNA 510 [Gene - OMIM - HGNC]
  • MIR513A1:microRNA 513a-1 [Gene - HGNC]
  • MIR513A2:microRNA 513a-2 [Gene - HGNC]
  • MIR513B:microRNA 513b [Gene - HGNC]
  • MIR513C:microRNA 513c [Gene - HGNC]
  • MIR514A1:microRNA 514a-1 [Gene - HGNC]
  • MIR514A2:microRNA 514a-2 [Gene - HGNC]
  • MIR514A3:microRNA 514a-3 [Gene - HGNC]
  • MIR514B:microRNA 514b [Gene - HGNC]
  • MIR542:microRNA 542 [Gene - HGNC]
  • MIR548AN:microRNA 548an [Gene - HGNC]
  • MIR548I4:microRNA 548i-4 [Gene - HGNC]
  • MIR548M:microRNA 548m [Gene - HGNC]
  • MIR6087:microRNA 6087 [Gene - HGNC]
  • MIR652:microRNA 652 [Gene - HGNC]
  • MIR664B:microRNA 664b [Gene - HGNC]
  • MIR6858:microRNA 6858 [Gene - HGNC]
  • MIR718:microRNA 718 [Gene - OMIM - HGNC]
  • MIR764:microRNA 764 [Gene - HGNC]
  • MIR766:microRNA 766 [Gene - HGNC]
  • MIR767:microRNA 767 [Gene - HGNC]
  • MIR888:microRNA 888 [Gene - HGNC]
  • MIR890:microRNA 890 [Gene - HGNC]
  • MIR891A:microRNA 891a [Gene - HGNC]
  • MIR891B:microRNA 891b [Gene - HGNC]
  • MIR892A:microRNA 892a [Gene - HGNC]
  • MIR892B:microRNA 892b [Gene - HGNC]
  • MIR892C:microRNA 892c [Gene - HGNC]
  • MIR92A2:microRNA 92a-2 [Gene - HGNC]
  • MIR934:microRNA 934 [Gene - HGNC]
  • MID2:midline 2 [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]
  • 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]
  • NCBP2L:nuclear cap binding protein subunit 2 like [Gene - HGNC]
  • NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
  • NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
  • NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
  • OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
  • OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
  • OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
  • OPN1MW3:opsin 1, medium wave sensitive 3 [Gene - HGNC]
  • OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
  • OPSIN-LCR:opsin locus control region [Gene - OMIM]
  • LOC107048984:origin of replication in 5' region of AFF2/FMR2 [Gene]
  • LOC107032825:origin of replication in 5' region of FMR1 [Gene]
  • LOC107181288:origin of replication in promoter of G6PD [Gene]
  • LOC107032760:origin of replication in promoter/intron 1 of HPRT1 [Gene]
  • LOC107048982:origin of replication upstream of FMR1 [Gene]
  • PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
  • PRPS1:phosphoribosyl pyrophosphate synthetase 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]
  • PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
  • KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [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]
  • 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]
  • 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]
  • 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]
  • RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
  • SEPTIN6:septin 6 [Gene - OMIM - HGNC]
  • SERTM2:serine rich and transmembrane domain containing 2 [Gene - 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]
  • SMIM10L2A:small integral membrane protein 10 like 2A [Gene - HGNC]
  • SMIM10L2B:small integral membrane protein 10 like 2B [Gene - HGNC]
  • SMIM10:small integral membrane protein 10 [Gene - HGNC]
  • SMIM9:small integral membrane protein 9 [Gene - HGNC]
  • SNORD61:small nucleolar RNA, C/D box 61 [Gene - HGNC]
  • SNORD96B:small nucleolar RNA, C/D box 96B [Gene - HGNC]
  • SNORA35:small nucleolar RNA, H/ACA box 35 [Gene - HGNC]
  • SNORA35B:small nucleolar RNA, H/ACA box 35B [Gene - HGNC]
  • SNORA36A:small nucleolar RNA, H/ACA box 36A [Gene - HGNC]
  • SNORA56:small nucleolar RNA, H/ACA box 56 [Gene - HGNC]
  • SNORA69:small nucleolar RNA, H/ACA box 69 [Gene - HGNC]
  • SNORA70:small nucleolar RNA, H/ACA box 70 [Gene - HGNC]
  • SLC10A3:solute carrier family 10 member 3 [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]
  • SLC9A6:solute carrier family 9 member A6 [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]
  • SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - 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]
  • TCP11X1:t-complex 11 family, X-linked 1 [Gene - HGNC]
  • TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
  • TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
  • TAZ:tafazzin [Gene - OMIM - HGNC]
  • TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
  • TNMD:tenomodulin [Gene - OMIM - HGNC]
  • TENT5D:terminal nucleotidyltransferase 5D [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]
  • TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
  • TMSB15A:thymosin beta 15a [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 - 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]
  • LOC100126447:uncharacterized LOC100126447 [Gene]
  • LOC100506790:uncharacterized LOC100506790 [Gene]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • LOC101928128:uncharacterized LOC101928128 [Gene]
  • LOC101928335:uncharacterized LOC101928335 [Gene]
  • LOC101928336:uncharacterized LOC101928336 [Gene]
  • LOC101928358:uncharacterized LOC101928358 [Gene]
  • LOC101928402:uncharacterized LOC101928402 [Gene]
  • LOC101928437:uncharacterized LOC101928437 [Gene]
  • LOC101928495:uncharacterized LOC101928495 [Gene]
  • LOC105373311:uncharacterized LOC105373311 [Gene]
  • LOC105373338:uncharacterized LOC105373338 [Gene]
  • LOC105373378:uncharacterized LOC105373378 [Gene]
  • LOC105373383:uncharacterized LOC105373383 [Gene]
  • LOC105377213:uncharacterized LOC105377213 [Gene]
  • LOC286437:uncharacterized LOC286437 [Gene]
  • LOC645188:uncharacterized LOC645188 [Gene]
  • LOC728660:uncharacterized LOC728660 [Gene]
  • CH17-340M24.3:uncharacterized protein BC009467 [Gene]
  • VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
  • ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
  • ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
  • ZDHHC9:zinc finger DHHC-type containing 9 [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 loss
Cytogenetic location:
Xq21.1-28
Genomic location:
Preferred name:
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1
HGVS:
  • NC_000023.11:g.(?_78187188)_(156004066_?)del
  • NC_000023.10:g.(?_77442685)_(155233731_?)del
Links:
dbVar: nssv3395448; dbVar: nsv996245
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000183675ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Mar 18, 2014)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000183675

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000183675

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, SCV000183675.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 10, 2019

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