ClinVar

NC_000023.10:g.36649710_136649711del100000002insG

Genes:

• ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
• HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
• PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
• ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
• AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
• AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
• ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
• 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]
• ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
• ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
• ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
• ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
• BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
• BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
• BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
• CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
• C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
• CD40LG:CD40 ligand [Gene - OMIM - HGNC]
• CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
• CPXCR1:CPX chromosome region candidate 1 [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]
• DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - 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]
• EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
• EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
• ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
• ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
• ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
• ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
• FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
• FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
• FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
• FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
• FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
• FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
• GAGE12B:G antigen 12B [Gene - HGNC]
• GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
• GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
• GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
• GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
• GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
• GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
• GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
• GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
• GAGE13:G antigen 13 [Gene - OMIM - HGNC]
• GAGE1:G antigen 1 [Gene - OMIM - HGNC]
• GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
• GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
• GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
• GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
• GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
• GAGE8:G antigen 8 [Gene - OMIM - HGNC]
• GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
• GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
• GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
• GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
• GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
• GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
• GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
• GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
• GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
• GPRASP3:G protein-coupled receptor associated sorting protein family member 3 [Gene - OMIM - HGNC]
• GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
• GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
• GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
• GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
• H2AP:H2A.P histone [Gene - HGNC]
• H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
• H2BW2:H2B.W histone 2 [Gene - HGNC]
• HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
• HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
• IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
• JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
• KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
• KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
• KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
• LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
• LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
• LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
• LANCL3:LanC like family member 3 [Gene - HGNC]
• MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
• MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
• MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
• MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
• MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
• MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
• MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
• MAGIX:MAGI family member, X-linked [Gene - HGNC]
• MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
• MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
• MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
• MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
• MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
• NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
• NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
• NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
• NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
• NKAP:NFKB activating protein [Gene - OMIM - HGNC]
• NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
• 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]
• OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
• OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
• P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
• PABIR2:PABIR family member 2 [Gene - HGNC]
• PABIR3:PABIR family member 3 [Gene - HGNC]
• PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
• PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
• PAGE2B:PAGE family member 2B [Gene - HGNC]
• PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
• PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
• PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
• PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
• PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
• PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
• POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
• POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
• PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
• PWWP3B:PWWP domain containing 3B [Gene - HGNC]
• PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
• RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
• 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]
• RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
• RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
• RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
• RBM41:RNA binding motif protein 41 [Gene - HGNC]
• RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
• RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
• RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
• RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
• RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
• ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
• RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
• ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
• 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]
• SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
• SSX1:SSX family member 1 [Gene - OMIM - HGNC]
• SSX2:SSX family member 2 [Gene - OMIM - HGNC]
• SSX2B:SSX family member 2B [Gene - HGNC]
• SSX3:SSX family member 3 [Gene - OMIM - HGNC]
• SSX4:SSX family member 4 [Gene - OMIM - HGNC]
• SSX4B:SSX family member 4B [Gene - HGNC]
• SSX5:SSX family member 5 [Gene - OMIM - HGNC]
• SSX7:SSX family member 7 [Gene - OMIM - HGNC]
• STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
• SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
• SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
• STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
• TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
• TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
• TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
• TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
• TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
• TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
• TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
• THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
• TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
• TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
• TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
• TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
• TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
• TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
• UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
• UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
• VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
• VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
• WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
• WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
• WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
• WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
• WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
• XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
• XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
• XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
• XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
• XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
• XIST:X inactive specific transcript [Gene - OMIM - HGNC]
• XK:X-linked Kx blood group antigen, Kell and VPS13A binding protein [Gene - OMIM - HGNC]
• XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
• XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
• XKRX:XK related X-linked [Gene - OMIM - HGNC]
• YIPF6:Yip1 domain family member 6 [Gene - OMIM - 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]
• APEX2:apurinic/apyrimidinic endodeoxyribonuclease 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]
• BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
• BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
• BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
• BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
• BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
• BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
• BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
• BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
• CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
• CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
• CAPN6:calpain 6 [Gene - OMIM - HGNC]
• 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]
• CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
• CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
• CENPI:centromere protein I [Gene - OMIM - HGNC]
• CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
• CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
• CXorf38:chromosome X open reading frame 38 [Gene - HGNC]
• CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
• CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
• CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
• CLDN2:claudin 2 [Gene - OMIM - HGNC]
• CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
• CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
• CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
• CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
• COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
• COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
• CFP:complement factor properdin [Gene - OMIM - HGNC]
• CUL4B:cullin 4B [Gene - OMIM - HGNC]
• CCNB3:cyclin B3 [Gene - OMIM - HGNC]
• CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
• CYLC1:cylicin 1 [Gene - OMIM - HGNC]
• CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
• CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
• CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
• COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
• DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
• DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
• DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
• DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
• DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
• DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
• DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
• DCX:doublecortin [Gene - OMIM - HGNC]
• DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
• DNAAF6:dynein axonemal assembly factor 6 [Gene - OMIM - HGNC]
• DYNLT3:dynein light chain Tctex-type 3 [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]
• EFNB1:ephrin B1 [Gene - OMIM - HGNC]
• FAM104B:family with sequence similarity 104 member B [Gene - HGNC]
• FAM120C:family with sequence similarity 120C [Gene - OMIM - HGNC]
• FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
• FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
• FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
• FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
• FAM47C:family with sequence similarity 47 member C [Gene - OMIM - HGNC]
• FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
• FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
• FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
• FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
• FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
• FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
• GLA:galactosidase alpha [Gene - OMIM - HGNC]
• GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
• GCNA:germ cell nuclear acidic peptidase [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]
• GLOD5:glyoxalase domain containing 5 [Gene - HGNC]
• GPC3:glypican 3 [Gene - OMIM - HGNC]
• GPC4:glypican 4 [Gene - OMIM - HGNC]
• GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
• HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
• HEPH:hephaestin [Gene - OMIM - HGNC]
• HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
• HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
• HDX:highly divergent homeobox [Gene - OMIM - HGNC]
• HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
• HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
• HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
• HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
• IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
• IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
• INE1:inactivation escape 1 [Gene - OMIM - HGNC]
• IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
• ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
• INTS6L:integrator complex subunit 6 like [Gene - HGNC]
• ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
• ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
• IL1RAPL2:interleukin 1 receptor accessory protein like 2 [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]
• JADE3:jade family PHD finger 3 [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]
• LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
• KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
• KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
• LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
• LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
• MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
• MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
• MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
• MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
• MIR106A:microRNA 106a [Gene - OMIM - HGNC]
• MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
• MIR221:microRNA 221 [Gene - OMIM - HGNC]
• MIR222:microRNA 222 [Gene - OMIM - HGNC]
• MIR223:microRNA 223 [Gene - OMIM - HGNC]
• MIR424:microRNA 424 [Gene - OMIM - HGNC]
• MIR448:microRNA 448 [Gene - OMIM - HGNC]
• MIR502:microRNA 502 [Gene - OMIM - HGNC]
• MIR503:microRNA 503 [Gene - OMIM - HGNC]
• MIR532:microRNA 532 [Gene - OMIM - HGNC]
• MIR98:microRNA 98 [Gene - OMIM - HGNC]
• MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
• MID2:midline 2 [Gene - OMIM - HGNC]
• MPC1L:mitochondrial pyruvate carrier 1 like [Gene - HGNC]
• MSN:moesin [Gene - OMIM - HGNC]
• MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
• MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
• MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
• MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
• MBNL3:muscleblind like splicing regulator 3 [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]
• NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
• NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
• NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
• NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
• NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
• NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
• NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
• NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
• NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
• NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
• NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
• NYX:nyctalopin [Gene - OMIM - HGNC]
• OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
• OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
• OTC:ornithine transcarbamylase [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]
• PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
• PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
• PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
• PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
• PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
• PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
• KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
• KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
• PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
• PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
• PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
• PRR32:proline rich 32 [Gene - HGNC]
• PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
• PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
• PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
• PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - HGNC]
• PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
• PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
• PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
• PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
• P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
• RGN:regucalcin [Gene - OMIM - HGNC]
• RPA4:replication protein A4 [Gene - OMIM - HGNC]
• RPGR:retinitis pigmentosa GTPase regulator [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]
• 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]
• SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
• SMIM10:small integral membrane protein 10 [Gene - HGNC]
• SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
• SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
• SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
• SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
• SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
• SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
• SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
• SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
• SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
• SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
• SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
• SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
• SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
• SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
• SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
• SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
• 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]
• SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
• SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
• SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
• SYN1:synapsin I [Gene - OMIM - HGNC]
• SYP:synaptophysin [Gene - OMIM - HGNC]
• SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
• SYTL5:synaptotagmin like 5 [Gene - HGNC]
• TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
• TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
• 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]
• TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
• TSPAN7:tetraspanin 7 [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]
• TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
• TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
• TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
• TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
• TMEM164:transmembrane protein 164 [Gene - HGNC]
• TMEM255A:transmembrane protein 255A [Gene - HGNC]
• TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
• TMEM35A:transmembrane protein 35A [Gene - HGNC]
• TRO:trophinin [Gene - OMIM - HGNC]
• UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
• UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
• UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
• USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
• USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
• USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
• USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
• USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
• UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
• UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
• 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]
• ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
• ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
• ZNF280C:zinc finger protein 280C [Gene - HGNC]
• ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
• ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
• ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
• ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
• ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
• ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
• ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp21.1-q26.3

Genomic location:

ChrX: 36649710 - 136649711 (on Assembly GRCh37)

Preferred name:

NC_000023.10:g.36649710_136649711del100000002insG

HGVS:

NC_000023.10:g.36649710_136649711del100000002insG

This HGVS expression did not pass validation