NC_000023.10:g.36649710_136649711del100000002insG AND Heterotaxy, visceral, 1, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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

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

Record status:: current
Accession:: RCV000754886.2

Allele description [Variation Report for NC_000023.10:g.36649710_136649711del100000002insG]

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]
STAG2:STAG2 cohesin complex component [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]
VCF2:VCP nuclear cofactor family member 2 [Gene - 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 - OMIM - HGNC]
CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
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 - OMIM - 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]
FAM120C:family with sequence similarity 120 member C [Gene - OMIM - HGNC]
FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
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 - OMIM - 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 - OMIM - HGNC]
MSN:moesin [Gene - OMIM - HGNC]
MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
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 - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
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 - 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

Condition(s)

Name:: Heterotaxy, visceral, 1, X-linked (HTX1)
Synonyms:: Heterotaxy, visceral, X-linked; Dextrocardia with other cardiac malformations; Laterality, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010607; MedGen: C1844020; Orphanet: 450; OMIM: 306955

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000778483	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Pathogenic (May 28, 2018)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000778483

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Pathogenic
(May 28, 2018)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	not provided	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000778483.1

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

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

Last Updated: Sep 1, 2024

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