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Single allele AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 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:
RCV000714264.1

Allele description [Variation Report for Single allele]

Genes:
  • HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
  • NT5DC4:5'-nucleotidase domain containing 4 [Gene - HGNC]
  • AFF3:ALF transcription elongation factor 3 [Gene - OMIM - HGNC]
  • ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
  • AMMECR1L:AMMECR1 like [Gene - HGNC]
  • ANTXR1:ANTXR cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • AAK1:AP2 associated kinase 1 [Gene - OMIM - HGNC]
  • AMER3:APC membrane recruitment protein 3 [Gene - HGNC]
  • ARID5A:AT-rich interaction domain 5A [Gene - OMIM - HGNC]
  • ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
  • ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]
  • ATP6V1B1:ATPase H+ transporting V1 subunit B1 [Gene - OMIM - HGNC]
  • ATP6V1E2:ATPase H+ transporting V1 subunit E2 [Gene - OMIM - HGNC]
  • AUP1:AUP1 lipid droplet regulating VLDL assembly factor [Gene - OMIM - HGNC]
  • BCL11A:BCL11 transcription factor A [Gene - OMIM - HGNC]
  • BCL2L11:BCL2 like 11 [Gene - OMIM - HGNC]
  • BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
  • CXCR4:C-X-C motif chemokine receptor 4 [Gene - OMIM - HGNC]
  • CLEC4F:C-type lectin domain family 4 member F [Gene - OMIM - HGNC]
  • C1D:C1D nuclear receptor corepressor [Gene - OMIM - HGNC]
  • CNOT11:CCR4-NOT transcription complex subunit 11 [Gene - OMIM - HGNC]
  • CD207:CD207 molecule [Gene - OMIM - HGNC]
  • CD8A:CD8 subunit alpha [Gene - OMIM - HGNC]
  • CD8B:CD8 subunit beta [Gene - OMIM - HGNC]
  • CDRT15P3:CDRT15 pseudogene 3 [Gene - HGNC]
  • CRACDL:CRACD like [Gene - HGNC]
  • CRIPT:CXXC repeat containing interactor of PDZ3 domain [Gene - OMIM - HGNC]
  • CHAC2:ChaC glutathione specific gamma-glutamylcyclotransferase 2 [Gene - OMIM - HGNC]
  • DDX18:DEAD-box helicase 18 [Gene - OMIM - HGNC]
  • DQX1:DEAQ-box RNA dependent ATPase 1 [Gene - HGNC]
  • POLE4:DNA polymerase epsilon 4, accessory subunit [Gene - OMIM - HGNC]
  • ECRG4:ECRG4 augurin precursor [Gene - OMIM - HGNC]
  • EFEMP1:EGF containing fibulin extracellular matrix protein 1 [Gene - OMIM - HGNC]
  • EHBP1:EH domain binding protein 1 [Gene - OMIM - HGNC]
  • ELMOD3:ELMO domain containing 3 [Gene - OMIM - HGNC]
  • EML4:EMAP like 4 [Gene - OMIM - HGNC]
  • EML6:EMAP like 6 [Gene - HGNC]
  • ERCC3:ERCC excision repair 3, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
  • ETAA1:ETAA1 activator of ATR kinase [Gene - OMIM - HGNC]
  • FBXO11:F-box protein 11 [Gene - OMIM - HGNC]
  • FBXO41:F-box protein 41 [Gene - OMIM - HGNC]
  • FBXO48:F-box protein 48 [Gene - HGNC]
  • FANCL:FA complementation group L [Gene - OMIM - HGNC]
  • FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]
  • GPR148:G protein-coupled receptor 148 [Gene - HGNC]
  • GPR17:G protein-coupled receptor 17 [Gene - OMIM - HGNC]
  • GPR39:G protein-coupled receptor 39 [Gene - OMIM - HGNC]
  • GPR45:G protein-coupled receptor 45 [Gene - OMIM - HGNC]
  • GPR75:G protein-coupled receptor 75 [Gene - OMIM - HGNC]
  • GCFC2:GC-rich sequence DNA-binding factor 2 [Gene - OMIM - HGNC]
  • GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]
  • GPR75-ASB3:GPR75-ASB3 readthrough [Gene - HGNC]
  • GCC2:GRIP and coiled-coil domain containing 2 [Gene - OMIM - HGNC]
  • HTRA2:HtrA serine peptidase 2 [Gene - OMIM - HGNC]
  • IMP4:IMP U3 small nucleolar ribonucleoprotein 4 [Gene - OMIM - HGNC]
  • INO80B:INO80 complex subunit B [Gene - OMIM - HGNC]
  • ITPRIPL1:ITPRIP like 1 [Gene - HGNC]
  • KANSL3:KAT8 regulatory NSL complex subunit 3 [Gene - OMIM - HGNC]
  • LRP1B:LDL receptor related protein 1B [Gene - OMIM - HGNC]
  • LIMS1:LIM zinc finger domain containing 1 [Gene - OMIM - HGNC]
  • LIMS2:LIM zinc finger domain containing 2 [Gene - OMIM - HGNC]
  • LIMS3:LIM zinc finger domain containing 3 [Gene - HGNC]
  • LIMS4:LIM zinc finger domain containing 4 [Gene - HGNC]
  • LONRF2:LON peptidase N-terminal domain and ring finger 2 [Gene - HGNC]
  • LYPD1:LY6/PLAUR domain containing 1 [Gene - OMIM - HGNC]
  • MPHOSPH10:M-phase phosphoprotein 10 [Gene - OMIM - HGNC]
  • MXD1:MAX dimerization protein 1 [Gene - OMIM - HGNC]
  • MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • MOB1A:MOB kinase activator 1A [Gene - OMIM - HGNC]
  • MSH2-OT1:MSH2 overlapping transcript 1 [Gene - HGNC]
  • MEIS1:Meis homeobox 1 [Gene - OMIM - HGNC]
  • NAGK:N-acetylglucosamine kinase [Gene - OMIM - HGNC]
  • NAT8:N-acetyltransferase 8 (putative) [Gene - OMIM - HGNC]
  • NAT8B:N-acetyltransferase 8B (putative, gene/pseudogene) [Gene - OMIM - HGNC]
  • NCK2:NCK adaptor protein 2 [Gene - OMIM - HGNC]
  • NCKAP5:NCK associated protein 5 [Gene - OMIM - HGNC]
  • NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]
  • POTEE:POTE ankyrin domain family member E [Gene - OMIM - HGNC]
  • POTEF:POTE ankyrin domain family member F [Gene - HGNC]
  • POTEI:POTE ankyrin domain family member I [Gene - HGNC]
  • POTEJ:POTE ankyrin domain family member J [Gene - HGNC]
  • POU3F3:POU class 3 homeobox 3 [Gene - OMIM - HGNC]
  • R3HDM1:R3H domain containing 1 [Gene - OMIM - HGNC]
  • RABL2A:RAB, member of RAS oncogene family like 2A [Gene - OMIM - HGNC]
  • RAB11FIP5:RAB11 family interacting protein 5 [Gene - OMIM - HGNC]
  • RAB1A:RAB1A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB3GAP1:RAB3 GTPase activating protein catalytic subunit 1 [Gene - OMIM - HGNC]
  • RAB6C:RAB6C, member RAS oncogene family [Gene - OMIM - HGNC]
  • RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
  • RGPD1:RANBP2 like and GRIP domain containing 1 [Gene - OMIM - HGNC]
  • RGPD2:RANBP2 like and GRIP domain containing 2 [Gene - OMIM - HGNC]
  • RGPD3:RANBP2 like and GRIP domain containing 3 [Gene - OMIM - HGNC]
  • RGPD4:RANBP2 like and GRIP domain containing 4 [Gene - OMIM - HGNC]
  • RGPD5:RANBP2 like and GRIP domain containing 5 [Gene - OMIM - HGNC]
  • RGPD6:RANBP2 like and GRIP domain containing 6 [Gene - OMIM - HGNC]
  • RGPD8:RANBP2 like and GRIP domain containing 8 [Gene - OMIM - HGNC]
  • RALB:RAS like proto-oncogene B [Gene - OMIM - HGNC]
  • REL:REL proto-oncogene, NF-kB subunit [Gene - OMIM - HGNC]
  • REV1:REV1 DNA directed polymerase [Gene - OMIM - HGNC]
  • POLR1A:RNA polymerase I subunit A [Gene - OMIM - HGNC]
  • POLR1B:RNA polymerase I subunit B [Gene - OMIM - HGNC]
  • POLR2D:RNA polymerase II subunit D [Gene - OMIM - HGNC]
  • RNU4ATAC:RNA, U4atac small nuclear [Gene - OMIM - HGNC]
  • RNF103-CHMP3:RNF103-CHMP3 readthrough [Gene - HGNC]
  • ARHGAP15:Rho GTPase activating protein 15 [Gene - OMIM - HGNC]
  • ARHGAP25:Rho GTPase activating protein 25 [Gene - OMIM - HGNC]
  • ARHGEF4:Rho guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
  • SRBD1:S1 RNA binding domain 1 [Gene - HGNC]
  • SANBR:SANT and BTB domain regulator of CSR [Gene - OMIM - HGNC]
  • SERTAD2:SERTA domain containing 2 [Gene - OMIM - HGNC]
  • SMYD1:SET and MYND domain containing 1 [Gene - OMIM - HGNC]
  • SFT2D3:SFT2 domain containing 3 [Gene - HGNC]
  • SH2D6:SH2 domain containing 6 [Gene - HGNC]
  • SIX2:SIX homeobox 2 [Gene - OMIM - HGNC]
  • SIX3:SIX homeobox 3 [Gene - OMIM - HGNC]
  • SMYD5:SMYD family member 5 [Gene - OMIM - HGNC]
  • ST3GAL5:ST3 beta-galactoside alpha-2,3-sialyltransferase 5 [Gene - OMIM - HGNC]
  • ST6GAL2:ST6 beta-galactoside alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
  • STAMBP:STAM binding protein [Gene - OMIM - HGNC]
  • STEAP3:STEAP3 metalloreductase [Gene - OMIM - HGNC]
  • STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
  • SAP130:Sin3A associated protein 130 [Gene - OMIM - HGNC]
  • STARD7:StAR related lipid transfer domain containing 7 [Gene - OMIM - HGNC]
  • TLX2:T cell leukemia homeobox 2 [Gene - OMIM - HGNC]
  • TBC1D8:TBC1 domain family member 8 [Gene - HGNC]
  • THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]
  • TIA1:TIA1 cytotoxic granule associated RNA binding protein [Gene - OMIM - HGNC]
  • TPRKB:TP53RK binding protein [Gene - OMIM - HGNC]
  • TSPYL6:TSPY like 6 [Gene - HGNC]
  • TRABD2A:TraB domain containing 2A [Gene - OMIM - HGNC]
  • UBXN4:UBX domain protein 4 [Gene - OMIM - HGNC]
  • B3GNT2:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Gene - OMIM - HGNC]
  • UGGT1:UDP-glucose glycoprotein glucosyltransferase 1 [Gene - OMIM - HGNC]
  • UGP2:UDP-glucose pyrophosphorylase 2 [Gene - OMIM - HGNC]
  • UXS1:UDP-glucuronate decarboxylase 1 [Gene - OMIM - HGNC]
  • VPS54:VPS54 subunit of GARP complex [Gene - OMIM - HGNC]
  • VRK2:VRK serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • WDPCP:WD repeat containing planar cell polarity effector [Gene - OMIM - HGNC]
  • WDR33:WD repeat domain 33 [Gene - OMIM - HGNC]
  • WDR54:WD repeat domain 54 [Gene - HGNC]
  • WBP1:WW domain binding protein 1 [Gene - OMIM - HGNC]
  • ZFP36L2:ZFP36 ring finger protein like 2 [Gene - OMIM - HGNC]
  • ZNG1B:Zn regulated GTPase metalloprotein activator 1B [Gene - OMIM - HGNC]
  • ACTG2:actin gamma 2, smooth muscle [Gene - OMIM - HGNC]
  • ACTR1B:actin related protein 1B [Gene - OMIM - HGNC]
  • ACTR2:actin related protein 2 [Gene - OMIM - HGNC]
  • ACTR3:actin related protein 3 [Gene - OMIM - HGNC]
  • ACOXL:acyl-CoA oxidase like [Gene - HGNC]
  • ACYP2:acylphosphatase 2 [Gene - OMIM - HGNC]
  • ADD2:adducin 2 [Gene - OMIM - HGNC]
  • ADRA2B:adrenoceptor alpha 2B [Gene - OMIM - HGNC]
  • AFTPH:aftiphilin [Gene - OMIM - HGNC]
  • MGAT4A:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A [Gene - OMIM - HGNC]
  • MGAT5:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • ACMSD:aminocarboxymuconate semialdehyde decarboxylase [Gene - OMIM - HGNC]
  • ANAPC1:anaphase promoting complex subunit 1 [Gene - OMIM - HGNC]
  • ASB3:ankyrin repeat and SOCS box containing 3 [Gene - OMIM - HGNC]
  • ANKRD23:ankyrin repeat domain 23 [Gene - OMIM - HGNC]
  • ANKRD36:ankyrin repeat domain 36 [Gene - OMIM - HGNC]
  • ANKRD36B:ankyrin repeat domain 36B [Gene - HGNC]
  • ANKRD36C:ankyrin repeat domain 36C [Gene - HGNC]
  • ANKRD39:ankyrin repeat domain 39 [Gene - HGNC]
  • ANKRD53:ankyrin repeat domain 53 [Gene - OMIM - HGNC]
  • ANXA4:annexin A4 [Gene - OMIM - HGNC]
  • APLF:aprataxin and PNKP like factor [Gene - OMIM - HGNC]
  • ASPRV1:aspartic peptidase retroviral like 1 [Gene - OMIM - HGNC]
  • DARS1:aspartyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ASTL:astacin like metalloendopeptidase [Gene - OMIM - HGNC]
  • ATOH8:atonal bHLH transcription factor 8 [Gene - OMIM - HGNC]
  • BOLA3:bolA family member 3 [Gene - OMIM - HGNC]
  • BMP10:bone morphogenetic protein 10 [Gene - OMIM - HGNC]
  • BCYRN1:brain cytoplasmic RNA 1 [Gene - OMIM - HGNC]
  • BIN1:bridging integrator 1 [Gene - OMIM - HGNC]
  • CALM2:calmodulin 2 [Gene - OMIM - HGNC]
  • CAMKMT:calmodulin-lysine N-methyltransferase [Gene - OMIM - HGNC]
  • CNRIP1:cannabinoid receptor interacting protein 1 [Gene - OMIM - HGNC]
  • CAPG:capping actin protein, gelsolin like [Gene - OMIM - HGNC]
  • CHST10:carbohydrate sulfotransferase 10 [Gene - OMIM - HGNC]
  • CTNNA2:catenin alpha 2 [Gene - OMIM - HGNC]
  • CREG2:cellular repressor of E1A stimulated genes 2 [Gene - OMIM - HGNC]
  • CEP68:centrosomal protein 68 [Gene - OMIM - HGNC]
  • CCT4:chaperonin containing TCP1 subunit 4 [Gene - OMIM - HGNC]
  • CCT7:chaperonin containing TCP1 subunit 7 [Gene - OMIM - HGNC]
  • CHMP3:charged multivesicular body protein 3 [Gene - OMIM - HGNC]
  • C2orf15:chromosome 2 open reading frame 15 [Gene - HGNC]
  • C2orf27A:chromosome 2 open reading frame 27A [Gene - HGNC]
  • C2orf42:chromosome 2 open reading frame 42 [Gene - HGNC]
  • C2orf49:chromosome 2 open reading frame 49 [Gene - HGNC]
  • C2orf68:chromosome 2 open reading frame 68 [Gene - OMIM - HGNC]
  • C2orf73:chromosome 2 open reading frame 73 [Gene - HGNC]
  • C2orf74:chromosome 2 open reading frame 74 [Gene - HGNC]
  • C2orf76:chromosome 2 open reading frame 76 [Gene - HGNC]
  • C2orf78:chromosome 2 open reading frame 78 [Gene - HGNC]
  • C2orf81:chromosome 2 open reading frame 81 [Gene - HGNC]
  • CFAP36:cilia and flagella associated protein 36 [Gene - HGNC]
  • CLHC1:clathrin heavy chain linker domain containing 1 [Gene - HGNC]
  • CCDC115:coiled-coil domain containing 115 [Gene - OMIM - HGNC]
  • CCDC138:coiled-coil domain containing 138 [Gene - HGNC]
  • CCDC142:coiled-coil domain containing 142 [Gene - HGNC]
  • CCDC74A:coiled-coil domain containing 74A [Gene - HGNC]
  • CCDC74B:coiled-coil domain containing 74B [Gene - HGNC]
  • CCDC85A:coiled-coil domain containing 85A [Gene - HGNC]
  • CCDC88A:coiled-coil domain containing 88A [Gene - OMIM - HGNC]
  • CCDC93:coiled-coil domain containing 93 [Gene - HGNC]
  • CHCHD5:coiled-coil-helix-coiled-coil-helix domain containing 5 [Gene - OMIM - HGNC]
  • C1QL2:complement C1q like 2 [Gene - OMIM - HGNC]
  • CNTNAP5:contactin associated protein family member 5 [Gene - OMIM - HGNC]
  • COMMD1:copper metabolism domain containing 1 [Gene - OMIM - HGNC]
  • CFC1:cryptic, EGF-CFC family member 1 [Gene - OMIM - HGNC]
  • CFC1B:cryptic, EGF-CFC family member 1B [Gene - HGNC]
  • CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
  • CCNT2:cyclin T2 [Gene - OMIM - HGNC]
  • CNNM3:cyclin and CBS domain divalent metal cation transport mediator 3 [Gene - OMIM - HGNC]
  • CNNM4:cyclin and CBS domain divalent metal cation transport mediator 4 [Gene - OMIM - HGNC]
  • CYP26B1:cytochrome P450 family 26 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP27C1:cytochrome P450 family 27 subfamily C member 1 [Gene - HGNC]
  • COA5:cytochrome c oxidase assembly factor 5 [Gene - OMIM - HGNC]
  • COX5B:cytochrome c oxidase subunit 5B [Gene - OMIM - HGNC]
  • COX7A2L:cytochrome c oxidase subunit 7A2 like [Gene - OMIM - HGNC]
  • CLASP1:cytoplasmic linker associated protein 1 [Gene - OMIM - HGNC]
  • CKAP2L:cytoskeleton associated protein 2 like [Gene - OMIM - HGNC]
  • CIAO1:cytosolic iron-sulfur assembly component 1 [Gene - OMIM - HGNC]
  • DGUOK:deoxyguanosine kinase [Gene - OMIM - HGNC]
  • DBI:diazepam binding inhibitor, acyl-CoA binding protein [Gene - OMIM - HGNC]
  • DPP10:dipeptidyl peptidase like 10 [Gene - OMIM - HGNC]
  • DOK1:docking protein 1 [Gene - OMIM - HGNC]
  • DUSP11:dual specificity phosphatase 11 [Gene - OMIM - HGNC]
  • DUSP2:dual specificity phosphatase 2 [Gene - OMIM - HGNC]
  • DCTN1:dynactin subunit 1 [Gene - OMIM - HGNC]
  • DNAAF10:dynein axonemal assembly factor 10 [Gene - OMIM - HGNC]
  • DNAH6:dynein axonemal heavy chain 6 [Gene - OMIM - HGNC]
  • DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
  • DYSF:dysferlin [Gene - OMIM - HGNC]
  • EGR4:early growth response 4 [Gene - OMIM - HGNC]
  • EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
  • EMX1:empty spiracles homeobox 1 [Gene - OMIM - HGNC]
  • ERLEC1:endoplasmic reticulum lectin 1 [Gene - OMIM - HGNC]
  • EPAS1:endothelial PAS domain protein 1 [Gene - OMIM - HGNC]
  • EN1:engrailed homeobox 1 [Gene - OMIM - HGNC]
  • EPCAM:epithelial cell adhesion molecule [Gene - OMIM - HGNC]
  • EPB41L5:erythrocyte membrane protein band 4.1 like 5 [Gene - OMIM - HGNC]
  • EIF2AK3:eukaryotic translation initiation factor 2 alpha kinase 3 [Gene - OMIM - HGNC]
  • EIF5B:eukaryotic translation initiation factor 5B [Gene - OMIM - HGNC]
  • EVA1A:eva-1 homolog A, regulator of programmed cell death [Gene - OMIM - HGNC]
  • EXOC6B:exocyst complex component 6B [Gene - OMIM - HGNC]
  • XPO1:exportin 1 [Gene - OMIM - HGNC]
  • FAM136A:family with sequence similarity 136 member A [Gene - OMIM - HGNC]
  • FAM168B:family with sequence similarity 168 member B [Gene - OMIM - HGNC]
  • FAM178B:family with sequence similarity 178 member B [Gene - HGNC]
  • FABP1:fatty acid binding protein 1 [Gene - OMIM - HGNC]
  • FER1L5:fer-1 like family member 5 [Gene - HGNC]
  • FBLN7:fibulin 7 [Gene - OMIM - HGNC]
  • FSHR:follicle stimulating hormone receptor [Gene - OMIM - HGNC]
  • FIGLA:folliculogenesis specific bHLH transcription factor [Gene - OMIM - HGNC]
  • FOXD4L1:forkhead box D4 like 1 [Gene - OMIM - HGNC]
  • FOXI3:forkhead box I3 [Gene - OMIM - HGNC]
  • FOXN2:forkhead box N2 [Gene - OMIM - HGNC]
  • FHL2:four and a half LIM domains 2 [Gene - OMIM - HGNC]
  • FAHD2A:fumarylacetoacetate hydrolase domain containing 2A [Gene - HGNC]
  • FAHD2B:fumarylacetoacetate hydrolase domain containing 2B [Gene - HGNC]
  • LGALSL:galectin like [Gene - OMIM - HGNC]
  • GGCX:gamma-glutamyl carboxylase [Gene - OMIM - HGNC]
  • GKN1:gastrokine 1 [Gene - OMIM - HGNC]
  • GKN2:gastrokine 2 [Gene - OMIM - HGNC]
  • GTF2A1L:general transcription factor IIA subunit 1 like [Gene - OMIM - HGNC]
  • GMCL1:germ cell-less 1, spermatogenesis associated [Gene - OMIM - HGNC]
  • GFPT1:glutamine--fructose-6-phosphate transaminase 1 [Gene - OMIM - HGNC]
  • GPAT2:glycerol-3-phosphate acyltransferase 2, mitochondrial [Gene - OMIM - HGNC]
  • GYPC:glycophorin C (Gerbich blood group) [Gene - OMIM - HGNC]
  • GTDC1:glycosyltransferase like domain containing 1 [Gene - OMIM - HGNC]
  • GNLY:granulysin [Gene - OMIM - HGNC]
  • HS6ST1:heparan sulfate 6-O-sulfotransferase 1 [Gene - OMIM - HGNC]
  • HK2:hexokinase 2 [Gene - OMIM - HGNC]
  • HNMT:histamine N-methyltransferase [Gene - OMIM - HGNC]
  • IGKC:immunoglobulin kappa constant [Gene - OMIM - HGNC]
  • INHBB:inhibin subunit beta B [Gene - OMIM - HGNC]
  • IMMT:inner membrane mitochondrial protein [Gene - OMIM - HGNC]
  • INPP4A:inositol polyphosphate-4-phosphatase type I A [Gene - OMIM - HGNC]
  • INSIG2:insulin induced gene 2 [Gene - OMIM - HGNC]
  • IWS1:interacts with SUPT6H, CTD assembly factor 1 [Gene - HGNC]
  • IL1A:interleukin 1 alpha [Gene - OMIM - HGNC]
  • IL1B:interleukin 1 beta [Gene - OMIM - HGNC]
  • IL1F10:interleukin 1 family member 10 [Gene - OMIM - HGNC]
  • IL1RN:interleukin 1 receptor antagonist [Gene - OMIM - HGNC]
  • IL1RL1:interleukin 1 receptor like 1 [Gene - OMIM - HGNC]
  • IL1RL2:interleukin 1 receptor like 2 [Gene - OMIM - HGNC]
  • IL1R1:interleukin 1 receptor type 1 [Gene - OMIM - HGNC]
  • IL1R2:interleukin 1 receptor type 2 [Gene - OMIM - HGNC]
  • IL18R1:interleukin 18 receptor 1 [Gene - OMIM - HGNC]
  • IL18RAP:interleukin 18 receptor accessory protein [Gene - OMIM - HGNC]
  • IL36A:interleukin 36 alpha [Gene - OMIM - HGNC]
  • IL36B:interleukin 36 beta [Gene - OMIM - HGNC]
  • IL36G:interleukin 36 gamma [Gene - OMIM - HGNC]
  • IL36RN:interleukin 36 receptor antagonist [Gene - OMIM - HGNC]
  • IL37:interleukin 37 [Gene - OMIM - HGNC]
  • KYNU:kynureninase [Gene - OMIM - HGNC]
  • LCT:lactase [Gene - OMIM - HGNC]
  • LBX2:ladybird homeobox 2 [Gene - OMIM - HGNC]
  • LMAN2L:lectin, mannose binding 2 like [Gene - OMIM - HGNC]
  • LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
  • LRRTM1:leucine rich repeat transmembrane neuronal 1 [Gene - OMIM - HGNC]
  • LRRTM4:leucine rich repeat transmembrane neuronal 4 [Gene - OMIM - HGNC]
  • LIPT1:lipoyltransferase 1 [Gene - OMIM - HGNC]
  • LINC01873:long intergenic non-protein coding RNA 1873 [Gene - HGNC]
  • LINC02898:long intergenic non-protein coding RNA 2898 [Gene - HGNC]
  • LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]
  • KDM3A:lysine demethylase 3A [Gene - OMIM - HGNC]
  • KRCC1:lysine rich coiled-coil 1 [Gene - HGNC]
  • LYG1:lysozyme g1 [Gene - HGNC]
  • LYG2:lysozyme g2 [Gene - OMIM - HGNC]
  • LOXL3:lysyl oxidase like 3 [Gene - OMIM - HGNC]
  • MARCO:macrophage receptor with collagenous structure [Gene - OMIM - HGNC]
  • MFSD9:major facilitator superfamily domain containing 9 [Gene - OMIM - HGNC]
  • MALL:mal, T cell differentiation protein like [Gene - OMIM - HGNC]
  • MAL:mal, T cell differentiation protein [Gene - OMIM - HGNC]
  • MDH1:malate dehydrogenase 1 [Gene - OMIM - HGNC]
  • MOGS:mannosyl-oligosaccharide glucosidase [Gene - OMIM - HGNC]
  • M1AP:meiosis 1 associated protein [Gene - OMIM - HGNC]
  • MTA3:metastasis associated 1 family member 3 [Gene - OMIM - HGNC]
  • MAT2A:methionine adenosyltransferase 2A [Gene - OMIM - HGNC]
  • MTHFD2:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase [Gene - OMIM - HGNC]
  • MCEE:methylmalonyl-CoA epimerase [Gene - OMIM - HGNC]
  • MIR128-1:microRNA 128-1 [Gene - OMIM - HGNC]
  • MIR216A:microRNA 216a [Gene - OMIM - HGNC]
  • MIR217:microRNA 217 [Gene - OMIM - HGNC]
  • MITD1:microtubule interacting and trafficking domain containing 1 [Gene - HGNC]
  • MCM6:minichromosome maintenance complex component 6 [Gene - OMIM - HGNC]
  • MRPL19:mitochondrial ribosomal protein L19 [Gene - OMIM - HGNC]
  • MRPL30:mitochondrial ribosomal protein L30 [Gene - OMIM - HGNC]
  • MRPL35:mitochondrial ribosomal protein L35 [Gene - OMIM - HGNC]
  • MRPL53:mitochondrial ribosomal protein L53 [Gene - OMIM - HGNC]
  • MRPS5:mitochondrial ribosomal protein S5 [Gene - OMIM - HGNC]
  • MRPS9:mitochondrial ribosomal protein S9 [Gene - OMIM - HGNC]
  • MTIF2:mitochondrial translational initiation factor 2 [Gene - OMIM - HGNC]
  • MAP3K19:mitogen-activated protein kinase kinase kinase 19 [Gene - HGNC]
  • MAP3K2:mitogen-activated protein kinase kinase kinase 2 [Gene - OMIM - HGNC]
  • MAP4K4:mitogen-activated protein kinase kinase kinase kinase 4 [Gene - OMIM - HGNC]
  • MZT2A:mitotic spindle organizing protein 2A [Gene - OMIM - HGNC]
  • MZT2B:mitotic spindle organizing protein 2B [Gene - OMIM - HGNC]
  • MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]
  • MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
  • MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
  • MYO7B:myosin VIIB [Gene - OMIM - HGNC]
  • NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]
  • NRXN1:neurexin 1 [Gene - OMIM - HGNC]
  • NXPH2:neurexophilin 2 [Gene - OMIM - HGNC]
  • NMS:neuromedin S [Gene - OMIM - HGNC]
  • NPAS2:neuronal PAS domain protein 2 [Gene - OMIM - HGNC]
  • NCAPH:non-SMC condensin I complex subunit H [Gene - OMIM - HGNC]
  • NOTO:notochord homeobox [Gene - HGNC]
  • NIFK:nucleolar protein interacting with the FHA domain of MKI67 [Gene - OMIM - HGNC]
  • OTX1:orthodenticle homeobox 1 [Gene - OMIM - HGNC]
  • OXER1:oxoeicosanoid receptor 1 [Gene - OMIM - HGNC]
  • PAX8:paired box 8 [Gene - OMIM - HGNC]
  • PNO1:partner of NOB1 homolog [Gene - OMIM - HGNC]
  • PELI1:pellino E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • PTCD3:pentatricopeptide repeat domain 3 [Gene - OMIM - HGNC]
  • PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]
  • PDCL3:phosducin like 3 [Gene - OMIM - HGNC]
  • PIGF:phosphatidylinositol glycan anchor biosynthesis class F [Gene - OMIM - HGNC]
  • PLGLB1:plasminogen like B1 [Gene - OMIM - HGNC]
  • PSD4:pleckstrin and Sec7 domain containing 4 [Gene - OMIM - HGNC]
  • PLEKHB2:pleckstrin homology domain containing B2 [Gene - OMIM - HGNC]
  • PLEKHH2:pleckstrin homology, MyTH4 and FERM domain containing H2 [Gene - OMIM - HGNC]
  • PLEK:pleckstrin [Gene - OMIM - HGNC]
  • PAIP2B:poly(A) binding protein interacting protein 2B [Gene - OMIM - HGNC]
  • PAPOLG:poly(A) polymerase gamma [Gene - OMIM - HGNC]
  • PCBP1:poly(rC) binding protein 1 [Gene - OMIM - HGNC]
  • PCGF1:polycomb group ring finger 1 [Gene - OMIM - HGNC]
  • PNPT1:polyribonucleotide nucleotidyltransferase 1 [Gene - OMIM - HGNC]
  • KCMF1:potassium channel modulatory factor 1 [Gene - OMIM - HGNC]
  • KCNK12:potassium two pore domain channel subfamily K member 12 [Gene - OMIM - HGNC]
  • KCNIP3:potassium voltage-gated channel interacting protein 3 [Gene - OMIM - HGNC]
  • KCNG3:potassium voltage-gated channel modifier subfamily G member 3 [Gene - OMIM - HGNC]
  • PCYOX1:prenylcysteine oxidase 1 [Gene - OMIM - HGNC]
  • PROKR1:prokineticin receptor 1 [Gene - OMIM - HGNC]
  • PREPL:prolyl endopeptidase like [Gene - OMIM - HGNC]
  • PROM2:prominin 2 [Gene - OMIM - HGNC]
  • PRADC1:protease associated domain containing 1 [Gene - OMIM - HGNC]
  • PSME4:proteasome activator subunit 4 [Gene - OMIM - HGNC]
  • PROC:protein C, inactivator of coagulation factors Va and VIIIa [Gene - OMIM - HGNC]
  • PRKCE:protein kinase C epsilon [Gene - OMIM - HGNC]
  • PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
  • PPP1R21:protein phosphatase 1 regulatory subunit 21 [Gene - OMIM - HGNC]
  • PPP3R1:protein phosphatase 3 regulatory subunit B, alpha [Gene - OMIM - HGNC]
  • PPP4R3B:protein phosphatase 4 regulatory subunit 3B [Gene - OMIM - HGNC]
  • PPM1B:protein phosphatase, Mg2+/Mn2+ dependent 1B [Gene - OMIM - HGNC]
  • PTPN18:protein tyrosine phosphatase non-receptor type 18 [Gene - OMIM - HGNC]
  • PTPN4:protein tyrosine phosphatase non-receptor type 4 [Gene - OMIM - HGNC]
  • PUS10:pseudouridine synthase 10 [Gene - OMIM - HGNC]
  • RHOQ:ras homolog family member Q [Gene - OMIM - HGNC]
  • REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]
  • REG1A:regenerating family member 1 alpha [Gene - OMIM - HGNC]
  • REG1B:regenerating family member 1 beta [Gene - OMIM - HGNC]
  • REG3A:regenerating family member 3 alpha [Gene - OMIM - HGNC]
  • REG3G:regenerating family member 3 gamma [Gene - OMIM - HGNC]
  • RFX8:regulatory factor X8 [Gene - HGNC]
  • RMND5A:required for meiotic nuclear division 5 homolog A [Gene - OMIM - HGNC]
  • RTN4:reticulon 4 [Gene - OMIM - HGNC]
  • RETSAT:retinol saturase [Gene - OMIM - HGNC]
  • RTKN:rhotekin [Gene - OMIM - HGNC]
  • RPIA:ribose 5-phosphate isomerase A [Gene - OMIM - HGNC]
  • RPL31:ribosomal protein L31 [Gene - OMIM - HGNC]
  • RPS27A:ribosomal protein S27a [Gene - OMIM - HGNC]
  • RNF103:ring finger protein 103 [Gene - OMIM - HGNC]
  • RNF149:ring finger protein 149 [Gene - HGNC]
  • RNF181:ring finger protein 181 [Gene - OMIM - HGNC]
  • SCTR:secretin receptor [Gene - OMIM - HGNC]
  • SEMA4C:semaphorin 4C [Gene - OMIM - HGNC]
  • SPR:sepiapterin reductase [Gene - OMIM - HGNC]
  • SEPTIN10:septin 10 [Gene - OMIM - HGNC]
  • SFXN5:sideroflexin 5 [Gene - OMIM - HGNC]
  • SNRNP27:small nuclear ribonucleoprotein U4/U6.U5 subunit 27 [Gene - OMIM - HGNC]
  • SNRNP200:small nuclear ribonucleoprotein U5 subunit 200 [Gene - OMIM - HGNC]
  • SNRPG:small nuclear ribonucleoprotein polypeptide G [Gene - OMIM - HGNC]
  • SLC1A4:solute carrier family 1 member 4 [Gene - OMIM - HGNC]
  • SLC20A1:solute carrier family 20 member 1 [Gene - OMIM - HGNC]
  • SLC3A1:solute carrier family 3 member 1 [Gene - OMIM - HGNC]
  • SLC35F5:solute carrier family 35 member F5 [Gene - OMIM - HGNC]
  • SLC4A5:solute carrier family 4 member 5 [Gene - OMIM - HGNC]
  • SLC5A7:solute carrier family 5 member 7 [Gene - OMIM - HGNC]
  • SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
  • SLC9A2:solute carrier family 9 member A2 [Gene - OMIM - HGNC]
  • SLC9A4:solute carrier family 9 member A4 [Gene - OMIM - HGNC]
  • SOWAHC:sosondowah ankyrin repeat domain family member C [Gene - HGNC]
  • SPOPL:speckle type BTB/POZ protein like [Gene - HGNC]
  • SPTBN1:spectrin beta, non-erythrocytic 1 [Gene - OMIM - HGNC]
  • SPMIP9:sperm microtubule inner protein 9 [Gene - OMIM - HGNC]
  • STPG4:sperm-tail PG-rich repeat containing 4 [Gene - HGNC]
  • SMPD4:sphingomyelin phosphodiesterase 4 [Gene - OMIM - HGNC]
  • SPRED2:sprouty related EVH1 domain containing 2 [Gene - OMIM - HGNC]
  • SEMA4F:ssemaphorin 4F [Gene - OMIM - HGNC]
  • STON1:stonin 1 [Gene - OMIM - HGNC]
  • SUCLG1:succinate-CoA ligase GDP/ADP-forming subunit alpha [Gene - OMIM - HGNC]
  • SULT1C2:sulfotransferase family 1C member 2 [Gene - OMIM - HGNC]
  • SULT1C3:sulfotransferase family 1C member 3 [Gene - OMIM - HGNC]
  • SULT1C4:sulfotransferase family 1C member 4 [Gene - OMIM - HGNC]
  • SOCS5:suppressor of cytokine signaling 5 [Gene - OMIM - HGNC]
  • SFTPB:surfactant protein B [Gene - OMIM - HGNC]
  • TACR1:tachykinin receptor 1 [Gene - OMIM - HGNC]
  • TEKT4:tektin 4 [Gene - HGNC]
  • TEX261:testis expressed 261 [Gene - OMIM - HGNC]
  • TSGA10:testis specific 10 [Gene - OMIM - HGNC]
  • TET3:tet methylcytosine dioxygenase 3 [Gene - OMIM - HGNC]
  • TTC31:tetratricopeptide repeat domain 31 [Gene - HGNC]
  • TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]
  • TXNDC9:thioredoxin domain containing 9 [Gene - OMIM - HGNC]
  • THNSL2:threonine synthase like 2 [Gene - OMIM - HGNC]
  • THSD7B:thrombospondin type 1 domain containing 7B [Gene - HGNC]
  • TMSB10:thymosin beta 10 [Gene - OMIM - HGNC]
  • TGOLN2:trans-golgi network protein 2 [Gene - OMIM - HGNC]
  • TCF7L1:transcription factor 7 like 1 [Gene - OMIM - HGNC]
  • TFCP2L1:transcription factor CP2 like 1 [Gene - OMIM - HGNC]
  • TGFA:transforming growth factor alpha [Gene - OMIM - HGNC]
  • TGFBRAP1:transforming growth factor beta receptor associated protein 1 [Gene - OMIM - HGNC]
  • TSN:translin [Gene - OMIM - HGNC]
  • TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]
  • TMEM131:transmembrane protein 131 [Gene - OMIM - HGNC]
  • TMEM150A:transmembrane protein 150A [Gene - OMIM - HGNC]
  • TMEM163:transmembrane protein 163 [Gene - OMIM - HGNC]
  • TMEM177:transmembrane protein 177 [Gene - HGNC]
  • TMEM17:transmembrane protein 17 [Gene - OMIM - HGNC]
  • TMEM182:transmembrane protein 182 [Gene - HGNC]
  • TMEM185B:transmembrane protein 185B [Gene - HGNC]
  • TMEM247:transmembrane protein 247 [Gene - HGNC]
  • TMEM37:transmembrane protein 37 [Gene - OMIM - HGNC]
  • TMEM87B:transmembrane protein 87B [Gene - OMIM - HGNC]
  • TRIM43:tripartite motif containing 43 [Gene - HGNC]
  • TRIM43B:tripartite motif containing 43B [Gene - HGNC]
  • TUBA3D:tubulin alpha 3d [Gene - OMIM - HGNC]
  • TUBA3E:tubulin alpha 3e [Gene - OMIM - HGNC]
  • TTL:tubulin tyrosine ligase [Gene - OMIM - HGNC]
  • USP34:ubiquitin specific peptidase 34 [Gene - OMIM - HGNC]
  • USP39:ubiquitin specific peptidase 39 [Gene - OMIM - HGNC]
  • UNC50:unc-50 inner nuclear membrane RNA binding protein [Gene - OMIM - HGNC]
  • VAX2:ventral anterior homeobox 2 [Gene - OMIM - HGNC]
  • VAMP5:vesicle associated membrane protein 5 [Gene - OMIM - HGNC]
  • VAMP8:vesicle associated membrane protein 8 [Gene - OMIM - HGNC]
  • VWA3B:von Willebrand factor A domain containing 3B [Gene - OMIM - HGNC]
  • ZAP70:zeta chain of T cell receptor associated protein kinase 70 [Gene - OMIM - HGNC]
  • ZC3H6:zinc finger CCCH-type containing 6 [Gene - HGNC]
  • ZC3H8:zinc finger CCCH-type containing 8 [Gene - HGNC]
  • ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
  • ZRANB3:zinc finger RANBP2-type containing 3 [Gene - OMIM - HGNC]
  • ZNF2:zinc finger protein 2 [Gene - OMIM - HGNC]
  • ZNF514:zinc finger protein 514 [Gene - HGNC]
  • ZNF638:zinc finger protein 638 [Gene - OMIM - HGNC]
  • ZNF806:zinc finger protein 806 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p22.1-q22.3
Genomic location:
Chr2: 40607042 - 146902764 (on Assembly GRCh37)
Other names:
inv(2)(p23q23)dn
HGVS:
NC_000002.11:g.(40607042_40608411)_(146900718_146902764)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000747864Institute of Cellular and Molecular Medicine, Copenhagen University
no assertion criteria provided
Likely pathogenic
(Feb 2, 2018) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, et al.

Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24.

PubMed [citation]
PMID:
29805044
PMCID:
PMC5992120

Details of each submission

From Institute of Cellular and Molecular Medicine, Copenhagen University, SCV000747864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023