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 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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)delThis HGVS expression did not pass validation
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000747864 | Institute of Cellular and Molecular Medicine, Copenhagen University | no assertion criteria provided | Likely pathogenic (Feb 2, 2018) | de novo | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | de novo | yes | not provided | not provided | not provided | not provided | not provided | research |
Citations
PubMed
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
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | de novo | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 14, 2023