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GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003485022.1

Allele description [Variation Report for GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3]

GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3

Genes:
  • AKAP6:A-kinase anchoring protein 6 [Gene - OMIM - HGNC]
  • ARF6:ADP ribosylation factor 6 [Gene - OMIM - HGNC]
  • ARID4A:AT-rich interaction domain 4A [Gene - OMIM - HGNC]
  • BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
  • BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
  • BRMS1L:BRMS1 like transcriptional repressor [Gene - OMIM - HGNC]
  • CLEC14A:C-type lectin domain containing 14A [Gene - OMIM - HGNC]
  • CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
  • CMTM5:CKLF like MARVEL transmembrane domain containing 5 [Gene - OMIM - HGNC]
  • DTD2:D-aminoacyl-tRNA deacylase 2 [Gene - HGNC]
  • DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]
  • DDHD1:DDHD domain containing 1 [Gene - OMIM - HGNC]
  • DLGAP5:DLG associated protein 5 [Gene - OMIM - HGNC]
  • POLE2:DNA polymerase epsilon 2, accessory subunit [Gene - OMIM - HGNC]
  • EAPP:E2F associated phosphoprotein [Gene - OMIM - HGNC]
  • EMC9:ER membrane protein complex subunit 9 [Gene - HGNC]
  • FBXO33:F-box protein 33 [Gene - OMIM - HGNC]
  • FBXO34:F-box protein 34 [Gene - OMIM - HGNC]
  • FANCM:FA complementation group M [Gene - OMIM - HGNC]
  • FRMD6:FERM domain containing 6 [Gene - OMIM - HGNC]
  • FERMT2:FERM domain containing kindlin 2 [Gene - OMIM - HGNC]
  • FKBP3:FKBP prolyl isomerase 3 [Gene - OMIM - HGNC]
  • GNG2:G protein subunit gamma 2 [Gene - OMIM - HGNC]
  • GPR135:G protein-coupled receptor 135 [Gene - OMIM - HGNC]
  • GPR137C:G protein-coupled receptor 137C [Gene - HGNC]
  • GPR33:G protein-coupled receptor 33 [Gene - OMIM - HGNC]
  • G2E3:G2/M-phase specific E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]
  • HAUS4:HAUS augmin like complex subunit 4 [Gene - OMIM - HGNC]
  • HEATR5A:HEAT repeat containing 5A [Gene - HGNC]
  • HECTD1:HECT domain E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • INSM2:INSM transcriptional repressor 2 [Gene - OMIM - HGNC]
  • JKAMP:JNK1/MAPK8 associated membrane protein [Gene - OMIM - HGNC]
  • KHNYN:KH and NYN domain containing [Gene - OMIM - HGNC]
  • KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
  • L2HGDH:L-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • LRP10:LDL receptor related protein 10 [Gene - OMIM - HGNC]
  • MDGA2:MAM domain containing glycosylphosphatidylinositol anchor 2 [Gene - OMIM - HGNC]
  • MBIP:MAP3K12 binding inhibitory protein 1 [Gene - OMIM - HGNC]
  • MIA2:MIA SH3 domain ER export factor 2 [Gene - OMIM - HGNC]
  • MIS18BP1:MIS18 binding protein 1 [Gene - OMIM - HGNC]
  • MNAT1:MNAT1 component of CDK activating kinase [Gene - OMIM - HGNC]
  • NAA30:N-alpha-acetyltransferase 30, NatC catalytic subunit [Gene - OMIM - HGNC]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • NEDD8:NEDD8 ubiquitin like modifier [Gene - OMIM - HGNC]
  • NEDD8-MDP1:NEDD8-MDP1 readthrough [Gene - HGNC]
  • NFKBIA:NFKB inhibitor alpha [Gene - OMIM - HGNC]
  • NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
  • NKX2-8:NK2 homeobox 8 [Gene - OMIM - HGNC]
  • NOP9:NOP9 nucleolar protein [Gene - OMIM - HGNC]
  • NOVA1:NOVA alternative splicing regulator 1 [Gene - OMIM - HGNC]
  • NUBPL:NUBP iron-sulfur cluster assembly factor, mitochondrial [Gene - OMIM - HGNC]
  • NYNRIN:NYN domain and retroviral integrase containing [Gene - OMIM - HGNC]
  • OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
  • OXA1L:OXA1L mitochondrial inner membrane protein [Gene - OMIM - HGNC]
  • RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REC8:REC8 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBM23:RNA binding motif protein 23 [Gene - HGNC]
  • RN7SL1:RNA component of signal recognition particle 7SL1 [Gene - OMIM - HGNC]
  • RN7SL2:RNA component of signal recognition particle 7SL2 [Gene - OMIM - HGNC]
  • RN7SL3:RNA component of signal recognition particle 7SL3 [Gene - OMIM - HGNC]
  • RTRAF:RNA transcription, translation and transport factor [Gene - OMIM - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • REM2:RRAD and GEM like GTPase 2 [Gene - OMIM - HGNC]
  • RABGGTA:Rab geranylgeranyltransferase subunit alpha [Gene - OMIM - HGNC]
  • RALGAPA1:Ral GTPase activating protein catalytic subunit alpha 1 [Gene - OMIM - HGNC]
  • ARHGAP5:Rho GTPase activating protein 5 [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SEC23A:SEC23 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]
  • SIX4:SIX homeobox 4 [Gene - OMIM - HGNC]
  • SIX6:SIX homeobox 6 [Gene - OMIM - HGNC]
  • SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
  • TBPL2:TATA-box binding protein like 2 [Gene - OMIM - HGNC]
  • TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
  • TOGARAM1:TOG array regulator of axonemal microtubules 1 [Gene - OMIM - HGNC]
  • TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
  • WDHD1:WD repeat and HMG-box DNA binding protein 1 [Gene - OMIM - HGNC]
  • ABHD12B:abhydrolase domain containing 12B [Gene - HGNC]
  • ABHD4:abhydrolase domain containing 4, N-acyl phospholipase B [Gene - OMIM - HGNC]
  • ACTR10:actin related protein 10 [Gene - OMIM - HGNC]
  • AP1G2:adaptor related protein complex 1 subunit gamma 2 [Gene - OMIM - HGNC]
  • AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
  • AP5M1:adaptor related protein complex 5 subunit mu 1 [Gene - OMIM - HGNC]
  • ADCY4:adenylate cyclase 4 [Gene - OMIM - HGNC]
  • AJUBA:ajuba LIM protein [Gene - OMIM - HGNC]
  • MGAT2:alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • ACIN1:apoptotic chromatin condensation inducer 1 [Gene - OMIM - HGNC]
  • APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]
  • ARMH4:armadillo like helical domain containing 4 [Gene - HGNC]
  • ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
  • ATG14:autophagy related 14 [Gene - OMIM - HGNC]
  • BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
  • BAZ1A:bromodomain adjacent to zinc finger domain 1A [Gene - OMIM - HGNC]
  • CDH24:cadherin 24 [Gene - OMIM - HGNC]
  • CARMIL3:capping protein regulator and myosin 1 linker 3 [Gene - OMIM - HGNC]
  • CTSG:cathepsin G [Gene - OMIM - HGNC]
  • CIDEB:cell death inducing DFFA like effector b [Gene - OMIM - HGNC]
  • CGRRF1:cell growth regulator with ring finger domain 1 [Gene - OMIM - HGNC]
  • CBLN3:cerebellin 3 precursor [Gene - OMIM - HGNC]
  • CHMP4A:charged multivesicular body protein 4A [Gene - OMIM - HGNC]
  • CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
  • C14orf119:chromosome 14 open reading frame 119 [Gene - HGNC]
  • C14orf28:chromosome 14 open reading frame 28 [Gene - HGNC]
  • C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]
  • C14orf93:chromosome 14 open reading frame 93 [Gene - HGNC]
  • CMA1:chymase 1 [Gene - OMIM - HGNC]
  • COCH:cochlin [Gene - OMIM - HGNC]
  • CFL2:cofilin 2 [Gene - OMIM - HGNC]
  • CCDC175:coiled-coil domain containing 175 [Gene - HGNC]
  • CCDC198:coiled-coil domain containing 198 [Gene - HGNC]
  • CPNE6:copine 6 [Gene - OMIM - HGNC]
  • CNIH1:cornichon family AMPA receptor auxiliary protein 1 [Gene - OMIM - HGNC]
  • CCNB1IP1:cyclin B1 interacting protein 1 [Gene - OMIM - HGNC]
  • CDKN3:cyclin dependent kinase inhibitor 3 [Gene - OMIM - HGNC]
  • CDKL1:cyclin dependent kinase like 1 [Gene - OMIM - HGNC]
  • DAD1:defender against cell death 1 [Gene - OMIM - HGNC]
  • DHRS1:dehydrogenase/reductase 1 [Gene - OMIM - HGNC]
  • DHRS2:dehydrogenase/reductase 2 [Gene - OMIM - HGNC]
  • DHRS4L1:dehydrogenase/reductase 4 like 1 [Gene - OMIM - HGNC]
  • DHRS4L2:dehydrogenase/reductase 4 like 2 [Gene - OMIM - HGNC]
  • DHRS4:dehydrogenase/reductase 4 [Gene - OMIM - HGNC]
  • DHRS7:dehydrogenase/reductase 7 [Gene - OMIM - HGNC]
  • DAAM1:dishevelled associated activator of morphogenesis 1 [Gene - OMIM - HGNC]
  • DACT1:dishevelled binding antagonist of beta catenin 1 [Gene - OMIM - HGNC]
  • DMAC2L:distal membrane arm assembly component 2 like [Gene - OMIM - HGNC]
  • DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]
  • EGLN3:egl-9 family hypoxia inducible factor 3 [Gene - OMIM - HGNC]
  • EFS:embryonal Fyn-associated substrate [Gene - OMIM - HGNC]
  • ERO1A:endoplasmic reticulum oxidoreductase 1 alpha [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • EXOC5:exocyst complex component 5 [Gene - OMIM - HGNC]
  • FAM177A1:family with sequence similarity 177 member A1 [Gene - OMIM - HGNC]
  • FITM1:fat storage inducing transmembrane protein 1 [Gene - OMIM - HGNC]
  • FSCB:fibrous sheath CABYR binding protein [Gene - OMIM - HGNC]
  • FOXA1:forkhead box A1 [Gene - OMIM - HGNC]
  • FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
  • LGALS3:galectin 3 [Gene - OMIM - HGNC]
  • GEMIN2:gem nuclear organelle associated protein 2 [Gene - OMIM - HGNC]
  • GMFB:glia maturation factor beta [Gene - OMIM - HGNC]
  • GNPNAT1:glucosamine-phosphate N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • PYGL:glycogen phosphorylase L [Gene - OMIM - HGNC]
  • GZMB:granzyme B [Gene - OMIM - HGNC]
  • GZMH:granzyme H [Gene - OMIM - HGNC]
  • GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • HOMEZ:homeobox and leucine zipper encoding [Gene - OMIM - HGNC]
  • IPO4:importin 4 [Gene - HGNC]
  • IRF9:interferon regulatory factor 9 [Gene - OMIM - HGNC]
  • IL25:interleukin 25 [Gene - OMIM - HGNC]
  • JPH4:junctophilin 4 [Gene - OMIM - HGNC]
  • KLHDC1:kelch domain containing 1 [Gene - OMIM - HGNC]
  • KLHDC2:kelch domain containing 2 [Gene - OMIM - HGNC]
  • KLHL28:kelch like family member 28 [Gene - HGNC]
  • KLHL33:kelch like family member 33 [Gene - HGNC]
  • KTN1:kinectin 1 [Gene - OMIM - HGNC]
  • LRFN5:leucine rich repeat and fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • LRR1:leucine rich repeat protein 1 [Gene - OMIM - HGNC]
  • LTB4R2:leukotriene B4 receptor 2 [Gene - OMIM - HGNC]
  • LTB4R:leukotriene B4 receptor [Gene - OMIM - HGNC]
  • LINC01588:long intergenic non-protein coding RNA 1588 [Gene - HGNC]
  • LINC01599:long intergenic non-protein coding RNA 1599 [Gene - HGNC]
  • MDP1:magnesium dependent phosphatase 1 [Gene - HGNC]
  • MMP14:matrix metallopeptidase 14 [Gene - OMIM - HGNC]
  • METTL3:methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit [Gene - OMIM - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • MIR208A:microRNA 208a [Gene - OMIM - HGNC]
  • MIR208B:microRNA 208b [Gene - OMIM - HGNC]
  • MIPOL1:mirror-image polydactyly 1 [Gene - OMIM - HGNC]
  • MRPL52:mitochondrial ribosomal protein L52 [Gene - OMIM - HGNC]
  • MAPK1IP1L:mitogen-activated protein kinase 1 interacting protein 1 like [Gene - OMIM - HGNC]
  • MAP4K5:mitogen-activated protein kinase kinase kinase kinase 5 [Gene - OMIM - HGNC]
  • MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
  • MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
  • NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
  • NGDN:neuroguidin [Gene - OMIM - HGNC]
  • NPAS3:neuronal PAS domain protein 3 [Gene - OMIM - HGNC]
  • NID2:nidogen 2 [Gene - OMIM - HGNC]
  • NIN:ninein [Gene - OMIM - HGNC]
  • NEMF:nuclear export mediator factor [Gene - OMIM - HGNC]
  • NFATC4:nuclear factor of activated T cells 4 [Gene - OMIM - HGNC]
  • OR10G2:olfactory receptor family 10 subfamily G member 2 [Gene - HGNC]
  • OR10G3:olfactory receptor family 10 subfamily G member 3 [Gene - HGNC]
  • OR11G2:olfactory receptor family 11 subfamily G member 2 [Gene - HGNC]
  • OR11H4:olfactory receptor family 11 subfamily H member 4 [Gene - HGNC]
  • OR11H6:olfactory receptor family 11 subfamily H member 6 [Gene - HGNC]
  • OR4E2:olfactory receptor family 4 subfamily E member 2 [Gene - HGNC]
  • OR4K17:olfactory receptor family 4 subfamily K member 17 [Gene - HGNC]
  • OR4L1:olfactory receptor family 4 subfamily L member 1 [Gene - HGNC]
  • OR4N5:olfactory receptor family 4 subfamily N member 5 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • OR6S1:olfactory receptor family 6 subfamily S member 1 [Gene - HGNC]
  • OTX2:orthodenticle homeobox 2 [Gene - OMIM - HGNC]
  • PAX9:paired box 9 [Gene - OMIM - HGNC]
  • PTCSC3:papillary thyroid carcinoma susceptibility candidate 3 [Gene - OMIM - HGNC]
  • PCNX4:pecanex 4 [Gene - HGNC]
  • PELI2:pellino E3 ubiquitin protein ligase family member 2 [Gene - OMIM - HGNC]
  • PIP4P1:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [Gene - OMIM - HGNC]
  • PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
  • PNN:pinin, desmosome associated protein [Gene - OMIM - HGNC]
  • PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]
  • PARP2:poly(ADP-ribose) polymerase 2 [Gene - OMIM - HGNC]
  • PRPF39:pre-mRNA processing factor 39 [Gene - OMIM - HGNC]
  • PTGDR:prostaglandin D2 receptor [Gene - OMIM - HGNC]
  • PTGER2:prostaglandin E receptor 2 [Gene - OMIM - HGNC]
  • PSMA3:proteasome 20S subunit alpha 3 [Gene - OMIM - HGNC]
  • PSMA6:proteasome 20S subunit alpha 6 [Gene - OMIM - HGNC]
  • PSMB5:proteasome 20S subunit beta 5 [Gene - OMIM - HGNC]
  • PSMC6:proteasome 26S subunit, ATPase 6 [Gene - OMIM - HGNC]
  • PSME1:proteasome activator subunit 1 [Gene - OMIM - HGNC]
  • PSME2:proteasome activator subunit 2 [Gene - OMIM - HGNC]
  • PSMB11:proteasome subunit beta 11 [Gene - OMIM - HGNC]
  • PRMT5:protein arginine methyltransferase 5 [Gene - OMIM - HGNC]
  • PRKCH:protein kinase C eta [Gene - OMIM - HGNC]
  • PRKD1:protein kinase D1 [Gene - OMIM - HGNC]
  • PRORP:protein only RNase P catalytic subunit [Gene - OMIM - HGNC]
  • PPP1R3E:protein phosphatase 1 regulatory subunit 3E [Gene - OMIM - HGNC]
  • PPP2R3C:protein phosphatase 2 regulatory subunit B''gamma [Gene - OMIM - HGNC]
  • PPM1A:protein phosphatase, Mg2+/Mn2+ dependent 1A [Gene - OMIM - HGNC]
  • PNP:purine nucleoside phosphorylase [Gene - OMIM - HGNC]
  • RIPK3:receptor interacting serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • RTN1:reticulon 1 [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE10:ribonuclease A family member 10 (inactive) [Gene - HGNC]
  • RNASE11:ribonuclease A family member 11 (inactive) [Gene - HGNC]
  • RNASE12:ribonuclease A family member 12 (inactive) [Gene - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE9:ribonuclease A family member 9 (inactive) [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RPPH1:ribonuclease P RNA component H1 [Gene - OMIM - HGNC]
  • RPL10L:ribosomal protein L10 like [Gene - OMIM - HGNC]
  • RPL36AL:ribosomal protein L36a like [Gene - OMIM - HGNC]
  • RPS29:ribosomal protein S29 [Gene - OMIM - HGNC]
  • RNF212B:ring finger protein 212B [Gene - HGNC]
  • RNF31:ring finger protein 31 [Gene - OMIM - HGNC]
  • SAV1:salvador family WW domain containing protein 1 [Gene - OMIM - HGNC]
  • SCFD1:sec1 family domain containing 1 [Gene - OMIM - HGNC]
  • SPTSSA:serine palmitoyltransferase small subunit A [Gene - OMIM - HGNC]
  • STYX:serine/threonine/tyrosine interacting protein [Gene - OMIM - HGNC]
  • SDR39U1:short chain dehydrogenase/reductase family 39U member 1 [Gene - OMIM - HGNC]
  • SRP54:signal recognition particle 54 [Gene - OMIM - HGNC]
  • SLC22A17:solute carrier family 22 member 17 [Gene - OMIM - HGNC]
  • SLC25A21:solute carrier family 25 member 21 [Gene - OMIM - HGNC]
  • SLC35F4:solute carrier family 35 member F4 [Gene - HGNC]
  • SLC38A6:solute carrier family 38 member 6 [Gene - OMIM - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]
  • SLC7A8:solute carrier family 7 member 8 [Gene - OMIM - HGNC]
  • SSTR1:somatostatin receptor 1 [Gene - OMIM - HGNC]
  • SNX6:sorting nexin 6 [Gene - OMIM - HGNC]
  • SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
  • SAMD4A:sterile alpha motif domain containing 4A [Gene - OMIM - HGNC]
  • STRN3:striatin 3 [Gene - OMIM - HGNC]
  • SOCS4:suppressor of cytokine signaling 4 [Gene - OMIM - HGNC]
  • SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
  • STXBP6:syntaxin binding protein 6 [Gene - OMIM - HGNC]
  • TRMT5:tRNA methyltransferase 5 [Gene - OMIM - HGNC]
  • TRL-AAG2-3:tRNA-Leu (anticodon AAG) 2-3 [Gene - OMIM - HGNC]
  • TRP-AGG2-5:tRNA-Pro (anticodon AGG) 2-5 [Gene - OMIM - HGNC]
  • TRP-AGG2-6:tRNA-Pro (anticodon AGG) 2-6 [Gene - OMIM - HGNC]
  • TRT-TGT3-1:tRNA-Thr (anticodon TGT) 3-1 [Gene - OMIM - HGNC]
  • TEP1:telomerase associated protein 1 [Gene - OMIM - HGNC]
  • TSSK4:testis specific serine kinase 4 [Gene - OMIM - HGNC]
  • TTC5:tetratricopeptide repeat domain 5 [Gene - OMIM - HGNC]
  • TTC6:tetratricopeptide repeat domain 6 [Gene - HGNC]
  • THTPA:thiamine triphosphatase [Gene - OMIM - HGNC]
  • TXNDC16:thioredoxin domain containing 16 [Gene - OMIM - HGNC]
  • TMX1:thioredoxin related transmembrane protein 1 [Gene - OMIM - HGNC]
  • TRAPPC6B:trafficking protein particle complex subunit 6B [Gene - OMIM - HGNC]
  • L3HYPDH:trans-L-3-hydroxyproline dehydratase [Gene - OMIM - HGNC]
  • TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
  • TIMM9:translocase of inner mitochondrial membrane 9 [Gene - OMIM - HGNC]
  • TOMM20L:translocase of outer mitochondrial membrane 20 like [Gene - HGNC]
  • TM9SF1:transmembrane 9 superfamily member 1 [Gene - OMIM - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TMEM260:transmembrane protein 260 [Gene - OMIM - HGNC]
  • TMEM30B:transmembrane protein 30B [Gene - OMIM - HGNC]
  • TRIM9:tripartite motif containing 9 [Gene - OMIM - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • VCPKMT:valosin containing protein lysine methyltransferase [Gene - OMIM - HGNC]
  • ZFHX2:zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q11.2-23.1
Genomic location:
Chr14: 20511673 - 61826023 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004230771Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Jun 3, 2023)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004230771.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    This copy number gain of 14q11.2q23.1 involves numerous protein-coding genes. Heterozygous duplications contained within the 14q11.2q23.1 region have been identified in multiple individuals with severe neurological impairments, seizures, and variable facial dysmorphisms (Yeung 2009, Cetin 2018, Wannenmacher 2016, Cetin 2018, Wannenmacher 2016). Thus, based on current medical literature and gene number, this copy number variant (CNV) is classified as pathogenic. References: Cetin et al., Epileptic Disord. 2018 Jun 1;20(3):219-224. PMID: 29905153 Wannenmacher et al., J Pediatr Endocrinol Metab. 2016 May 1;29(5):611-6. PMID: 26824977 Yeung et al., Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. PMID: 19772934

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Feb 4, 2024