GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053524.3

Allele description [Variation Report for ]

GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1

Genes:
  • FBN2:fibrillin 2 [Gene - OMIM]
  • FER:fer (fps/fes related) tyrosine kinase [Gene - OMIM]
  • FGF1:fibroblast growth factor 1 (acidic) [Gene - OMIM]
  • GDF9:growth differentiation factor 9 [Gene - OMIM]
  • GFRA3:GDNF family receptor alpha 3 [Gene - OMIM]
  • GLRA1:glycine receptor, alpha 1 [Gene - OMIM]
  • GM2A:GM2 ganglioside activator [Gene - OMIM]
  • GPX3:glutathione peroxidase 3 [Gene - OMIM]
  • GRIA1:glutamate receptor, ionotropic, AMPA 1 [Gene - OMIM]
  • NR3C1:nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) [Gene - OMIM]
  • HARS:histidyl-tRNA synthetase [Gene - OMIM]
  • HINT1:histidine triad nucleotide binding protein 1 [Gene - OMIM]
  • HSD17B4:hydroxysteroid (17-beta) dehydrogenase 4 [Gene - OMIM]
  • HSPA4:heat shock 70kDa protein 4 [Gene - OMIM]
  • HSPA9:heat shock 70kDa protein 9 (mortalin) [Gene - OMIM]
  • NDST1:N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 [Gene - OMIM]
  • HTR4:5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled [Gene - OMIM]
  • IK:IK cytokine, down-regulator of HLA II [Gene - OMIM]
  • IL3:interleukin 3 [Gene - OMIM]
  • IL4:interleukin 4 [Gene - OMIM]
  • IL5:interleukin 5 [Gene - OMIM]
  • IL9:interleukin 9 [Gene - OMIM]
  • IL13:interleukin 13 [Gene - OMIM]
  • IRF1:interferon regulatory factor 1 [Gene - OMIM]
  • KCNN2:potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2 [Gene - OMIM]
  • LECT2:leukocyte cell-derived chemotaxin 2 [Gene - OMIM]
  • LMNB1:lamin B1 [Gene - OMIM]
  • LOX:lysyl oxidase [Gene - OMIM]
  • SMAD5:SMAD family member 5 [Gene - OMIM]
  • MAN2A1:mannosidase, alpha, class 2A, member 1 [Gene - OMIM]
  • MCC:mutated in colorectal cancers [Gene - OMIM]
  • MFAP3:microfibrillar-associated protein 3 [Gene - OMIM]
  • NDUFA2:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa [Gene - OMIM]
  • NEUROG1:neurogenin 1 [Gene - OMIM]
  • NPY6R:neuropeptide Y receptor Y6 (pseudogene) [Gene - OMIM]
  • PCDH1:protocadherin 1 [Gene - OMIM]
  • PCDHGC3:protocadherin gamma subfamily C, 3 [Gene - OMIM]
  • PDE6A:phosphodiesterase 6A, cGMP-specific, rod, alpha [Gene - OMIM]
  • PDGFRB:platelet-derived growth factor receptor, beta polypeptide [Gene - OMIM]
  • PFDN1:prefoldin subunit 1 [Gene - OMIM]
  • PGGT1B:protein geranylgeranyltransferase type I, beta subunit [Gene - OMIM]
  • PITX1:paired-like homeodomain 1 [Gene - OMIM]
  • POU4F3:POU class 4 homeobox 3 [Gene - OMIM]
  • PPIC:peptidylprolyl isomerase C (cyclophilin C) [Gene - OMIM]
  • PPP2CA:protein phosphatase 2, catalytic subunit, alpha isozyme [Gene - OMIM]
  • PPP2R2B:protein phosphatase 2, regulatory subunit B, beta [Gene - OMIM]
  • PURA:purine-rich element binding protein A [Gene - OMIM]
  • RPS14:ribosomal protein S14 [Gene - OMIM]
  • RPS20P3:ribosomal protein S20 pseudogene 3 [Gene - OMIM]
  • RPS20P4:ribosomal protein S20 pseudogene 4 [Gene - OMIM]
  • SGCD:sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) [Gene - OMIM]
  • SKP1:S-phase kinase-associated protein 1 [Gene - OMIM]
  • SLC6A7:solute carrier family 6 (neurotransmitter transporter), member 7 [Gene - OMIM]
  • SLC12A2:solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [Gene - OMIM]
  • SLC22A4:solute carrier family 22 (organic cation/zwitterion transporter), member 4 [Gene - OMIM]
  • SLC22A5:solute carrier family 22 (organic cation/carnitine transporter), member 5 [Gene - OMIM]
  • SNX2:sorting nexin 2 [Gene - OMIM]
  • SPARC:secreted protein, acidic, cysteine-rich (osteonectin) [Gene - OMIM]
  • SPINK1:serine peptidase inhibitor, Kazal type 1 [Gene - OMIM]
  • SPOCK1:sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 [Gene - OMIM]
  • SRP19:signal recognition particle 19kDa [Gene - OMIM]
  • TAF7:TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa [Gene - OMIM]
  • TCF7:transcription factor 7 (T-cell specific, HMG-box) [Gene - OMIM]
  • TCOF1:Treacher Collins-Franceschetti syndrome 1 [Gene - OMIM]
  • TGFBI:transforming growth factor, beta-induced, 68kDa [Gene - OMIM]
  • ZRSR1:zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 [Gene - OMIM]
  • UBE2B:ubiquitin-conjugating enzyme E2B [Gene - OMIM]
  • UBE2D2:ubiquitin-conjugating enzyme E2D 2 [Gene - OMIM]
  • VDAC1:voltage-dependent anion channel 1 [Gene - OMIM]
  • WNT8A:wingless-type MMTV integration site family, member 8A [Gene - OMIM]
  • REEP5:receptor accessory protein 5 [Gene - OMIM]
  • NME5:NME/NM23 family member 5 [Gene - OMIM]
  • PDLIM4:PDZ and LIM domain 4 [Gene - OMIM]
  • EIF4EBP3:eukaryotic translation initiation factor 4E binding protein 3 [Gene - OMIM]
  • PCDHGB4:protocadherin gamma subfamily B, 4 [Gene - OMIM]
  • CDC23:cell division cycle 23 [Gene - OMIM]
  • HDAC3:histone deacetylase 3 [Gene - OMIM]
  • P4HA2:prolyl 4-hydroxylase, alpha polypeptide II [Gene - OMIM]
  • ATG12:autophagy related 12 [Gene - OMIM]
  • NREP:neuronal regeneration related protein [Gene - OMIM]
  • CNOT8:CCR4-NOT transcription complex, subunit 8 [Gene - OMIM]
  • HAND1:heart and neural crest derivatives expressed 1 [Gene - OMIM]
  • MYOT:myotilin [Gene - OMIM]
  • NRG2:neuregulin 2 [Gene - OMIM]
  • CXCL14:chemokine (C-X-C motif) ligand 14 [Gene - OMIM]
  • H2AFY:H2A histone family, member Y [Gene - OMIM]
  • SMAD5-AS1:SMAD5 antisense RNA 1 [Gene]
  • RNF14:ring finger protein 14 [Gene - OMIM]
  • SNCAIP:synuclein, alpha interacting protein [Gene - OMIM]
  • PCDHGA8:protocadherin gamma subfamily A, 8 [Gene - OMIM]
  • PCDHA9:protocadherin alpha 9 [Gene - OMIM]
  • MATR3:matrin 3 [Gene - OMIM]
  • JAKMIP2:janus kinase and microtubule interacting protein 2 [Gene - OMIM]
  • PJA2:praja ring finger 2, E3 ubiquitin protein ligase [Gene]
  • DDX46:DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 [Gene]
  • SLC23A1:solute carrier family 23 (ascorbic acid transporter), member 1 [Gene - OMIM]
  • GNPDA1:glucosamine-6-phosphate deaminase 1 [Gene - OMIM]
  • SRA1:steroid receptor RNA activator 1 [Gene - OMIM]
  • RAD50:RAD50 homolog (S. cerevisiae) [Gene - OMIM]
  • KIF20A:kinesin family member 20A [Gene - OMIM]
  • G3BP1:GTPase activating protein (SH3 domain) binding protein 1 [Gene - OMIM]
  • APBB3:amyloid beta (A4) precursor protein-binding, family B, member 3 [Gene - OMIM]
  • TNIP1:TNFAIP3 interacting protein 1 [Gene - OMIM]
  • SEC24A:SEC24 family member A [Gene - OMIM]
  • FAXDC2:fatty acid hydroxylase domain containing 2 [Gene]
  • FAM114A2:family with sequence similarity 114, member A2 [Gene]
  • BRD8:bromodomain containing 8 [Gene - OMIM]
  • TCERG1:transcription elongation regulator 1 [Gene - OMIM]
  • HNRNPA0:heterogeneous nuclear ribonucleoprotein A0 [Gene - OMIM]
  • SPINK5:serine peptidase inhibitor, Kazal type 5 [Gene - OMIM]
  • KIF3A:kinesin family member 3A [Gene - OMIM]
  • SYNPO:synaptopodin [Gene - OMIM]
  • ABLIM3:actin binding LIM protein family, member 3 [Gene - OMIM]
  • HMGXB3:HMG box domain containing 3 [Gene]
  • ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM]
  • FSTL4:follistatin-like 4 [Gene]
  • SEPT8:septin 8 [Gene - OMIM]
  • ACSL6:acyl-CoA synthetase long-chain family member 6 [Gene - OMIM]
  • JADE2:jade family PHD finger 2 [Gene - OMIM]
  • LARP1:La ribonucleoprotein domain family, member 1 [Gene - OMIM]
  • HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM]
  • TNFAIP8:tumor necrosis factor, alpha-induced protein 8 [Gene - OMIM]
  • GEMIN5:gem (nuclear organelle) associated protein 5 [Gene - OMIM]
  • PCDHGA12:protocadherin gamma subfamily A, 12 [Gene - OMIM]
  • LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM]
  • CCDC69:coiled-coil domain containing 69 [Gene]
  • PCDHB5:protocadherin beta 5 [Gene - OMIM]
  • FBXL21:F-box and leucine-rich repeat protein 21 (gene/pseudogene) [Gene - OMIM]
  • KLHL3:kelch-like family member 3 [Gene - OMIM]
  • SNORD63:small nucleolar RNA, C/D box 63 [Gene]
  • SNORA74A:small nucleolar RNA, H/ACA box 74A [Gene]
  • PKD2L2:polycystic kidney disease 2-like 2 [Gene - OMIM]
  • UQCRQ:ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa [Gene - OMIM]
  • AFF4:AF4/FMR2 family, member 4 [Gene - OMIM]
  • IL17B:interleukin 17B [Gene - OMIM]
  • SLC27A6:solute carrier family 27 (fatty acid transporter), member 6 [Gene - OMIM]
  • SNX24:sorting nexin 24 [Gene]
  • MRPL22:mitochondrial ribosomal protein L22 [Gene - OMIM]
  • PCDHB1:protocadherin beta 1 [Gene - OMIM]
  • TMED7:transmembrane emp24 protein transport domain containing 7 [Gene]
  • ISOC1:isochorismatase domain containing 1 [Gene]
  • SAR1B:secretion associated, Ras related GTPase 1B [Gene - OMIM]
  • DCTN4:dynactin 4 (p62) [Gene - OMIM]
  • MZB1:marginal zone B and B1 cell-specific protein [Gene - OMIM]
  • PAIP2:poly(A) binding protein interacting protein 2 [Gene - OMIM]
  • CDKL3:cyclin-dependent kinase-like 3 [Gene - OMIM]
  • PCDH12:protocadherin 12 [Gene - OMIM]
  • FAM13B:family with sequence similarity 13, member B [Gene - OMIM]
  • FAM53C:family with sequence similarity 53, member C [Gene - OMIM]
  • REEP2:receptor accessory protein 2 [Gene - OMIM]
  • PRR16:proline rich 16 [Gene - OMIM]
  • COMMD10:COMM domain containing 10 [Gene]
  • LARS:leucyl-tRNA synthetase [Gene - OMIM]
  • CXXC5:CXXC finger protein 5 [Gene - OMIM]
  • RAPGEF6:Rap guanine nucleotide exchange factor (GEF) 6 [Gene - OMIM]
  • KDM3B:lysine (K)-specific demethylase 3B [Gene - OMIM]
  • PHAX:phosphorylated adaptor for RNA export [Gene - OMIM]
  • RBM27:RNA binding motif protein 27 [Gene]
  • EPB41L4A-AS2:EPB41L4A antisense RNA 2 (head to head) [Gene]
  • ZCCHC10:zinc finger, CCHC domain containing 10 [Gene]
  • WDR55:WD repeat domain 55 [Gene]
  • ANKHD1:ankyrin repeat and KH domain containing 1 [Gene - OMIM]
  • TMCO6:transmembrane and coiled-coil domains 6 [Gene]
  • TRIM36:tripartite motif containing 36 [Gene - OMIM]
  • GALNT10:polypeptide N-acetylgalactosaminyltransferase 10 [Gene - OMIM]
  • RBM22:RNA binding motif protein 22 [Gene - OMIM]
  • PCDHGC5:protocadherin gamma subfamily C, 5 [Gene - OMIM]
  • PCDHGC4:protocadherin gamma subfamily C, 4 [Gene - OMIM]
  • PCDHGB7:protocadherin gamma subfamily B, 7 [Gene - OMIM]
  • PCDHGB6:protocadherin gamma subfamily B, 6 [Gene - OMIM]
  • PCDHGB5:protocadherin gamma subfamily B, 5 [Gene - OMIM]
  • PCDHGB3:protocadherin gamma subfamily B, 3 [Gene - OMIM]
  • PCDHGB2:protocadherin gamma subfamily B, 2 [Gene - OMIM]
  • PCDHGB1:protocadherin gamma subfamily B, 1 [Gene - OMIM]
  • PCDHGA11:protocadherin gamma subfamily A, 11 [Gene - OMIM]
  • PCDHGA10:protocadherin gamma subfamily A, 10 [Gene - OMIM]
  • PCDHGA9:protocadherin gamma subfamily A, 9 [Gene - OMIM]
  • PCDHGA7:protocadherin gamma subfamily A, 7 [Gene - OMIM]
  • PCDHGA6:protocadherin gamma subfamily A, 6 [Gene - OMIM]
  • PCDHGA5:protocadherin gamma subfamily A, 5 [Gene - OMIM]
  • PCDHGA4:protocadherin gamma subfamily A, 4 [Gene - OMIM]
  • PCDHGA3:protocadherin gamma subfamily A, 3 [Gene - OMIM]
  • PCDHGA2:protocadherin gamma subfamily A, 2 [Gene - OMIM]
  • PCDHGA1:protocadherin gamma subfamily A, 1 [Gene - OMIM]
  • PCDHG@:protocadherin gamma cluster [Gene - OMIM]
  • PCDHB@:protocadherin beta cluster [Gene - OMIM]
  • PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM]
  • PCDHACT:protocadherin alpha constant [Gene]
  • PCDHB15:protocadherin beta 15 [Gene - OMIM]
  • PCDHB14:protocadherin beta 14 [Gene - OMIM]
  • PCDHB13:protocadherin beta 13 [Gene - OMIM]
  • PCDHB12:protocadherin beta 12 [Gene - OMIM]
  • PCDHB11:protocadherin beta 11 [Gene - OMIM]
  • PCDHB10:protocadherin beta 10 [Gene - OMIM]
  • PCDHB9:protocadherin beta 9 [Gene - OMIM]
  • PCDHB8:protocadherin beta 8 [Gene - OMIM]
  • PCDHB7:protocadherin beta 7 [Gene - OMIM]
  • PCDHB6:protocadherin beta 6 [Gene - OMIM]
  • PCDHB4:protocadherin beta 4 [Gene - OMIM]
  • PCDHB3:protocadherin beta 3 [Gene - OMIM]
  • PCDHB2:protocadherin beta 2 [Gene - OMIM]
  • PCDHAC2:protocadherin alpha subfamily C, 2 [Gene - OMIM]
  • PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM]
  • PCDHA13:protocadherin alpha 13 [Gene - OMIM]
  • PCDHA12:protocadherin alpha 12 [Gene - OMIM]
  • PCDHA11:protocadherin alpha 11 [Gene - OMIM]
  • PCDHA10:protocadherin alpha 10 [Gene - OMIM]
  • PCDHA8:protocadherin alpha 8 [Gene - OMIM]
  • PCDHA7:protocadherin alpha 7 [Gene - OMIM]
  • PCDHA6:protocadherin alpha 6 [Gene - OMIM]
  • PCDHA5:protocadherin alpha 5 [Gene - OMIM]
  • PCDHA4:protocadherin alpha 4 [Gene - OMIM]
  • PCDHA3:protocadherin alpha 3 [Gene - OMIM]
  • PCDHA2:protocadherin alpha 2 [Gene - OMIM]
  • PCDHA1:protocadherin alpha 1 [Gene - OMIM]
  • VTRNA1-3:vault RNA 1-3 [Gene - OMIM]
  • VTRNA1-2:vault RNA 1-2 [Gene - OMIM]
  • VTRNA1-1:vault RNA 1-1 [Gene - OMIM]
  • NMUR2:neuromedin U receptor 2 [Gene - OMIM]
  • FEM1C:fem-1 homolog c (C. elegans) [Gene - OMIM]
  • C5orf15:chromosome 5 open reading frame 15 [Gene]
  • CDC42SE2:CDC42 small effector 2 [Gene]
  • TRPC7:transient receptor potential cation channel, subfamily C, member 7 [Gene]
  • ZNF608:zinc finger protein 608 [Gene]
  • KCTD16:potassium channel tetramerization domain containing 16 [Gene - OMIM]
  • SEMA6A:sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A [Gene - OMIM]
  • PCDHB16:protocadherin beta 16 [Gene - OMIM]
  • HMHB1:histocompatibility (minor) HB-1 [Gene - OMIM]
  • EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM]
  • SIL1:SIL1 nucleotide exchange factor [Gene - OMIM]
  • ARAP3:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Gene - OMIM]
  • FBXL17:F-box and leucine-rich repeat protein 17 [Gene - OMIM]
  • YTHDC2:YTH domain containing 2 [Gene]
  • GRAMD3:GRAM domain containing 3 [Gene]
  • PCYOX1L:prenylcysteine oxidase 1 like [Gene]
  • SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM]
  • SAP30L:SAP30-like [Gene - OMIM]
  • TXNDC15:thioredoxin domain containing 15 [Gene]
  • NDFIP1:Nedd4 family interacting protein 1 [Gene - OMIM]
  • FBXO38:F-box protein 38 [Gene - OMIM]
  • YIPF5:Yip1 domain family, member 5 [Gene - OMIM]
  • TIGD6:tigger transposable element derived 6 [Gene]
  • SPRY4:sprouty homolog 4 (Drosophila) [Gene - OMIM]
  • SLC4A9:solute carrier family 4, sodium bicarbonate cotransporter, member 9 [Gene - OMIM]
  • SLC25A2:solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 [Gene - OMIM]
  • TSSK1B:testis-specific serine kinase 1B [Gene - OMIM]
  • PCBD2:pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 [Gene - OMIM]
  • PSD2:pleckstrin and Sec7 domain containing 2 [Gene]
  • CYSTM1:cysteine-rich transmembrane module containing 1 [Gene]
  • MEGF10:multiple EGF-like-domains 10 [Gene - OMIM]
  • SPINK7:serine peptidase inhibitor, Kazal type 7 (putative) [Gene]
  • SMIM3:small integral membrane protein 3 [Gene - OMIM]
  • TSLP:thymic stromal lymphopoietin [Gene - OMIM]
  • FCHSD1:FCH and double SH3 domains 1 [Gene]
  • LYRM7:LYR motif containing 7 [Gene - OMIM]
  • SLC25A46:solute carrier family 25, member 46 [Gene - OMIM]
  • CDKN2AIPNL:CDKN2A interacting protein N-terminal like [Gene]
  • ZNF300:zinc finger protein 300 [Gene - OMIM]
  • MYOZ3:myozenin 3 [Gene - OMIM]
  • PRDM6:PR domain containing 6 [Gene]
  • FTMT:ferritin mitochondrial [Gene - OMIM]
  • FNIP1:folliculin interacting protein 1 [Gene - OMIM]
  • SLC35A4:solute carrier family 35, member A4 [Gene]
  • EPB41L4A-AS1:EPB41L4A antisense RNA 1 [Gene]
  • MARCH3:membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase [Gene - OMIM]
  • LEAP2:liver expressed antimicrobial peptide 2 [Gene - OMIM]
  • SCGB3A2:secretoglobin, family 3A, member 2 [Gene - OMIM]
  • PPARGC1B:peroxisome proliferator-activated receptor gamma, coactivator 1 beta [Gene - OMIM]
  • PRRC1:proline-rich coiled-coil 1 [Gene]
  • ZNF474:zinc finger protein 474 [Gene]
  • AFAP1L1:actin filament associated protein 1-like 1 [Gene - OMIM]
  • GRPEL2:GrpE-like 2, mitochondrial (E. coli) [Gene]
  • GPR151:G protein-coupled receptor 151 [Gene]
  • STARD4:StAR-related lipid transfer (START) domain containing 4 [Gene - OMIM]
  • WDR36:WD repeat domain 36 [Gene - OMIM]
  • SOWAHA:sosondowah ankyrin repeat domain family member A [Gene]
  • SHROOM1:shroom family member 1 [Gene - OMIM]
  • C5orf24:chromosome 5 open reading frame 24 [Gene]
  • ADRB2:adrenoceptor beta 2, surface [Gene - OMIM]
  • ANXA6:annexin A6 [Gene - OMIM]
  • APC:adenomatous polyposis coli [Gene - OMIM]
  • ATOX1:antioxidant 1 copper chaperone [Gene - OMIM]
  • ALDH7A1:aldehyde dehydrogenase 7 family, member A1 [Gene - OMIM]
  • CAMK4:calcium/calmodulin-dependent protein kinase IV [Gene - OMIM]
  • CAMK2A:calcium/calmodulin-dependent protein kinase II alpha [Gene - OMIM]
  • CAMLG:calcium modulating ligand [Gene - OMIM]
  • CD14:CD14 molecule [Gene - OMIM]
  • CD74:CD74 molecule, major histocompatibility complex, class II invariant chain [Gene - OMIM]
  • CDC25C:cell division cycle 25C [Gene - OMIM]
  • CDO1:cysteine dioxygenase type 1 [Gene - OMIM]
  • CDX1:caudal type homeobox 1 [Gene - OMIM]
  • AP3S1:adaptor-related protein complex 3, sigma 1 subunit [Gene - OMIM]
  • CSF1R:colony stimulating factor 1 receptor [Gene - OMIM]
  • CSF2:colony stimulating factor 2 (granulocyte-macrophage) [Gene - OMIM]
  • CSNK1A1:casein kinase 1, alpha 1 [Gene - OMIM]
  • CSNK1G3:casein kinase 1, gamma 3 [Gene - OMIM]
  • CTNNA1:catenin (cadherin-associated protein), alpha 1, 102kDa [Gene - OMIM]
  • DMXL1:Dmx-like 1 [Gene - OMIM]
  • DIAPH1:diaphanous-related formin 1 [Gene - OMIM]
  • DPYSL3:dihydropyrimidinase-like 3 [Gene - OMIM]
  • SLC26A2:solute carrier family 26 (anion exchanger), member 2 [Gene - OMIM]
  • HBEGF:heparin-binding EGF-like growth factor [Gene - OMIM]
  • EFNA5:ephrin-A5 [Gene - OMIM]
  • EGR1:early growth response 1 [Gene - OMIM]
  • ETF1:eukaryotic translation termination factor 1 [Gene - OMIM]
  • FAT2:FAT atypical cadherin 2 [Gene - OMIM]
  • DCANP1:dendritic cell-associated nuclear protein [Gene - OMIM]
  • MGC32805:uncharacterized LOC153163 [Gene]
  • SLC36A2:solute carrier family 36 (proton/amino acid symporter), member 2 [Gene - OMIM]
  • SPINK13:serine peptidase inhibitor, Kazal type 13 (putative) [Gene - OMIM]
  • CEP120:centrosomal protein 120kDa [Gene - OMIM]
  • SLC25A48:solute carrier family 25, member 48 [Gene - OMIM]
  • SRFBP1:serum response factor binding protein 1 [Gene - OMIM]
  • JAKMIP2-AS1:JAKMIP2 antisense RNA 1 [Gene]
  • ZMAT2:zinc finger, matrin-type 2 [Gene]
  • CCDC112:coiled-coil domain containing 112 [Gene]
  • PRELID2:PRELI domain containing 2 [Gene]
  • SH3RF2:SH3 domain containing ring finger 2 [Gene - OMIM]
  • PLAC8L1:PLAC8-like 1 [Gene]
  • DCP2:decapping mRNA 2 [Gene - OMIM]
  • ADAMTS19:ADAM metallopeptidase with thrombospondin type 1 motif, 19 [Gene - OMIM]
  • SPATA24:spermatogenesis associated 24 [Gene]
  • DNAJC18:DnaJ (Hsp40) homolog, subfamily C, member 18 [Gene]
  • STK32A:serine/threonine kinase 32A [Gene]
  • LVRN:laeverin [Gene - OMIM]
  • SLC36A1:solute carrier family 36 (proton/amino acid symporter), member 1 [Gene - OMIM]
  • LOC255187:uncharacterized LOC255187 [Gene]
  • DTWD2:DTW domain containing 2 [Gene]
  • RELL2:RELT-like 2 [Gene - OMIM]
  • SLC36A3:solute carrier family 36, member 3 [Gene - OMIM]
  • KIF4B:kinesin family member 4B [Gene - OMIM]
  • CHSY3:chondroitin sulfate synthase 3 [Gene - OMIM]
  • TMEM173:transmembrane protein 173 [Gene - OMIM]
  • FAM170A:family with sequence similarity 170, member A [Gene]
  • C5orf66-AS2:C5orf66 antisense RNA 2 [Gene]
  • LOC340074:uncharacterized LOC340074 [Gene]
  • ARSI:arylsulfatase family, member I [Gene - OMIM]
  • IRGM:immunity-related GTPase family, M [Gene - OMIM]
  • CATSPER3:cation channel, sperm associated 3 [Gene - OMIM]
  • TICAM2:toll-like receptor adaptor molecule 2 [Gene - OMIM]
  • DND1:DND microRNA-mediated repression inhibitor 1 [Gene - OMIM]
  • SAP30L-AS1:SAP30L antisense RNA 1 (head to head) [Gene]
  • TEX43:testis expressed 43 [Gene]
  • LOC389332:uncharacterized LOC389332 [Gene]
  • PROB1:proline-rich basic protein 1 [Gene]
  • C5orf46:chromosome 5 open reading frame 46 [Gene]
  • ARHGEF37:Rho guanine nucleotide exchange factor (GEF) 37 [Gene]
  • C5orf63:chromosome 5 open reading frame 63 [Gene]
  • SPINK6:serine peptidase inhibitor, Kazal type 6 [Gene - OMIM]
  • ANKHD1-EIF4EBP3:ANKHD1-EIF4EBP3 readthrough [Gene]
  • MIR143:microRNA 143 [Gene - OMIM]
  • MIR145:microRNA 145 [Gene - OMIM]
  • SPINK14:serine peptidase inhibitor, Kazal type 14 (putative) [Gene]
  • C5orf56:chromosome 5 open reading frame 56 [Gene]
  • IGIP:IgA-inducing protein [Gene]
  • MIR378A:microRNA 378a [Gene - OMIM]
  • TIFAB:TRAF-interacting protein with forkhead-associated domain, family member B [Gene - OMIM]
  • LOC553103:uncharacterized LOC553103 [Gene]
  • CTXN3:cortexin 3 [Gene]
  • ECSCR:endothelial cell surface expressed chemotaxis and apoptosis regulator [Gene - OMIM]
  • TMEM232:transmembrane protein 232 [Gene]
  • GRXCR2:glutaredoxin, cysteine rich 2 [Gene - OMIM]
  • SPINK9:serine peptidase inhibitor, Kazal type 9 [Gene - OMIM]
  • ARL14EPL:ADP-ribosylation factor-like 14 effector protein-like [Gene]
  • LINC01184:long intergenic non-protein coding RNA 1184 [Gene]
  • CCNI2:cyclin I family, member 2 [Gene]
  • SNORA13:small nucleolar RNA, H/ACA box 13 [Gene]
  • MIR584:microRNA 584 [Gene]
  • SNHG4:small nucleolar RNA host gene 4 [Gene]
  • MIR143HG:MIR143 host gene [Gene]
  • LINC00992:long intergenic non-protein coding RNA 992 [Gene]
  • LINC01183:long intergenic non-protein coding RNA 1183 [Gene]
  • MEIKIN:meiotic kinetochore factor [Gene - OMIM]
  • VTRNA2-1:vault RNA 2-1 [Gene - OMIM]
  • MIR874:microRNA 874 [Gene]
  • KIAA1024L:KIAA1024-like [Gene]
  • MIR1289-2:microRNA 1289-2 [Gene]
  • MIR548F3:microRNA 548f-3 [Gene]
  • MIR1294:microRNA 1294 [Gene]
  • MIR1303:microRNA 1303 [Gene]
  • TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene]
  • MIR1244-2:microRNA 1244-2 [Gene]
  • MIR3141:microRNA 3141 [Gene]
  • MIR3655:microRNA 3655 [Gene]
  • MIR3936:microRNA 3936 [Gene]
  • MIR3661:microRNA 3661 [Gene]
  • LINC01024:long intergenic non-protein coding RNA 1024 [Gene]
  • LOC100505658:uncharacterized LOC100505658 [Gene]
  • STARD4-AS1:STARD4 antisense RNA 1 [Gene]
  • LOC100505811:uncharacterized LOC100505811 [Gene]
  • LOC100505841:zinc finger protein 474-like [Gene]
  • MIR4633:microRNA 4633 [Gene]
  • MIR4461:microRNA 4461 [Gene]
  • MIR378H:microRNA 378h [Gene]
  • MIR4460:microRNA 4460 [Gene]
  • LOC100652758:uncharacterized LOC100652758 [Gene]
  • LINC01023:long intergenic non-protein coding RNA 1023 [Gene]
  • MIR5197:microRNA 5197 [Gene]
  • MIR5692C1:microRNA 5692c-1 [Gene]
  • MIR5706:microRNA 5706 [Gene]
  • P4HA2-AS1:P4HA2 antisense RNA 1 [Gene]
  • NREP-AS1:NREP antisense RNA 1 [Gene]
  • ARHGAP26-AS1:ARHGAP26 antisense RNA 1 [Gene]
  • PPP2R2B-IT1:PPP2R2B intronic transcript 1 [Gene]
  • ARHGAP26-IT1:ARHGAP26 intronic transcript 1 [Gene]
  • C5orf66:chromosome 5 open reading frame 66 [Gene]
  • LOC101926905:uncharacterized LOC101926905 [Gene]
  • LOC101926941:uncharacterized LOC101926941 [Gene]
  • LOC101926975:uncharacterized LOC101926975 [Gene]
  • LOC101927023:uncharacterized LOC101927023 [Gene]
  • LOC101927078:uncharacterized LOC101927078 [Gene]
  • CTB-113P19.1:uncharacterized LOC101927096 [Gene]
  • LOC101927100:uncharacterized LOC101927100 [Gene]
  • CTB-12O2.1:uncharacterized LOC101927115 [Gene]
  • LINC01470:long intergenic non-protein coding RNA 1470 [Gene]
  • LOC101927190:uncharacterized LOC101927190 [Gene]
  • SEMA6A-AS1:SEMA6A antisense RNA 1 [Gene]
  • LOC101927280:uncharacterized LOC101927280 [Gene]
  • LOC101927379:uncharacterized LOC101927379 [Gene]
  • LOC101927421:uncharacterized LOC101927421 [Gene]
  • LOC101927460:uncharacterized LOC101927460 [Gene]
  • LOC101927488:uncharacterized LOC101927488 [Gene]
  • LOC101927934:uncharacterized LOC101927934 [Gene]
  • C5orf66-AS1:C5orf66 antisense RNA 1 [Gene]
  • LOC101929696:uncharacterized LOC101929696 [Gene]
  • LOC101929719:uncharacterized LOC101929719 [Gene]
  • MIR6499:microRNA 6499 [Gene]
  • MIR6830:microRNA 6830 [Gene]
  • MIR6831:microRNA 6831 [Gene]
  • LOC102467213:uncharacterized LOC102467213 [Gene]
  • LOC102467214:uncharacterized LOC102467214 [Gene]
  • LOC102467216:uncharacterized LOC102467216 [Gene]
  • LOC102467217:uncharacterized LOC102467217 [Gene]
  • LOC102467223:uncharacterized LOC102467223 [Gene]
  • LOC102467224:uncharacterized LOC102467224 [Gene]
  • LOC102467225:uncharacterized LOC102467225 [Gene]
  • LOC102467226:uncharacterized LOC102467226 [Gene]
  • LOC102546228:uncharacterized LOC102546228 [Gene]
  • LOC102546229:uncharacterized LOC102546229 [Gene]
  • LOC102546294:uncharacterized LOC102546294 [Gene]
  • LOC102546298:uncharacterized LOC102546298 [Gene]
  • ADAMTS19-AS1:ADAMTS19 antisense RNA 1 [Gene]
  • LINC01170:long intergenic non-protein coding RNA 1170 [Gene]
Variant type:
copy number loss
Cytogenetic location:
5q21.3-33.2
Genomic location:
Preferred name:
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1
HGVS:
  • NC_000005.10:g.(?_106619588)_(156124387_?)del
  • NC_000005.9:g.(?_105955289)_(155551397_?)del
Links:
dbVar: nsv532198
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Synonyms:
See Cases
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000080882ISCA site 6classified by single submitterPathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000080882

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 6, SCV000080882.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Apr 29, 2015