GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000767714.1

Allele description [Variation Report for GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)]

GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)

Genes:
  • AGPAT1:1-acylglycerol-3-phosphate O-acyltransferase 1 [Gene - OMIM - HGNC]
  • DNPH1:2'-deoxynucleoside 5'-phosphate N-hydrolase 1 [Gene - OMIM - HGNC]
  • HMGCLL1:3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 [Gene - OMIM - HGNC]
  • HTR1B:5-hydroxytryptamine receptor 1B [Gene - OMIM - HGNC]
  • ABCC10:ATP binding cassette subfamily C member 10 [Gene - OMIM - HGNC]
  • ABCF1:ATP binding cassette subfamily F member 1 [Gene - OMIM - HGNC]
  • ATP6V1G2:ATPase H+ transporting V1 subunit G2 [Gene - OMIM - HGNC]
  • BAG2:BAG cochaperone 2 [Gene - OMIM - HGNC]
  • BAG6:BAG cochaperone 6 [Gene - OMIM - HGNC]
  • BAK1:BCL2 antagonist/killer 1 [Gene - OMIM - HGNC]
  • BNIP5:BCL2 interacting protein 5 [Gene - HGNC]
  • BEND6:BEN domain containing 6 [Gene - HGNC]
  • BICRAL:BICRA like chromatin remodeling complex associated protein [Gene - OMIM - HGNC]
  • BTBD9:BTB domain containing 9 [Gene - OMIM - HGNC]
  • CD109:CD109 molecule [Gene - OMIM - HGNC]
  • CD2AP:CD2 associated protein [Gene - OMIM - HGNC]
  • DDX43:DEAD-box helicase 43 [Gene - OMIM - HGNC]
  • DHX16:DEAH-box helicase 16 [Gene - OMIM - HGNC]
  • DEF6:DEF6 guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • DDX39B:DExD-box helicase 39B [Gene - OMIM - HGNC]
  • POLH:DNA polymerase eta [Gene - OMIM - HGNC]
  • EFHC1:EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • EGFL8:EGF like domain multiple 8 [Gene - OMIM - HGNC]
  • ELOVL4:ELOVL fatty acid elongase 4 [Gene - OMIM - HGNC]
  • ELOVL5:ELOVL fatty acid elongase 5 [Gene - OMIM - HGNC]
  • ETV7:ETS variant transcription factor 7 [Gene - OMIM - HGNC]
  • FBXO9:F-box protein 9 [Gene - OMIM - HGNC]
  • FANCE:FA complementation group E [Gene - OMIM - HGNC]
  • FKBP5:FKBP prolyl isomerase 5 [Gene - OMIM - HGNC]
  • FKBPL:FKBP prolyl isomerase like [Gene - OMIM - HGNC]
  • FGD2:FYVE, RhoGEF and PH domain containing 2 [Gene - OMIM - HGNC]
  • GNL1:G protein nucleolar 1 (putative) [Gene - OMIM - HGNC]
  • GPSM3:G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • GPANK1:G-patch domain and ankyrin repeats 1 [Gene - OMIM - HGNC]
  • GFRAL:GDNF family receptor alpha like [Gene - OMIM - HGNC]
  • GTPBP2:GTP binding protein 2 [Gene - OMIM - HGNC]
  • HCP5:HLA complex P5 [Gene - OMIM - HGNC]
  • HCG17:HLA complex group 17 [Gene - HGNC]
  • HCG22:HLA complex group 22 (gene/pseudogene) [Gene - OMIM - HGNC]
  • HCG26:HLA complex group 26 [Gene - HGNC]
  • KHDRBS2:KH RNA binding domain containing, signal transduction associated 2 [Gene - OMIM - HGNC]
  • KHDC1L:KH domain containing 1 like [Gene - HGNC]
  • KHDC1:KH domain containing 1 [Gene - OMIM - HGNC]
  • KHDC3L:KH domain containing 3 like, subcortical maternal complex member [Gene - OMIM - HGNC]
  • KIAA1586:KIAA1586 [Gene - HGNC]
  • LEMD2:LEM domain nuclear envelope protein 2 [Gene - OMIM - HGNC]
  • LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]
  • LMBRD1:LMBR1 domain containing 1 [Gene - OMIM - HGNC]
  • LSM2:LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MAD2L1BP:MAD2L1 binding protein [Gene - OMIM - HGNC]
  • MDGA1:MAM domain containing glycosylphosphatidylinositol anchor 1 [Gene - OMIM - HGNC]
  • MAS1L:MAS1 proto-oncogene like, G protein-coupled receptor [Gene - OMIM - HGNC]
  • MICA:MHC class I polypeptide-related sequence A [Gene - OMIM - HGNC]
  • MICB:MHC class I polypeptide-related sequence B [Gene - OMIM - HGNC]
  • MDFI:MyoD family inhibitor [Gene - OMIM - HGNC]
  • NFKBIE:NFKB inhibitor epsilon [Gene - OMIM - HGNC]
  • NFKBIL1:NFKB inhibitor like 1 [Gene - OMIM - HGNC]
  • OARD1:O-acyl-ADP-ribose deacylase 1 [Gene - OMIM - HGNC]
  • PBX2:PBX homeobox 2 [Gene - OMIM - HGNC]
  • PHF1:PHD finger protein 1 [Gene - OMIM - HGNC]
  • PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
  • PKHD1:PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Gene - OMIM - HGNC]
  • POU5F1:POU class 5 homeobox 1 [Gene - OMIM - HGNC]
  • PIM1:Pim-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • RAB23:RAB23, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB44:RAB44, member RAS oncogene family [Gene - HGNC]
  • RN7SK:RNA component of 7SK nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
  • POLR1H:RNA polymerase I subunit H [Gene - OMIM - HGNC]
  • RUNX2:RUNX family transcription factor 2 [Gene - OMIM - HGNC]
  • RHAG:Rh associated glycoprotein [Gene - OMIM - HGNC]
  • SPDEF:SAM pointed domain containing ETS transcription factor [Gene - OMIM - HGNC]
  • SAYSD1:SAYSVFN motif domain containing 1 [Gene - HGNC]
  • SH3BGRL2:SH3 domain binding glutamate rich protein like 2 [Gene - OMIM - HGNC]
  • SUPT3H:SPT3 homolog, SAGA and STAGA complex component [Gene - OMIM - HGNC]
  • SRPK1:SRSF protein kinase 1 [Gene - OMIM - HGNC]
  • SENP6:SUMO specific peptidase 6 [Gene - OMIM - HGNC]
  • SKIV2L:Ski2 like RNA helicase [Gene - OMIM - HGNC]
  • TAPBP:TAP binding protein [Gene - OMIM - HGNC]
  • TAF11:TATA-box binding protein associated factor 11 [Gene - OMIM - HGNC]
  • TAF8:TATA-box binding protein associated factor 8 [Gene - OMIM - HGNC]
  • TBC1D22B:TBC1 domain family member 22B [Gene - OMIM - HGNC]
  • TEAD3:TEA domain transcription factor 3 [Gene - OMIM - HGNC]
  • TNFRSF21:TNF receptor superfamily member 21 [Gene - OMIM - HGNC]
  • TRIM39-RPP21:TRIM39-RPP21 readthrough [Gene - HGNC]
  • TTK:TTK protein kinase [Gene - OMIM - HGNC]
  • TULP1:TUB like protein 1 [Gene - OMIM - HGNC]
  • UHRF1BP1:UHRF1 binding protein 1 [Gene - OMIM - HGNC]
  • VPS52:VPS52 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR46:WD repeat domain 46 [Gene - OMIM - HGNC]
  • YIPF3:Yip1 domain family member 3 [Gene - OMIM - HGNC]
  • ZFP57:ZFP57 zinc finger protein [Gene - OMIM - HGNC]
  • ABHD16A:abhydrolase domain containing 16A, phospholipase [Gene - OMIM - HGNC]
  • ATF6B:activating transcription factor 6 beta [Gene - OMIM - HGNC]
  • ADGRB3:adhesion G protein-coupled receptor B3 [Gene - OMIM - HGNC]
  • ADGRF1:adhesion G protein-coupled receptor F1 [Gene - OMIM - HGNC]
  • ADGRF2:adhesion G protein-coupled receptor F2 [Gene - HGNC]
  • ADGRF4:adhesion G protein-coupled receptor F4 [Gene - OMIM - HGNC]
  • ADGRF5:adhesion G protein-coupled receptor F5 [Gene - HGNC]
  • AGER:advanced glycosylation end-product specific receptor [Gene - OMIM - HGNC]
  • AARS2:alanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
  • ATAT1:alpha tubulin acetyltransferase 1 [Gene - OMIM - HGNC]
  • ANKS1A:ankyrin repeat and sterile alpha motif domain containing 1A [Gene - OMIM - HGNC]
  • ANKRD66:ankyrin repeat domain 66 [Gene - HGNC]
  • APOBEC2:apolipoprotein B mRNA editing enzyme catalytic subunit 2 [Gene - OMIM - HGNC]
  • APOM:apolipoprotein M [Gene - OMIM - HGNC]
  • ARMC12:armadillo repeat containing 12 [Gene - HGNC]
  • B3GALT4:beta-1,3-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • B3GAT2:beta-1,3-glucuronyltransferase 2 [Gene - OMIM - HGNC]
  • BMP5:bone morphogenetic protein 5 [Gene - OMIM - HGNC]
  • BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
  • BRPF3:bromodomain and PHD finger containing 3 [Gene - OMIM - HGNC]
  • BRD2:bromodomain containing 2 [Gene - OMIM - HGNC]
  • BTNL2:butyrophilin like 2 [Gene - OMIM - HGNC]
  • BYSL:bystin like [Gene - OMIM - HGNC]
  • CAPN11:calpain 11 [Gene - OMIM - HGNC]
  • CNPY3:canopy FGF signaling regulator 3 [Gene - OMIM - HGNC]
  • CMTR1:cap methyltransferase 1 [Gene - OMIM - HGNC]
  • CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
  • CDC5L:cell division cycle 5 like [Gene - OMIM - HGNC]
  • CENPQ:centromere protein Q [Gene - OMIM - HGNC]
  • CLIC1:chloride intracellular channel 1 [Gene - OMIM - HGNC]
  • CLIC5:chloride intracellular channel 5 [Gene - OMIM - HGNC]
  • C6orf132:chromosome 6 open reading frame 132 [Gene - HGNC]
  • C6orf136:chromosome 6 open reading frame 136 [Gene - HGNC]
  • C6orf141:chromosome 6 open reading frame 141 [Gene - HGNC]
  • C6orf15:chromosome 6 open reading frame 15 [Gene - OMIM - HGNC]
  • C6orf223:chromosome 6 open reading frame 223 [Gene - HGNC]
  • C6orf226:chromosome 6 open reading frame 226 [Gene - HGNC]
  • C6orf47:chromosome 6 open reading frame 47 [Gene - HGNC]
  • C6orf89:chromosome 6 open reading frame 89 [Gene - OMIM - HGNC]
  • CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - HGNC]
  • CCHCR1:coiled-coil alpha-helical rod protein 1 [Gene - OMIM - HGNC]
  • CCDC167:coiled-coil domain containing 167 [Gene - HGNC]
  • CLPSL1:colipase like 1 [Gene - HGNC]
  • CLPSL2:colipase like 2 [Gene - HGNC]
  • CLPS:colipase [Gene - OMIM - HGNC]
  • COL9A1:collagen type IX alpha 1 chain [Gene - OMIM - HGNC]
  • COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
  • COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]
  • COL19A1:collagen type XIX alpha 1 chain [Gene - OMIM - HGNC]
  • COL21A1:collagen type XXI alpha 1 chain [Gene - OMIM - HGNC]
  • C2:complement C2 [Gene - OMIM - HGNC]
  • C4A:complement C4A (Rodgers blood group) [Gene - OMIM - HGNC]
  • C4B:complement C4B (Chido blood group) [Gene - OMIM - HGNC]
  • CFB:complement factor B [Gene - OMIM - HGNC]
  • CPNE5:copine 5 [Gene - OMIM - HGNC]
  • CDSN:corneodesmosin [Gene - OMIM - HGNC]
  • CUL7:cullin 7 [Gene - OMIM - HGNC]
  • CUL9:cullin 9 [Gene - OMIM - HGNC]
  • CUTA:cutA divalent cation tolerance homolog [Gene - OMIM - HGNC]
  • CGAS:cyclic GMP-AMP synthase [Gene - OMIM - HGNC]
  • CCND3:cyclin D3 [Gene - OMIM - HGNC]
  • CDKN1A:cyclin dependent kinase inhibitor 1A [Gene - OMIM - HGNC]
  • CRIP3:cysteine rich protein 3 [Gene - HGNC]
  • CRISP1:cysteine rich secretory protein 1 [Gene - OMIM - HGNC]
  • CRISP2:cysteine rich secretory protein 2 [Gene - OMIM - HGNC]
  • CRISP3:cysteine rich secretory protein 3 [Gene - OMIM - HGNC]
  • CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP39A1:cytochrome P450 family 39 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX7A2:cytochrome c oxidase subunit 7A2 [Gene - OMIM - HGNC]
  • DAXX:death domain associated protein [Gene - OMIM - HGNC]
  • DXO:decapping exoribonuclease [Gene - OMIM - HGNC]
  • DEFB110:defensin beta 110 [Gene - HGNC]
  • DEFB112:defensin beta 112 [Gene - HGNC]
  • DEFB113:defensin beta 113 [Gene - HGNC]
  • DEFB114:defensin beta 114 [Gene - OMIM - HGNC]
  • DLK2:delta like non-canonical Notch ligand 2 [Gene - HGNC]
  • DPPA5:developmental pluripotency associated 5 [Gene - OMIM - HGNC]
  • DDAH2:dimethylarginine dimethylaminohydrolase 2 [Gene - OMIM - HGNC]
  • DDR1:discoidin domain receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • DAAM2:dishevelled associated activator of morphogenesis 2 [Gene - OMIM - HGNC]
  • DNAH8:dynein axonemal heavy chain 8 [Gene - OMIM - HGNC]
  • ENPP4:ectonucleotide pyrophosphatase/phosphodiesterase 4 [Gene - OMIM - HGNC]
  • ENPP5:ectonucleotide pyrophosphatase/phosphodiesterase family member 5 [Gene - OMIM - HGNC]
  • ERVH-3:endogenous retrovirus group H member 3 [Gene - HGNC]
  • EHMT2:euchromatic histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • EEF1A1:eukaryotic translation elongation factor 1 alpha 1 [Gene - OMIM - HGNC]
  • XPO5:exportin 5 [Gene - OMIM - HGNC]
  • EYS:eyes shut homolog [Gene - OMIM - HGNC]
  • FAM135A:family with sequence similarity 135 member A [Gene - HGNC]
  • FAM83B:family with sequence similarity 83 member B [Gene - HGNC]
  • FRS3:fibroblast growth factor receptor substrate 3 [Gene - OMIM - HGNC]
  • FILIP1:filamin A interacting protein 1 [Gene - OMIM - HGNC]
  • FLOT1:flotillin 1 [Gene - OMIM - HGNC]
  • FOXP4:forkhead box P4 [Gene - OMIM - HGNC]
  • GABBR1:gamma-aminobutyric acid type B receptor subunit 1 [Gene - OMIM - HGNC]
  • GTF2H4:general transcription factor IIH subunit 4 [Gene - OMIM - HGNC]
  • GCM1:glial cells missing transcription factor 1 [Gene - OMIM - HGNC]
  • GLP1R:glucagon like peptide 1 receptor [Gene - OMIM - HGNC]
  • GRM4:glutamate metabotropic receptor 4 [Gene - OMIM - HGNC]
  • GCLC:glutamate-cysteine ligase catalytic subunit [Gene - OMIM - HGNC]
  • GSTA1:glutathione S-transferase alpha 1 [Gene - OMIM - HGNC]
  • GSTA2:glutathione S-transferase alpha 2 [Gene - OMIM - HGNC]
  • GSTA3:glutathione S-transferase alpha 3 [Gene - OMIM - HGNC]
  • GSTA4:glutathione S-transferase alpha 4 [Gene - OMIM - HGNC]
  • GSTA5:glutathione S-transferase alpha 5 [Gene - OMIM - HGNC]
  • GNMT:glycine N-methyltransferase [Gene - OMIM - HGNC]
  • GLYATL3:glycine-N-acyltransferase like 3 [Gene - OMIM - HGNC]
  • GLO1:glyoxalase I [Gene - OMIM - HGNC]
  • GUCA1A:guanylate cyclase activator 1A [Gene - OMIM - HGNC]
  • GUCA1B:guanylate cyclase activator 1B [Gene - OMIM - HGNC]
  • HSP90AB1:heat shock protein 90 alpha family class B member 1 [Gene - OMIM - HGNC]
  • HSPA1L:heat shock protein family A (Hsp70) member 1 like [Gene - OMIM - HGNC]
  • HSPA1A:heat shock protein family A (Hsp70) member 1A [Gene - OMIM - HGNC]
  • HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
  • HMGA1:high mobility group AT-hook 1 [Gene - OMIM - HGNC]
  • HMGN3:high mobility group nucleosomal binding domain 3 [Gene - OMIM - HGNC]
  • HSD17B8:hydroxysteroid 17-beta dehydrogenase 8 [Gene - OMIM - HGNC]
  • HCRTR2:hypocretin receptor 2 [Gene - OMIM - HGNC]
  • IER3:immediate early response 3 [Gene - OMIM - HGNC]
  • ILRUN:inflammation and lipid regulator with UBA-like and NBR1-like domains [Gene - OMIM - HGNC]
  • ITPR3:inositol 1,4,5-trisphosphate receptor type 3 [Gene - OMIM - HGNC]
  • IP6K3:inositol hexakisphosphate kinase 3 [Gene - OMIM - HGNC]
  • IRAK1BP1:interleukin 1 receptor associated kinase 1 binding protein 1 [Gene - OMIM - HGNC]
  • IL17A:interleukin 17A [Gene - OMIM - HGNC]
  • IL17F:interleukin 17F [Gene - OMIM - HGNC]
  • IMPG1:interphotoreceptor matrix proteoglycan 1 [Gene - OMIM - HGNC]
  • KLHDC3:kelch domain containing 3 [Gene - OMIM - HGNC]
  • KLHL31:kelch like family member 31 [Gene - OMIM - HGNC]
  • KIF6:kinesin family member 6 [Gene - OMIM - HGNC]
  • KIFC1:kinesin family member C1 [Gene - OMIM - HGNC]
  • KLC4:kinesin light chain 4 [Gene - HGNC]
  • LCA5:lebercilin LCA5 [Gene - OMIM - HGNC]
  • LGSN:lengsin, lens protein with glutamine synthetase domain [Gene - OMIM - HGNC]
  • LRFN2:leucine rich repeat and fibronectin type III domain containing 2 [Gene - OMIM - HGNC]
  • LRRC1:leucine rich repeat containing 1 [Gene - OMIM - HGNC]
  • LRRC73:leucine rich repeat containing 73 [Gene - HGNC]
  • LST1:leukocyte specific transcript 1 [Gene - OMIM - HGNC]
  • LINC01621:long intergenic non-protein coding RNA 1621 [Gene - HGNC]
  • LINC00951:long intergenic non-protein coding RNA 951 [Gene - HGNC]
  • LY6G5B:lymphocyte antigen 6 family member G5B [Gene - OMIM - HGNC]
  • LY6G5C:lymphocyte antigen 6 family member G5C [Gene - OMIM - HGNC]
  • LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
  • LY6G6D:lymphocyte antigen 6 family member G6D [Gene - OMIM - HGNC]
  • LY6G6F:lymphocyte antigen 6 family member G6F [Gene - OMIM - HGNC]
  • LTA:lymphotoxin alpha [Gene - OMIM - HGNC]
  • LTB:lymphotoxin beta [Gene - OMIM - HGNC]
  • HLA-A:major histocompatibility complex, class I, A [Gene - OMIM - HGNC]
  • HLA-B:major histocompatibility complex, class I, B [Gene - OMIM - HGNC]
  • HLA-C:major histocompatibility complex, class I, C [Gene - OMIM - HGNC]
  • HLA-E:major histocompatibility complex, class I, E [Gene - OMIM - HGNC]
  • HLA-F:major histocompatibility complex, class I, F [Gene - OMIM - HGNC]
  • HLA-G:major histocompatibility complex, class I, G [Gene - OMIM - HGNC]
  • HLA-DMA:major histocompatibility complex, class II, DM alpha [Gene - OMIM - HGNC]
  • HLA-DMB:major histocompatibility complex, class II, DM beta [Gene - OMIM - HGNC]
  • HLA-DOA:major histocompatibility complex, class II, DO alpha [Gene - OMIM - HGNC]
  • HLA-DOB:major histocompatibility complex, class II, DO beta [Gene - OMIM - HGNC]
  • HLA-DPA1:major histocompatibility complex, class II, DP alpha 1 [Gene - OMIM - HGNC]
  • HLA-DPB1:major histocompatibility complex, class II, DP beta 1 [Gene - OMIM - HGNC]
  • HLA-DQA1:major histocompatibility complex, class II, DQ alpha 1 [Gene - OMIM - HGNC]
  • HLA-DQA2:major histocompatibility complex, class II, DQ alpha 2 [Gene - OMIM - HGNC]
  • HLA-DQB1:major histocompatibility complex, class II, DQ beta 1 [Gene - OMIM - HGNC]
  • HLA-DQB2:major histocompatibility complex, class II, DQ beta 2 [Gene - OMIM - HGNC]
  • HLA-DRA:major histocompatibility complex, class II, DR alpha [Gene - OMIM - HGNC]
  • HLA-DRB1:major histocompatibility complex, class II, DR beta 1 [Gene - OMIM - HGNC]
  • HLA-DRB5:major histocompatibility complex, class II, DR beta 5 [Gene - OMIM - HGNC]
  • MEA1:male-enhanced antigen 1 [Gene - OMIM - HGNC]
  • MED20:mediator complex subunit 20 [Gene - OMIM - HGNC]
  • MDC1:mediator of DNA damage checkpoint 1 [Gene - OMIM - HGNC]
  • MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]
  • MEP1A:meprin A subunit alpha [Gene - OMIM - HGNC]
  • MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
  • MIR133B:microRNA 133b [Gene - OMIM - HGNC]
  • MIR206:microRNA 206 [Gene - OMIM - HGNC]
  • MIR219A1:microRNA 219a-1 [Gene - OMIM - HGNC]
  • MIR30A:microRNA 30a [Gene - OMIM - HGNC]
  • MIR877:microRNA 877 [Gene - OMIM - HGNC]
  • MCM3:minichromosome maintenance complex component 3 [Gene - OMIM - HGNC]
  • MTCH1:mitochondrial carrier 1 [Gene - OMIM - HGNC]
  • MCCD1:mitochondrial coiled-coil domain 1 [Gene - OMIM - HGNC]
  • MRPL14:mitochondrial ribosomal protein L14 [Gene - OMIM - HGNC]
  • MRPL2:mitochondrial ribosomal protein L2 [Gene - OMIM - HGNC]
  • MRPS10:mitochondrial ribosomal protein S10 [Gene - OMIM - HGNC]
  • MRPS18A:mitochondrial ribosomal protein S18A [Gene - OMIM - HGNC]
  • MRPS18B:mitochondrial ribosomal protein S18B [Gene - OMIM - HGNC]
  • MTO1:mitochondrial tRNA translation optimization 1 [Gene - OMIM - HGNC]
  • MAPK13:mitogen-activated protein kinase 13 [Gene - OMIM - HGNC]
  • MAPK14:mitogen-activated protein kinase 14 [Gene - OMIM - HGNC]
  • MOCS1:molybdenum cofactor synthesis 1 [Gene - OMIM - HGNC]
  • MLN:motilin [Gene - OMIM - HGNC]
  • MUC21:mucin 21, cell surface associated [Gene - OMIM - HGNC]
  • MUC22:mucin 22 [Gene - OMIM - HGNC]
  • MUCL3:mucin like 3 [Gene - OMIM - HGNC]
  • MLIP:muscular LMNA interacting protein [Gene - OMIM - HGNC]
  • MSH5:mutS homolog 5 [Gene - OMIM - HGNC]
  • MOG:myelin oligodendrocyte glycoprotein [Gene - OMIM - HGNC]
  • MYO6:myosin VI [Gene - OMIM - HGNC]
  • NCR2:natural cytotoxicity triggering receptor 2 [Gene - OMIM - HGNC]
  • NCR3:natural cytotoxicity triggering receptor 3 [Gene - OMIM - HGNC]
  • NELFE:negative elongation factor complex member E [Gene - OMIM - HGNC]
  • NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
  • NOTCH4:notch receptor 4 [Gene - OMIM - HGNC]
  • NFYA:nuclear transcription factor Y subunit alpha [Gene - OMIM - HGNC]
  • NUDT3:nudix hydrolase 3 [Gene - OMIM - HGNC]
  • NRM:nurim [Gene - HGNC]
  • OR2H2:olfactory receptor family 2 subfamily H member 2 [Gene - OMIM - HGNC]
  • OOEP:oocyte expressed protein [Gene - OMIM - HGNC]
  • OGFRL1:opioid growth factor receptor like 1 [Gene - HGNC]
  • OPN5:opsin 5 [Gene - OMIM - HGNC]
  • PPT2:palmitoyl-protein thioesterase 2 [Gene - OMIM - HGNC]
  • PNPLA1:patatin like phospholipase domain containing 1 [Gene - OMIM - HGNC]
  • PTCHD4:patched domain containing 4 [Gene - OMIM - HGNC]
  • PI16:peptidase inhibitor 16 [Gene - HGNC]
  • PPIL1:peptidylprolyl isomerase like 1 [Gene - OMIM - HGNC]
  • PRPH2:peripherin 2 [Gene - OMIM - HGNC]
  • PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
  • PXT1:peroxisomal testis enriched protein 1 [Gene - HGNC]
  • PPARD:peroxisome proliferator activated receptor delta [Gene - OMIM - HGNC]
  • PGK2:phosphoglycerate kinase 2 [Gene - OMIM - HGNC]
  • PLA2G7:phospholipase A2 group VII [Gene - OMIM - HGNC]
  • PHIP:pleckstrin homology domain interacting protein [Gene - OMIM - HGNC]
  • KCTD20:potassium channel tetramerization domain containing 20 [Gene - OMIM - HGNC]
  • KCNK16:potassium two pore domain channel subfamily K member 16 [Gene - OMIM - HGNC]
  • KCNK17:potassium two pore domain channel subfamily K member 17 [Gene - OMIM - HGNC]
  • KCNK5:potassium two pore domain channel subfamily K member 5 [Gene - OMIM - HGNC]
  • KCNQ5:potassium voltage-gated channel subfamily Q member 5 [Gene - OMIM - HGNC]
  • PTCRA:pre T cell antigen receptor alpha [Gene - OMIM - HGNC]
  • PFDN6:prefoldin subunit 6 [Gene - OMIM - HGNC]
  • PRICKLE4:prickle planar cell polarity protein 4 [Gene - OMIM - HGNC]
  • PGC:progastricsin [Gene - OMIM - HGNC]
  • PAQR8:progestin and adipoQ receptor family member 8 [Gene - OMIM - HGNC]
  • PRR3:proline rich 3 [Gene - HGNC]
  • PRRC2A:proline rich coiled-coil 2A [Gene - OMIM - HGNC]
  • PRRT1:proline rich transmembrane protein 1 [Gene - OMIM - HGNC]
  • PSMB8:proteasome 20S subunit beta 8 [Gene - OMIM - HGNC]
  • PSMB9:proteasome 20S subunit beta 9 [Gene - OMIM - HGNC]
  • PACSIN1:protein kinase C and casein kinase substrate in neurons 1 [Gene - OMIM - HGNC]
  • PPP1R11:protein phosphatase 1 regulatory inhibitor subunit 11 [Gene - OMIM - HGNC]
  • PPP1R10:protein phosphatase 1 regulatory subunit 10 [Gene - OMIM - HGNC]
  • PPP1R18:protein phosphatase 1 regulatory subunit 18 [Gene - OMIM - HGNC]
  • PPP2R5D:protein phosphatase 2 regulatory subunit B'delta [Gene - OMIM - HGNC]
  • PTK7:protein tyrosine kinase 7 (inactive) [Gene - OMIM - HGNC]
  • PTP4A1:protein tyrosine phosphatase 4A1 [Gene - OMIM - HGNC]
  • PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
  • PSORS1C2:psoriasis susceptibility 1 candidate 2 [Gene - OMIM - HGNC]
  • RSPH9:radial spoke head component 9 [Gene - OMIM - HGNC]
  • RGL2:ral guanine nucleotide dissociation stimulator like 2 [Gene - OMIM - HGNC]
  • RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
  • RCAN2:regulator of calcineurin 2 [Gene - OMIM - HGNC]
  • RXRB:retinoid X receptor beta [Gene - OMIM - HGNC]
  • RPP21:ribonuclease P/MRP subunit p21 [Gene - OMIM - HGNC]
  • RRP36:ribosomal RNA processing 36 [Gene - OMIM - HGNC]
  • RPL10A:ribosomal protein L10a [Gene - OMIM - HGNC]
  • RPL7L1:ribosomal protein L7 like 1 [Gene - OMIM - HGNC]
  • RPS10:ribosomal protein S10 [Gene - OMIM - HGNC]
  • RPS18:ribosomal protein S18 [Gene - OMIM - HGNC]
  • RING1:ring finger protein 1 [Gene - OMIM - HGNC]
  • RNF39:ring finger protein 39 [Gene - OMIM - HGNC]
  • RNF5:ring finger protein 5 [Gene - OMIM - HGNC]
  • RNF8:ring finger protein 8 [Gene - OMIM - HGNC]
  • SRSF3:serine and arginine rich splicing factor 3 [Gene - OMIM - HGNC]
  • STK19:serine/threonine kinase 19 [Gene - OMIM - HGNC]
  • STK38:serine/threonine kinase 38 [Gene - OMIM - HGNC]
  • SRF:serum response factor [Gene - OMIM - HGNC]
  • SCUBE3:signal peptide, CUB domain and EGF like domain containing 3 [Gene - OMIM - HGNC]
  • SMAP1:small ArfGAP 1 [Gene - OMIM - HGNC]
  • SMIM29:small integral membrane protein 29 [Gene - OMIM - HGNC]
  • SNRPC:small nuclear ribonucleoprotein polypeptide C [Gene - OMIM - HGNC]
  • SNHG32:small nucleolar RNA host gene 32 [Gene - OMIM - HGNC]
  • SLC17A5:solute carrier family 17 member 5 [Gene - OMIM - HGNC]
  • SLC22A7:solute carrier family 22 member 7 [Gene - OMIM - HGNC]
  • SLC25A27:solute carrier family 25 member 27 [Gene - OMIM - HGNC]
  • SLC26A8:solute carrier family 26 member 8 [Gene - OMIM - HGNC]
  • SLC29A1:solute carrier family 29 member 1 (Augustine blood group) [Gene - OMIM - HGNC]
  • SLC35B2:solute carrier family 35 member B2 [Gene - OMIM - HGNC]
  • SLC39A7:solute carrier family 39 member 7 [Gene - OMIM - HGNC]
  • SLC44A4:solute carrier family 44 member 4 [Gene - OMIM - HGNC]
  • SPATS1:spermatogenesis associated serine rich 1 [Gene - HGNC]
  • SDHAF4:succinate dehydrogenase complex assembly factor 4 [Gene - OMIM - HGNC]
  • SAPCD1:suppressor APC domain containing 1 [Gene - HGNC]
  • SFTA2:surfactant associated 2 [Gene - HGNC]
  • SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]
  • TCP11:t-complex 11 [Gene - OMIM - HGNC]
  • TCTE1:t-complex-associated-testis-expressed 1 [Gene - OMIM - HGNC]
  • TTBK1:tau tubulin kinase 1 [Gene - OMIM - HGNC]
  • TNXB:tenascin XB [Gene - OMIM - HGNC]
  • TSBP1:testis expressed basic protein 1 [Gene - OMIM - HGNC]
  • TJAP1:tight junction associated protein 1 [Gene - OMIM - HGNC]
  • TCF19:transcription factor 19 [Gene - OMIM - HGNC]
  • TFAP2B:transcription factor AP-2 beta [Gene - OMIM - HGNC]
  • TFAP2D:transcription factor AP-2 delta [Gene - OMIM - HGNC]
  • TFEB:transcription factor EB [Gene - OMIM - HGNC]
  • TRERF1:transcriptional regulating factor 1 [Gene - OMIM - HGNC]
  • TOMM6:translocase of outer mitochondrial membrane 6 [Gene - OMIM - HGNC]
  • TRAM2:translocation associated membrane protein 2 [Gene - OMIM - HGNC]
  • TSPO2:translocator protein 2 [Gene - OMIM - HGNC]
  • TMEM14A:transmembrane protein 14A [Gene - OMIM - HGNC]
  • TMEM151B:transmembrane protein 151B [Gene - HGNC]
  • TMEM217:transmembrane protein 217 [Gene - HGNC]
  • TMEM30A:transmembrane protein 30A [Gene - OMIM - HGNC]
  • TMEM63B:transmembrane protein 63B [Gene - HGNC]
  • TAP1:transporter 1, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TAP2:transporter 2, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TREM1:triggering receptor expressed on myeloid cells 1 [Gene - OMIM - HGNC]
  • TREM2:triggering receptor expressed on myeloid cells 2 [Gene - OMIM - HGNC]
  • TREML1:triggering receptor expressed on myeloid cells like 1 [Gene - OMIM - HGNC]
  • TREML2:triggering receptor expressed on myeloid cells like 2 [Gene - OMIM - HGNC]
  • TREML4:triggering receptor expressed on myeloid cells like 4 [Gene - OMIM - HGNC]
  • TRIM10:tripartite motif containing 10 [Gene - OMIM - HGNC]
  • TRIM15:tripartite motif containing 15 [Gene - HGNC]
  • TRIM26:tripartite motif containing 26 [Gene - OMIM - HGNC]
  • TRIM31:tripartite motif containing 31 [Gene - OMIM - HGNC]
  • TRIM39:tripartite motif containing 39 [Gene - OMIM - HGNC]
  • TRIM40:tripartite motif containing 40 [Gene - OMIM - HGNC]
  • TUBB:tubulin beta class I [Gene - OMIM - HGNC]
  • TBCC:tubulin folding cofactor C [Gene - OMIM - HGNC]
  • TINAG:tubulointerstitial nephritis antigen [Gene - OMIM - HGNC]
  • TDRD6:tudor domain containing 6 [Gene - OMIM - HGNC]
  • TNF:tumor necrosis factor [Gene - OMIM - HGNC]
  • UQCC2:ubiquinol-cytochrome c reductase complex assembly factor 2 [Gene - OMIM - HGNC]
  • UBD:ubiquitin D [Gene - OMIM - HGNC]
  • UBR2:ubiquitin protein ligase E3 component n-recognin 2 [Gene - OMIM - HGNC]
  • USP49:ubiquitin specific peptidase 49 [Gene - HGNC]
  • UNC5CL:unc-5 family C-terminal like [Gene - OMIM - HGNC]
  • LOC101926915:uncharacterized LOC101926915 [Gene]
  • LOC101927189:uncharacterized LOC101927189 [Gene]
  • VARS1:valyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • VARS2:valyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • VEGFA:vascular endothelial growth factor A [Gene - OMIM - HGNC]
  • VWA7:von Willebrand factor A domain containing 7 [Gene - OMIM - HGNC]
  • ZFAND3:zinc finger AN1-type containing 3 [Gene - OMIM - HGNC]
  • ZBTB12:zinc finger and BTB domain containing 12 [Gene - HGNC]
  • ZBTB22:zinc finger and BTB domain containing 22 [Gene - OMIM - HGNC]
  • ZBTB9:zinc finger and BTB domain containing 9 [Gene - HGNC]
  • ZNF318:zinc finger protein 318 [Gene - OMIM - HGNC]
  • ZNF451:zinc finger protein 451 [Gene - OMIM - HGNC]
  • ZNF76:zinc finger protein 76 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p22.1-q14.1
Genomic location:
Chr6: 29455465 - 81447367 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898336Baylor Geneticscriteria provided, single submitter
Pathogenic
(Nov 1, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898336.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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