GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2018
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- 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-hydroxy-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]
- DDAH2:DDAH family member 2, ADMA-independent [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 (non-protein coding) [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]
- SKIC2:SKI2 subunit of superkiller complex [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]
- 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]
- 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 - OMIM - 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]
- BLTP3A:bridge-like lipid transfer protein family member 3A [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]
- 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 (Chido/Rodgers blood group) [Gene - OMIM - HGNC]
- C4B:complement C4B (Chido/Rodgers 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]
- 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]
- LINC03040:long intergenic non-protein coding RNA 3040 [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 - OMIM - 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 - OMIM - 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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000898336 | Baylor Genetics | criteria provided, single submitter (ACMG CNV Guidelines, 2011) | Pathogenic (Nov 1, 2018) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | 1 | 1 | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical 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
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | 1 | not provided | 1 | not provided |
Last Updated: Mar 10, 2024