ClinVar

NC_000001.10:g.(?_200522516)_(206945780_?)dup

Genes:

• ARL8A:ADP ribosylation factor like GTPase 8A [Gene - OMIM - HGNC]
• ATP2B4:ATPase plasma membrane Ca2+ transporting 4 [Gene - OMIM - HGNC]
• BTG2:BTG anti-proliferation factor 2 [Gene - OMIM - HGNC]
• DDX59:DEAD-box helicase 59 [Gene - OMIM - HGNC]
• ELF3:E74 like ETS transcription factor 3 [Gene - OMIM - HGNC]
• ELK4:ETS transcription factor ELK4 [Gene - OMIM - HGNC]
• GPR25:G protein-coupled receptor 25 [Gene - OMIM - HGNC]
• GPR37L1:G protein-coupled receptor 37 like 1 [Gene - OMIM - HGNC]
• IKBKE-AS1:IKBKE antisense RNA 1 [Gene - HGNC]
• KISS1:KiSS-1 metastasis suppressor [Gene - OMIM - HGNC]
• LEMD1:LEM domain containing 1 [Gene - OMIM - HGNC]
• MAPKAPK2:MAPK activated protein kinase 2 [Gene - OMIM - HGNC]
• MDM4:MDM4 regulator of p53 [Gene - OMIM - HGNC]
• NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
• PPFIA4:PTPRF interacting protein alpha 4 [Gene - OMIM - HGNC]
• RABIF:RAB interacting factor [Gene - OMIM - HGNC]
• RAB29:RAB29, member RAS oncogene family [Gene - OMIM - HGNC]
• RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
• RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
• SRGAP2:SLIT-ROBO Rho GTPase activating protein 2 [Gene - OMIM - HGNC]
• SOX13:SRY-box transcription factor 13 [Gene - OMIM - HGNC]
• ASCL5:achaete-scute family bHLH transcription factor 5 [Gene - HGNC]
• ADORA1:adenosine A1 receptor [Gene - OMIM - HGNC]
• ADIPOR1:adiponectin receptor 1 [Gene - OMIM - HGNC]
• AVPR1B:arginine vasopressin receptor 1B [Gene - OMIM - HGNC]
• RNPEP:arginyl aminopeptidase [Gene - OMIM - HGNC]
• CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
• CAMSAP2:calmodulin regulated spectrin associated protein family member 2 [Gene - OMIM - HGNC]
• CTSE:cathepsin E [Gene - OMIM - HGNC]
• CHIT1:chitinase 1 [Gene - OMIM - HGNC]
• CHI3L1:chitinase 3 like 1 [Gene - OMIM - HGNC]
• CNTN2:contactin 2 [Gene - OMIM - HGNC]
• CDK18:cyclin dependent kinase 18 [Gene - OMIM - HGNC]
• CSRP1:cysteine and glycine rich protein 1 [Gene - OMIM - HGNC]
• CYB5R1:cytochrome b5 reductase 1 [Gene - OMIM - HGNC]
• DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
• DYRK3:dual specificity tyrosine phosphorylation regulated kinase 3 [Gene - OMIM - HGNC]
• ETNK2:ethanolamine kinase 2 [Gene - OMIM - HGNC]
• EIF2D:eukaryotic translation initiation factor 2D [Gene - OMIM - HGNC]
• FAM72A:family with sequence similarity 72 member A [Gene - OMIM - HGNC]
• FMOD:fibromodulin [Gene - OMIM - HGNC]
• GOLT1A:golgi transport 1A [Gene - OMIM - HGNC]
• IGFN1:immunoglobulin like and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
• IPO9:importin 9 [Gene - HGNC]
• IKBKE:inhibitor of nuclear factor kappa B kinase subunit epsilon [Gene - OMIM - HGNC]
• INAVA:innate immunity activator [Gene - OMIM - HGNC]
• IL10:interleukin 10 [Gene - OMIM - HGNC]
• KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
• KLHL12:kelch like family member 12 [Gene - OMIM - HGNC]
• KIF14:kinesin family member 14 [Gene - OMIM - HGNC]
• KIF21B:kinesin family member 21B [Gene - OMIM - HGNC]
• LAD1:ladinin 1 [Gene - OMIM - HGNC]
• LMOD1:leiomodin 1 [Gene - OMIM - HGNC]
• LGR6:leucine rich repeat containing G protein-coupled receptor 6 [Gene - OMIM - HGNC]
• LRRN2:leucine rich repeat neuronal 2 [Gene - OMIM - HGNC]
• LAX1:lymphocyte transmembrane adaptor 1 [Gene - OMIM - HGNC]
• KDM5B:lysine demethylase 5B [Gene - OMIM - HGNC]
• MFSD4A:major facilitator superfamily domain containing 4A [Gene - OMIM - HGNC]
• MYOG:myogenin [Gene - OMIM - HGNC]
• MYBPH:myosin binding protein H [Gene - OMIM - HGNC]
• NFASC:neurofascin [Gene - OMIM - HGNC]
• NAV1:neuron navigator 1 [Gene - OMIM - HGNC]
• NUCKS1:nuclear casein kinase and cyclin dependent kinase substrate 1 [Gene - OMIM - HGNC]
• OPTC:opticin [Gene - OMIM - HGNC]
• PM20D1:peptidase M20 domain containing 1 [Gene - OMIM - HGNC]
• PIK3C2B:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Gene - OMIM - HGNC]
• PKP1:plakophilin 1 [Gene - OMIM - HGNC]
• PLEKHA6:pleckstrin homology domain containing A6 [Gene - OMIM - HGNC]
• PHLDA3:pleckstrin homology like domain family A member 3 [Gene - OMIM - HGNC]
• PRELP:proline and arginine rich end leucine rich repeat protein [Gene - OMIM - HGNC]
• PCAT6:prostate cancer associated transcript 6 [Gene - HGNC]
• PPP1R12B:protein phosphatase 1 regulatory subunit 12B [Gene - OMIM - HGNC]
• PPP1R15B:protein phosphatase 1 regulatory subunit 15B [Gene - OMIM - HGNC]
• PTPN7:protein tyrosine phosphatase non-receptor type 7 [Gene - OMIM - HGNC]
• RHEX:regulator of hemoglobinization and erythroid cell expansion [Gene - OMIM - HGNC]
• REN:renin [Gene - OMIM - HGNC]
• SHISA4:shisa family member 4 [Gene - OMIM - HGNC]
• SNRPE:small nuclear ribonucleoprotein polypeptide E [Gene - OMIM - HGNC]
• SLC26A9:solute carrier family 26 member 9 [Gene - OMIM - HGNC]
• SLC41A1:solute carrier family 41 member 1 [Gene - OMIM - HGNC]
• SLC45A3:solute carrier family 45 member 3 [Gene - OMIM - HGNC]
• SYT2:synaptotagmin 2 [Gene - OMIM - HGNC]
• TIMM17A:translocase of inner mitochondrial membrane 17A [Gene - OMIM - HGNC]
• TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
• TMEM183A:transmembrane protein 183A [Gene - HGNC]
• TMEM81:transmembrane protein 81 [Gene - HGNC]
• TMEM9:transmembrane protein 9 [Gene - OMIM - HGNC]
• TNNI1:troponin I1, slow skeletal type [Gene - OMIM - HGNC]
• TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
• UBE2T:ubiquitin conjugating enzyme E2 T [Gene - OMIM - HGNC]
• ZBED6:zinc finger BED-type containing 6 [Gene - OMIM - HGNC]
• ZC3H11A:zinc finger CCCH-type containing 11A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q32.1

Genomic location:

Chr1: 200522516 - 206945780 (on Assembly GRCh37)

Preferred name:

NC_000001.10:g.(?_200522516)_(206945780_?)dup

HGVS:

NC_000001.10:g.(?_200522516)_(206945780_?)dup

This HGVS expression did not pass validation