U.S. flag

An official website of the United States government

GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001006470.1

Allele description [Variation Report for GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4]

GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4

Genes:
  • AKAP3:A-kinase anchoring protein 3 [Gene - OMIM - HGNC]
  • ART4:ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) [Gene - OMIM - HGNC]
  • AEBP2:AE binding protein 2 [Gene - OMIM - HGNC]
  • ALG10:ALG10 alpha-1,2-glucosyltransferase [Gene - OMIM - HGNC]
  • ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
  • BCL2L14:BCL2 like 14 [Gene - OMIM - HGNC]
  • BICD1:BICD cargo adaptor 1 [Gene - OMIM - HGNC]
  • BORCS5:BLOC-1 related complex subunit 5 [Gene - OMIM - HGNC]
  • CLEC6A:C-type lectin domain containing 6A [Gene - OMIM - HGNC]
  • CLEC7A:C-type lectin domain containing 7A [Gene - OMIM - HGNC]
  • CLEC9A:C-type lectin domain containing 9A [Gene - OMIM - HGNC]
  • CLEC1A:C-type lectin domain family 1 member A [Gene - OMIM - HGNC]
  • CLEC1B:C-type lectin domain family 1 member B [Gene - OMIM - HGNC]
  • CLEC12A:C-type lectin domain family 12 member A [Gene - OMIM - HGNC]
  • CLEC12B:C-type lectin domain family 12 member B [Gene - OMIM - HGNC]
  • CLEC2A:C-type lectin domain family 2 member A [Gene - OMIM - HGNC]
  • CLEC2B:C-type lectin domain family 2 member B [Gene - OMIM - HGNC]
  • CLEC2D:C-type lectin domain family 2 member D [Gene - OMIM - HGNC]
  • CLEC4A:C-type lectin domain family 4 member A [Gene - OMIM - HGNC]
  • CLEC4C:C-type lectin domain family 4 member C [Gene - OMIM - HGNC]
  • CLEC4D:C-type lectin domain family 4 member D [Gene - OMIM - HGNC]
  • CLEC4E:C-type lectin domain family 4 member E [Gene - OMIM - HGNC]
  • CLECL1:C-type lectin like 1 [Gene - OMIM - HGNC]
  • C2CD5:C2 calcium dependent domain containing 5 [Gene - OMIM - HGNC]
  • CD163L1:CD163 molecule like 1 [Gene - OMIM - HGNC]
  • CD163:CD163 molecule [Gene - OMIM - HGNC]
  • CD27:CD27 molecule [Gene - OMIM - HGNC]
  • CD4:CD4 molecule [Gene - OMIM - HGNC]
  • CD69:CD69 molecule [Gene - OMIM - HGNC]
  • CD9:CD9 molecule [Gene - OMIM - HGNC]
  • COPS7A:COP9 signalosome subunit 7A [Gene - OMIM - HGNC]
  • DDX47:DEAD-box helicase 47 [Gene - OMIM - HGNC]
  • DDX11:DEAD/H-box helicase 11 [Gene - OMIM - HGNC]
  • DENND5B:DENN domain containing 5B [Gene - OMIM - HGNC]
  • ERC1:ELKS/RAB6-interacting/CAST family member 1 [Gene - OMIM - HGNC]
  • EMG1:EMG1 N1-specific pseudouridine methyltransferase [Gene - OMIM - HGNC]
  • ERGIC2:ERGIC and golgi 2 [Gene - OMIM - HGNC]
  • ETV6:ETS variant transcription factor 6 [Gene - OMIM - HGNC]
  • FBXL14:F-box and leucine rich repeat protein 14 [Gene - OMIM - HGNC]
  • FGFR1OP2:FGFR1 oncogene partner 2 [Gene - OMIM - HGNC]
  • FKBP4:FKBP prolyl isomerase 4 [Gene - OMIM - HGNC]
  • FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
  • GNB3:G protein subunit beta 3 [Gene - OMIM - HGNC]
  • GPR162:G protein-coupled receptor 162 [Gene - HGNC]
  • GPR19:G protein-coupled receptor 19 [Gene - OMIM - HGNC]
  • GPRC5A:G protein-coupled receptor class C group 5 member A [Gene - OMIM - HGNC]
  • GPRC5D:G protein-coupled receptor class C group 5 member D [Gene - OMIM - HGNC]
  • GABARAPL1:GABA type A receptor associated protein like 1 [Gene - OMIM - HGNC]
  • H2AJ:H2A.J histone [Gene - HGNC]
  • H3-5:H3.5 histone [Gene - OMIM - HGNC]
  • H4C16:H4 histone 16 [Gene - OMIM - HGNC]
  • IQSEC3:IQ motif and Sec7 domain ArfGEF 3 [Gene - OMIM - HGNC]
  • KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • LRP6:LDL receptor related protein 6 [Gene - OMIM - HGNC]
  • LMO3:LIM domain only 3 [Gene - OMIM - HGNC]
  • MANSC1:MANSC domain containing 1 [Gene - HGNC]
  • MANSC4:MANSC domain containing 4 [Gene - HGNC]
  • NDUFA9:NADH:ubiquinone oxidoreductase subunit A9 [Gene - OMIM - HGNC]
  • NANOGNB:NANOG neighbor homeobox [Gene - HGNC]
  • NECAP1:NECAP endocytosis associated 1 [Gene - OMIM - HGNC]
  • NINJ2-AS1:NINJ2 antisense RNA 1 [Gene - HGNC]
  • NOP2:NOP2 nucleolar protein [Gene - OMIM - HGNC]
  • NANOG:Nanog homeobox [Gene - OMIM - HGNC]
  • PIANP:PILR alpha associated neural protein [Gene - OMIM - HGNC]
  • PPFIBP1:PPFIA binding protein 1 [Gene - OMIM - HGNC]
  • PZP:PZP alpha-2-macroglobulin like [Gene - OMIM - HGNC]
  • REP15:RAB15 effector protein [Gene - OMIM - HGNC]
  • RAD51AP1:RAD51 associated protein 1 [Gene - OMIM - HGNC]
  • RAD52:RAD52 homolog, DNA repair protein [Gene - OMIM - HGNC]
  • RHNO1:RAD9-HUS1-RAD1 interacting nuclear orphan 1 [Gene - OMIM - HGNC]
  • RERG:RAS like estrogen regulated growth inhibitor [Gene - OMIM - HGNC]
  • RERGL:RERG like [Gene - HGNC]
  • RASSF8:Ras association domain family member 8 [Gene - OMIM - HGNC]
  • RECQL:RecQ like helicase [Gene - OMIM - HGNC]
  • ARHGDIB:Rho GDP dissociation inhibitor beta [Gene - OMIM - HGNC]
  • SINHCAF:SIN3-HDAC complex associated factor [Gene - OMIM - HGNC]
  • SOX5:SRY-box transcription factor 5 [Gene - OMIM - HGNC]
  • ST8SIA1:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 [Gene - OMIM - HGNC]
  • TAPBPL:TAP binding protein like [Gene - OMIM - HGNC]
  • TEAD4:TEA domain transcription factor 4 [Gene - OMIM - HGNC]
  • TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
  • TIGAR:TP53 induced glycolysis regulatory phosphatase [Gene - OMIM - HGNC]
  • TULP3:TUB like protein 3 [Gene - OMIM - HGNC]
  • WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
  • WBP11:WW domain binding protein 11 [Gene - OMIM - HGNC]
  • WNT5B:Wnt family member 5B [Gene - OMIM - HGNC]
  • YBX3:Y-box binding protein 3 [Gene - OMIM - HGNC]
  • ACRBP:acrosin binding protein [Gene - OMIM - HGNC]
  • ATF7IP:activating transcription factor 7 interacting protein [Gene - OMIM - HGNC]
  • AICDA:activation induced cytidine deaminase [Gene - OMIM - HGNC]
  • ACSM4:acyl-CoA synthetase medium chain family member 4 [Gene - OMIM - HGNC]
  • ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
  • A2ML1:alpha-2-macroglobulin like 1 [Gene - OMIM - HGNC]
  • A2M:alpha-2-macroglobulin [Gene - OMIM - HGNC]
  • ANO2:anoctamin 2 [Gene - OMIM - HGNC]
  • AMN1:antagonist of mitotic exit network 1 homolog [Gene - HGNC]
  • APOBEC1:apolipoprotein B mRNA editing enzyme catalytic subunit 1 [Gene - OMIM - HGNC]
  • APOLD1:apolipoprotein L domain containing 1 [Gene - OMIM - HGNC]
  • ATN1:atrophin 1 [Gene - OMIM - HGNC]
  • BMAL2:basic helix-loop-helix ARNT like 2 [Gene - OMIM - HGNC]
  • BHLHE41:basic helix-loop-helix family member e41 [Gene - OMIM - HGNC]
  • B4GALNT3:beta-1,4-N-acetyl-galactosaminyltransferase 3 [Gene - OMIM - HGNC]
  • BCAT1:branched chain amino acid transaminase 1 [Gene - OMIM - HGNC]
  • CREBL2:cAMP responsive element binding protein like 2 [Gene - OMIM - HGNC]
  • CRACR2A:calcium release activated channel regulator 2A [Gene - OMIM - HGNC]
  • CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • CLSTN3:calsyntenin 3 [Gene - OMIM - HGNC]
  • CAPZA3:capping actin protein of muscle Z-line subunit alpha 3 [Gene - OMIM - HGNC]
  • CAPRIN2:caprin family member 2 [Gene - OMIM - HGNC]
  • CDCA3:cell division cycle associated 3 [Gene - OMIM - HGNC]
  • CHD4:chromodomain helicase DNA binding protein 4 [Gene - OMIM - HGNC]
  • C12orf4:chromosome 12 open reading frame 4 [Gene - OMIM - HGNC]
  • C12orf57:chromosome 12 open reading frame 57 [Gene - OMIM - HGNC]
  • C12orf60:chromosome 12 open reading frame 60 [Gene - HGNC]
  • C12orf71:chromosome 12 open reading frame 71 [Gene - HGNC]
  • CCDC77:coiled-coil domain containing 77 [Gene - HGNC]
  • CCDC91:coiled-coil domain containing 91 [Gene - OMIM - HGNC]
  • C1RL:complement C1r subcomponent like [Gene - OMIM - HGNC]
  • C1R:complement C1r [Gene - OMIM - HGNC]
  • C1S:complement C1s [Gene - OMIM - HGNC]
  • C3AR1:complement C3a receptor 1 [Gene - OMIM - HGNC]
  • CCND2:cyclin D2 [Gene - OMIM - HGNC]
  • CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
  • CMAS:cytidine monophosphate N-acetylneuraminic acid synthetase [Gene - OMIM - HGNC]
  • DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
  • DERA:deoxyribose-phosphate aldolase [Gene - OMIM - HGNC]
  • DPPA3:developmental pluripotency associated 3 [Gene - OMIM - HGNC]
  • DUSP16:dual specificity phosphatase 16 [Gene - OMIM - HGNC]
  • DYRK4:dual specificity tyrosine phosphorylation regulated kinase 4 [Gene - OMIM - HGNC]
  • DNM1L:dynamin 1 like [Gene - OMIM - HGNC]
  • DNAI7:dynein axonemal intermediate chain 7 [Gene - OMIM - HGNC]
  • ETFRF1:electron transfer flavoprotein regulatory factor 1 [Gene - HGNC]
  • ETFBKMT:electron transfer flavoprotein subunit beta lysine methyltransferase [Gene - OMIM - HGNC]
  • ERP27:endoplasmic reticulum protein 27 [Gene - OMIM - HGNC]
  • ENO2:enolase 2 [Gene - OMIM - HGNC]
  • EPS8:epidermal growth factor receptor pathway substrate 8 [Gene - OMIM - HGNC]
  • EMP1:epithelial membrane protein 1 [Gene - OMIM - HGNC]
  • ETNK1:ethanolamine kinase 1 [Gene - OMIM - HGNC]
  • FAM234B:family with sequence similarity 234 member B [Gene - OMIM - HGNC]
  • FAM90A1:family with sequence similarity 90 member A1 [Gene - OMIM - HGNC]
  • FAR2:fatty acyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • FGF23:fibroblast growth factor 23 [Gene - OMIM - HGNC]
  • FGF6:fibroblast growth factor 6 [Gene - OMIM - HGNC]
  • FOXJ2:forkhead box J2 [Gene - OMIM - HGNC]
  • FOXM1:forkhead box M1 [Gene - OMIM - HGNC]
  • GSG1:germ cell associated 1 [Gene - HGNC]
  • GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]
  • GAPDH:glyceraldehyde-3-phosphate dehydrogenase [Gene - OMIM - HGNC]
  • GYS2:glycogen synthase 2 [Gene - OMIM - HGNC]
  • GOLT1B:golgi transport 1B [Gene - OMIM - HGNC]
  • GDF3:growth differentiation factor 3 [Gene - OMIM - HGNC]
  • GUCY2C:guanylate cyclase 2C [Gene - OMIM - HGNC]
  • HEBP1:heme binding protein 1 [Gene - OMIM - HGNC]
  • IPO8:importin 8 [Gene - OMIM - HGNC]
  • ING4:inhibitor of growth family member 4 [Gene - OMIM - HGNC]
  • IRAG2:inositol 1,4,5-triphosphate receptor associated 2 [Gene - OMIM - HGNC]
  • ITPR2:inositol 1,4,5-trisphosphate receptor type 2 [Gene - OMIM - HGNC]
  • INTS13:integrator complex subunit 13 [Gene - OMIM - HGNC]
  • ITFG2:integrin alpha FG-GAP repeat containing 2 [Gene - OMIM - HGNC]
  • IFFO1:intermediate filament family orphan 1 [Gene - OMIM - HGNC]
  • IAPP:islet amyloid polypeptide [Gene - OMIM - HGNC]
  • KLHL42:kelch like family member 42 [Gene - OMIM - HGNC]
  • KLRB1:killer cell lectin like receptor B1 [Gene - OMIM - HGNC]
  • KLRC1:killer cell lectin like receptor C1 [Gene - OMIM - HGNC]
  • KLRC2:killer cell lectin like receptor C2 [Gene - OMIM - HGNC]
  • KLRC3:killer cell lectin like receptor C3 [Gene - OMIM - HGNC]
  • KLRC4:killer cell lectin like receptor C4 [Gene - OMIM - HGNC]
  • KLRD1:killer cell lectin like receptor D1 [Gene - OMIM - HGNC]
  • KLRF1:killer cell lectin like receptor F1 [Gene - OMIM - HGNC]
  • KLRF2:killer cell lectin like receptor F2 [Gene - OMIM - HGNC]
  • KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]
  • KLRK1:killer cell lectin like receptor K1 [Gene - OMIM - HGNC]
  • LDHB:lactate dehydrogenase B [Gene - OMIM - HGNC]
  • LMNTD1:lamin tail domain containing 1 [Gene - OMIM - HGNC]
  • LRRC23:leucine rich repeat containing 23 [Gene - HGNC]
  • LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
  • LINC02909:long intergenic non-protein coding RNA 2909 [Gene - HGNC]
  • LAG3:lymphocyte activating 3 [Gene - OMIM - HGNC]
  • LTBR:lymphotoxin beta receptor [Gene - OMIM - HGNC]
  • KDM5A:lysine demethylase 5A [Gene - OMIM - HGNC]
  • LPAR5:lysophosphatidic acid receptor 5 [Gene - OMIM - HGNC]
  • LPCAT3:lysophosphatidylcholine acyltransferase 3 [Gene - OMIM - HGNC]
  • MAGOHB:mago homolog B, exon junction complex subunit [Gene - OMIM - HGNC]
  • M6PR:mannose-6-phosphate receptor, cation dependent [Gene - OMIM - HGNC]
  • MGP:matrix Gla protein [Gene - OMIM - HGNC]
  • MED21:mediator complex subunit 21 [Gene - OMIM - HGNC]
  • MIR141:microRNA 141 [Gene - OMIM - HGNC]
  • MIR200C:microRNA 200c [Gene - OMIM - HGNC]
  • MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]
  • MGST1:microsomal glutathione S-transferase 1 [Gene - OMIM - HGNC]
  • MRPL51:mitochondrial ribosomal protein L51 [Gene - OMIM - HGNC]
  • MRPS35:mitochondrial ribosomal protein S35 [Gene - OMIM - HGNC]
  • MLF2:myeloid leukemia factor 2 [Gene - OMIM - HGNC]
  • NTF3:neurotrophin 3 [Gene - OMIM - HGNC]
  • NINJ2:ninjurin 2 [Gene - OMIM - HGNC]
  • NCAPD2:non-SMC condensin I complex subunit D2 [Gene - OMIM - HGNC]
  • NRIP2:nuclear receptor interacting protein 2 [Gene - HGNC]
  • OVCH1:ovochymase 1 [Gene - HGNC]
  • OLR1:oxidized low density lipoprotein receptor 1 [Gene - OMIM - HGNC]
  • PTMS:parathymosin [Gene - OMIM - HGNC]
  • PTHLH:parathyroid hormone like hormone [Gene - OMIM - HGNC]
  • PEX5:peroxisomal biogenesis factor 5 [Gene - OMIM - HGNC]
  • PIK3C2G:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma [Gene - OMIM - HGNC]
  • PDE3A:phosphodiesterase 3A [Gene - OMIM - HGNC]
  • PDE6H:phosphodiesterase 6H [Gene - OMIM - HGNC]
  • PLBD1:phospholipase B domain containing 1 [Gene - OMIM - HGNC]
  • PLCZ1:phospholipase C zeta 1 [Gene - OMIM - HGNC]
  • PKP2:plakophilin 2 [Gene - OMIM - HGNC]
  • PLEKHG6:pleckstrin homology and RhoGEF domain containing G6 [Gene - OMIM - HGNC]
  • PLEKHA5:pleckstrin homology domain containing A5 [Gene - OMIM - HGNC]
  • PARP11:poly(ADP-ribose) polymerase family member 11 [Gene - OMIM - HGNC]
  • PHC1:polyhomeotic homolog 1 [Gene - OMIM - HGNC]
  • GALNT8:polypeptide N-acetylgalactosaminyltransferase 8 [Gene - OMIM - HGNC]
  • KCNJ8:potassium inwardly rectifying channel subfamily J member 8 [Gene - OMIM - HGNC]
  • KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
  • KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
  • KCNA6:potassium voltage-gated channel subfamily A member 6 [Gene - OMIM - HGNC]
  • PHB2:prohibitin 2 [Gene - OMIM - HGNC]
  • PRR4:proline rich 4 [Gene - OMIM - HGNC]
  • PRB1:proline rich protein BstNI subfamily 1 [Gene - OMIM - HGNC]
  • PRB2:proline rich protein BstNI subfamily 2 [Gene - OMIM - HGNC]
  • PRB3:proline rich protein BstNI subfamily 3 [Gene - OMIM - HGNC]
  • PRB4:proline rich protein BstNI subfamily 4 [Gene - OMIM - HGNC]
  • PRH1:proline rich protein HaeIII subfamily 1 [Gene - OMIM - HGNC]
  • PRH2:proline rich protein HaeIII subfamily 2 [Gene - OMIM - HGNC]
  • P3H3:prolyl 3-hydroxylase 3 [Gene - OMIM - HGNC]
  • PRMT8:protein arginine methyltransferase 8 [Gene - OMIM - HGNC]
  • PTPN6:protein tyrosine phosphatase non-receptor type 6 [Gene - OMIM - HGNC]
  • PTPRO:protein tyrosine phosphatase receptor type O [Gene - OMIM - HGNC]
  • PYROXD1:pyridine nucleotide-disulphide oxidoreductase domain 1 [Gene - OMIM - HGNC]
  • RBP5:retinol binding protein 5 [Gene - OMIM - HGNC]
  • RESF1:retroelement silencing factor 1 [Gene - OMIM - HGNC]
  • RIMKLB:ribosomal modification protein rimK like family member B [Gene - OMIM - HGNC]
  • SSPN:sarcospan [Gene - OMIM - HGNC]
  • STK38L:serine/threonine kinase 38 like [Gene - OMIM - HGNC]
  • STRAP:serine/threonine kinase receptor associated protein [Gene - OMIM - HGNC]
  • STYK1:serine/threonine/tyrosine kinase 1 [Gene - OMIM - HGNC]
  • SMCO2:single-pass membrane protein with coiled-coil domains 2 [Gene - HGNC]
  • SMCO3:single-pass membrane protein with coiled-coil domains 3 [Gene - HGNC]
  • SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
  • SLC15A5:solute carrier family 15 member 5 [Gene - OMIM - HGNC]
  • SLC2A14:solute carrier family 2 member 14 [Gene - OMIM - HGNC]
  • SLC2A3:solute carrier family 2 member 3 [Gene - OMIM - HGNC]
  • SLC6A12:solute carrier family 6 member 12 [Gene - OMIM - HGNC]
  • SLC6A13:solute carrier family 6 member 13 [Gene - OMIM - HGNC]
  • SLCO1A2:solute carrier organic anion transporter family member 1A2 [Gene - OMIM - HGNC]
  • SLCO1B1:solute carrier organic anion transporter family member 1B1 [Gene - OMIM - HGNC]
  • SLCO1B3:solute carrier organic anion transporter family member 1B3 [Gene - OMIM - HGNC]
  • SLCO1B7:solute carrier organic anion transporter family member 1B7 (putative) [Gene - HGNC]
  • SLCO1C1:solute carrier organic anion transporter family member 1C1 [Gene - OMIM - HGNC]
  • SPX:spexin hormone [Gene - OMIM - HGNC]
  • SPSB2:splA/ryanodine receptor domain and SOCS box containing 2 [Gene - OMIM - HGNC]
  • SYT10:synaptotagmin 10 [Gene - HGNC]
  • TAS2R10:taste 2 receptor member 10 [Gene - OMIM - HGNC]
  • TAS2R13:taste 2 receptor member 13 [Gene - OMIM - HGNC]
  • TAS2R14:taste 2 receptor member 14 [Gene - OMIM - HGNC]
  • TAS2R19:taste 2 receptor member 19 [Gene - OMIM - HGNC]
  • TAS2R20:taste 2 receptor member 20 [Gene - OMIM - HGNC]
  • TAS2R30:taste 2 receptor member 30 [Gene - OMIM - HGNC]
  • TAS2R31:taste 2 receptor member 31 [Gene - OMIM - HGNC]
  • TAS2R42:taste 2 receptor member 42 [Gene - OMIM - HGNC]
  • TAS2R43:taste 2 receptor member 43 [Gene - OMIM - HGNC]
  • TAS2R46:taste 2 receptor member 46 [Gene - OMIM - HGNC]
  • TAS2R50:taste 2 receptor member 50 [Gene - OMIM - HGNC]
  • TAS2R7:taste 2 receptor member 7 [Gene - OMIM - HGNC]
  • TAS2R8:taste 2 receptor member 8 [Gene - OMIM - HGNC]
  • TAS2R9:taste 2 receptor member 9 [Gene - OMIM - HGNC]
  • TSPAN11:tetraspanin 11 [Gene - HGNC]
  • TSPAN9:tetraspanin 9 [Gene - OMIM - HGNC]
  • TM7SF3:transmembrane 7 superfamily member 3 [Gene - OMIM - HGNC]
  • TMTC1:transmembrane O-mannosyltransferase targeting cadherins 1 [Gene - OMIM - HGNC]
  • TMEM52B:transmembrane protein 52B [Gene - HGNC]
  • TPI1:triosephosphate isomerase 1 [Gene - OMIM - HGNC]
  • YARS2:tyrosyl-tRNA synthetase 2 [Gene - OMIM - HGNC]
  • USP5:ubiquitin specific peptidase 5 [Gene - OMIM - HGNC]
  • VAMP1:vesicle associated membrane protein 1 [Gene - OMIM - HGNC]
  • VWF:von Willebrand factor [Gene - OMIM - HGNC]
  • ZNF384:zinc finger protein 384 [Gene - OMIM - HGNC]
  • ZNF705A:zinc finger protein 705A [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p13.33-q11
Genomic location:
Chr12: 274676 - 37869301 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001166028Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Nov 1, 2018)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001166028.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 14, 2023