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GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000240164.1

Allele description [Variation Report for GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4]

GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)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:
12p13.33-11.1
Genomic location:
Chr12: 148034 - 34178799 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4
HGVS:

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000298562GeneDx
    criteria provided, single submitter

    (GeneDx Variant Classification (06012015))    		Pathogenic
    (Jan 20, 2016)     		unknownclinical testing

    Citation Link

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    Summary from all submissions

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

    Details of each submission

    From GeneDx, SCV000298562.1

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

    Last Updated: Oct 14, 2023