S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 58

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
F2Y44CProthrombin deficiency, congenitalPathogenic
(Jun 1, 2009)
no assertion criteria providedVCV000029851
2.
GRCh37:
Chr11:46740830
GRCh38:
Chr11:46719280
F2Hereditary factor II deficiency disease, Venous thrombosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304805
3.
GRCh37:
Chr11:46740871
GRCh38:
Chr11:46719321
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304806
4.
GRCh37:
Chr11:46744726
GRCh38:
Chr11:46723176
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304807
5.
GRCh37:
Chr11:46744768
GRCh38:
Chr11:46723218-46723219
F2F2-Related DisordersUncertain significance
(Nov 30, 2018)
criteria provided, single submitterVCV000631659
6.
GRCh37:
Chr11:46744925
GRCh38:
Chr11:46723375
F2Hereditary factor II deficiency disease, not specified, Venous thrombosis
Benign/Likely benign
(Jan 20, 2016)
criteria provided, multiple submitters, no conflictsVCV000256315
7.
GRCh37:
Chr11:46744971-46744972
GRCh38:
Chr11:46723421-46723422
F2Prothrombin deficiency, congenitalPathogenic
(Jun 20, 2012)
no assertion criteria providedVCV000013309
8.
GRCh37:
Chr11:46744989
GRCh38:
Chr11:46723439
F2not specified, Venous thrombosis, Hereditary factor II deficiency disease
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000256316
9.
GRCh37:
Chr11:46745003
GRCh38:
Chr11:46723453
F2T165Mnot specified, Hereditary factor II deficiency disease, Venous thrombosis
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000256317
10.
GRCh37:
Chr11:46745073
GRCh38:
Chr11:46723523
F2Hereditary factor II deficiency disease, Venous thrombosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304808
11.
GRCh37:
Chr11:46747447
GRCh38:
Chr11:46725897
F2E157K, E200KPROTHROMBIN TYPE 3Pathogenic
(Jun 1, 1983)
no assertion criteria providedVCV000013302
12.
GRCh37:
Chr11:46747579
GRCh38:
Chr11:46726029
F2A244SVenous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304809
13.
GRCh37:
Chr11:46747583
GRCh38:
Chr11:46726033
F2Malignant tumor of prostateUncertain significanceno assertion criteria providedVCV000161469
14.
GRCh37:
Chr11:46747647
GRCh38:
Chr11:46726097
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304810
15.
GRCh37:
Chr11:46747662
GRCh38:
Chr11:46726112
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304811
16.
GRCh37:
Chr11:46748055
GRCh38:
Chr11:46726505
F2Hereditary factor II deficiency disease, Venous thrombosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304812
17.
GRCh37:
Chr11:46748088
GRCh38:
Chr11:46726538
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304813
18.
GRCh37:
Chr11:46748113
GRCh38:
Chr11:46726563
F2R271C, R314CHereditary factor II deficiency diseasePathogenic
(Nov 15, 1986)
no assertion criteria providedVCV000013303
19.
GRCh37:
Chr11:46748151
GRCh38:
Chr11:46726601
F2Hereditary factor II deficiency disease, Venous thrombosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304814
20.
GRCh37:
Chr11:46748165
GRCh38:
Chr11:46726615
F2S331LVenous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304815
21.
GRCh37:
Chr11:46748284
GRCh38:
Chr11:46726734
F2E300K, E343KHereditary factor II deficiency diseasePathogenic
(Jan 1, 2000)
no assertion criteria providedVCV000013311
22.
GRCh37:
Chr11:46748311
GRCh38:
Chr11:46726761
F2E309K, E352KHereditary factor II deficiency diseasePathogenic
(Jan 1, 2000)
no assertion criteria providedVCV000013312
23.
GRCh37:
Chr11:46749554
GRCh38:
Chr11:46728004
F2M337T, M380THereditary factor II deficiency diseasePathogenic
(Nov 1, 1992)
no assertion criteria providedVCV000013307
24.
GRCh37:
Chr11:46749648
GRCh38:
Chr11:46728098
F2Hereditary factor II deficiency disease, not specified, Venous thrombosis
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000256312
25.
GRCh37:
Chr11:46749688
GRCh38:
Chr11:46728138
F2R382C, R425CHereditary factor II deficiency diseasePathogenic
(Apr 1, 1992)
no assertion criteria providedVCV000013305
26.
GRCh37:
Chr11:46749689
GRCh38:
Chr11:46728139
F2R382H, R425HHereditary factor II deficiency diseasePathogenic
(Aug 15, 2002)
no assertion criteria providedVCV000013313
27.
GRCh37:
Chr11:46749707
GRCh38:
Chr11:46728157
F2R388H, R431HDYSPROTHROMBINEMIA PROTHROMBIN HIMI-IIPathogenic
(Nov 1, 1992)
no assertion criteria providedVCV000013308
28.
GRCh37:
Chr11:46750296
GRCh38:
Chr11:46728746
F2R418W, R461WHereditary factor II deficiency diseasePathogenic
(Jun 1, 2009)
no assertion criteria providedVCV000013304
29.
GRCh37:
Chr11:46750379
GRCh38:
Chr11:46728829
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304816
30.
GRCh37:
Chr11:46750396
GRCh38:
Chr11:46728846
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304817
31.
GRCh37:
Chr11:46750998
GRCh38:
Chr11:46729448
F2N514SVenous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304818
32.
GRCh37:
Chr11:46751024
GRCh38:
Chr11:46729474
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304819
33.
GRCh37:
Chr11:46751059
GRCh38:
Chr11:46729509
F2Venous thrombosis, Hereditary factor II deficiency disease, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000256313
34.
GRCh37:
Chr11:46751078
GRCh38:
Chr11:46729528
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304820
35.
GRCh37:
Chr11:46751085
GRCh38:
Chr11:46729535
F2R543LHereditary factor II deficiency disease, Venous thrombosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304821
36.
GRCh37:
Chr11:46760756
GRCh38:
Chr11:46739206
F2Venous thrombosisUncertain significance
(Aug 14, 2014)
no assertion criteria providedVCV000143996
37.
GRCh37:
Chr11:46760874
GRCh38:
Chr11:46739324
F2D552E, D595EHereditary factor II deficiency diseasePathogenic
(Mar 1, 2006)
no assertion criteria providedVCV000013314
38.
GRCh37:
Chr11:46760876
GRCh38:
Chr11:46739326
F2R596LVenous thrombosisConflicting interpretations of pathogenicity
(Aug 14, 2014)
no assertion criteria providedVCV000031922
39.
GRCh37:
Chr11:46760891
GRCh38:
Chr11:46739341
F2G558V, G601VHereditary factor II deficiency diseasePathogenic
(Mar 7, 1989)
no assertion criteria providedVCV000013306
40.
GRCh37:
Chr11:46760903-46760904
GRCh38:
Chr11:46739353-46739354
F2F2-Related DisordersUncertain significance
(Sep 11, 2017)
criteria provided, single submitterVCV000627262
41.
GRCh37:
Chr11:46760904
GRCh38:
Chr11:46739354
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304822
42.
GRCh37:
Chr11:46760913
GRCh38:
Chr11:46739363
F2not specifiedBenigncriteria provided, single submitterVCV000256314
43.
GRCh37:
Chr11:46761002
GRCh38:
Chr11:46739452
F2Venous thrombosis, Hereditary factor II deficiency diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304823
44.
GRCh37:
Chr11:46761054
GRCh38:
Chr11:46739504
F2Venous thrombosisUncertain significance
(Aug 14, 2014)
no assertion criteria providedVCV000143995
45.
GRCh37:
Chr11:46761055
GRCh38:
Chr11:46739505
F2Pregnancy loss, recurrent, susceptibility to, 2, Venous thrombosis, Prothrombin deficiency, congenital,
Ischemic stroke, susceptibility to
Pathogenic
(Aug 10, 2015)
criteria provided, multiple submitters, no conflictsVCV000013310
46.
GRCh37:
Chr11:46761250
GRCh38:
Chr11:46739700
F2not specifiedLikely benigncriteria provided, single submitterVCV000256311
47.
GRCh37:
Chr11:70864-134938470
SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, TMEM216, BET1L, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, PLAAT2, LAMTOR1, USP47, VPS37C, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LINC02743, TRIM64C, SNORA3B, LOC692247, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LINC02714, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, RIC8A, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, ODF3, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, FTH1, FUT4, SLC37A4, LRRC32, GAS2, CBLIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, PLAAT5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, KBTBD3, CWF19L2, POGLUT3, LAYN, TTC36, SPINDOC, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, SCGB1C1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, RAG1, RAG2, RAPSN, PLAAT4, RBM4, RCN1, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TLCD5, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, NXF1, DEAF1, KAT5, HYOU1, IPO7, ZNRD2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLAAT3, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000613238
48.
GRCh37:
Chr11:198510-134934063
FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, CBLIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, VPS26B, GLB1L3, CDCA5, SAAL1, ODF3, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, PLAAT5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, POGLUT3, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TLCD5, MRPL21, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, PLAAT4, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, ZNRD2, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLAAT3, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LINC02743, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LINC02714, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, BET1L, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, PLAAT2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, RIC8A, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, ACAT1, ACP2, ACRV1, ACTN3, ADM, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000600712
49.
GRCh37:
Chr11:46502259-46745473
ARHGAP1, F2, ATG13, AMBRA1, ZNF408, HARBI1not providedUncertain significance
(May 7, 2018)
no assertion criteria providedVCV000563831
50.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, CBLIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, PLAAT4, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, ZNRD2, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLAAT3, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, PLAAT2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, PLAAT5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, POGLUT3, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TLCD5, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LINC02743, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LINC02714, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441904
51.
GRCh37:
Chr11:230616-134938470
OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LINC02743, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LINC02714, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473, ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, CBLIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, PLAAT4, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, ZNRD2, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLAAT3, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, PLAAT2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, PLAAT5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, POGLUT3, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TLCD5, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441903
52.
GRCh37:
Chr11:42475897-48372559
See casesPathogenicno assertion criteria providedVCV000396721
53.
GRCh37:
Chr11:26574629-50508019
See casesPathogenicno assertion criteria providedVCV000396405
54.
GRCh37:
Chr11:46442505-46749922
GRCh38:
Chr11:46420955-46728372
MIR3160-2, MIR3160-1, ARHGAP1, F2, ATG13, AMBRA1, ZNF408, HARBI1See casesUncertain significance
(Apr 30, 2011)
no assertion criteria providedVCV000152826
55.
GRCh37:
Chr11:42749105-49157287
GRCh38:
Chr11:42727555-49135735
See casesLikely pathogenic
(Aug 2, 2012)
no assertion criteria providedVCV000150595
56.
GRCh37:
Chr11:39200802-49157287
GRCh38:
Chr11:39179252-49135735