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Results: 1 to 20 of 26

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
See casesLikely pathogenic
(Jun 4, 2013)
classified by single submitter762977012 - 66848675
2.
See casesPathogenic
(Jan 14, 2011)
classified by single submitter762736364 - 75432710
3.
See casesPathogenic
(Mar 10, 2014)
classified by single submitter762977085 - 75415352
4.
ASL, GUSB, TPST1, CRCP, RABGEF1, VKORC1L1, KCTD7, LINC00174, LOC100996437See casesLikely benign
(Aug 14, 2012)
classified by single submitter765835271 - 66837033
5.
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, DFNA5, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, GBAS, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2P1, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SHFM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, PSPHP1, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5J2, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, , ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, , AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, FTSJ2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, , ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, CCDC132, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, , RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, WBSCR17, TMEM168, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, UPK3B, EEPD1, KDM7A, OR2AE1, VOPP1, WBSCR16, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MYH16, FAM188B, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, WBSCR22, PSMG3-AS1, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, WBSCR28, TRIM50, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, , PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, C7orf60, CLEC2L, C7orf55, VKORC1L1, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, WBSCR27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, , PAXIP1-AS1, C7orf33, TMEM184A, SAMD9L, C7orf62, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, C7orf71, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR1L, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LOC401312, LOC401320, LINC00997, LOC401324, C7orf65, LINC01446, LOC401357, LRRD1, C7orf76, LINC00998, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, FLJ44511, , OR2A2, LOC442497, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, MIR490, CYP51A1-AS1, SEPT7P2, ZNF862, WIPF3, MNX1-AS1, LHFPL3-AS1, LOC646762, C7orf73, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, ZNF736, GATSL2, SPDYE6, UMAD1, ISPD, TMEM229A, , LUZP6, MIR671, TSL, POM121C, HECW1-IT1, JAZF1-AS1, , LOC100128317, LOC100128364, CTAGE4, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129603, PCOLCE-AS1, LOC100130705, EFCAB10, LOC100130880, C7orf72, ZNF316, WDR86-AS1, , LOC100133091, HOXA-AS3, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, UPK3BL, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-8, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, LOC100240728, RASA4B, SMKR1, LOC100287704, LOC100287834, WI2-2373I1.2, GS1-259H13.2, LOC100289561, ZNF783, MIR1200, MIR1183, MIR1302-6, MIR548N, MIR1285-1, SPDYE2B, ANKRD61, MIR548O, MIR548F4, HOTTIP, SAP25, MIR4283-2, MIR4285, MIR4283-1, MIR3147, MIR4284, MIR3146, MTRNR2L6, MIR3654, MIR3609, MIR3943, MIR550B2, MIR3907, MIR3914-1, MIR550B1, MIR3683, MIR3666, MIR3914-2, PRKAG2-AS1, SPDYE18, APTR, MAGI2-AS3, LINC00972, LOC100505921, LOC100505938, ISPD-AS1, LRRC72, LINC01005, LOC100506136, LOC100506178, LOC100506302, HOTAIRM1, LINC01006, DOCK4-AS1, LOC100506497, LINC01176, LINC01007, LOC100506585, LOC100506682, LOC100506725, TRG-AS1, LOC100506860, MKLN1-AS, LOC100506895, TMEM178B, LOC100507468, EGFR-AS1, LOC100507642, ATP5J2-PTCD1, INMT-FAM188B, GIMAP1-GIMAP5, RBAK-RBAKDN, HOXA10-HOXA9, URGCP-MRPS24, MIR4648, MIR4653, MIR4655, MIR4652, MIR4468, MIR4651, MIR4650-1, MIR4650-2, MIR4649, MIR550A3, MIR4467, MIR4657, MIR4658, MIR4656, LOC100630923, LOC100653233, KLHL7-AS1, MIR5692C2, MIR5707, MIR5692A1, MIR5090, ELMO1-AS1, POU6F2-AS1, CYP3A7-CYP3A51P, RNU6-10P, MAGI2-AS2, MACC1-AS1, STEAP2-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, LOC100996249, LINC01510, LOC100996437, LOC100996654, SPDYE11, C7orf55-LUC7L2, EVX1-AS, STAG3L5P-PVRIG2P-PILRB, LOC101926943, LOC101926963, LOC101927021, ELFN1-AS1, LOC101927181, LOC101927243, LOC101927269, LOC101927354, LOC101927356, LOC101927378, LOC101927391, LOC101927446, LOC101927497, MEOX2-AS1, LOC101927550, LOC101927630, ZASP, LOC101927668, LOC101927746, LOC101927769, LOC101927811, LOC101927870, LOC101927914, LOC101928012, LOC101928036, LOC101928168, LOC101928211, LOC101928254, LOC101928283, LOC101928333, LOC101928401, OR2A1-AS1, SEPT7-AS1, LOC101928605, LOC101928618, LOC101928700, LINC01450, LINC01449, LOC101928782, LINC01448, LOC101928861, LINC01447, LINC01372, MIR6133, MIR6509, MIR6836, MIR6838, MIR6839, MIR6892, MIR6874, MIR6132, MIR6840, MIR6875, MIR6837, LOC102659288, GHET1, LOC102723427, SPDYE16, LINC01445, SPDYE17, LOC102723885, LOC102724094, LOC102724187, LINC01393, LOC102724434, LOC102724484, LOC102724555, ELDR, LINC01287, LINC01162, LINC01392
See casesPathogenic
(Jul 30, 2009)
classified by single submitter754185 - 159282390
6.
KCTD7not providedGMAF:0.00100(A)Benign
(May 20, 2014)
classified by single submitter766638322
7.
KCTD7not providedBenign
(Mar 5, 2014)
classified by single submitter766629016
8.
KCTD7not providedBenign
(Mar 3, 2014)
classified by single submitter
9.
KCTD7not providedBenign
(May 14, 2014)
classified by single submitter766639049
10.
KCTD7not specified, not providedGO-ESP:0.00415(T)
GMAF:0.03080(T)
Benign/Likely benign
(Dec 6, 2013)
classified by multiple submitters766639016
11.
KCTD7not specified, not providedGO-ESP:0.08304(A)
GMAF:0.07830(A)
Benign/Likely benign
(Dec 6, 2013)
classified by multiple submitters766633397
12.
KCTD7not providedUncertain significance
(Mar 31, 2014)
classified by single submitter766629197
13.
KCTD7Malignant melanomanot providednot classified by submitter766638864
14.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter753274059 - 68576213
15.
ASL, GUSB, TPST1, CRCP, RABGEF1, VKORC1L1, KCTD7, LINC00174, LOC100996437See casesUncertain significance
(Aug 12, 2011)
classified by single submitter765906534 - 66769743
16.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter764560824 - 79186156
17.
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, DFNA5, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, GBAS, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2P1, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SHFM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, PSPHP1, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5J2, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, , ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, , AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-7, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, FTSJ2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, , ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, CCDC132, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, , RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, WBSCR17, TMEM168, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, UPK3B, EEPD1, KDM7A, OR2AE1, VOPP1, WBSCR16, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MYH16, FAM188B, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, WBSCR22, PSMG3-AS1, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, WBSCR28, TRIM50, OR9A2, C7orf34, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, , PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, C7orf60, CLEC2L, C7orf55, VKORC1L1, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, WBSCR27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, , PAXIP1-AS1, C7orf33, TMEM184A, SAMD9L, C7orf62, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, C7orf71, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR1L, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LOC401312, LOC401320, LINC00997, LOC401324, C7orf65, LINC01446, LOC401357, LRRD1, C7orf76, LINC00998, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, FLJ44511, , OR2A2, LOC442497, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, MIR490, CYP51A1-AS1, SEPT7P2, ZNF862, WIPF3, MNX1-AS1, LHFPL3-AS1, LOC646762, C7orf73, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, ZNF736, GATSL2, SPDYE6, UMAD1, ISPD, TMEM229A, , LUZP6, MIR671, TSL, POM121C, HECW1-IT1, JAZF1-AS1, , LOC100128317, LOC100128364, CTAGE4, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129603, PCOLCE-AS1, LOC100130705, EFCAB10, LOC100130880, C7orf72, ZNF316, WDR86-AS1, , LOC100133091, HOXA-AS3, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, UPK3BL, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-8, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, LOC100240728, RASA4B, SMKR1, LOC100287704, LOC100287834, WI2-2373I1.2, GS1-259H13.2, LOC100289561, ZNF783, MIR1200, MIR1183, MIR1302-6, MIR548N, MIR1285-1, SPDYE2B, ANKRD61, MIR548O, MIR548F4, HOTTIP, SAP25, MIR4283-2, MIR4285, MIR4283-1, MIR3147, MIR4284, MIR3146, MTRNR2L6, MIR3654, MIR3609, MIR3943, MIR550B2, MIR3907, MIR3914-1, MIR550B1, MIR3683, MIR3666, MIR3914-2, PRKAG2-AS1, SPDYE18, APTR, MAGI2-AS3, LINC00972, LOC100505921, LOC100505938, ISPD-AS1, LRRC72, LINC01005, LOC100506136, LOC100506178, LOC100506302, HOTAIRM1, LINC01006, DOCK4-AS1, LOC100506497, LINC01176, LINC01007, LOC100506585, LOC100506682, LOC100506725, TRG-AS1, LOC100506860, MKLN1-AS, LOC100506895, TMEM178B, LOC100507468, EGFR-AS1, LOC100507642, ATP5J2-PTCD1, INMT-FAM188B, GIMAP1-GIMAP5, RBAK-RBAKDN, HOXA10-HOXA9, URGCP-MRPS24, MIR4648, MIR4653, MIR4655, MIR4652, MIR4468, MIR4651, MIR4650-1, MIR4650-2, MIR4649, MIR550A3, MIR4467, MIR4657, MIR4658, MIR4656, LOC100630923, LOC100653233, KLHL7-AS1, MIR5692C2, MIR5707, MIR5692A1, MIR5090, ELMO1-AS1, POU6F2-AS1, CYP3A7-CYP3A51P, RNU6-10P, MAGI2-AS2, MACC1-AS1, STEAP2-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, LOC100996249, LINC01510, LOC100996437, LOC100996654, SPDYE11, C7orf55-LUC7L2, EVX1-AS, STAG3L5P-PVRIG2P-PILRB, LOC101926943, LOC101926963, LOC101927021, ELFN1-AS1, LOC101927181, LOC101927243, LOC101927269, LOC101927354, LOC101927356, LOC101927378, LOC101927391, LOC101927446, LOC101927497, MEOX2-AS1, LOC101927550, LOC101927630, ZASP, LOC101927668, LOC101927746, LOC101927769, LOC101927811, LOC101927870, LOC101927914, LOC101928012, LOC101928036, LOC101928168, LOC101928211, LOC101928254, LOC101928283, LOC101928333, LOC101928401, OR2A1-AS1, SEPT7-AS1, LOC101928605, LOC101928618, LOC101928700, LINC01450, LINC01449, LOC101928782, LINC01448, LOC101928861, LINC01447, LINC01372, MIR6133, MIR6509, MIR6836, MIR6838, MIR6839, MIR6892, MIR6874, MIR6132, MIR6840, MIR6875, MIR6837, LOC102659288, GHET1, LOC102723427, SPDYE16, LINC01445, SPDYE17, LOC102723885, LOC102724094, LOC102724187, LINC01393, LOC102724434, LOC102724484, LOC102724555, ELDR, LINC01287, LINC01162, LINC01392
See casesPathogenic
(Aug 12, 2011)
classified by single submitter753985 - 159282531
18.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter762570287 - 67823956
19.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter764657050 - 72243063
20.
KCTD7Epilepsy, progressive myoclonic 3Pathogenic
(Jan 20, 2015)
classified by single submitter766638260

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