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Did you mean FLNC as a gene symbol? Search ClinVar for FLNC

See FLNC filamin C in the Gene database

Search results

Items: 1 to 100 of 2379

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:53985-159075220
GRCh38:
Chr7:53985-159282531
LOC113687192, ERV3-1-ZNF117, LOC113748412, MACC1-DT, TRIM50, LOC110121044, CFTR-AS1, PTPRN2-AS1, TAS2R40, PON1, PSMG3, LOC113219446, LOC102723672, LOC113743974, LOC111365192, LOC101928861, AP5Z1, LOC401324, LOC113748387, FZD1, LOC100287704, C7orf31, POLR2J2-UPK3BL1, FLJ40288, LOC108228208, STARD3NL, LOC113219471, SNORA22C, HOXA3, LOC116183089, LOC110121278, ERVW-1, LOC105375429, TRC-GCA20-1, GALNT11, MIOS, LOC113748420, LOC100287834, CLEC2L, LOC114827814, LOC113687196, GRM3, CPA5, TRBV4-1, LRRC17, ASIC3, DUS4L-BCAP29, LOC121175359, SCRN1, LSM5, GARIN1B, STX1A, AGR2, LOC113523647, YAE1-DT, SPDYE14, MIR10399, TRBV5-7, TRBV7-3, MRPS17, LRRC72, TRBV24-1, KRBA1, SP4, LOC121740701, LOC111674466, MIR595, LOC116183093, LOC113748388, OR2A14, LOC113743972, LOC113748395, LOC110121245, LOC110121097, FIGNL1, GIMAP7, LOC121175347, KCND2, ZNHIT1, LINC02889, MIR3146, FAM131B, TRBV19, ORC5, TSGA13, FAM131B-AS1, UBE2H, LOC111674477, LOC106029311, C1GALT1, TRIL, MIR182, CALD1, TRBJ1-2, DUS4L, LOC110120964, SUMF2, LINC00957, TSL, LOC110121275, TRC-GCA21-1, LOC113748402, PON2, ATP6V1F, LINC02932, RALA, FIS1, LOC121201617, AMZ1, ZASP, CUX1, COPG2IT1, SNORD93, LINC02577, MIR550B2, ZNF107, HBP1, RAPGEF5, PPP1R17, SEC61G, BRAF, COL28A1, MIR3609, LOC113219436, LINC02604, NOS3, TRC-GCA23-1, LOC121740681, TP53TG1, LOC121201620, NUDCD3, IQCE, POU6F2-AS1, ICA1-AS1, LOC121144499, LOC730338, OPN1SW, ARPC1B, TRBV12-3, CCDC126, CEP41, LOC116186906, LOC121175349, TSC22D4-C7ORF61, AKAP9, CAV1, LOC121175343, ABCF2-H2BK1, EPHA1-AS1, LOC110120753, MET, NOD1, BMPER, LOC116183092, PDK4, TRBJ2-6, TEX47, DTX2, CRCP, LOC113687201, EPDR1, TRC-GCA11-1, HERPUD2, PRSS37, LOC111776221, TRGV8, GLCCI1-DT, ANKRD7, GTF2IRD2, KLHL7-DT, PVRIG, LOC113219438, LOC349160, PSMG3-AS1, SRRT, LOC110120961, LOC121740706, GPNMB, C7orf25, PSPH, TRIP6, GNAT3, C7orf50, SBDS, MIR4656, LOC100507642, LOC116186911, MIR10525, LOC101927914, NAMPT, LOC107126281, OCM, PPP1R35, ELDR, TRBJ1-5, ITGB8-AS1, MIR4648, LOC121175369, LOC113225350, KBTBD2, PPP1R3A, LINC01287, RAB19, LOC110121295, FAM200A, LOC113748393, CLEC5A, POMZP3, LOC113687175, LHFPL3, LOC111674479, PRKAR2B-AS1, EGFR-AS1, LINC00525, TYW1B, LOC113748411, LOC111674463, ATP5MF-PTCD1, ATP6V0E2-AS1, TARP, MIR196B, AHR, TECPR1, LOC110120684, LOC728743, KCTD7, TTC26, LOC121740707, PRPS1L1, MIR548F4, VPS50, CLDN4, CCL24, EEPD1, AOAH-IT1, PTN, LHFPL3-AS2, ZNF722, LOC121201614, LOC121740688, LINC00997, AVL9, USP42, HOXA10, MIR589, EMSLR, LOC113748390, LOC113748404, MIR4649, LEP, LFNG, ZSCAN21, LOC100286906, LOC113743973, LOC100507507, TRBV11-1, RNF32, RNF216-IT1, AP1S1, SNORA15B-2, LRWD1, LOC121175362, GSDME, ADCYAP1R1, MNX1-AS2, LOC120766156, GPR37, ZNF398, OR2A42, CNPY1, DOCK4, MIR6839, CDK13-DT, LOC105375218, LOC110120651, MGC27345, LOC110121304, LOC113687182, CREB3L2, HRAT17, FLNC, RBM28, TRGV3, STRA8, MLXIPL, EVX1-AS, GPR141, TRC-GCA18-1, LOC110120786, LOC116186907, TRG-AS1, POU6F2, LOC121175355, LOC102723427, ZNF277, MPLKIP, TMEM120A, LOC121175365, COMETT, LOC110120653, TRBV10-1, HUS1, RHEB, LUZP6, PEX1, LOC113687180, PRR15, TMEM168, GCK, WIPI2, LOC110120618, OR2A5, ZBED6CL, FERD3L, NPVF, FSCN3, MYO1G, LOC113604967, SPDYE8, LOC110120619, CYP3A5, LOC111674473, LOC121175364, ASB15-AS1, TRC-GCA16-1, FAM221A, LOC100134040, ELMO1, HOXA13, LOC110120778, MIR6874, LOC121740699, CYCS, MIR3666, MIR93, LOC113748385, KMT2E-AS1, LOC110121252, LOC110120810, SOSTDC1, SMURF1, JAZF1-AS1, ARHGEF5, LOC113687174, TRC-GCA3-1, LINC02903, YAE1, TRBV3-1, HPVC1, CTAGE8, TRGV5, LOC105375166, PPIA, SDK1, LOC101927354, BET1-AS1, MAGI2-AS3, GLI3, ING3, IKZF1, LRGUK, GHRHR, SLC12A9, ZNF735, ASB15, PGAM2, TMEM176A, LOC111674476, LOC111365161, LOC113219443, LOC113748391, POM121, SNORA9, TBRG4, PNPLA8, IL6, SCIN, TRIM73, LOC121175339, ADCK2, PTTG1IP2, CARD11-AS1, LOC113687177, ZSCAN25, FAM237B, STEAP2-AS1, LOC121175360, LINC01450, RSPH10B2, CZ1P-ASNS, MCM7, ZNF746, PAXIP1-AS2, LINC01445, MIR106B, CBLL1, PCOLCE-AS1, LOC114004407, KLHDC10, SPDYE18, COA1, POLR1F, EIF4H, CYP3A4, LOC100506178, KDM7A, ZC3HAV1L, LOC113687183, LINC01446, APTR, CYP3A7-CYP3A51P, SLC26A4, POLR2J2, LOC113748413, SLC37A3, MTURN, PIK3CG, LOC113687195, MIR1285-1, LOC101928401, LOC106783574, TRBJ1-3, TRBV5-5, LOC107057645, LOC113687193, ZNF800, LOC113687184, LRRC61, LOC111674475, CCT6A, LOC108251801, TMUB1, TRBJ1-4, TRBV5-1, LOC121175338, WNT16, TRBV28, HOTTIP, HOXA11-AS, LUC7L2, POT1, FBXL13, PDE1C, SNORA114, TRBJ1-1, LOC106799845, GPC2, GTF2I-AS1, MUC3A, LOC285889, LOC101928283, LSM8, NEUROD6, TAF6, LOC121175356, LOC110121294, LOC111674478, LOC113687199, SP8, PALS2, LOC113687190, LOC108281146, TMEM225B, LOC121175348, MIR592, WDR91, WASL, LIMK1, LOC113225351, PHTF2, RARRES2, HOXA11, TRG, CROT, LINC01449, NFE4, TRC-GCA9-2, LOC116186914, STK17A, MIR3147, OR9A2, GTF2IRD1, TRBV7-2, ABCF2, LOC116183083, LOC121144504, MIR6836, MGAM2, FAM180A, UBN2, HYAL4, FAM126A, NOBOX, LOC102724434, ST7-AS1, LOC121201616, ALKBH4, MRPS24, OR10AC1, LOC100128317, LOC116186918, SNX13, LOC101927668, TMEM229A, GALNT17, LOC110121291, MIR183, SLC13A1, MIR4652, LOC100506725, LOC101928168, LOC113748400, TPST1, CRYGN, GRM8-AS1, LOC100506682, LOC102725191, LOC121201621, LOC113219433, SBE2, CNOT4, CLDN12, LINC02888, LOC113748419, CFAP69, FLJ20712, GNGT1, HOXA1, TRBV13, VWC2, BUD23, LOC105375483, MIR1302-6, TAC1, ATP6V0A4, LOC120807605, LOC111591504, OR2A7, MIR6875, TMEM130, NUP42, LOC121175351, DNAJB6, LOC116183079, LOC116183087, LOC121175346, LOC100506937, CHN2-AS1, BAZ1B, GET4, LAT2, LOC110121167, LOC100506302, LOC111674471, LOC110121292, ANKRD61, RBAK, LINC00174, TMEM60, LOC121175368, CYP51A1-AS1, TMEM248, RP9, NAT16, ZDHHC4, COPS6, TRW-CCA5-1, ZNF282, DLX5, TRC-GCA12-1, LOC114827835, CHCHD3, ELFN1, LOC101928807, NME8, GAL3ST4, ZNF789, ZNF853, DAGLB, LOC110120749, LINC01448, LOC108254663, GIMAP1-GIMAP5, SNHG15, LOC116183085, MOSPD3, TRC-GCA19-1, PARP12, PIP, ADCY1, MIR3683, ZNF425, PODXL, LOC111413044, SAMD9L, FZD9, SUGCT-AS1, WIPF3, TMEM176B, SMO, LOC116183086, SVOPL, IGFBP1, LOC105369146, TRC-GCA17-1, CT66, KLRG2, CCDC201, TRBJ2-5, GIMAP6, SMKR1, LINC01176, MTERF1, POM121L12, GCC1, BET1, MRPS33, MIOS-DT, LINC02587, PILRA, OR6B1, ZNF273, LOC110121168, MIR29B1, LOC113664106, LOC110121049, LOC100131472, CALU, CHN2, CPED1, LINC01007, ZNF680, SDK1-AS1, AGMO, ZNF736, LOC110120773, LNCPRESS1, PPP1R35-AS1, MAGI2-AS2, TNPO3, RNF32-AS1, RINT1, LOC113748401, LOC113748407, SEPTIN7, BRI3, CDC14C, SSBP1, TMEM270, LOC110120652, LOC110120719, TTYH3, NRF1, INMT-MINDY4, LOC110120649, EXOC4, LOC110121297, AUTS2, CCDC71L, LOC121740692, SPDYE7P, WEE2-AS1, CAV2, SPDYE21, CRHR2, FEZF1, MIR4651, PRKRIP1, LOC110121162, STEAP2, BUD31, MIR96, NDUFB2-AS1, LOC121144500, HERPUD2-AS1, LOC111674465, PRKAG2, LOC110599567, KIAA0895, GPR85, LOC100506497, RBM48, NPY, RAMP3, ZC3HC1, TRBC1, DNAJB9, LOC116186905, VIPR2, LOC110121058, ABCB5, NFE2L3, LOC113633874, LOC107986845, TRBJ2-2, TMEM184A, TRC-GCA22-1, LOC106783492, SNORA5B, LOC110121207, TRC-GCA13-1, LOC113687205, PPP1R9A-AS1, DENND2A, TRBV6-6, SLC12A9-AS1, METTL27, FOXL3-OT1, NXPH1, LOC107986794, NOM1, SNORA15, LOC106728418, SPDYE2, LOC113748418, MIR6509, FAM185A, ZNF212, ZFAND2A, MESTIT1, JAZF1, LOC101927446, H2AZ2-DT, SPDYE13, FEZF1-AS1, MIR4283-1, BCL7B, MIR4653, TRGJP2, MKLN1-AS, GPR22, LOC113748416, URGCP-MRPS24, TSPAN13, LOC105375115, ZNF138, IGFBP3, CDK6-AS1, RAC1, SRPK2, LOC113687206, IQCA1L, LOC113687194, LOC110121006, CDCA7L, GIMAP4, LINC01022, SLC26A4-AS1, RPA3, ZC3HAV1, GARIN1A, POU6F2-AS2, SLC13A4, HOXA6, CRPPA-AS1, PCLO, COX19, MIR12119, LOC121740704, MIR4658, LOC110121066, SPDYE5, LOC116186912, LOC111674470, DBNL, AGK-DT, LOC101928254, AGAP3, ESYT2, CPSF4, LINC02838, KPNA7, GS1-124K5.4, HECW1-IT1, TAS2R60, OR2AE1, METTL2B, EZH2, RBM33, MIR6132, LOC110599592, STEAP1B, UMAD1, LOC121740685, LOC111365177, PURB, LOC113219444, LOC121740687, UPK3B, BBS9, DOCK4-AS1, ST7-OT3, LOC110120687, LOC116186917, LOC113748394, LOC113748414, SPDYE11, LOC110120728, LAMB4, RSPH10B, SLC26A5-AS1, NYAP1, UPK3BL2, ORS8, MIR3943, MACC1-AS1, LINC02902, ZAN, GLCCI1, SERPINE1, ZNF783, RNF32-DT, KMT2C, ZNF727, MIR590, CPA1, LMBR1, CRPPA, ITPRID1, IFRD1, TRBV11-2, MIR335, CYTH3, SNX10, AKR1B15, TRBV7-4, SMIM30, LOC100240728, INMT, LOC121740703, TRC-GCA9-4, SUGCT, LOC113748399, MIR3654, LOC121175352, LOC110120765, TAS2R5, INHBA, ELMO1-AS1, ZNF655, POM121C, ARF5, HIP1, LOC100133091, CLDN3, ATP6V0E2, LOC110973015, TRS-AGA5-1, LOC121175350, ABCB4, KRIT1, POP7, LINC01005, TRGC1, LOC110120590, ZRS, HIPK2, GGCT, AGFG2, LOC100128653, HOXA2, PSMC2, SPDYE17, LOC110121203, OR2A1-AS1, LOC110121185, GPER1, RSBN1L, LOC116183082, REPIN1, FKBP6, ERV3-1, AIMP2, PMPCB, DLX6-AS1, AKR1B10, LOC108228209, SLC29A4, YKT6, LOC110121158, MIR4657, LOC116183090, MALSU1, LOC121175345, LINC00244, MEOX2, LOC113687191, TFEC, LOC113219472, LOC110121030, POT1-AS1, TRBV4-2, LINC00265, INTS1, LOC121144502, DYNC1I1, LOC442497, LOC121144501, MNX1-AS1, RNY3, STAG3L5P-PVRIG2P-PILRB, OR2A25, TFPI2-DT, ARHGEF35, IRF5, CHCHD2, RASA4, LOC110120758, POLR2J3-UPK3BL2, LOC121740690, SEPTIN7-DT, WASL-DT, LOC121740695, LOC113687208, LOC110121115, LUARIS, CNPY4, AOAH, LOC121175367, LOC110121300, TRIM74, PRSS58, SNORA5A, LINC01372, ELAPOR2, LOC101929998, RCC1L, NPSR1-AS1, TSC22D4, KCNH2, TRGJP, TRBV9, LOC110121172, ABCA13, LOC110120813, GIMAP1, COL26A1, GNA12, MIR339, NRCAM, MIR4650-2, LOC113633875, SSMEM1, LAMTOR4, IMMP2L, LOC121740705, SAGSIN1, LOC108281155, ZNF467, LLCFC1, ABHD11-AS1, SEMA3D, SH2B2, THSD7A, LOC113748408, VPS37D, SNX8, LOC101927550, TCAF1, AZGP1, ZPBP, YWHAG, RNY5, H2AZ2, TRB, TRBV14, SNORA15B-1, LOC110121253, LOC113748396, LOC113748386, LOC110120650, LOC113687187, HDAC9, ZNRF2, MDH2, HGF, HOXA10-AS, CTAGE4, COG5, TRBV27, LOC113633877, TMEM243, FMC1, LRCH4, CALN1, PAX4, IMPDH1, NUB1, LOC116186916, COL1A2-AS1, FKBP9, LOC101927378, MICALL2, EPHA1, MMD2, LOC107197952, COBL, LOC110121212, TRGC2, TRBV10-3, ZNF12, LOC113687188, SFRP4, MIR490, AGK, NUDT1, PLEKHA8, LOC113748384, LINC00513, LOC113743975, TFPI2, LOC110121156, GJC3, SPDYE1, LOC113664107, TRBV5-4, DGKI, SPDYE9, CYP3A7, LOC106799841, PKD1L1, RELN, VWDE, RUNDC3B, TES, STEAP4, CCZ1B, LOC113687204, LOC110120589, LOC113219439, LOC116183091, PDGFA, LOC121175370, LOC113748383, TBXAS1, CALCR, GRIFIN, LINC02476, LOC121740675, LOC107126288, AHCYL2, FRA7A, TRBJ2-3, LOC121740683, EPO, ZNF394, FBXL18, MIR4284, MIR5692A1, HILPDA, LOC111674464, LMOD2, LOC113633876, AMPH, C7orf77, LOC113748392, HOTAIRM1, GIGYF1, NUP205, UPK3BL1, LOC121740697, CREB3L2-AS1, MIR591, LOC113748397, C7orf76, TAS2R4, MIR129-1, CADPS2, LOC102724187, DLX6, MIR653, LOC105375504, TRRAP, EN2, LOC110121166, LOC100996365, TRGJP1, TRBV12-5, TRBV5-6, TRC-GCA15-1, CDK5, LOC121740682, TRGJ2, FOXL3, TRIM24, LOC121144497, PTPRN2, MIR550B1, LOC111674472, ELN-AS1, POLR2J, LOC116183096, LOC106049962, PRRT4, SRI, MNX1, CTAGE6, ZNF316, LOC100653233, TSPAN12, LOC105375423, OR2A1, CPA2, PRKAR2B, PDAP1, TRBJ2-4, TRBV30, GIMAP2, ZNF679, SEM1, ATP6V1FNB, PAPOLB, WDR86-AS1, LINC01447, DPY19L1, FOXP2, DDC-AS1, MIR671, LOC113219447, LOC110121279, FMC1-LUC7L2, VGF, LOC114004406, TRBV12-4, LOC108254673, HTR5A, LOC116183094, LOC113225349, PEG10, LOC114827813, MIR1200, STAG3, DLD, LINC00689, LOC100506136, TNS3, SPDYE2B, SNORA25B, LOC113748389, MIR5090, ICA1, LOC121740679, LOC108491823, DDX56, SRRM3, DBF4, LOC112267991, TRBV6-3, LOC113687185, LOC100129148, LOC113748415, NPC1L1, PDIA4, LRRD1, HSPB1, LOC121740696, FAM3C, EVX1, LOC113687186, LOC121175361, PLXNA4, TMEM140, MRM2, IFT22, LOC110121277, TPK1, DGKB, MIR593, CYREN, LINC01393, ZKSCAN1, CNTNAP2-AS1, LOC116186910, LOC441204, LOC110121164, LOC121740700, MIR6133, NPTX2, CTAGE15, SPAM1, CYP3A43, LOC111365160, LOC110121255, CYP51A1, VOPP1-DT, LOC113687207, LOC113219445, LOC110121298, NT5C3A, SCARNA28, FKBP14-AS1, LINC01004, STRIP2, ELN, TMEM139, LOC113219441, FLNC-AS1, CPA4, TCAF2, CD36, MEST, TRGV9, MAGI2, LOC121201619, ZP3, LOC113748417, LOC389602, BPGM, RFC2, PKD1L1-AS1, SNORA22, ZMIZ2, GSAP, GTF2IRD2B, MIR4285, ACTR3B, AOC1, TRBV18, FOXK1, DMTF1, PCOLCE, ZNF786, SNORA14A, ANKMY2, OR9A4, VSTM2A, LINC00996, KEL, LOC114827812, RNY4, ZYX, RHBDD2, COL1A2, LOC105375131, LOC110121290, COPG2, STMP1, NUPR2, LOC110121254, STYXL1, TAX1BP1, LOC121175363, LOC121175354, EIF2AK1, LOC121175340, TRAPPC14, LOC110120775, SEPTIN14, LOC730234, LOC113687198, LOC113219442, MGC16142, MIR6892, LOC100996437, LOC113687202, ANLN, LOC110120685, ARMC10, TRBV6-8, TRBV7-9, CLDN15, C7orf33, HOXA5, SPDYE3, LOC121740693, PPP1R9A, LSMEM1, CFTR, LOC106707174, OR2F2, ZNF777, MYL10, UPP1, LINC01162, TAX1BP1-AS1, OSBPL3, TRBJ1-6, DNAJC30, SGCE, HECW1, LOC114827811, ST7-AS2, LOC113219434, INSIG1-DT, CAMK2B, PAXIP1, URGCP, LOC110120700, MIR5707, RBAK-RBAKDN, LOC113687203, ARHGEF35-AS1, THAP5, GNAI1, TAS2R41, LOC221946, TAS2R38, LOC110120822, POLR2J3, SSC4D, LOC101927769, LOC114004408, TRBV25-1, LOC121144498, LINC02830, NCAPG2, MINDY4, POR, HDAC9-AS1, BLVRA, SPDYE15, GUSB, SPATA48, LOC110121293, GTPBP10, HTR5A-AS1, TRC-GCA10-1, INHBA-AS1, TRP-AGG2-3, NDUFA4, TMEM106B, MIR548N, LOC121740677, IL6-AS1, OR6V1, LOC121740698, LOC646588, LOC101928211, LOC116183084, LOC101927243, SNHG26, CDK14, LOC113687197, LOC106029313, PMS2, LOC101928618, ASNS, LOC111089942, RASA4B, DKFZp434L192, LOC110121165, C7orf26, KDELR2, UBE2D4, LOC101927269, ZCWPW1, CCM2, LOC116186904, GPR146, LOC100129484, SUN1, LOC113219431, MIR4650-1, FBXO24, ETV1, CACNA2D1-AS1, LOC114255744, PRSS1, LOC121175344, CLIP2, CAPZA2, CACNA2D1, OR2F1, NDUFA5, SHH, LOC114841038, TRBV20-1, ORAI2, SLC25A40, TMEM178B, LOC110366355, LINC-PINT, IQUB, PTPN12, LOC114004405, SNORD165, LOC100630923, GRB10, ASL, LOC121740702, TMEM196, MEPCE, ZNF716, LRRN3, LOC108192210, PUS7, BLACE, LINC02860, LOC113748405, C7orf61, GARS1, ZNF713, GTF2I, TMEM213, POLD2, LINC01392, UBE3C, STEAP1, ASB4, CDHR3, TRBV2, IGF2BP3, SUN3, TRIM4, ZNF92, NDUFB2, VOPP1, ABCB1, OGDH, EGFR, SEMA3E, LOC113748403, GRM8, TRBV7-7, SND1, PDGFA-DT, MIR3907, PRKAR1B, FAM20C, RABGEF1, CBLL1-AS1, LOC121740678, UNCX, LANCL2, LOC110120772, LOC100128364, LOC110120983, LINC01003, HOXA9, TRBJ2-1, DPP6, PRKAR1B-AS2, AP4M1, SNORA5C, PHKG1, LOC100128885, AKR1D1, SMARCD3, WNT2, GRID2IP, MIR153-2, LOC112268002, LOC110120686, OCM2, SNORA80D, HOXA-AS2, MIR5692C2, VKORC1L1, ATP5MF, ZNF775-AS1, GBX1, LOC110121181, TMEM139-AS1, SLC4A2, TRBD2, FAM133B, TBL2, HOXA-AS3, CNTNAP2, ACTR3C, LOC100128325, GHET1, LOC110121299, LOC111674474, PSMA2, BHLHA15, LOC121175358, TOMM7, LOC107980434, SNX10-AS1, LOC105375297, DNAJC2, LOC106029312, ASB10, LOC111413014, MIR4468, H2BK1, LOC110121210, LOC116186909, LOC121740689, HEPACAM2, SEMA3C, AGR3, OR2A12, GALNTL5, LOC100129603, KCP, AGBL3, ITGB8, AEBP1, ACHE, LOC105375512, ADAP1, TBX20, REPIN1-AS1, LOC121175337, PLOD3, LAMB1, PTPRZ1, TRGV4, LOC113748410, PTCD1, CDK6, LOC101927181, LOC111591502, TRPV6, CCDC146, GNB2, TRBV11-3, ZNF862, RNY1, RBAKDN, GIMAP8, BZW2, LOC110121099, ZNF804B, LOC113687173, MIR4655, SNORD65C, PRKAR1B-AS1, KDM7A-DT, SRI-AS1, MUC12-AS1, LOC110121180, ABCB8, EPHB4, WDR86, LOC121175366, LOC111674467, ADAM22, LOC114827829, CHST12, LOC113748409, LOC111365168, TRBV15, LOC111674468, DENND11, ACTL6B, SAMD9, LOC105375303, MKLN1, NACAD, CBX3, LOC110120804, TAS2R16, KIAA1549, TRC-GCA9-3, CCDC136, SDHAF3, MIR548O, DNAH11, HOXA10-HOXA9, TRC-GCA1-1, LOC116186908, LOC108254689, ATXN7L1, GATAD1, SAP25, LOC116183095, LOC110121296, AASS, LOC110599591, MDFIC, KMT2E, MUC12, CASD1, TFR2, TAS2R3, LINC00972, TAS2R39, LOC108004521, DYNC2I1, MIR6838, TRIM56, NSUN5, LOC121740691, LOC114827815, MUC17, CHRM2, SNORD151, SLC25A13, MAFK, LOC111413046, LINC01000, LOC121144503, MTRNR2L6, LOC121740684, LOC121175357, ZNF479, ATG9B, LOC107983953, LOC113687181, LOC109623491, SPDYE16, SEC61G-DT, NAPEPLD, LOC121175353, DDC, LOC113219475, LOC113748406, XRCC2, CCZ1, TRGV2, LOC646762, TRR-CCT4-1, LOC644090, MIR11400, TMED4, LOC107986752, GNG11, CARD11, LOC113219474, NIPSNAP2, KIAA0087, LOC121201618, HOXA4, NCF1, CASP2, ELFN1-AS1, LOC101928012, SEMA3A, LOC110121276, TRBC2, CPVL, MIR3914-1, SPDYE6, LOC121175341, DDX3ILA1, LOC401312, LOC121175342, MIR29A, TRBV7-6, MBLAC1, TRBD1, LOC110121022, MIR148A, ZNF117, HOXA7, TRBV10-2, FSCN1, EPHB6, LOC113219437, LNCRI, LOC113219440, POLM, RNF216, TWIST1, LOC121740686, MACC1, ST7, LOC121740694, SNORA20B, SLC26A5, LOC113687200, MRPL32, MIR6840, MTPN, CLCN1, TRPV5, ST7-OT4, MIR25, BRAT1, MIR1183, TYW1, PON3, RADIL, BCAP29, LOC121740680, PRKAG2-AS1, CICP24, TRBJ2-7, OR2A2, MIR550A3, EIF3B, FGL2, LOC113225348, MGAM, LOC111365184, CHPF2, LHFPL3-AS1, TSPAN33, HERV.E-PTN, TRBV17, LOC110121152, TRGJ1, TMEM209, C7orf57, DMTF1-AS1, LOC116186915, GSTK1, AKR1B1, NPSR1, SKAP2, TRA2A, SLC26A3, CCL26, LOC401357, PILRB, CTTNBP2, LOC116186913, TNRC18, ZFAND2A-DT, VSTM2A-OT1, LOC121175371, ACTB, FAM220A, ABHD11, CDK13, MKRN1, RNF133, GIMAP5, SLC35B4, MIR489, LOC111591501, LOC100996249, HIBADH, LOC111465017, GARS1-DT, BMT2, LOC121740676, UFSP1, MIR550A2, LOC110121310, PRSS2, MGC4859, LOC114827816, LOC110121034, STK31, ANKIB1, MIR3914-2, WEE2, BAIAP2L1, CYP2W1, LOC116183088, LOC110121094, LOC121201615, CUL1, ARPC1A, LMTK2, VPS41, LOC108004522, ZKSCAN5, SNORA22B, HNRNPA2B1, LOC113687176, ZNF775, MIR550A1, TRBV29-1, MIR4467, TRBV6-1, LOC101928782, CREB5, PAXIP1-DT, TRBV6-4, MYL7, LOC113225352, ARL4A, LOC441242, AQP1, MAD1L1, MIR6837, TRBV6-5, PHF14, LOC113748398, LOC105375556, SND1-IT1, INSIG1, RNF148, SPDYE12, MIR4283-2, KLHL7, ASZ1, LOC108281173, SPDYE10, LRRC4, ZNF3, LOC113219432, LOC110120735, DNAAF5, FKBP14, FASTK, KLF14, SYPL1, LOC110366354, LOC116435278, EFCAB10, MOGAT3, CASTOR2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058493
2.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
SLC12A9-AS1, SLC13A1, SLC13A4, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMIM30, SMKR1, SMO, SMURF1, SND1, SND1-IT1, SNHG15, SNHG26, SNORA114, SNORA14A, SNORA15, SNORA15B-1, SNORA15B-2, SNORA20B, SNORA22, SNORA22B, SNORA22C, SNORA25B, SNORA5A, SNORA5B, SNORA5C, SNORA80D, SNORA9, SNORD151, SNORD165, SNORD65C, SNORD93, SNX10, SNX10-AS1, SNX13, SNX8, SOSTDC1, SP4, SP8, SPAM1, SPATA48, SPDYE1, SPDYE10, SPDYE11, SPDYE12, SPDYE13, SPDYE14, SPDYE15, SPDYE16, SPDYE17, SPDYE18, SPDYE2, SPDYE21, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SPDYE7P, SPDYE8, SPDYE9, SRI, SRI-AS1, SRPK2, SRRM3, SRRT, SSBP1, SSC4D, SSMEM1, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L5P-PVRIG2P-PILRB, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP2-AS1, STEAP4, STK17A, STK31, STMP1, STRA8, STRIP2, STX1A, STYXL1, SUGCT, SUGCT-AS1, SUMF2, SUN1, SUN3, SVOPL, SYPL1, TAC1, TAF6, TARP, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TAX1BP1, TAX1BP1-AS1, TBL2, TBRG4, TBX20, TBXAS1, TCAF1, TCAF2, TECPR1, TES, TEX47, TFEC, TFPI2, TFPI2-DT, TFR2, THAP5, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM139, TMEM139-AS1, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM196, TMEM209, TMEM213, TMEM225B, TMEM229A, TMEM243, TMEM248, TMEM270, TMEM60, TMUB1, TNPO3, TNRC18, TNS3, TOMM7, TP53TG1, TPK1, TPST1, TRA2A, TRAPPC14, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRG, TRG-AS1, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, TSC22D4-C7ORF61, TSGA13, TSL, TSPAN12, TSPAN13, TSPAN33, TTC26, TTYH3, TWIST1, TYW1, TYW1B, UBE2D4, UBE2H, UBE3C, UBN2, UFSP1, UMAD1, UNCX, UPK3B, UPK3BL1, UPK3BL2, UPP1, URGCP, URGCP-MRPS24, USP42, VGF, VIPR2, VKORC1L1, VOPP1, VOPP1-DT, VPS37D, VPS41, VPS50, VSTM2A, VSTM2A-OT1, VWC2, VWDE, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WIPF3, WIPI2, WNT16, WNT2, XRCC2, YAE1, YAE1-DT, YKT6, YWHAG, ZAN, ZASP, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZDHHC4, ZFAND2A, ZFAND2A-DT, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF277, ZNF282, ZNF3, ZNF316, ZNF394, ZNF398, ZNF425, ZNF467, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF722, ZNF727, ZNF735, ZNF736, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZRS, ZSCAN21, ZSCAN25, ZYX, ESYT2, ETV1, EVX1, EVX1-AS, EXOC4, EZH2, FAM126A, FAM131B, FAM131B-AS1, FAM133B, FAM180A, FAM185A, FAM200A, FAM20C, FAM220A, FAM221A, FAM237B, FAM3C, FASTK, FBXL13, FBXL18, FBXO24, FERD3L, FEZF1, FEZF1-AS1, FGL2, FIGNL1, FIS1, FKBP14, FKBP14-AS1, FKBP6, FKBP9, FLJ20712, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FOXK1, FOXL3, FOXL3-OT1, FOXP2, FRA7A, FSCN1, FSCN3, FZD1, FZD9, GAL3ST4, GALNT11, GALNT17, GALNTL5, GARIN1A, GARIN1B, GARS1, GARS1-DT, GATAD1, GBX1, GCC1, GCK, GET4, GGCT, GHET1, GHRHR, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GJC3, GLCCI1, GLCCI1-DT, GLI3, GNA12, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPER1, GPNMB, GPR141, GPR146, GPR22, GPR37, GPR85, GRB10, GRID2IP, GRIFIN, GRM3, GRM8, GRM8-AS1, GS1-124K5.4, GSAP, GSDME, GSTK1, GTF2I, GTF2I-AS1, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, H2AZ2-DT, H2BK1, HBP1, HDAC9, HDAC9-AS1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HERPUD2-AS1, HERV.E-PTN, HGF, HIBADH, HILPDA, HIP1, HIPK2, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA-AS2, HOXA-AS3, HOXA1, HOXA10, HOXA10-AS, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HPVC1, HRAT17, HSPB1, HTR5A, HTR5A-AS1, HUS1, HYAL4, ICA1, ICA1-AS1, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IL6-AS1, IMMP2L, IMPDH1, ING3, INHBA, INHBA-AS1, INMT, INMT-MINDY4, INSIG1, INSIG1-DT, INTS1, IQCA1L, IQCE, IQUB, IRF5, ITGB8, ITGB8-AS1, ITPRID1, JAZF1, JAZF1-AS1, KBTBD2, KCND2, KCNH2, KCP, KCTD7, KDELR2, KDM7A, KDM7A-DT, KEL, KIAA0087, KIAA0895, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-DT, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LFNG, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LIMK1, LINC-PINT, LINC00174, LINC00244, LINC00265, LINC00513, LINC00525, LINC00689, LINC00957, LINC00972, LINC00996, LINC00997, LINC01000, LINC01003, LINC01004, LINC01005, LINC01007, LINC01022, LINC01162, LINC01176, LINC01287, LINC01372, LINC01392, LINC01393, LINC01445, LINC01446, LINC01447, LINC01448, LINC01449, LINC01450, LINC02476, LINC02577, LINC02587, LINC02604, LINC02830, LINC02838, LINC02860, LINC02888, LINC02889, LINC02902, LINC02903, LINC02932, LLCFC1, LMBR1, LMOD2, LMTK2, LNCPRESS1, LNCRI, LOC100128317, LOC100128325, LOC100128364, LOC100128653, LOC100128885, LOC100129148, LOC100129484, LOC100129603, LOC100131472, LOC100133091, LOC100134040, LOC100240728, LOC100286906, LOC100287704, LOC100287834, LOC100506136, LOC100506178, LOC100506302, LOC100506497, LOC100506682, LOC100506725, LOC100506937, LOC100507507, LOC100507642, LOC100630923, LOC100653233, LOC100996249, LOC100996365, LOC100996437, LOC101927181, LOC101927243, LOC101927269, LOC101927354, LOC101927378, LOC101927446, LOC101927550, LOC101927668, LOC101927769, LOC101927914, LOC101928012, LOC101928168, LOC101928211, LOC101928254, LOC101928283, LOC101928401, LOC101928618, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102723427, LOC102723672, LOC102724187, LOC102724434, LOC102725191, LOC105369146, LOC105375115, LOC105375131, LOC105375166, LOC105375218, LOC105375297, LOC105375303, LOC105375423, LOC105375429, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106029311, LOC106029312, LOC106029313, LOC106049962, LOC106707174, LOC106728418, LOC106783492, LOC106783574, LOC106799841, LOC106799845, LOC107057645, LOC107126281, LOC107126288, LOC107197952, LOC107980434, LOC107983953, LOC107986752, LOC107986794, LOC107986845, LOC108004521, LOC108004522, LOC108192210, LOC108228208, LOC108228209, LOC108251801, LOC108254663, LOC108254673, LOC108254689, LOC108281146, LOC108281155, LOC108281173, LOC108491823, LOC109623491, LOC110120589, LOC110120590, LOC110120618, LOC110120619, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120653, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120735, LOC110120749, LOC110120753, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120804, LOC110120810, LOC110120813, LOC110120822, LOC110120961, LOC110120964, LOC110120983, LOC110121006, LOC110121022, LOC110121030, LOC110121034, LOC110121044, LOC110121049, LOC110121058, LOC110121066, LOC110121094, LOC110121097, LOC110121099, LOC110121115, LOC110121152, LOC110121156, LOC110121158, LOC110121162, LOC110121164, LOC110121165, LOC110121166, LOC110121167, LOC110121168, LOC110121172, LOC110121180, LOC110121181, LOC110121185, LOC110121203, LOC110121207, LOC110121210, LOC110121212, LOC110121245, LOC110121252, LOC110121253, LOC110121254, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110121290, LOC110121291, LOC110121292, LOC110121293, LOC110121294, LOC110121295, LOC110121296, LOC110121297, LOC110121298, LOC110121299, LOC110121300, LOC110121304, LOC110121310, LOC110366354, LOC110366355, LOC110599567, LOC110599591, LOC110599592, LOC110973015, LOC111089942, LOC111365160, LOC111365161, LOC111365168, LOC111365177, LOC111365184, LOC111365192, LOC111413014, LOC111413044, LOC111413046, LOC111465017, LOC111591501, LOC111591502, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC111776221, LOC112267991, LOC112268002, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687173, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687186, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687202, LOC113687203, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748390, LOC113748391, LOC113748392, LOC113748393, LOC113748394, LOC113748395, LOC113748396, LOC113748397, LOC113748398, LOC113748399, LOC113748400, LOC113748401, LOC113748402, LOC113748403, LOC113748404, LOC113748405, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC113748415, LOC113748416, LOC113748417, LOC113748418, LOC113748419, LOC113748420, LOC114004405, LOC114004406, LOC114004407, LOC114004408, LOC114255744, LOC114827811, LOC114827812, LOC114827813, LOC114827814, LOC114827815, LOC114827816, LOC114827829, LOC114827835, LOC114841038, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116183089, LOC116183090, LOC116183091, LOC116183092, LOC116183093, LOC116183094, LOC116183095, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC116435278, LOC120766156, LOC120807605, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, LOC121175340, LOC121175341, LOC121175342, LOC121175343, LOC121175344, LOC121175345, LOC121175346, LOC121175347, LOC121175348, LOC121175349, LOC121175350, LOC121175351, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740675, LOC121740676, LOC121740677, LOC121740678, LOC121740679, LOC121740680, LOC121740681, LOC121740682, LOC121740683, LOC121740684, LOC121740685, LOC121740686, LOC121740687, LOC121740688, LOC121740689, LOC121740690, LOC121740691, LOC121740692, LOC121740693, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC221946, LOC285889, LOC349160, LOC389602, LOC401312, LOC401324, LOC401357, LOC441204, LOC441242, LOC442497, LOC644090, LOC646588, LOC646762, LOC728743, LOC730234, LOC730338, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSM8, LSMEM1, LUARIS, LUC7L2, LUZP6, MACC1, MACC1-AS1, MACC1-DT, MAD1L1, MAFK, MAGI2, MAGI2-AS2, MAGI2-AS3, MALSU1, MBLAC1, MCM7, MDFIC, MDH2, MEOX2, MEPCE, MEST, MESTIT1, MET, METTL27, METTL2B, MGAM, MGAM2, MGC16142, MGC27345, MGC4859, MICALL2, MINDY4, MIOS, MIOS-DT, MIR10399, MIR10525, MIR106B, MIR11400, MIR1183, MIR1200, MIR12119, MIR1285-1, MIR129-1, MIR1302-6, MIR148A, MIR153-2, MIR182, MIR183, MIR196B, MIR25, MIR29A, MIR29B1, MIR3146, MIR3147, MIR335, MIR339, MIR3609, MIR3654, MIR3666, MIR3683, MIR3907, MIR3914-1, MIR3914-2, MIR3943, MIR4283-1, MIR4283-2, MIR4284, MIR4285, MIR4467, MIR4468, MIR4648, MIR4649, MIR4650-1, MIR4650-2, MIR4651, MIR4652, MIR4653, MIR4655, MIR4656, MIR4657, MIR4658, MIR489, MIR490, MIR5090, MIR548F4, MIR548N, MIR548O, MIR550A1, MIR550A2, MIR550A3, MIR550B1, MIR550B2, MIR5692A1, MIR5692C2, MIR5707, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR653, MIR671, MIR6836, MIR6837, MIR6838, MIR6839, MIR6840, MIR6874, MIR6875, MIR6892, MIR93, MIR96, MKLN1, MKLN1-AS, MKRN1, MLXIPL, MMD2, MNX1, MNX1-AS1, MNX1-AS2, MOGAT3, MOSPD3, MPLKIP, MRM2, MRPL32, MRPS17, MRPS24, MRPS33, MTERF1, MTPN, MTRNR2L6, MTURN, MUC12, MUC12-AS1, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCAPG2, NCF1, NDUFA4, NDUFA5, NDUFB2, NDUFB2-AS1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPSR1-AS1, NPTX2, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUB1, NUDCD3, NUDT1, NUP205, NUP42, NUPR2, NXPH1, NYAP1, OCM, OCM2, OGDH, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, ORAI2, ORC5, ORS8, OSBPL3, PALS2, PAPOLB, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PCLO, PCOLCE, PCOLCE-AS1, PDAP1, PDE1C, PDGFA, PDGFA-DT, PDIA4, PDK4, PEG10, PEX1, PGAM2, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PILRB, PIP, PKD1L1, PKD1L1-AS1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PMS2, PNPLA8, PODXL, POLD2, POLM, POLR1F, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POT1, POT1-AS1, POU6F2, POU6F2-AS1, POU6F2-AS2, PPIA, PPP1R17, PPP1R35, PPP1R35-AS1, PPP1R3A, PPP1R9A, PPP1R9A-AS1, PRKAG2, PRKAG2-AS1, PRKAR1B, PRKAR1B-AS1, PRKAR1B-AS2, PRKAR2B, PRKAR2B-AS1, PRKRIP1, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PSMA2, PSMC2, PSMG3, PSMG3-AS1, PSPH, PTCD1, PTN, PTPN12, PTPRN2, PTPRN2-AS1, PTPRZ1, PTTG1IP2, PURB, PUS7, PVRIG, RAB19, RABGEF1, RAC1, RADIL, RALA, RAMP3, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBAKDN, RBM28, RBM33, RBM48, RCC1L, RELN, REPIN1, REPIN1-AS1, RFC2, RHBDD2, RHEB, RINT1, RNF133, RNF148, RNF216, RNF216-IT1, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, RSBN1L, RSPH10B, RSPH10B2, RUNDC3B, SAGSIN1, SAMD9, SAMD9L, SAP25, SBDS, SBE2, SCARNA28, SCIN, SCRN1, SDHAF3, SDK1, SDK1-AS1, SEC61G, SEC61G-DT, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SEPTIN7-DT, SERPINE1, SFRP4, SGCE, SH2B2, SHH, SKAP2, SLC12A9, AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABCF2-H2BK1, ABHD11, ABHD11-AS1, ACHE, ACTB, ACTL6B, ACTR3B, ACTR3C, ADAM22, ADAP1, ADCK2, ADCY1, ADCYAP1R1, AEBP1, AGAP3, AGBL3, AGFG2, AGK, AGK-DT, AGMO, AGR2, AGR3, AHCYL2, AHR, AIMP2, AKAP9, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANKRD7, ANLN, AOAH, AOAH-IT1, AOC1, AP1S1, AP4M1, AP5Z1, APTR, AQP1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ARL4A, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB15-AS1, ASB4, ASIC3, ASL, ASNS, ASZ1, ATG9B, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BET1-AS1, BHLHA15, BLACE, BLVRA, BMPER, BMT2, BPGM, BRAF, BRAT1, BRI3, BUD23, BUD31, BZW2, C1GALT1, C7orf25, C7orf26, C7orf31, C7orf33, C7orf50, C7orf57, C7orf61, C7orf76, C7orf77, CACNA2D1, CACNA2D1-AS1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CARD11, CARD11-AS1, CASD1, CASP2, CASTOR2, CAV1, CAV2, CBLL1, CBLL1-AS1, CBX3, CCDC126, CCDC136, CCDC146, CCDC201, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CCZ1, CCZ1B, CD36, CDC14C, CDCA7L, CDHR3, CDK13, CDK13-DT, CDK14, CDK5, CDK6, CDK6-AS1, CEP41, CFAP69, CFTR, CFTR-AS1, CHCHD2, CHCHD3, CHN2, CHN2-AS1, CHPF2, CHRM2, CHST12, CICP24, CLCN1, CLDN12, CLDN15, CLDN3, CLDN4, CLEC2L, CLEC5A, CLIP2, CNOT4, CNPY1, CNPY4, CNTNAP2, CNTNAP2-AS1, COA1, COBL, COG5, COL1A2, COL1A2-AS1, COL26A1, COL28A1, COMETT, COPG2, COPG2IT1, COPS6, COX19, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CRCP, CREB3L2, CREB3L2-AS1, CREB5, CRHR2, CROT, CRPPA, CRPPA-AS1, CRYGN, CT66, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CUX1, CYCS, CYP2W1, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYP51A1, CYP51A1-AS1, CYREN, CYTH3, CZ1P-ASNS, DAGLB, DBF4, DBNL, DDC, DDC-AS1, DDX3ILA1, DDX56, DENND11, DENND2A, DGKB, DGKI, DKFZp434L192, DLD, DLX5, DLX6, DLX6-AS1, DMTF1, DMTF1-AS1, DNAAF5, DNAH11, DNAJB6, DNAJB9, DNAJC2, DNAJC30, DOCK4, DOCK4-AS1, DPP6, DPY19L1, DTX2, DUS4L, DUS4L-BCAP29, DYNC1I1, DYNC2I1, EEPD1, EFCAB10, EGFR, EGFR-AS1, EIF2AK1, EIF3B, EIF4H, ELAPOR2, ELDR, ELFN1, ELFN1-AS1, ELMO1, ELMO1-AS1, ELN, ELN-AS1, EMSLR, EN2, EPDR1, EPHA1, EPHA1-AS1, EPHB4, EPHB6, EPO, ERV3-1, ERV3-1-ZNF117, ERVW-1
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146075
3.
GRCh37:
Chr7:97049164-158716453
GRCh38:
Chr7:97419852-158923762
AASS, ABCB8, ABCF2, ABCF2-H2BK1, ACHE, ACTL6B, ACTR3B, ACTR3C, ADCK2, AGAP3, AGBL3, AGFG2, AGK, AGK-DT, AHCYL2, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, ANKRD7, AOC1, AP1S1, AP4M1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB15-AS1, ASIC3, ASNS, ASZ1, ATG9B, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, ATXN7L1, AZGP1, BAIAP2L1, BCAP29, BHLHA15, BLACE, BMT2, BPGM, BRAF, BRI3, BUD31, C7orf33, C7orf61, C7orf77, CADPS2, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CBLL1, CBLL1-AS1, CCDC136, CCDC71L, CDHR3, CDK5, CEP41, CFTR, CFTR-AS1, CHCHD3, CHPF2, CHRM2, CLCN1, CLDN15, CLEC2L, CLEC5A, CNOT4, CNPY1, CNPY4, CNTNAP2, CNTNAP2-AS1, COG5, COL26A1, COMETT, COPG2, COPG2IT1, COPS6, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CREB3L2, CREB3L2-AS1, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CUX1, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYREN, CZ1P-ASNS, DENND11, DENND2A, DGKI, DLD, DNAJB6, DNAJB9, DNAJC2, DOCK4, DOCK4-AS1, ESYT2, DPP6, DUS4L, DUS4L-BCAP29, DYNC2I1, EFCAB10, EMSLR, EN2, EPHA1, EPHA1-AS1, EPHB4, EPHB6, EPO, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM180A, FAM185A, FAM200A, FAM3C, FASTK, FBXL13, FBXO24, FEZF1, FEZF1-AS1, FIS1, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FOXP2, FSCN3, GAL3ST4, GALNT11, GALNTL5, GARIN1A, GARIN1B, GBX1, GCC1, GHET1, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GJC3, GNB2, GPC2, GPR22, GPR37, GPR85, GRM8, GRM8-AS1, GSTK1, H2BK1, HBP1, HERV.E-PTN, HILPDA, HIPK2, HRAT17, HTR5A, HTR5A-AS1, HYAL4, IFRD1, IFT22, IMMP2L, IMPDH1, ING3, INSIG1, INSIG1-DT, IQCA1L, IQUB, IRF5, KCND2, KCNH2, KCP, KDM7A, KDM7A-DT, KEL, KIAA1549, KLF14, KLHDC10, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, LAMB1, LAMB4, LAMTOR4, LEP, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LINC-PINT, LINC00244, LINC00513, LINC00996, LINC01000, LINC01003, LINC01004, LINC01007, LINC01022, LINC01287, LINC01392, LINC01393, LINC02476, LINC02577, LINC02830, LINC02903, LLCFC1, LMBR1, LMOD2, LMTK2, LNCPRESS1, LOC100128325, LOC100129148, LOC100134040, LOC100286906, LOC100506302, LOC100506682, LOC100506937, LOC100507507, LOC100630923, LOC100996249, LOC101927550, LOC101927914, LOC101928012, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102724187, LOC102724434, LOC105375423, LOC105375429, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106049962, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108281155, LOC108491823, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121044, LOC110121049, LOC110121094, LOC110121207, LOC110121210, LOC110121252, LOC110121253, LOC110121254, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110366354, LOC110366355, LOC110599567, LOC110599591, LOC110599592, LOC110973015, LOC111089942, LOC111365160, LOC111365177, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC111776221, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113748420, LOC114004406, LOC114004407, LOC114255744, LOC116183093, LOC116183094, LOC116183095, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC120807605, LOC121175351, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740692, LOC121740693, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC285889, LOC349160, LOC389602, LOC644090, LOC728743, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRN3, LRWD1, LSM8, LSMEM1, LUC7L2, LUZP6, MBLAC1, MCM7, MDFIC, MEPCE, MEST, MESTIT1, MET, METTL2B, MGAM, MGAM2, MGC27345, MIR10399, MIR106B, MIR11400, MIR12119, MIR129-1, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR335, MIR3609, MIR3654, MIR3666, MIR3907, MIR4285, MIR4467, MIR4468, MIR4653, MIR4658, MIR490, MIR5090, MIR548F4, MIR548O, MIR5692A1, MIR5692C2, MIR5707, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR671, MIR6840, MIR6875, MIR6892, MIR93, MIR96, MKLN1, MKLN1-AS, MKRN1, MNX1, MNX1-AS1, MNX1-AS2, MOGAT3, MOSPD3, MRPS33, MTPN, MTRNR2L6, MUC12, MUC12-AS1, MUC17, MUC3A, MYL10, NAMPT, NAPEPLD, NAT16, NCAPG2, NDUFA5, NDUFB2, NDUFB2-AS1, NFE4, NOBOX, NOM1, NOS3, NPTX2, NRCAM, NRF1, NUB1, NUP205, NYAP1, OCM2, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, ORAI2, ORC5, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PCOLCE, PCOLCE-AS1, PDAP1, PDIA4, PIK3CG, PILRA, PILRB, PIP, PLOD3, PLXNA4, PMPCB, PNPLA8, PODXL, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, POP7, POT1, POT1-AS1, PPP1R35, PPP1R35-AS1, PPP1R3A, PRKAG2, PRKAG2-AS1, PRKAR2B, PRKAR2B-AS1, PRKRIP1, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PSMC2, PTCD1, PTN, PTPRN2, PTPRN2-AS1, PTPRZ1, PUS7, PVRIG, RAB19, RARRES2, RASA4, RASA4B, RBM28, RBM33, RELN, REPIN1, REPIN1-AS1, RHEB, RINT1, RNF133, RNF148, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, SAP25, SBE2, SCARNA28, SERPINE1, SH2B2, SHH, SLC12A9, SLC12A9-AS1, SLC13A1, SLC13A4, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMIM30, SMKR1, SMO, SMURF1, SND1, SND1-IT1, SNORA25B, SPAM1, SPDYE2, SPDYE2B, SPDYE3, SPDYE6, SRPK2, SRRT, SSBP1, SSMEM1, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L5P-PVRIG2P-PILRB, STMP1, STRA8, STRIP2, SVOPL, SYPL1, TAC1, TAF6, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TECPR1, TES, TFEC, TFR2, THAP5, TMEM130, TMEM139, TMEM139-AS1, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM209, TMEM213, TMEM225B, TMEM229A, TMUB1, TNPO3, TPK1, TRAPPC14, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRIM24, TRIM4, TRIM56, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, TSC22D4-C7ORF61, TSGA13, TSPAN12, TSPAN33, TTC26, UBE2H, UBE3C, UBN2, UFSP1, UPK3BL1, UPK3BL2, VGF, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WNT16, WNT2, XRCC2, ZAN, ZASP, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZKSCAN1, ZKSCAN5, ZNF212, ZNF277, ZNF282, ZNF3, ZNF394, ZNF398, ZNF425, ZNF467, ZNF655, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF862, ZNHIT1, ZRS, ZSCAN21, ZSCAN25, ZYX
See casesPathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000147547
4.
GRCh37:
Chr7:115099069-159118507
GRCh38:
Chr7:115459015-159325817
AASS, ABCB8, ABCF2, ABCF2-H2BK1, ACTR3B, ACTR3C, ADCK2, AGAP3, AGBL3, AGK, AGK-DT, AHCYL2, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ANKRD7, AOC1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ASB10, ASB15, ASB15-AS1, ASIC3, ASZ1, ATG9B, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, BLACE, BPGM, BRAF, C7orf33, C7orf77, CADPS2, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CCDC136, CDK5, CEP41, CFTR, CFTR-AS1, CHCHD3, CHPF2, CHRM2, CLCN1, CLEC2L, CLEC5A, CNOT4, CNPY1, CNTNAP2, CNTNAP2-AS1, COMETT, COPG2, COPG2IT1, CPA1, CPA2, CPA4, CPA5, CPED1, CREB3L2, CREB3L2-AS1, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CYREN, DENND11, DENND2A, DGKI, DNAJB6, DPP6, DYNC2I1, EN2, EPHA1, EPHA1-AS1, EPHB6, ESYT2, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM180A, FAM3C, FASTK, FEZF1, FEZF1-AS1, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FSCN3, GALNT11, GALNTL5, GARIN1A, GARIN1B, GBX1, GCC1, GHET1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GPR37, GRM8, GRM8-AS1, GSTK1, H2BK1, HERV.E-PTN, HILPDA, HIPK2, HTR5A, HTR5A-AS1, HYAL4, IMPDH1, ING3, INSIG1, INSIG1-DT, IQCA1L, IQUB, IRF5, KCND2, KCNH2, KCP, KDM7A, KDM7A-DT, KEL, KIAA1549, KLF14, KLHDC10, KLRG2, KMT2C, KRBA1, LEP, LINC-PINT, LINC00244, LINC00513, LINC00689, LINC00996, LINC01000, LINC01003, LINC01022, LINC01287, LINC02476, LINC02830, LLCFC1, LMBR1, LMOD2, LOC100128325, LOC100129148, LOC100134040, LOC100286906, LOC100506302, LOC100506682, LOC100506937, LOC100507507, LOC101927914, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102724434, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106049962, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108254663, LOC108281155, LOC108491823, LOC110121044, LOC110121049, LOC110121094, LOC110121203, LOC110121207, LOC110121210, LOC110121252, LOC110121253, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110599567, LOC110973015, LOC111089942, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743971, LOC114004407, LOC114255744, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC285889, LOC349160, LOC389602, LOC644090, LOC728743, LRGUK, LRRC4, LRRC61, LSM8, LUC7L2, LUZP6, MEST, MESTIT1, MET, METTL2B, MGAM, MGAM2, MGC27345, MIR10399, MIR11400, MIR129-1, MIR153-2, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR3654, MIR3907, MIR4468, MIR490, MIR548F4, MIR5707, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR671, MIR6892, MIR96, MKLN1, MKLN1-AS, MKRN1, MNX1, MNX1-AS1, MNX1-AS2, MRPS33, MTPN, MTRNR2L6, NCAPG2, NDUFA5, NDUFB2, NDUFB2-AS1, NOBOX, NOM1, NOS3, NRF1, NUB1, NUP205, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PDIA4, PIP, PLXNA4, PODXL, POT1, POT1-AS1, PRKAG2, PRKAG2-AS1, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PTN, PTPRN2, PTPRN2-AS1, PTPRZ1, RAB19, RARRES2, RBM28, RBM33, REPIN1, REPIN1-AS1, RHEB, RNF133, RNF148, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, SBE2, SHH, SLC13A1, SLC13A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMKR1, SMO, SND1, SND1-IT1, SNORA25B, SPAM1, SSBP1, SSMEM1, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STMP1, STRA8, STRIP2, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TES, TFEC, TMEM139, TMEM139-AS1, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM209, TMEM213, TMEM229A, TMUB1, TNPO3, TPK1, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRIM24, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRS-AGA5-1, TSGA13, TSPAN12, TSPAN33, TTC26, UBE2H, UBE3C, UBN2, VIPR2, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WNT16, WNT2, XRCC2, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF800, ZNF862, ZRS, ZYX
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152912
5.
GRCh37:
Chr7:116966859-134475440
GRCh38:
Chr7:117326805-134790689
AASS, AHCYL2, AKR1B1, AKR1B10, AKR1B15, ANKRD7, ARF5, ASB15, ASB15-AS1, ASZ1, ATP6V1F, ATP6V1FNB, BPGM, C7orf77, CADPS2, CALD1, CALU, CCDC136, CEP41, CFTR, CFTR-AS1, CHCHD3, COPG2, COPG2IT1, CPA1, CPA2, CPA4, CPA5, CPED1, CTTNBP2, EXOC4, FAM3C, FEZF1, FEZF1-AS1, FLJ40288, FLNC, FLNC-AS1, FSCN3, GARIN1A, GARIN1B, GCC1, GPR37, GRM8, GRM8-AS1, HILPDA, HYAL4, IMPDH1, ING3, IQUB, IRF5, KCND2, KCP, KLF14, KLHDC10, LEP, LINC-PINT, LINC00513, LINC01000, LINC02476, LINC02830, LMOD2, LOC100128325, LOC100506682, LOC100506937, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC105375483, LOC105375504, LOC105375512, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108281155, LOC108491823, LOC110121049, LOC110121210, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC116186912, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LRGUK, LRRC4, LSM8, MEST, MESTIT1, METTL2B, MGC27345, MIR129-1, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR3654, MIR592, MIR593, MIR6133, MIR96, MKLN1, MKLN1-AS, NDUFA5, NRF1, OPN1SW, PAX4, PLXNA4, PODXL, POT1, POT1-AS1, PRRT4, PTPRZ1, RBM28, RNF133, RNF148, SLC13A1, SLC35B4, SMKR1, SMO, SND1, SND1-IT1, SPAM1, SSMEM1, STRIP2, TAS2R16, TMEM209, TMEM229A, TNPO3, TRP-AGG2-3, TSGA13, TSPAN12, TSPAN33, UBE2H, WASL, WASL-DT, WNT16, ZC3HC1, ZNF800
See casesPathogenic
(Mar 12, 2012)
no assertion criteria providedVCV000149172
6.
GRCh37:
Chr7:121503813-159128555
GRCh38:
Chr7:121863759-159335865
AASS, ABCB8, ABCF2, ABCF2-H2BK1, ACTR3B, ACTR3C, ADCK2, AGAP3, AGBL3, AGK, AGK-DT, AHCYL2, AKR1B1, AKR1B10, AKR1B15, AKR1D1, AOC1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ASB10, ASB15, ASB15-AS1, ASIC3, ATG9B, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, BLACE, BPGM, BRAF, C7orf33, C7orf77, CADPS2, CALD1, CALU, CASP2, CCDC136, CDK5, CEP41, CHCHD3, CHPF2, CHRM2, CLCN1, CLEC2L, CLEC5A, CNOT4, CNPY1, CNTNAP2, CNTNAP2-AS1, COPG2, COPG2IT1, CPA1, CPA2, CPA4, CPA5, CREB3L2, CREB3L2-AS1, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CUL1, CYREN, DENND11, DENND2A, DGKI, DNAJB6, DPP6, DYNC2I1, EN2, EPHA1, EPHA1-AS1, EPHB6, ESYT2, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM180A, FASTK, FEZF1, FEZF1-AS1, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FSCN3, GALNT11, GALNTL5, GARIN1A, GARIN1B, GBX1, GCC1, GHET1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GPR37, GRM8, GRM8-AS1, GSTK1, H2BK1, HERV.E-PTN, HILPDA, HIPK2, HTR5A, HTR5A-AS1, HYAL4, IMPDH1, INSIG1, INSIG1-DT, IQCA1L, IQUB, IRF5, KCNH2, KCP, KDM7A, KDM7A-DT, KEL, KIAA1549, KLF14, KLHDC10, KLRG2, KMT2C, KRBA1, LEP, LINC-PINT, LINC00244, LINC00513, LINC00689, LINC00996, LINC01000, LINC01003, LINC01022, LINC01287, LINC02830, LLCFC1, LMBR1, LMOD2, LOC100128325, LOC100129148, LOC100134040, LOC100286906, LOC100506302, LOC100506682, LOC100506937, LOC100507507, LOC101927914, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106049962, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108254663, LOC108281155, LOC110121044, LOC110121049, LOC110121094, LOC110121203, LOC110121210, LOC110121253, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110599567, LOC110973015, LOC111089942, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743971, LOC114004407, LOC114255744, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC285889, LOC349160, LOC389602, LOC644090, LOC728743, LRGUK, LRRC4, LRRC61, LUC7L2, LUZP6, MEST, MESTIT1, METTL2B, MGAM, MGAM2, MGC27345, MIR10399, MIR11400, MIR129-1, MIR153-2, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR3654, MIR3907, MIR4468, MIR490, MIR548F4, MIR5707, MIR592, MIR593, MIR595, MIR6133, MIR6509, MIR671, MIR6892, MIR96, MKLN1, MKLN1-AS, MKRN1, MNX1, MNX1-AS1, MNX1-AS2, MRPS33, MTPN, MTRNR2L6, NCAPG2, NDUFA5, NDUFB2, NDUFB2-AS1, NOBOX, NOM1, NOS3, NRF1, NUB1, NUP205, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PDIA4, PIP, PLXNA4, PODXL, POT1, POT1-AS1, PRKAG2, PRKAG2-AS1, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PTN, PTPRN2, PTPRN2-AS1, PTPRZ1, RAB19, RARRES2, RBM28, RBM33, REPIN1, REPIN1-AS1, RHEB, RNF133, RNF148, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, SBE2, SHH, SLC13A1, SLC13A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMKR1, SMO, SND1, SND1-IT1, SPAM1, SSBP1, SSMEM1, STMP1, STRA8, STRIP2, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TMEM139, TMEM139-AS1,