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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:53985-159075220
GRCh38:
Chr7:53985-159282531
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, 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, POLR2J3, 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, AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABCF2-H2BE1, 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, 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, ESYT2, ETV1, EVX1, EVX1-AS, EXOC4, EZH2, FAM126A, FAM131B, FAM131B-AS1, FAM133B, FAM180A, FAM185A, FAM200A, FAM20C, FAM220A, FAM221A, FAM237B, FAM3C, FAM71F1, FAM71F2, 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, 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, H2BE1, 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, LINC01006, 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, 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, RBM33, RBM48, RCC1L, RELN, REPIN1, REPIN1-AS1, RFC2, RHBDD2, RHEB, RINT1, RNF133, RNF148, RNF216, RNF216-IT1, RNF32, RNF32-AS1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, RSBN1L, RSPH10B, RSPH10B2, RUNDC3B, 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, 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, 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, ZNF722P, ZNF727, ZNF735, ZNF736, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZRS, ZSCAN21, ZSCAN25, ZYX
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058493
2.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
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, POLR2J3, 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, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, RSBN1L, RSPH10B, RSPH10B2, RUNDC3B, 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, 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, AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABCF2-H2BE1, 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, 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, ESYT2, ETV1, EVX1, EVX1-AS, EXOC4, EZH2, FAM126A, FAM131B, FAM131B-AS1, FAM133B, FAM180A, FAM185A, FAM200A, FAM20C, FAM220A, FAM221A, FAM237B, FAM3C, FAM71F1, FAM71F2, FASTK, FBXL13, FBXL18, FBXO24, FERD3L, FEZF1, FEZF1-AS1, FGL2, FIGNL1, FIS1, FKBP14, FKBP14-AS1, FKBP6, FKBP9, FLJ20712, FLJ40288, FOXL3-OT1, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FOXK1, FOXL3, FOXP2, FRA7A, FSCN1, FSCN3, FZD1, FZD9, GAL3ST4, GALNT11, GALNT17, GALNTL5, 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, H2BE1, 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, LINC01006, 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, 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, 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, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, 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, ZNF722P, ZNF727, ZNF735, ZNF736, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZRS, ZSCAN21, ZSCAN25, ZYX
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146075
3.
GRCh37:
Chr7:54185-37129317
GRCh38:
Chr7:54185-37089712
ANLN, MIOS, RNF216, CPVL, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, FLJ20712, FKBP14, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, TBX20, RBAK, NEUROD6, NPVF, HERPUD2, GGCT, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, EEPD1, USP42, MINDY4, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, PLEKHA8, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, C7orf31, AMZ1, AGR3, BMPER, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, MTURN, PRR15, FERD3L, SLC29A4, RSPH10B, ITPRID1, ZNRF2, TMEM196, STEAP1B, LINC02860, HOXA-AS2, UNCX, COL28A1, ABCB5, FAM221A, MACC1, NPSR1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GARS1-DT, LINC00997, LOC401324, GRIFIN, NPSR1-AS1, MIR148A, LOC441204, HRAT92, LOC442497, MIR339, MIR196B, IL6-AS1, WIPF3, LOC646588, LOC646762, OCM, SNORD93, MIR550A1, MIR550A2, MIR589, RSPH10B2, UMAD1, CRPPA, TSL, JAZF1-AS1, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, FOXL3-OT1, MIR1200, MIR1183, MIR1302-6, MIR548N, ANKRD61, HOTTIP, MIR3146, MIR550B2, MIR550B1, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, HOTAIRM1, LOC100506497, LINC01176, LOC100506725, LOC100507642, INMT-MINDY4, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR550A3, MIR4656, KLHL7-DT, ELMO1-AS1, MACC1-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, EVX1-AS, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, LOC101928168, SEPTIN7-DT, LOC101928618, HERPUD2-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, CHN2-AS1, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, TAX1BP1-AS1, FKBP14-AS1, LOC105375218, LOC105375303, LOC105375304, LOC106783574, LOC106799841, LOC106799845, ORS8, LOC107126281, LOC107126288, LOC107197952, LOC107983953, LOC107986752, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121066, LOC110121099, LOC110121115, LOC110121156, LOC110121158, LOC110121162, LOC110121180, LOC110121185, LOC110121290, LOC110121291, LOC111365168, LOC111365184, LOC111365192, LOC111413014, LOC111465017, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, LOC114827829, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116435278, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, ACTB, ADCYAP1R1, AHR, AOAH, AQP1, SEPTIN7, CHN2, CRHR2, DGKB, GSDME, ETV1, EVX1, GARS1, GHRHR, GNA12, GPER1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDE1C, PDGFA, PMS2, PRKAR1B, RAC1, RP9, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, TAX1BP1, SKAP2, CYTH3, CREB5, NFE2L3, PHF14, HDAC9, RAPGEF5, SCRN1, KIAA0087, ELMO1, TRIL, AP5Z1, ARL4A, NOD1, GPNMB, AGR2, IGF2BP3, PPP1R17, KDELR2, ADAP1, NUP42, HIBADH, INMT, FKBP9, CBX3, AVL9, SNX13, IQCE, DPY19L1, SUN1, KIAA0895, LSM5, SOSTDC1, KBTBD2, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BBS9, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, NT5C3A, GET4, CCZ1, PALS2, CYCS
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059678
4.
GRCh37:
Chr7:54185-41915483
GRCh38:
Chr7:54185-41875885
LOC105375304, LOC106783574, LOC106799841, LOC106799845, ORS8, LOC107126281, LOC107126288, LOC107197952, LOC107983953, LOC107986752, LOC108254689, LOC108281146, SNORA20B, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121066, LOC110121099, LOC110121115, LOC110121156, LOC110121158, LOC110121162, LOC110121180, LOC110121185, LOC110121290, LOC110121291, LOC111365168, LOC111365184, LOC111365192, LOC111413014, LOC111465017, LOC111591502, CDK13-DT, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748390, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, LOC114827829, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116435278, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, LOC121175340, LOC121175341, ACTB, ADCYAP1R1, AHR, AMPH, AOAH, AQP1, SEPTIN7, CHN2, CRHR2, DGKB, GSDME, ETV1, EVX1, GARS1, GHRHR, GNA12, GPER1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, ICA1, IL6, INHBA, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDE1C, PDGFA, PMS2, PRKAR1B, RAC1, RALA, RP9, RPA3, SFRP4, FSCN1, SP4, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, CDK13, EIF3B, DNAH11, TAX1BP1, SKAP2, CYTH3, CREB5, NFE2L3, PHF14, HDAC9, RAPGEF5, SCRN1, KIAA0087, ELMO1, TRIL, AP5Z1, ARL4A, NOD1, GPNMB, AGR2, IGF2BP3, PPP1R17, KDELR2, ADAP1, NUP42, HIBADH, INMT, POU6F2, FKBP9, CBX3, AVL9, SNX13, IQCE, DPY19L1, SUN1, KIAA0895, LSM5, SOSTDC1, KBTBD2, OSBPL3, WIPI2, INTS1, VPS41, TSPAN13, EIF2AK1, BBS9, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, NT5C3A, NME8, GET4, CCZ1, PALS2, CYCS, ANLN, MIOS, RNF216, CPVL, TOMM7, TMEM106B, EPDR1, ZNF853, CYP2W1, DNAAF5, FLJ20712, FKBP14, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, YAE1, ANKMY2, TBX20, RBAK, NEUROD6, NPVF, HERPUD2, GGCT, C7orf26, MGC4859, MICALL2, SUGCT, FBXL18, TTYH3, EEPD1, STARD3NL, USP42, MINDY4, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, PLEKHA8, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, MPLKIP, C7orf31, AMZ1, AGR3, BMPER, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, MTURN, PRR15, FERD3L, SLC29A4, RSPH10B, ITPRID1, ZNRF2, TMEM196, STEAP1B, LINC02860, HOXA-AS2, INHBA-AS1, UNCX, COL28A1, ABCB5, FAM221A, MACC1, LINC00265, GPR141, NPSR1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GARS1-DT, LINC00997, LOC401324, GRIFIN, NPSR1-AS1, MIR148A, LOC441204, HRAT92, LOC442497, MIR339, MIR196B, TARP, IL6-AS1, WIPF3, LOC646588, LOC646762, OCM, SNORD93, MIR550A1, MIR550A2, MIR589, RSPH10B2, UMAD1, CRPPA, TSL, JAZF1-AS1, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, FOXL3-OT1, MIR1200, MIR1183, MIR1302-6, MIR548N, ANKRD61, HOTTIP, MIR3146, MIR550B2, MIR550B1, MIR3683, GLCCI1-DT, ICA1-AS1, CRPPA-AS1, LRRC72, MACC1-DT, LOC100506178, HOTAIRM1, LOC100506497, LINC01176, LOC100506725, TRG-AS1, LOC100507642, INMT-MINDY4, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR550A3, MIR4656, POU6F2-AS2, KLHL7-DT, ELMO1-AS1, POU6F2-AS1, MACC1-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, EVX1-AS, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, LOC101928168, SEPTIN7-DT, LOC101928618, SUGCT-AS1, LINC01450, LINC01449, HERPUD2-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, CHN2-AS1, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, TAX1BP1-AS1, FKBP14-AS1, LOC105375218, YAE1-DT, LOC105375303
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057453
5.
GRCh37:
Chr7:32718003-41084581
GRCh38:
Chr7:32678391-41044983
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151578
6.
GRCh37:
Chr7:33367924-61831899
GRCh38:
Chr7:33328312-62377476
LINC00957, LINC01445, LINC01446, LINC01447, LINC01448, LINC01449, LINC01450, LINC02838, LINC02902, LOC100128364, LOC100240728, LOC100506725, LOC100653233, LOC101928401, LOC101928618, LOC105375297, LOC106783492, LOC107986794, LOC108192210, LOC108281173, LOC110120590, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110121030, LOC110121066, LOC110121152, LOC110121180, LOC110121245, LOC111365168, LOC111591501, LOC113748389, LOC113748390, LOC113748393, LOC113748394, LOC113748397, LOC113748398, LOC113748399, LOC114004408, LOC114827829, LOC116183089, LOC120766156, LOC121175340, LOC121175341, LOC121175342, LOC121175343, LOC121175344, LOC401324, LOC401357, LOC730234, LOC730338, LUARIS, MIR1200, MIR3147, MIR3943, MIR4283-1, MIR4649, MIR4657, MIR548N, MIR6837, MIR6838, MPLKIP, MRPL32, MRPS17, MRPS24, MYL7, MYO1G, NACAD, NIPSNAP2, NME8, NPC1L1, NPSR1, NPSR1-AS1, NUDCD3, NUPR2, OGDH, ORS8, PGAM2, PHKG1, PKD1L1, PKD1L1-AS1, POLD2, POLM, POM121L12, POU6F2, POU6F2-AS1, POU6F2-AS2, PPIA, PSMA2, PSPH, PURB, RALA, RAMP3, SEC61G, SEC61G-DT, SEPTIN14, SEPTIN7, SEPTIN7-DT, SFRP4, SNHG15, SNORA15, SNORA20B, SNORA22B, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORD151, SPATA48, SPDYE1, STARD3NL, STK17A, SUGCT, SUGCT-AS1, SUMF2, SUN3, TARP, TBRG4, TBX20, TMED4, TNS3, TRG, TRG-AS1, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, UBE2D4, UPP1, URGCP, URGCP-MRPS24, VOPP1, VOPP1-DT, VPS41, VSTM2A, VSTM2A-OT1, VWC2, YAE1, YAE1-DT, YKT6, ZMIZ2, ZNF479, ZNF713, ZNF716, ZPBP, ABCA13, ADCY1, AEBP1, AMPH, ANLN, AOAH, AOAH-IT1, BBS9, BLVRA, BMPER, C7orf25, C7orf57, CAMK2B, CCM2, CCT6A, CDC14C, CDK13, CDK13-DT, CHCHD2, COA1, COBL, DBNL, DDC, DDC-AS1, DDX56, DKFZp434L192, DPY19L1, EEPD1, EGFR, EGFR-AS1, ELDR, ELMO1, ELMO1-AS1, EPDR1, FIGNL1, FLJ20712, FRA7A, GCK, GLI3, GPR141, GRB10, H2AZ2, H2AZ2-DT, HECW1, HECW1-IT1, HERPUD2, HERPUD2-AS1, HPVC1, HUS1, IGFBP1, IGFBP3, IKZF1, INHBA, INHBA-AS1, KIAA0895, LANCL2, LINC00265, LINC00525
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059680
7.
GRCh37:
Chr7:35241994
GRCh38:
Chr7:35202382
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132829
8.
GRCh37:
Chr7:35242029
GRCh38:
Chr7:35202417
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132828
9.
GRCh37:
Chr7:35242030
GRCh38:
Chr7:35202418
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132827
10.
GRCh37:
Chr7:35242055
GRCh38:
Chr7:35202443
TBX20T444MCardiovascular phenotype, not providedUncertain significance
(Apr 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000519187
11.
GRCh37:
Chr7:35242076
GRCh38:
Chr7:35202464
TBX20R437HCardiovascular phenotype, not providedUncertain significance
(Aug 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000519058
12.
GRCh37:
Chr7:35242077
GRCh38:
Chr7:35202465
TBX20R437CCardiovascular phenotype, not providedUncertain significance
(Sep 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000518611
13.
GRCh37:
Chr7:35242186
GRCh38:
Chr7:35202574
TBX20not providedLikely benign
(Feb 3, 2020)
criteria provided, single submitterVCV001218450
14.
GRCh37:
Chr7:35242197
GRCh38:
Chr7:35202585
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132826
15.
GRCh37:
Chr7:35242202
GRCh38:
Chr7:35202590
TBX20M395RAtrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132825
16.
GRCh37:
Chr7:35242274
GRCh38:
Chr7:35202662
TBX20S371NCardiovascular phenotypeUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV000519073
17.
GRCh37:
Chr7:35242278
GRCh38:
Chr7:35202666
TBX20T370PAtrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132824
18.
GRCh37:
Chr7:35242325-35242327
GRCh38:
Chr7:35202713-35202715
TBX20S355delnot providedUncertain significance
(Dec 27, 2016)
criteria provided, single submitterVCV000422993
19.
GRCh37:
Chr7:35242354
GRCh38:
Chr7:35202742
TBX20not providedLikely benign
(May 3, 2021)
criteria provided, single submitterVCV001193662
20.
GRCh37:
Chr7:35242369
GRCh38:
Chr7:35202757
TBX20Cardiovascular phenotype, Atrial septal defect 4, not provided
Benign/Likely benign
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000518383
21.
GRCh37:
Chr7:35242380
GRCh38:
Chr7:35202768
TBX20S336Tnot providedLikely benign
(Feb 27, 2019)
criteria provided, single submitterVCV001201775
22.
GRCh37:
Chr7:35242644
GRCh38:
Chr7:35203032
TBX20not providedLikely benign
(May 6, 2019)
criteria provided, single submitterVCV001200577
23.
GRCh37:
Chr7:35242712
GRCh38:
Chr7:35203100
TBX20not providedLikely benign
(Oct 22, 2018)
criteria provided, single submitterVCV001205289
24.
GRCh37:
Chr7:35243953
GRCh38:
Chr7:35204341
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132822
25.
GRCh37:
Chr7:35243983
GRCh38:
Chr7:35204371
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132823
26.
GRCh37:
Chr7:35244090
GRCh38:
Chr7:35204478
TBX20P332fsHypoplastic left heart syndrome, Wolff-Parkinson-White pattern, Hypoplastic right heart syndrome
Pathogenic
(Dec 1, 2015)
no assertion criteria providedVCV000438266
27.
GRCh37:
Chr7:35244091
GRCh38:
Chr7:35204479
TBX20P332SPrimary dilated cardiomyopathy, not providedUncertain significance
(Oct 3, 2019)
criteria provided, multiple submitters, no conflictsVCV000691824
28.
GRCh37:
Chr7:35244154
GRCh38:
Chr7:35204542
TBX20R311Cnot provided, Atrial septal defect 4, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(May 28, 2021)
criteria provided, conflicting interpretationsVCV000518384
29.
GRCh37:
Chr7:35244160
GRCh38:
Chr7:35204548
TBX20Y309DAtrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132833
30.
GRCh37:
Chr7:35244190
GRCh38:
Chr7:35204578
TBX20S299GCardiovascular phenotypeUncertain significance
(Oct 7, 2016)
criteria provided, single submitterVCV000518574
31.
GRCh37:
Chr7:35244508
GRCh38:
Chr7:35204896
TBX20not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV001196191
32.
GRCh37:
Chr7:35270988
GRCh38:
Chr7:35231376
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001244965
33.
GRCh37:
Chr7:35271012
GRCh38:
Chr7:35231400
TBX20not providedLikely benign
(Oct 27, 2018)
criteria provided, single submitterVCV001208513
34.
GRCh37:
Chr7:35271188
GRCh38:
Chr7:35231576
TBX20T273MCardiovascular phenotype, Atrial septal defect 4Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000519119
35.
GRCh37:
Chr7:35271254
GRCh38:
Chr7:35231642
TBX20not providedBenign
(Mar 31, 2019)
criteria provided, single submitterVCV001286671
36.
GRCh37:
Chr7:35280345-35280346
GRCh38:
Chr7:35240733-35240734
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001222025
37.
GRCh37:
Chr7:35280404
GRCh38:
Chr7:35240792
TBX20not providedBenign
(Sep 11, 2018)
criteria provided, single submitterVCV001248416
38.
GRCh37:
Chr7:35280509
GRCh38:
Chr7:35240897
TBX20not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV000762597
39.
GRCh37:
Chr7:35280519
GRCh38:
Chr7:35240907
TBX20T262Rnot providedUncertain significance
(Jul 24, 2017)
criteria provided, single submitterVCV000445561
40.
GRCh37:
Chr7:35280539
GRCh38:
Chr7:35240927
TBX20Cardiovascular phenotype, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000518492
41.
GRCh37:
Chr7:35280560
GRCh38:
Chr7:35240948
TBX20Cardiovascular phenotypeLikely benign
(Sep 22, 2017)
criteria provided, single submitterVCV000519037
42.
GRCh37:
Chr7:35280647
GRCh38:
Chr7:35241035
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132832
43.
GRCh37:
Chr7:35280662
GRCh38:
Chr7:35241050
TBX20not providedLikely benign
(Jan 20, 2020)
criteria provided, single submitterVCV001190731
44.
GRCh37:
Chr7:35280667
GRCh38:
Chr7:35241055
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132831
45.
GRCh37:
Chr7:35280693
GRCh38:
Chr7:35241081
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001222712
46.
GRCh37:
Chr7:35284583
GRCh38:
Chr7:35244971
TBX20N211Inot providedUncertain significance
(Dec 28, 2016)
criteria provided, single submitterVCV000392101
47.
GRCh37:
Chr7:35284632
GRCh38:
Chr7:35245020
TBX20Q195*Atrial septal defect 4Pathogenic
(Aug 1, 2007)
no assertion criteria providedVCV000004633
48.
GRCh37:
Chr7:35284677
GRCh38:
Chr7:35245065
TBX20Atrial septal defect 4Uncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000802304
49.
GRCh37:
Chr7:35284707
GRCh38:
Chr7:35245095
TBX20not providedLikely benign
(Oct 9, 2018)
criteria provided, single submitterVCV001181055
50.
GRCh37:
Chr7:35284961-35284962
GRCh38:
Chr7:35245349-35245350
TBX20not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001217429
51.
GRCh37:
Chr7:35285891-35285892
GRCh38:
Chr7:35246279-35246280
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132830
52.
GRCh37:
Chr7:35287987
GRCh38:
Chr7:35248375
TBX20not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitterVCV001205454
53.
GRCh37:
Chr7:35288068
GRCh38:
Chr7:35248456
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001243334
54.
GRCh37:
Chr7:35288213
GRCh38:
Chr7:35248601
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001241470
55.
GRCh37:
Chr7:35288276
GRCh38:
Chr7:35248664
TBX20not specifiedBenignno assertion criteria providedVCV001174684
56.
GRCh37:
Chr7:35288301
GRCh38:
Chr7:35248689
TBX20P178LAortic valve disease 1Uncertain significance
(Nov 14, 2018)
no assertion criteria providedVCV000590959
57.
GRCh37:
Chr7:35288307
GRCh38:
Chr7:35248695
TBX20D176AAortic valve disease 1Uncertain significance
(Nov 14, 2018)
no assertion criteria providedVCV000590958
58.
GRCh37:
Chr7:35288333
GRCh38:
Chr7:35248721
TBX20Cardiovascular phenotype, not providedBenign/Likely benign
(Jul 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000518497
59.
GRCh37:
Chr7:35288377
GRCh38:
Chr7:35248765
TBX20V153Inot providedUncertain significance
(Sep 29, 2020)
criteria provided, single submitterVCV001223434
60.
GRCh37:
Chr7:35288378
GRCh38:
Chr7:35248766
TBX20I152MAtrial septal defect 4Uncertain significance
(Mar 12, 2020)
criteria provided, single submitterVCV000004632
61.
GRCh37:
Chr7:35288394
GRCh38:
Chr7:35248782
TBX20I147Tnot providedUncertain significance
(Jul 9, 2019)
criteria provided, single submitterVCV001212433
62.
GRCh37:
Chr7:35288408
GRCh38:
Chr7:35248796
TBX20Cardiovascular phenotypeLikely benign
(Nov 21, 2016)
criteria provided, single submitterVCV000518959
63.
GRCh37:
Chr7:35288416
GRCh38:
Chr7:35248804
TBX20V140Mnot providedUncertain significance
(Apr 25, 2019)
criteria provided, single submitterVCV001187558
64.
GRCh37:
Chr7:35288420
GRCh38:
Chr7:35248808
TBX20not provided, Cardiovascular phenotypeLikely benign
(Oct 28, 2015)
criteria provided, single submitterVCV000264385
65.
GRCh37:
Chr7:35288493
GRCh38:
Chr7:35248881
TBX20not providedLikely benign
(Dec 2, 2019)
criteria provided, single submitterVCV001198910
66.
GRCh37:
Chr7:35289569
GRCh38:
Chr7:35249957
TBX20S125*Aortic valve disease 1Uncertain significance
(Nov 14, 2018)
no assertion criteria providedVCV000590957
67.
GRCh37:
Chr7:35289580
GRCh38:
Chr7:35249968
TBX20I121MAtrial septal defect 4Pathogenic
(Apr 1, 2010)
no assertion criteria providedVCV000004634
68.
GRCh37:
Chr7:35289589
GRCh38:
Chr7:35249977
TBX20Cardiovascular phenotypeLikely benign
(Dec 29, 2016)
criteria provided, single submitterVCV000518834
69.
GRCh37:
Chr7:35289646
GRCh38:
Chr7:35250034
TBX20Cardiovascular phenotype, not providedLikely benign
(Nov 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000519138
70.
GRCh37:
Chr7:35289670
GRCh38:
Chr7:35250058
TBX20not providedLikely benign
(Sep 28, 2018)
criteria provided, single submitterVCV001205699
71.
GRCh37:
Chr7:35289681
GRCh38:
Chr7:35250069
TBX20T88Anot providedUncertain significance
(Jun 28, 2017)
criteria provided, single submitterVCV000432984
72.
GRCh37:
Chr7:35289718
GRCh38:
Chr7:35250106
TBX20Cardiovascular phenotype, not providedLikely benign
(Mar 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000518635
73.
GRCh37:
Chr7:35289735
GRCh38:
Chr7:35250123
TBX20G70SPrimary dilated cardiomyopathyUncertain significance
(Jul 3, 2019)
criteria provided, single submitterVCV000691821
74.
GRCh37:
Chr7:35289889-35289890
GRCh38:
Chr7:35250277-35250278
TBX20not providedBenign
(Mar 31, 2019)
criteria provided, single submitterVCV001283998
75.
GRCh37:
Chr7:35289941-35289942
GRCh38:
Chr7:35250329-35250330
TBX20not providedBenign
(Mar 31, 2019)
criteria provided, single submitterVCV001231918
76.
GRCh37:
Chr7:35293060
GRCh38:
Chr7:35253449
TBX20not providedLikely benign
(Apr 21, 2019)
criteria provided, single submitterVCV001223762
77.
GRCh37:
Chr7:35293115
GRCh38:
Chr7:35253504
TBX20I39MAortic valve disease 1Uncertain significance
(Nov 14, 2018)
no assertion criteria providedVCV000590956
78.
GRCh37:
Chr7:35293146
GRCh38:
Chr7:35253535
TBX20S29Cnot providedUncertain significance
(May 12, 2020)
criteria provided, single submitterVCV001181575
79.
GRCh37:
Chr7:35293160
GRCh38:
Chr7:35253549
TBX20M24ICardiovascular phenotypeUncertain significance
(Jul 28, 2016)
criteria provided, single submitterVCV000519112
80.
GRCh37:
Chr7:35293193
GRCh38:
Chr7:35253582
TBX20Cardiovascular phenotype, not provided, Atrial septal defect 4
Benign
(Sep 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000518385
81.
GRCh37:
Chr7:35293222
GRCh38:
Chr7:35253611
TBX20T4SPrimary dilated cardiomyopathyLikely benigncriteria provided, single submitterVCV000978742
82.
GRCh37:
Chr7:35293228
GRCh38:
Chr7:35253617
TBX20E2Knot providedUncertain significanceno assertion criteria providedVCV001285113
83.
GRCh37:
Chr7:35293416
GRCh38:
Chr7:35253805
TBX20not providedBenign
(Oct 1, 2018)
criteria provided, single submitterVCV001178455
84.
GRCh37:
Chr7:35293417
GRCh38:
Chr7:35253806
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001247244
85.
GRCh37:
Chr7:35293598
GRCh38:
Chr7:35253987
TBX20not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV001204551
86.
GRCh37:
Chr7:35293748
GRCh38:
Chr7:35254137
TBX20Atrial septal defect 4Uncertain significanceno assertion criteria providedVCV000132821
87.
GRCh37:
Chr7:35293762
GRCh38:
Chr7:35254151
TBX20not providedLikely benign
(Oct 17, 2018)
criteria provided, single submitterVCV001193679
88.
GRCh37:
Chr7:35293972
GRCh38:
Chr7:35254361
TBX20not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001235355
89.
GRCh37:
Chr7:34859227-35374178
DPY19L1, TBX20, NPSR1, NPSR1-AS1not providedUncertain significance
(Dec 7, 2018)
no assertion criteria providedVCV000814956
90.
GRCh37:
Chr7:10365-159119707
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, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, 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, PALS2, LSM8, ADAM22, 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, DYNC2I1, RBM28, ZDHHC4, TYW1, TRAPPC14, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, DENND11, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, PKD1L1-AS1, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AZ2, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, LINC02903, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, ELAPOR2, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, LINC02860, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5,