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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr7:43360-27236023
GRCh38:
Chr7:43360-27196404
ACTB, AHR, DGKB, GSDME, ETV1, GNA12, GPER1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDGFA, PMS2, PRKAR1B, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, SKAP2, CYTH3, NFE2L3, PHF14, HDAC9, RAPGEF5, KIAA0087, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, ADAP1, NUP42, CBX3, SNX13, IQCE, SUN1, SOSTDC1, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, GET4, CCZ1, PALS2, CYCS, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, RBAK, NPVF, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, USP42, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, C7orf31, AMZ1, AGR3, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, LINC02860, HOXA-AS2, UNCX, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GRIFIN, MIR148A, LOC441204, HRAT92, LOC442497, MIR339, MIR196B, IL6-AS1, LOC646588, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, FOXL3-OT1, MIR1183, MIR1302-6, ANKRD61, MIR3146, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, HOTAIRM1, LOC100507642, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, HOXA10-AS, RNF216-IT1, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, LOC105375303, LOC105375304, LOC106783574, LOC106799841, LOC106799845, LOC107126281, LOC107197952, LOC107983953, LOC107986752, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120651, LOC110120700, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121115, LOC110121156, LOC110121162, LOC110121185, LOC110121290, LOC110121291, LOC111365184, LOC111365192, LOC111413014, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116435278
See casesPathogenic
(Sep 9, 2013)
no assertion criteria providedVCV000155519
2.
GRCh37:
Chr7:45130-25260784
GRCh38:
Chr7:45130-25221165
ACTB, AHR, DGKB, GSDME, ETV1, GNA12, GPER1, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDGFA, PMS2, PRKAR1B, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, CYTH3, PHF14, HDAC9, RAPGEF5, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, ADAP1, NUP42, SNX13, IQCE, SUN1, SOSTDC1, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BZW2, SNX8, TRA2A, MRM2, NXPH1, GET4, CCZ1, PALS2, CYCS, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, RBAK, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, USP42, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, C7orf31, AMZ1, AGR3, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, UNCX, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GRIFIN, HRAT92, LOC442497, MIR339, IL6-AS1, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, FOXL3-OT1, MIR1183, MIR1302-6, ANKRD61, MIR3146, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, LOC100507642, RBAK-RBAKDN, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, RNF216-IT1, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, LOC105375303, LOC106783574, LOC106799841, LOC106799845, LOC107986752, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120700, LOC110120728, LOC110120749, LOC110120758, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121162, LOC110121290, LOC110121291, LOC111365184, LOC111365192, LOC111413014, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116435278
See casesPathogenic
(Oct 7, 2011)
no assertion criteria providedVCV000148758
3.
GRCh37:
Chr7:53985-24401150
GRCh38:
Chr7:53985-24361531
ACTB, AHR, DGKB, ETV1, GNA12, GPER1, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDGFA, PMS2, PRKAR1B, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, CYTH3, PHF14, HDAC9, RAPGEF5, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, ADAP1, NUP42, SNX13, IQCE, SUN1, SOSTDC1, WIPI2, INTS1, TSPAN13, EIF2AK1, BZW2, SNX8, TRA2A, MRM2, NXPH1, GET4, CCZ1, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, RBAK, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, USP42, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, AMZ1, AGR3, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, UNCX, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GRIFIN, HRAT92, LOC442497, MIR339, IL6-AS1, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, FOXL3-OT1, MIR1183, MIR1302-6, ANKRD61, MIR3146, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, LOC100507642, RBAK-RBAKDN, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, RNF216-IT1, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, LOC105375303, LOC106783574, LOC106799841, LOC106799845, LOC107986752, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120700, LOC110120728, LOC110120749, LOC110120758, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121162, LOC110121290, LOC110121291, LOC111365192, LOC111413014, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116435278
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059676
4.
GRCh37:
Chr7:53985-159075220
GRCh38:
Chr7:53985-159282531
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, MIR11400, LOC114004405, LOC114004406, LOC114004407, LOC114004408, LOC114255744, H2BE1, ABCF2-H2BE1, LOC114827811, LOC114827812, LOC114827813, LOC114827814, LOC114827815, LOC114827816, LOC114827829, LOC114827835, LOC114841038, DUS4L-BCAP29, FOXL3, 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, WASL-DT, AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS1, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, KIAA0087, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-3, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, PALS2, LSM8, ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FLJ20712, 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, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, MGC4859, 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, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AZ2, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, PSMG3-AS1, 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, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, LINC02903, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, CDC14C, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, PAXIP1-DT, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, ELAPOR2, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, LINC02860, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR10AC1, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LNCRI, LOC401312, GARS1-DT, LINC00997, LOC401324, LINC02902, LINC01446, LOC401357, LRRD1, C7orf76, SMIM30, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE7P, SPDYE3, SPDYE2, AKR1B15, CTAGE15, HRAT92, ZNF727, OR2A2, LOC442497, SPDYE21, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, IL6-AS1, POLR2J3, MIR489, MIR490, CYP51A1-AS1, SPDYE14, ZNF862, SPDYE10P, SPDYE9, LOC644090, WIPF3, LINC02604, MNX1-AS1, LHFPL3-AS1, LOC646588, LOC646762, STMP1, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, SPDYE8, ZNF736, CASTOR2, SPDYE6, UMAD1, CRPPA, TMEM229A, LOC730234, ZNF735, LOC730338, LUZP6, MIR671, TSL, POM121C, SPDYE12P, HECW1-IT1, JAZF1-AS1, HTR5A-AS1, LOC100128317, LOC100128325, LOC100128364, CTAGE4, LOC100128653, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129484, LOC100129603, PCOLCE-AS1, ATP6V1FNB, EFCAB10, CREB3L2-AS1, SPATA48, ZNF316, WDR86-AS1, LOC100131472, PAXIP1-AS2, LOC100133091, HOXA-AS3, LOC100134040, KDM7A-DT, NDUFB2-AS1, UPK3BL1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, LOC100240728, RASA4B, LOC100286906, SMKR1, LOC100287704, LOC100287834, FOXL3-OT1, GS1-124K5.4, TMEM225B, ZNF783, MIR1200, MIR1183, MIR1302-6, MIR548N, MIR1285-1, SPDYE2B, ANKRD61, MIR548O, MIR548F4, HOTTIP, SAP25, MIR4283-2, MIR4285, MIR4283-1, MIR3147, MIR4284, MIR3146, MTRNR2L6, MIR3654, MIR3609, MIR3943, MIR550B2, MIR3907, MIR3914-1, MIR550B1, MIR3683, MIR3666, MIR3914-2, PRKAG2-AS1, SPDYE18, APTR, MAGI2-AS3, LINC00972, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LINC01005, LOC100506098, LOC100506136, LOC100506178, LOC100506302, HOTAIRM1, LINC01006, DOCK4-AS1, LOC100506497, LINC01176, LINC01007, PTPRN2-AS1, LOC100506682, LOC100506725, TRG-AS1, LINC00513, MKLN1-AS, LUARIS, LOC100506937, TMEM178B, CT66, EGFR-AS1, LOC100507507, LOC100507642, ATP5MF-PTCD1, INMT-MINDY4, GIMAP1-GIMAP5, RBAK-RBAKDN, HOXA10-HOXA9, URGCP-MRPS24, MIR4648, MIR4653, MIR4655, MIR4652, MIR4468, MIR4651, MIR4650-1, MIR4650-2, MIR4649, MIR550A3, MIR4467, MIR4657, MIR4658, MIR4656, LOC100630923, LOC100653233, POU6F2-AS2, KLHL7-DT, MIR5692C2, MIR5707, MIR5692A1, MIR5090, ELMO1-AS1, POU6F2-AS1, CYP3A7-CYP3A51P, MAGI2-AS2, MACC1-AS1, STEAP2-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, LOC100996249, COMETT, LOC100996365, LOC100996437, SEC61G-DT, SPDYE11, FMC1-LUC7L2, EVX1-AS, STAG3L5P-PVRIG2P-PILRB, LOC101926943, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, LOC101927243, CARD11-AS1, LOC101927269, LOC101927354, CACNA2D1-AS1, LOC101927378, MIOS-DT, LOC101927420, LOC101927446, CDK6-AS1, LINC02587, COL1A2-AS1, LOC101927550, LINC02889, PPP1R35-AS1, ZASP, LOC101927668, LNCPRESS1, EMSLR, LOC101927769, ITGB8-AS1, RNF32-AS1, LOC101927870, LOC101927914, LOC101927974, LOC101928012, HRAT17, LOC101928168, LOC101928211, LOC101928254, LOC101928283, GRM8-AS1, FAM131B-AS1, LOC101928401, OR2A1-AS1, SEPTIN7-DT, ARHGEF35-AS1, LOC101928618, CNTNAP2-AS1, SUGCT-AS1, LINC01450, LINC01449, LOC101928782, LINC01448, LOC101928807, LOC101928861, LINC01447, LINC01372, LOC101929998, HERPUD2-AS1, MIR6133, MIR6509, MIR6836, MIR6838, MIR6839, MIR6892, MIR6874, MIR6132, MIR6840, MIR6875, MIR6837, LINC02888, GHET1, LOC102723427, SPDYE16, LINC01445, LOC102723672, SPDYE17, SRI-AS1, PTTG1IP2, MUC12-AS1, LOC102724187, LINC01393, LOC102724434, CHN2-AS1, ASB15-AS1, LOC102725191, ELDR, LINC01287, LINC01162, LINC01392, SPDYE13, SPDYE15, LOC105369146, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, TAX1BP1-AS1, FKBP14-AS1, LOC105375218, LINC01952, LINC02838, LOC105375297, LOC105375303, LOC105375304, UPK3B, DDX3ILA1, LINC00972, TFPI2-DT, BET1-AS1, PPP1R9A-AS1, LOC105375423, LOC105375429, SLC12A9-AS1, LINC02476, LOC105375483, LINC02830, LOC105375504, LOC105375512, AGK-DT, TMEM139-AS1, LOC105375556, REPIN1-AS1, ZNF775-AS1, INSIG1-DT, MNX1-AS2, LINC01022, ZRS, LOC106029311, LOC106029312, LOC106029313, SBE2, LOC106049962, SCARNA28, LOC106707174, LOC106728418, LOC106783492, LOC106783574, LOC106799841, LOC106799845, LOC107057645, ORS8, LOC107126281, LOC107126288, LOC107197952, LOC107980434, LOC107983953, UPK3BL2, CICP24, LOC107986752, LOC107986794, FAM237B, CZ1P-ASNS, LOC107986845, LOC108004521, LOC108004522, LOC108192210, LOC108228208, LOC108228209, LOC108251801, LOC108254663, LOC108254673, LOC108254689, LOC108281146, LOC108281155, LOC108281173, LOC108491823, FRA7A, ERV3-1-ZNF117, SNORA15B-1, SNORA20B, SNORA22B, SNORA22C, SNORD65C, SNORA80D, SNORA15B-2, SNORD165, SNORA25B, SNORD151, SNORA114, LOC109623491, SNHG26, 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, FLNC-AS1, LOC110973015, CFTR-AS1, LOC111089942, HERV.E-PTN, LINC02577, 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, CDK13-DT, LOC112267991, LOC112268002, MIR10399, MIR10525, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, MIR12119, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058493
5.
GRCh37:
Chr7:54185-26867253
GRCh38:
Chr7:54185-26827634
ACTB, AHR, DGKB, GSDME, ETV1, GNA12, GPER1, HNRNPA2B1, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PDGFA, PMS2, PRKAR1B, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAFK, MAD1L1, EIF3B, DNAH11, SKAP2, CYTH3, NFE2L3, PHF14, HDAC9, RAPGEF5, KIAA0087, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, ADAP1, NUP42, CBX3, SNX13, IQCE, SUN1, SOSTDC1, OSBPL3, WIPI2, INTS1, TSPAN13, EIF2AK1, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, GET4, CCZ1, PALS2, CYCS, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, CYP2W1, DNAAF5, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, FAM20C, ANKMY2, RBAK, NPVF, C7orf26, MGC4859, MICALL2, FBXL18, TTYH3, USP42, PSMG3, C7orf50, CARD11, TNRC18, FAM126A, FAM220A, SCIN, ZFAND2A, COX19, CCDC126, GLCCI1, PSMG3-AS1, GPR146, MALSU1, C7orf31, AMZ1, AGR3, TMEM184A, VWDE, PRPS1L1, POLR1F, SP8, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, LINC02860, UNCX, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LNCRI, LOC401312, GRIFIN, MIR148A, LOC441204, HRAT92, LOC442497, MIR339, IL6-AS1, LOC646588, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100128653, LOC100129484, LOC100129603, ZNF316, LOC100131472, FOXL3-OT1, MIR1183, MIR1302-6, ANKRD61, MIR3146, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, LOC100507642, RBAK-RBAKDN, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, RNF216-IT1, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, MIR6836, MIR6874, LINC02888, LOC102723672, LOC102725191, LINC01162, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, LOC105375303, LOC105375304, LOC106783574, LOC106799841, LOC106799845, LOC107983953, LOC107986752, LOC108254689, LOC108281146, SNORD65C, SNORA80D, SNORD165, SNORA114, LOC109623491, SNHG26, LOC110120589, LOC110120649, LOC110120650, LOC110120651, LOC110120700, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121115, LOC110121156, LOC110121162, LOC110121185, LOC110121290, LOC110121291, LOC111365184, LOC111365192, LOC111413014, LOC111591502, LOC112267991, LOC113687173, LOC113687186, LOC113687202, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748400, LOC113748401, LOC113748402, LOC114004405, FOXL3, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116435278
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147357
6.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
LOC113748404, LOC113748405, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC113748415, LOC113748416, LOC113748417, LOC113748418, LOC113748419, LOC113748420, MIR11400, LOC114004405, LOC114004406, LOC114004407, LOC114004408, LOC114255744, H2BE1, ABCF2-H2BE1, LOC114827811, LOC114827812, LOC114827813, LOC114827814, LOC114827815, LOC114827816, LOC114827829, LOC114827835, LOC114841038, DUS4L-BCAP29, FOXL3, 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, WASL-DT, AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS1, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, KIAA0087, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-3, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, PALS2, LSM8, ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FLJ20712, 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, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, CYREN, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, MGC4859, 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, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AZ2, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, PSMG3-AS1, 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, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, LINC02903, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, CDC14C, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, PAXIP1-DT, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, ELAPOR2, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, LINC02860, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPTIN14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR10AC1, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LNCRI, LOC401312, GARS1-DT, LINC00997, LOC401324, LINC02902, LINC01446, LOC401357, LRRD1, C7orf76, SMIM30, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE7P, SPDYE3, SPDYE2, AKR1B15, CTAGE15, HRAT92, ZNF727, OR2A2, LOC442497, SPDYE21, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, IL6-AS1, POLR2J3, MIR489, MIR490, CYP51A1-AS1, SPDYE14, ZNF862, SPDYE10P, SPDYE9, LOC644090, WIPF3, LINC02604, MNX1-AS1, LHFPL3-AS1, LOC646588, LOC646762, STMP1, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, SPDYE8, ZNF736, CASTOR2, SPDYE6, UMAD1, CRPPA, TMEM229A, LOC730234, ZNF735, LOC730338, LUZP6, MIR671, TSL, POM121C, SPDYE12P, HECW1-IT1, JAZF1-AS1, HTR5A-AS1, LOC100128317, LOC100128325, LOC100128364, CTAGE4, LOC100128653, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129484, LOC100129603, PCOLCE-AS1, ATP6V1FNB, EFCAB10, CREB3L2-AS1, SPATA48, ZNF316, WDR86-AS1, LOC100131472, PAXIP1-AS2, LOC100133091, HOXA-AS3, LOC100134040, KDM7A-DT, NDUFB2-AS1, UPK3BL1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1, TRC-GCA21-1, TRC-GCA9-3, TRC-GCA9-4, TRR-CCT4-1, TRC-GCA9-2, TRS-AGA5-1, KMT2E-AS1, LINC01004, LOC100240728, RASA4B, LOC100286906, SMKR1, LOC100287704, LOC100287834, FOXL3-OT1, GS1-124K5.4, TMEM225B, ZNF783, MIR1200, MIR1183, MIR1302-6, MIR548N, MIR1285-1, SPDYE2B, ANKRD61, MIR548O, MIR548F4, HOTTIP, SAP25, MIR4283-2, MIR4285, MIR4283-1, MIR3147, MIR4284, MIR3146, MTRNR2L6, MIR3654, MIR3609, MIR3943, MIR550B2, MIR3907, MIR3914-1, MIR550B1, MIR3683, MIR3666, MIR3914-2, PRKAG2-AS1, SPDYE18, APTR, MAGI2-AS3, LINC00972, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LINC01005, LOC100506098, LOC100506136, LOC100506178, LOC100506302, HOTAIRM1, LINC01006, DOCK4-AS1, LOC100506497, LINC01176, LINC01007, PTPRN2-AS1, LOC100506682, LOC100506725, TRG-AS1, LINC00513, MKLN1-AS, LUARIS, LOC100506937, TMEM178B, CT66, EGFR-AS1, LOC100507507, LOC100507642, ATP5MF-PTCD1, INMT-MINDY4, GIMAP1-GIMAP5, RBAK-RBAKDN, HOXA10-HOXA9, URGCP-MRPS24, MIR4648, MIR4653, MIR4655, MIR4652, MIR4468, MIR4651, MIR4650-1, MIR4650-2, MIR4649, MIR550A3, MIR4467, MIR4657, MIR4658, MIR4656, LOC100630923, LOC100653233, POU6F2-AS2, KLHL7-DT, MIR5692C2, MIR5707, MIR5692A1, MIR5090, ELMO1-AS1, POU6F2-AS1, CYP3A7-CYP3A51P, MAGI2-AS2, MACC1-AS1, STEAP2-AS1, AOAH-IT1, HOXA10-AS, RNF216-IT1, LOC100996249, COMETT, LOC100996365, LOC100996437, SEC61G-DT, SPDYE11, FMC1-LUC7L2, EVX1-AS, STAG3L5P-PVRIG2P-PILRB, LOC101926943, PRKAR1B-AS1, PRKAR1B-AS2, ZFAND2A-DT, ELFN1-AS1, LOC101927181, LOC101927243, CARD11-AS1, LOC101927269, LOC101927354, CACNA2D1-AS1, LOC101927378, MIOS-DT, LOC101927420, LOC101927446, CDK6-AS1, LINC02587, COL1A2-AS1, LOC101927550, LINC02889, PPP1R35-AS1, ZASP, LOC101927668, LNCPRESS1, EMSLR, LOC101927769, ITGB8-AS1, RNF32-AS1, LOC101927870, LOC101927914, LOC101927974, LOC101928012, HRAT17, LOC101928168, LOC101928211, LOC101928254, LOC101928283, GRM8-AS1, FAM131B-AS1, LOC101928401, OR2A1-AS1, SEPTIN7-DT, ARHGEF35-AS1, LOC101928618, CNTNAP2-AS1, SUGCT-AS1, LINC01450, LINC01449, LOC101928782, LINC01448, LOC101928807, LOC101928861, LINC01447, LINC01372, LOC101929998, HERPUD2-AS1, MIR6133, MIR6509, MIR6836, MIR6838, MIR6839, MIR6892, MIR6874, MIR6132, MIR6840, MIR6875, MIR6837, LINC02888, GHET1, LOC102723427, SPDYE16, LINC01445, LOC102723672, SPDYE17, SRI-AS1, PTTG1IP2, MUC12-AS1, LOC102724187, LINC01393, LOC102724434, CHN2-AS1, ASB15-AS1, LOC102725191, ELDR, LINC01287, LINC01162, LINC01392, SPDYE13, SPDYE15, LOC105369146, LOC105375115, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, TAX1BP1-AS1, FKBP14-AS1, LOC105375218, LINC01952, LINC02838, LOC105375297, LOC105375303, LOC105375304, UPK3B, DDX3ILA1, LINC00972, TFPI2-DT, BET1-AS1, PPP1R9A-AS1, LOC105375423, LOC105375429, SLC12A9-AS1, LINC02476, LOC105375483, LINC02830, LOC105375504, LOC105375512, AGK-DT, TMEM139-AS1, LOC105375556, REPIN1-AS1, ZNF775-AS1, INSIG1-DT, MNX1-AS2, LINC01022, ZRS, LOC106029311, LOC106029312, LOC106029313, SBE2, LOC106049962, SCARNA28, LOC106707174, LOC106728418, LOC106783492, LOC106783574, LOC106799841, LOC106799845, LOC107057645, ORS8, LOC107126281, LOC107126288, LOC107197952, LOC107980434, LOC107983953, UPK3BL2, CICP24, LOC107986752, LOC107986794, FAM237B, CZ1P-ASNS, LOC107986845, LOC108004521, LOC108004522, LOC108192210, LOC108228208, LOC108228209, LOC108251801, LOC108254663, LOC108254673, LOC108254689, LOC108281146, LOC108281155, LOC108281173, LOC108491823, FRA7A, ERV3-1-ZNF117, SNORA15B-1, SNORA20B, SNORA22B, SNORA22C, SNORD65C, SNORA80D, SNORA15B-2, SNORD165, SNORA25B, SNORD151, SNORA114, LOC109623491, SNHG26, 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, FLNC-AS1, LOC110973015, CFTR-AS1, LOC111089942, HERV.E-PTN, LINC02577, 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, CDK13-DT, LOC112267991, LOC112268002, MIR10399, MIR10525, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, MIR12119, 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
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146075
7.
GRCh37:
Chr7:54185-37129317
GRCh38:
Chr7:54185-37089712
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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059678
8.
GRCh37:
Chr7:54185-41915483
GRCh38:
Chr7:54185-41875885
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, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, 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, LOC105375303, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057453
9.
GRCh37:
Chr7:1737760-27246914
GRCh38:
Chr7:1698124-27207295
ACTB, AHR, DGKB, GSDME, ETV1, GNA12, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, ICA1, IL6, ITGB8, LFNG, MEOX2, NUDT1, NDUFA4, NPY, PMS2, RAC1, RPA3, FSCN1, SP4, TWIST1, ZNF12, AIMP2, MAD1L1, EIF3B, DNAH11, SKAP2, CYTH3, NFE2L3, PHF14, HDAC9, RAPGEF5, KIAA0087, AP5Z1, ARL4A, GPNMB, AGR2, IGF2BP3, KDELR2, NUP42, CBX3, SNX13, IQCE, SOSTDC1, OSBPL3, WIPI2, TSPAN13, EIF2AK1, BZW2, SNX8, SNX10, TRA2A, MRM2, NXPH1, CCZ1, PALS2, CYCS, MIOS, RNF216, TOMM7, TMEM106B, ZNF853, ZDHHC4, CHST12, CDCA7L, RADIL, KLHL7, STK31, PAPOLB, C1GALT1, ANKMY2, RBAK, NPVF, C7orf26, MGC4859, FBXL18, TTYH3, USP42, CARD11, TNRC18, FAM126A, FAM220A, SCIN, CCDC126, GLCCI1, MALSU1, C7orf31, AMZ1, AGR3, VWDE, PRPS1L1, POLR1F, SP8, HOXA11-AS, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, FERD3L, SLC29A4, RSPH10B, TMEM196, STEAP1B, LINC02860, HOXA-AS2, COL28A1, ABCB5, FAM221A, MACC1, RBAKDN, ELFN1, AGMO, GRID2IP, LOC401312, GRIFIN, MIR148A, LOC441204, MIR196B, IL6-AS1, LOC646588, OCM, SNORD93, MIR589, RSPH10B2, UMAD1, CRPPA, LOC100129484, LOC100129603, ZNF316, LOC100131472, HOXA-AS3, MIR1183, MIR1302-6, ANKRD61, HOTTIP, MIR3146, MIR3683, GLCCI1-DT, LOC100505938, CRPPA-AS1, LRRC72, LOC100506098, LOC100506178, HOTAIRM1, RBAK-RBAKDN, HOXA10-HOXA9, MIR4648, MIR4655, MIR4656, KLHL7-DT, MACC1-AS1, HOXA10-AS, RNF216-IT1, ELFN1-AS1, LOC101927181, CARD11-AS1, LOC101927354, MIOS-DT, LINC02587, LINC02889, LOC101927668, LOC101927769, ITGB8-AS1, MIR6836, MIR6874, LINC02888, LOC102725191, LINC01162, LOC105375131, SDK1-AS1, LOC105375166, HDAC9-AS1, LOC105375304, LOC106783574, LOC106799845, LOC107126281, LOC107126288, LOC107197952, LOC107983953, LOC108254689, SNORD65C, SNORA80D, SNORD165, SNORA114, SNHG26, LOC110120589, LOC110120650, LOC110120651, LOC110120700, LOC110120728, LOC110120749, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120961, LOC110120964, LOC110121006, LOC110121034, LOC110121058, LOC110121115, LOC110121156, LOC110121162, LOC110121185, LOC110121290, LOC110121291, LOC111365184, LOC111365192, LOC111413014, LOC111591502, LOC113687186, LOC113687203, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748387, LOC113748391, LOC113748392, LOC113748395, LOC113748396, LOC113748402, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087
See casesPathogenic
(Sep 17, 2012)
no assertion criteria providedVCV000154993
10.
GRCh37:
Chr7:5721840-27269930
GRCh38:
Chr7:5682209-27230311