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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABCF2-H2BK1, ABHD11, ABHD11-AS1, ACHE, ACTB, ACTL6B, ACTR3B, ACTR3C, ADAM22, ADAP1, ADCK2, ADCY1, ADCYAP1R1, AEBP1, AGAP3, AGBL3, AGFG2, AGK, AGK-DT, AGMO, AGR2, AGR3, AHCYL2, AHR, AIMP2, AKAP9, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANKRD7, ANLN, AOAH, AOAH-IT1, AOC1, AP1S1, AP4M1, AP5Z1, APTR, AQP1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ARL4A, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB15-AS1, ASB4, ASIC3, ASL, ASNS, ASZ1, ATG9B, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BET1-AS1, BHLHA15, BLACE, BLVRA, BMPER, BMT2, BPGM, BRAF, BRAT1, BRI3, BUD23, BUD31, BZW2, C1GALT1, C7orf25, C7orf31, C7orf33, C7orf50, C7orf57, C7orf76, CACNA2D1, CACNA2D1-AS1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CARD11, CARD11-AS1, CASD1, CASP2, CASTOR2, CAV1, CAV2, CBLL1, CBLL1-AS1, CBX3, CCDC126, CCDC136, CCDC146, CCDC201, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CCZ1, CCZ1B, CD36, CDC14C, CDCA7L, CDHR3, CDK13, CDK13-DT, CDK14, CDK5, CDK6, CDK6-AS1, CEP41, CFAP69, CFTR, CFTR-AS1, CHCHD2, CHCHD3, CHN2, CHN2-AS1, CHPF2, CHRM2, CHST12, CICP24, CLCN1, CLDN12, CLDN15, CLDN3, CLDN4, CLEC2L, CLEC5A, CLIP2, CNOT4, CNPY1, CNPY4, CNTNAP2, CNTNAP2-AS1, COA1, COBL, COG5, COL1A2, COL1A2-AS1, COL26A1, COL28A1, COMETT, COPG2, COPG2IT1, COPS6, COX19, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CPVL-AS2, 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, EFCAB10-AS1, 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, FAM131B, FAM131B-AS1, FAM131B-AS2, FAM133B, FAM180A, FAM185A, FAM200A, FAM20C, FAM220A, FAM221A, PRKAR2B, PRKAR2B-AS1, PRKRIP1, PRPS1L1, PRR15, PRR15-DT, 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, RBM33-DT, RBM48, RCC1L, RELN, REPIN1, REPIN1-AS1, RFC2, RHBDD2, RHEB, RINT1, RNF133, RNF148, RNF216, RNF216-IT1, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, RSBN1L, RSPH10B, RSPH10B2, RUNDC3B, SAGSIN1, SAMD9, SAMD9L, SAP25, SBDS, SBE2, SCARNA28, SCIN, SCRN1, SDHAF3, SDK1, SDK1-AS1, SEC61G, SEC61G-DT, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SEPTIN7-DT, SERPINE1, SFRP4, SGCE, SH2B2, SHH, SKAP2, SLC12A9, SLC12A9-AS1, SLC13A1, SLC13A4, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMIM30, SMKR1, SMO, SMURF1, SND1, SND1-DT, 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, SPACDR, 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, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L5P-PVRIG2P-PILRB, STARD3NL, STEAP1, STEAP1B, STEAP1B-AS1, STEAP2, STEAP2-AS1, STEAP4, STK17A, STK31, STMP1, STRA8, STRIP2, STX1A, STYXL1, SUGCT, SUGCT-AS1, SUMF2, SUN1, SUN3, SVOPL, SYPL1, TAC1, TAF6, TARP, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TAX1BP1, TAX1BP1-AS1, TBL2, TBRG4, TBX20, TBXAS1, TCAF1, TCAF2, TECPR1, TES, TEX47, TFEC, TFPI2, TFPI2-DT, TFR2, THAP5, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM139, TMEM139-AS1, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM196, TMEM209, TMEM213, TMEM225B, TMEM229A, TMEM243, TMEM248, TMEM270, TMEM60, TMUB1, TNPO3, TNRC18, TNS3, TOMM7, TP53TG1, TPK1, TPST1, TRA2A, TRAPPC14, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRG, TRG-AS1, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, TSC22D4-C7ORF61, TSGA13, TSL, TSPAN12, TSPAN13, TSPAN33, TTYH3, TWIST1, TYW1, TYW1B, UBE2D4, UBE2H, UBE2H-DT, UBE3C, UBN2, UFSP1, UMAD1, UNCX, UPK3B, UPK3BL1, UPK3BL2, UPP1, URGCP, URGCP-MRPS24, USP42, VGF, VIPR2, VKORC1L1, VOPP1, VOPP1-DT, VPS37D, VPS41, VPS50, VSTM2A, VSTM2A-OT1, VWC2, VWDE, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WIPF3, WIPI2, WNT16, WNT2, XRCC2, YAE1, YAE1-DT, YKT6, YWHAG, ZAN, ZASP, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZDHHC4, ZFAND2A, ZFAND2A-DT, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF277, ZNF282, ZNF3, ZNF316, ZNF394, ZNF398, ZNF425, ZNF467, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF722, ZNF727, ZNF735, ZNF736, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZRS, ZSCAN21, ZSCAN25, ZYX, FAM237B, FAM3C, 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, GARIN1A, GARIN1B, GARS1, GARS1-DT, GATAD1, GBX1, GCC1, GCK, GET4, GGCT, GHET1, GHRHR, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GIRGL, 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, GSAP, GSDME, GSTK1, GTF2I, GTF2I-AS1, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, H2AZ2-DT, H2BK1, HBP1, HDAC9, HDAC9-AS1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HERPUD2-AS1, HERV.E-PTN, HGF, HIBADH, HILPDA, HIP1, HIPK2, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA-AS2, HOXA-AS3, HOXA1, HOXA10, HOXA10-AS, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HRAT17, HSPB1, HTR5A, HTR5A-AS1, HUS1, HYAL4, HYCC1, ICA1, ICA1-AS1, IFRD1, IFT22, IFT56, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IL6-AS1, IMMP2L, IMPDH1, ING3, INHBA, INHBA-AS1, INMT, INMT-MINDY4, INSIG1, INSIG1-DT, INTS1, INTS15, IQCA1L, IQCE, IQUB, IRF5, ITGB8, ITGB8-AS1, ITPRID1, JAZF1, JAZF1-AS1, KBTBD2, KCND2, KCNH2, KCP, KCTD7, KDELR2, KDM7A, KDM7A-DT, KEL, KIAA0087, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-DT, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LFNG, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LIMK1, LINC-PINT, LINC00174, LINC00244, LINC00265, LINC00513, LINC00525, LINC00689, LINC00957, LINC00972, LINC00996, LINC00997, LINC01000, LINC01003, LINC01004, LINC01005, LINC01007, LINC01022, LINC01162, LINC01176, LINC01287, LINC01372, LINC01392, LINC01393, LINC01445, LINC01446, LINC01447, LINC01448, LINC01449, LINC01450, LINC02476, LINC02577, LINC02587, LINC02604, LINC02830, LINC02838, LINC02860, LINC02888, LINC02889, LINC02902, LINC02903, LINC02932, LINC02981, LINC02983, LINC03006, LINC03007, LINC03008, LINC03009, LINC03010, LINC03011, LINC03012, LINC03013, LINC03014, LINC03015, LINC03016, LINC03017, LINC03043, LINC03060, LINC03076, LINC03095, LLCFC1, LMBR1, LMOD2, LMTK2, LNCPRESS1, LNCRI, LOC100128317, LOC100128364, LOC100128653, LOC100128885, LOC100129148, LOC100129603, LOC100131472, LOC100134040, LOC100240728, LOC100287704, LOC100287834, LOC100506136, LOC100506937, LOC100630923, LOC100996365, LOC100996437, LOC101927181, LOC101927243, LOC101927269, LOC101927446, LOC101927550, LOC101927668, LOC101927769, LOC101927914, LOC101928012, LOC101928168, LOC101928211, LOC101928254, LOC101928283, LOC101928401, LOC101928618, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102723427, LOC102724187, LOC102724434, LOC102725191, LOC105369146, LOC105375115, LOC105375131, LOC105375166, LOC105375218, LOC105375297, LOC105375303, LOC105375423, LOC105375429, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106029311, LOC106029312, LOC106029313, LOC106049962, LOC106707174, LOC106728418, LOC106783492, LOC106783574, LOC106799841, LOC106799845, LOC107057645, LOC107126281, LOC107126288, LOC107197952, LOC107980434, LOC107983953, LOC107986752, LOC107986794, LOC107986845, LOC108004521, LOC108004522, LOC108192210, LOC108228208, LOC108228209, LOC108251801, LOC108254663, LOC108254673, LOC108254689, LOC108281146, LOC108281155, LOC108281173, LOC108491823, LOC109623491, LOC110120589, LOC110120590, LOC110120618, LOC110120619, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120653, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120735, LOC110120749, LOC110120753, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120804, LOC110120810, LOC110120813, LOC110120822, LOC110120961, LOC110120964, LOC110120983, LOC110121006, LOC110121022, LOC110121030, LOC110121034, LOC110121044, LOC110121049, LOC110121058, LOC110121066, LOC110121094, LOC110121097, LOC110121099, LOC110121115, LOC110121152, LOC110121156, LOC110121158, LOC110121162, LOC110121164, LOC110121165, LOC110121166, LOC110121167, LOC110121168, LOC110121172, LOC110121180, LOC110121181, LOC110121185, LOC110121203, LOC110121207, LOC110121210, LOC110121212, LOC110121245, LOC110121252, LOC110121253, LOC110121254, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110121290, LOC110121291, LOC110121292, LOC110121293, LOC110121294, LOC110121295, LOC110121296, LOC110121297, LOC110121298, LOC110121299, LOC110121300, LOC110121304, LOC110121310, LOC110366354, LOC110366355, LOC110599567, LOC110599591, LOC110599592, LOC110973015, LOC111089942, LOC111365160, LOC111365161, LOC111365168, LOC111365177, LOC111365184, LOC111365192, LOC111413014, LOC111413044, LOC111413046, LOC111465017, LOC111591501, LOC111591502, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC111776221, LOC112267991, LOC112268002, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687173, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687186, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687202, LOC113687203, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748390, LOC113748391, LOC113748392, LOC113748393, LOC113748394, LOC113748395, LOC113748396, LOC113748397, LOC113748398, LOC113748399, LOC113748400, LOC113748401, LOC113748402, LOC113748403, LOC113748404, LOC113748405, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC113748415, LOC113748416, LOC113748417, LOC113748418, LOC113748419, LOC113748420, LOC114004405, LOC114004406, LOC114004407, LOC114004408, LOC114255744, LOC114827811, LOC114827812, LOC114827813, LOC114827814, LOC114827815, LOC114827816, LOC114827829, LOC114827835, LOC114841038, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116183089, LOC116183090, LOC116183091, LOC116183092, LOC116183093, LOC116183094, LOC116183095, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC116435278, LOC120766156, LOC120807605, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, LOC121175340, LOC121175341, LOC121175342, LOC121175343, LOC121175344, LOC121175345, LOC121175346, LOC121175347, LOC121175348, LOC121175349, LOC121175350, LOC121175351, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740675, LOC121740676, LOC121740677, LOC121740678, LOC121740679, LOC121740680, LOC121740681, LOC121740682, LOC121740683, LOC121740684, LOC121740685, LOC121740686, LOC121740687, LOC121740688, LOC121740689, LOC121740690, LOC121740691, LOC121740692, LOC121740693, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC123924885, LOC123924886, LOC123924887, LOC123924888, LOC123924889, LOC123924890, LOC123924891, LOC123924892, LOC123924893, LOC123924894, LOC123924895, LOC123924896, LOC123924897, LOC123924898, LOC123924899, LOC123924900, LOC123924901, LOC123924902, LOC123924903, LOC123924904, LOC123924905, LOC123924906, LOC123924907, LOC123924908, LOC123924909, LOC123924910, LOC123924911, LOC123924912, LOC123924913, LOC123924914, LOC123924915, LOC123924916, LOC123924917, LOC123924918, LOC123924919, LOC123924920, LOC123924921, LOC123956119, LOC123956120, LOC123956121, LOC123956122, LOC123956123, LOC123956124, LOC123956125, LOC123956126, LOC123956127, LOC123956128, LOC123956129, LOC123956130, LOC123956131, LOC123956132, LOC123956133, LOC123956134, LOC123956135, LOC123956136, LOC123956137, LOC123956138, LOC123956139, LOC123956140, LOC123956141, LOC123956142, LOC123956143, LOC123956144, LOC123956145, LOC123956146, LOC123956147, LOC123956148, LOC123956149, LOC123956150, LOC123956151, LOC123956152, LOC123956154, LOC123956155, LOC123956156, LOC123956157, LOC123956158, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC123956172, LOC123956173, LOC123956174, LOC123956175, LOC123956176, LOC123956177, LOC123956178, LOC123956179, LOC123956180, LOC123956181, LOC123956182, LOC123956183, LOC123956184, LOC123956185, LOC123956186, LOC123956187, LOC123956188, LOC123956189, LOC123956190, LOC123956191, LOC123956192, LOC123956193, LOC123956194, LOC123956195, LOC123956196, LOC123956197, LOC123956198, LOC123956199, LOC123956200, LOC123956201, LOC123956202, LOC123956203, LOC123956204, LOC123956205, LOC123956206, LOC123956207, LOC123956208, LOC123956209, LOC123956210, LOC123956211, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC123956219, LOC123956220, LOC123956221, LOC123956222, LOC123956223, LOC123956224, LOC123956225, LOC123956226, LOC123956227, LOC123956228, LOC123956229, LOC123956230, LOC123956231, LOC123956232, LOC123956233, LOC123956234, LOC123956235, LOC123956236, LOC123956237, LOC123956238, LOC123956239, LOC123956240, LOC123956241, LOC123956242, LOC123956243, LOC123956244, LOC123956245, LOC123956246, LOC123956247, LOC123956248, LOC123956249, LOC123956250, LOC123956253, LOC123956254, LOC123956255, LOC123956257, LOC123956258, LOC123956259, LOC123956260, LOC123956261, LOC123956262, LOC123956263, LOC123956264, LOC123956265, LOC123956266, LOC123956267, LOC123956268, LOC123956269, LOC123956270, LOC123956271, LOC123956272, LOC123956273, LOC123956274, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC123956285, LOC126859916, LOC126859917, LOC126859918, LOC126859919, LOC126859920, LOC126859921, LOC126859922, LOC126859923, LOC126859924, LOC126859925, LOC126859926, LOC126859927, LOC126859928, LOC126859929, LOC126859930, LOC126859931, LOC126859932, LOC126859933, LOC126859934, LOC126859935, LOC126859936, LOC126859937, LOC126859938, LOC126859939, LOC126859940, LOC126859941, LOC126859942, LOC126859943, LOC126859944, LOC126859945, LOC126859946, LOC126859947, LOC126859948, LOC126859949, LOC126859950, LOC126859951, LOC126859952, LOC126859953, LOC126859954, LOC126859955, LOC126859956, LOC126859957, LOC126859958, LOC126859959, LOC126859960, LOC126859961, LOC126859962, LOC126859963, LOC126859964, LOC126859965, LOC126859966, LOC126859967, LOC126859968, LOC126859969, LOC126859970, LOC126859971, LOC126859972, LOC126859973, LOC126859974, LOC126859975, LOC126859976, LOC126859977, LOC126859978, LOC126859979, LOC126859980, LOC126859981, LOC126859982, LOC126859983, LOC126859984, LOC126859985, LOC126859986, LOC126859987, LOC126859988, LOC126859989, LOC126859990, LOC126859991, LOC126859992, LOC126859993, LOC126859994, LOC126859995, LOC126859996, LOC126859997, LOC126859998, LOC126859999, LOC126860000, LOC126860001, LOC126860002, LOC126860003, LOC126860004, LOC126860005, LOC126860006, LOC126860007, LOC126860008, LOC126860009, LOC126860010, LOC126860011, LOC126860012, LOC126860013, LOC126860014, LOC126860015, LOC126860016, LOC126860017, LOC126860018, LOC126860019, LOC126860020, LOC126860021, LOC126860022, LOC126860023, LOC126860024, LOC126860025, LOC126860026, LOC126860027, LOC126860028, LOC126860029, LOC126860030, LOC126860031, LOC126860032, LOC126860033, LOC126860034, LOC126860035, LOC126860036, LOC126860037, LOC126860038, LOC126860039, LOC126860040, LOC126860041, LOC126860042, LOC126860043, LOC126860044, LOC126860045, LOC126860046, LOC126860047, LOC126860048, LOC126860049, LOC126860050, LOC126860051, LOC126860052, LOC126860053, LOC126860054, LOC126860055, LOC126860056, LOC126860057, LOC126860058, LOC126860059, LOC126860060, LOC126860061, LOC126860062, LOC126860063, LOC126860064, LOC126860065, LOC126860066, LOC126860067, LOC126860068, LOC126860069, LOC126860070, LOC126860071, LOC126860072, LOC126860073, LOC126860074, LOC126860075, LOC126860076, LOC126860077, LOC126860078, LOC126860079, LOC126860080, LOC126860081, LOC126860082, LOC126860083, LOC126860084, LOC126860085, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC126860092, LOC126860093, LOC126860094, LOC126860095, LOC126860096, LOC126860097, LOC126860098, LOC126860099, LOC126860100, LOC126860101, LOC126860102, LOC126860103, LOC126860104, LOC126860105, LOC126860106, LOC126860107, LOC126860108, LOC126860109, LOC126860110, LOC126860111, LOC126860112, LOC126860113, LOC126860114, LOC126860115, LOC126860116, LOC126860117, LOC126860118, LOC126860119, LOC126860120, LOC126860121, LOC126860122, LOC126860123, LOC126860124, LOC126860125, LOC126860126, LOC126860127, LOC126860128, LOC126860129, LOC126860130, LOC126860131, LOC126860132, LOC126860133, LOC126860134, LOC126860135, LOC126860136, LOC126860137, LOC126860138, LOC126860139, LOC126860140, LOC126860141, LOC126860142, LOC126860143, LOC126860144, LOC126860145, LOC126860146, LOC126860147, LOC126860148, LOC126860149, LOC126860150, LOC126860151, LOC126860152, LOC126860153, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC126860169, LOC126860170, LOC126860171, LOC126860172, LOC126860173, LOC126860174, LOC126860175, LOC126860176, LOC126860177, LOC126860178, LOC126860179, LOC126860180, LOC126860181, LOC126860182, LOC126860183, LOC126860184, LOC126860185, LOC126860186, LOC126860187, LOC126860188, LOC126860189, LOC126860190, LOC126860191, LOC126860192, LOC126860193, LOC126860194, LOC126860195, LOC126860196, LOC126860197, LOC126860198, LOC126860199, LOC126860200, LOC126860201, LOC126860202, LOC126860203, LOC126860204, LOC126860205, LOC126860206, LOC126860207, LOC126860208, LOC126860209, LOC126860210, LOC126860211, LOC126860212, LOC126860213, LOC126860214, LOC126860215, LOC126860216, LOC126860217, LOC126860218, LOC126860219, LOC126860220, LOC126860221, LOC126860222, LOC126860223, LOC126860224, LOC126860225, LOC126860226, LOC126860227, LOC126860228, LOC126860229, LOC126860230, LOC126860231, LOC126860232, LOC126860233, LOC126860234, LOC126860235, LOC126860236, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC126860263, LOC126860264, LOC126860265, LOC128031837, LOC128092247, LOC128772304, LOC128772305, LOC128772306, LOC128772307, LOC128772308, LOC128772309, LOC128772310, LOC128772311, LOC128772312, LOC128772313, LOC128772314, LOC128772315, LOC128772316, LOC128772317, LOC128772318, LOC128772319, LOC128772320, LOC128772321, LOC128772322, LOC128772323, LOC128772324, LOC128772325, LOC128772326, LOC128781589, LOC128781590, LOC221946, LOC285889, LOC349160, LOC389602, LOC401312, LOC401324, LOC401357, LOC442497, LOC646762, LOC728743, LOC730234, LOC730338, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSM8, LSMEM1, LUARIS, LUC7L2, LUZP6, MACC1, MACC1-AS1, MAD1L1, MAFK, MAGI2, MAGI2-AS2, MAGI2-AS3, MALSU1, MATCAP2, 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, MIR3147HG, MIR335, MIR339, MIR3609, MIR3654, MIR3666, MIR3683, MIR3907, MIR3914-1, MIR3914-2, MIR3943, MIR4283-1, MIR4283-2, MIR4284, MIR4285, MIR4467, MIR4468, MIR4648, MIR4649, MIR4650-1, MIR4650-2, MIR4651, MIR4652, MIR4653, MIR4655, MIR4656, MIR4657, MIR4658, MIR489, MIR490, MIR5090, MIR548F4, MIR548N, MIR548O, MIR550A1, MIR550A2, MIR550A3, MIR550B1, MIR550B2, MIR5692A1, MIR5692C2, MIR5707, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR653, MIR671, MIR6836, MIR6837, MIR6838, MIR6839, MIR6840, MIR6874, MIR6875, MIR6892, MIR93, MIR96, MKLN1, MKLN1-AS, MKRN1, MLXIPL, MMD2, MNX1, MNX1-AS1, MNX1-AS2, MOGAT3, MOSPD3, MPLKIP, MRM2, MRPL32, MRPS17, MRPS24, MRPS33, MTERF1, MTPN, MTRNR2L6, MTURN, MUC12, MUC12-AS1, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCAPG2, NCF1, NDUFA4, NDUFA5, NDUFB2, NDUFB2-AS1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPSR1-AS1, NPTX2, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUB1, NUDCD3, NUDT1, NUP205, NUP42, NUPR2, NXPH1, NYAP1, OCM, OCM2, OGDH, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, ORAI2, ORC5, ORS8, OSBPL3, PALS2, PAPOLB, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PCLO, PCOLCE, PCOLCE-AS1, PDAP1, PDE1C, PDGFA, PDGFA-DT, PDIA4, PDK4, PEG10, PEX1, PGAM2, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PILRB, PIP, PKD1L1, PKD1L1-AS1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PMS2, PNPLA8, PODXL, POLD2, POLM, POLR1F, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POT1, POT1-AS1, POU6F2, POU6F2-AS1, POU6F2-AS2, PPIA, PPP1R17, PPP1R35, PPP1R35-AS1, PPP1R3A, PPP1R9A, PPP1R9A-AS1, PRKAG2, PRKAG2-AS1, PRKAG2-AS2, PRKAR1B, PRKAR1B-AS1, PRKAR1B-AS2
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
2.
GRCh37:
Chr7:97049164-158716453
GRCh38:
Chr7:97419852-158923762
LOC110366355, LOC110599567, LOC110599591, LOC110599592, LOC110973015, LOC111089942, LOC111365160, LOC111365177, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC111776221, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113748420, LOC114004406, LOC114004407, LOC114255744, LOC116183093, LOC116183094, LOC116183095, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC120807605, LOC121175351, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740692, LOC121740693, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC123956184, LOC123956185, LOC123956186, LOC123956187, LOC123956188, LOC123956189, LOC123956190, LOC123956191, LOC123956192, LOC123956193, LOC123956194, LOC123956195, LOC123956196, LOC123956197, LOC123956198, LOC123956199, LOC123956200, LOC123956201, LOC123956202, LOC123956203, LOC123956204, LOC123956205, LOC123956206, LOC123956207, LOC123956208, LOC123956209, LOC123956210, LOC123956211, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC123956219, LOC123956220, LOC123956221, LOC123956222, LOC123956223, LOC123956224, LOC123956225, LOC123956226, LOC123956227, LOC123956228, LOC123956229, LOC123956230, LOC123956231, LOC123956232, LOC123956233, LOC123956234, LOC123956235, LOC123956236, LOC123956237, LOC123956238, LOC123956239, LOC123956240, LOC123956241, LOC123956242, LOC123956243, LOC123956244, LOC123956245, LOC123956246, LOC123956247, LOC123956248, LOC123956249, LOC123956250, LOC123956253, LOC123956254, LOC123956255, LOC123956257, LOC123956258, LOC123956259, LOC123956260, LOC123956261, LOC123956262, LOC123956263, LOC123956264, LOC123956265, LOC123956266, LOC123956267, LOC123956268, LOC123956269, LOC123956270, LOC123956271, LOC123956272, LOC123956273, LOC123956274, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC126860118, LOC126860119, LOC126860120, LOC126860121, LOC126860122, LOC126860123, LOC126860124, LOC126860125, LOC126860126, LOC126860127, LOC126860128, LOC126860129, LOC126860130, LOC126860131, LOC126860132, LOC126860133, LOC126860134, LOC126860135, LOC126860136, LOC126860137, LOC126860138, LOC126860139, LOC126860140, LOC126860141, LOC126860142, LOC126860143, LOC126860144, LOC126860145, LOC126860146, LOC126860147, LOC126860148, LOC126860149, LOC126860150, LOC126860151, LOC126860152, LOC126860153, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC126860169, LOC126860170, LOC126860171, LOC126860172, LOC126860173, LOC126860174, LOC126860175, LOC126860176, LOC126860177, LOC126860178, LOC126860179, LOC126860180, LOC126860181, LOC126860182, LOC126860183, LOC126860184, LOC126860185, LOC126860186, LOC126860187, LOC126860188, LOC126860189, LOC126860190, LOC126860191, LOC126860192, LOC126860193, LOC126860194, LOC126860195, LOC126860196, LOC126860197, LOC126860198, LOC126860199, LOC126860200, LOC126860201, LOC126860202, LOC126860203, LOC126860204, LOC126860205, LOC126860206, LOC126860207, LOC126860208, LOC126860209, LOC126860210, LOC126860211, LOC126860212, LOC126860213, LOC126860214, LOC126860215, LOC126860216, LOC126860217, LOC126860218, LOC126860219, LOC126860220, LOC126860221, LOC126860222, LOC126860223, LOC126860224, LOC126860225, LOC126860226, LOC126860227, LOC126860228, LOC126860229, LOC126860230, LOC126860231, LOC126860232, LOC126860233, LOC126860234, LOC126860235, LOC126860236, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC128031837, LOC128092247, LOC128772312, LOC128772313, LOC128772314, LOC128772315, LOC128772316, LOC128772317, LOC128772318, LOC128772319, LOC128772320, LOC128772321, LOC128772322, LOC128772323, LOC128772324, LOC128772325, LOC128772326, LOC128781589, LOC128781590, LOC285889, LOC349160, LOC389602, LOC728743, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRN3, LRWD1, LSM8, LSMEM1, LUC7L2, LUZP6, MBLAC1, MCM7, MDFIC, MEPCE, MEST, MESTIT1, MET, METTL2B, MGAM, MGAM2, MGC27345, MIR10399, MIR106B, MIR11400, MIR12119, MIR129-1, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR335, MIR3609, MIR3654, MIR3666, MIR3907, MIR4285, MIR4467, MIR4468, MIR4653, MIR4658, MIR490, MIR5090, MIR548F4, MIR548O, MIR5692A1, MIR5692C2, MIR5707, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR671, MIR6840, MIR6875, MIR6892, MIR93, MIR96, MKLN1, MKLN1-AS, MKRN1, MNX1, MNX1-AS1, MNX1-AS2, MOGAT3, MOSPD3, MRPS33, MTPN, MTRNR2L6, MUC12, MUC12-AS1, MUC17, MUC3A, MYL10, NAMPT, NAPEPLD, NAT16, NCAPG2, NDUFA5, NDUFB2, NDUFB2-AS1, NFE4, NOBOX, NOM1, NOS3, NPTX2, NRCAM, NRF1, NUB1, NUP205, NYAP1, AASS, ABCB8, ABCF2, ABCF2-H2BK1, ACHE, ACTL6B, ACTR3B, ACTR3C, ADCK2, AGAP3, AGBL3, AGFG2, AGK, AGK-DT, AHCYL2, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, ANKRD7, AOC1, AP1S1, AP4M1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB15-AS1, ASIC3, ASNS, ASZ1, ATG9B, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, ATXN7L1, AZGP1, BAIAP2L1, BCAP29, BHLHA15, BLACE, BMT2, BPGM, BRAF, BRI3, BUD31, C7orf33, CADPS2, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CBLL1, CBLL1-AS1, CCDC136, CCDC71L, CDHR3, CDK5, CEP41, CFTR, CFTR-AS1, CHCHD3, CHPF2, CHRM2, CLCN1, CLDN15, CLEC2L, CLEC5A, CNOT4, CNPY1, CNPY4, CNTNAP2, CNTNAP2-AS1, COG5, COL26A1, COMETT, COPG2, COPG2IT1, COPS6, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CREB3L2, CREB3L2-AS1, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CUX1, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYREN, CZ1P-ASNS, DENND11, DENND2A, DGKI, DLD, DNAJB6, DNAJB9, DNAJC2, DOCK4, DOCK4-AS1, DPP6, DUS4L, DUS4L-BCAP29, DYNC2I1, EFCAB10, EFCAB10-AS1, EMSLR, EN2, EPHA1, EPHA1-AS1, EPHB4, EPHB6, EPO, ESYT2, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM131B-AS2, FAM180A, FAM185A, FAM200A, FAM3C, FASTK, FBXL13, FBXO24, FEZF1, FEZF1-AS1, FIS1, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FOXP2, FSCN3, GAL3ST4, GALNT11, GALNTL5, GARIN1A, GARIN1B, GBX1, GCC1, GHET1, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GJC3, GNB2, GPC2, GPR22, GPR37, GPR85, GRM8, GRM8-AS1, GSTK1, H2BK1, HBP1, HERV.E-PTN, HILPDA, HIPK2, HRAT17, HTR5A, HTR5A-AS1, HYAL4, IFRD1, IFT22, IFT56, IMMP2L, IMPDH1, ING3, INSIG1, INSIG1-DT, IQCA1L, IQUB, IRF5, KCND2, KCNH2, KCP, KDM7A, KDM7A-DT, KEL, KIAA1549, KLF14, KLHDC10, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, LAMB1, LAMB4, LAMTOR4, LEP, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LINC-PINT, LINC00244, LINC00513, LINC00996, LINC01000, LINC01003, LINC01004, LINC01007, LINC01022, LINC01287, LINC01392, LINC01393, LINC02476, LINC02577, LINC02830, LINC02903, LINC03008, LINC03010, LINC03012, LINC03043, LINC03060, LINC03076, LLCFC1, LMBR1, LMOD2, LMTK2, LNCPRESS1, LOC100129148, LOC100134040, LOC100506937, LOC100630923, LOC101927550, LOC101927914, LOC101928012, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102724187, LOC102724434, LOC105375423, LOC105375429, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106049962, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108281155, LOC108491823, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121044, LOC110121049, LOC110121094, LOC110121207, LOC110121210, LOC110121252, LOC110121253, LOC110121254, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110366354, OCM2, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, ORAI2, ORC5, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PCOLCE, PCOLCE-AS1, PDAP1, PDIA4, PIK3CG, PILRA, PILRB, PIP, PLOD3, PLXNA4, PMPCB, PNPLA8, PODXL, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, POP7, POT1, POT1-AS1, PPP1R35, PPP1R35-AS1, PPP1R3A, PRKAG2, PRKAG2-AS1, PRKAG2-AS2, PRKAR2B, PRKAR2B-AS1, PRKRIP1, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PSMC2, PTCD1, PTN, PTPRN2, PTPRN2-AS1, PTPRZ1, PUS7, PVRIG, RAB19, RARRES2, RASA4, RASA4B, RBM28, RBM33, RBM33-DT, RELN, REPIN1, REPIN1-AS1, RHEB, RINT1, RNF133, RNF148, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, SAP25, SBE2, SCARNA28, SERPINE1, SH2B2, SHH, SLC12A9, SLC12A9-AS1, SLC13A1, SLC13A4, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMIM30, SMKR1, SMO, SMURF1, SND1, SND1-DT, SND1-IT1, SNORA25B, SPACDR, SPAM1, SPDYE2, SPDYE2B, SPDYE3, SPDYE6, SRPK2, SRRT, SSBP1, SSMEM1, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L5P-PVRIG2P-PILRB, STMP1, STRA8, STRIP2, SVOPL, SYPL1, TAC1, TAF6, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TECPR1, TES, TFEC, TFR2, THAP5, TMEM130, TMEM139, TMEM139-AS1, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM209, TMEM213, TMEM225B, TMEM229A, TMUB1, TNPO3, TPK1, TRAPPC14, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRIM24, TRIM4, TRIM56, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, TSC22D4-C7ORF61, TSGA13, TSPAN12, TSPAN33, UBE2H, UBE2H-DT, UBE3C, UBN2, UFSP1, UPK3BL1, UPK3BL2, VGF, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WNT16, WNT2, XRCC2, ZAN, ZASP, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZKSCAN1, ZKSCAN5, ZNF212, ZNF277, ZNF282, ZNF3, ZNF394, ZNF398, ZNF425, ZNF467, ZNF655, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF862, ZNHIT1, ZRS, ZSCAN21, ZSCAN25, ZYX
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
3.
GRCh37:
Chr7:101912320-120918695
GRCh38:
Chr7:102196924-121278641
ALKBH4, ANKRD7, ARMC10, ASZ1, ATXN7L1, BCAP29, BMT2, CAPZA2, CAV1, CAV2, CBLL1, CBLL1-AS1, CCDC71L, CDHR3, CFTR, CFTR-AS1, COG5, COMETT, CPED1, CTTNBP2, CUX1, DLD, DNAJB9, DNAJC2, DOCK4, DOCK4-AS1, DUS4L, DUS4L-BCAP29, EFCAB10, EFCAB10-AS1, FAM185A, FBXL13, FOXP2, GPR22, GPR85, HBP1, HRAT17, IFRD1, IMMP2L, ING3, KCND2, KMT2E, KMT2E-AS1, LAMB1, LAMB4, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LINC01004, LINC01392, LINC01393, LINC02476, LINC02577, LINC02903, LINC03076, LOC100630923, LOC101928012, LOC102724187, LOC102724434, LOC108491823, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121207, LOC110121252, LOC110121254, LOC111365177, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC114004406, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121740693, LOC121740694, LOC121740695, LOC123956197, LOC123956198, LOC123956199, LOC123956200, LOC123956201, LOC123956202, LOC123956203, LOC123956204, LOC123956205, LOC123956206, LOC123956207, LOC123956208, LOC123956209, LOC123956210, LOC123956211, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC126860127, LOC126860128, LOC126860129, LOC126860130, LOC126860131, LOC126860132, LOC126860133, LOC126860134, LOC126860135, LOC126860136, LOC126860137, LOC126860138, LOC126860139, LOC126860140, LOC126860141, LOC126860142, LOC126860143, LOC126860144, LOC126860145, LOC126860146, LOC126860147, LOC126860148, LOC126860149, LOC126860150, LOC126860151, LOC126860152, LOC126860153, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC128031837, LRRC17, LRRN3, LRWD1, LSM8, LSMEM1, MDFIC, MET, MIR3666, MIR4285, MIR4467, MIR5090, MIR548O, MIR6132, NAMPT, NAPEPLD, NFE4, NRCAM, ORAI2, ORC5, PIK3CG, PMPCB, PNPLA8, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, PPP1R3A, PRKAR2B, PRKAR2B-AS1, PRKRIP1, PSMC2, PUS7, RASA4, RASA4B, RELN, RINT1, SH2B2, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SMIM30, SNORA25B, SPDYE2, SPDYE2B, SPDYE6, SRPK2, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, SYPL1, TES, TFEC, THAP5, TMEM168, TSPAN12, UPK3BL1, UPK3BL2, WNT2, ZNF277
See casesPathogenic
(May 19, 2011)
no assertion criteria provided
4.
GRCh37:
Chr7:113439890-124539272
GRCh38:
Chr7:113799835-124899218
AASS, ANKRD7, ASB15, ASB15-AS1, ASZ1, CADPS2, CAPZA2, CAV1, CAV2, CFTR, CFTR-AS1, COMETT, CPED1, CTTNBP2, FAM3C, FEZF1, FEZF1-AS1, FOXP2, GPR37, HYAL4, ING3, IQUB, KCND2, LINC01392, LINC01393, LINC02476, LINC03043, LMOD2, LOC101928211, LOC102724434, LOC105375483, LOC108491823, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121207, LOC110121210, LOC110121252, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC113687191, LOC113687192, LOC116186911, LOC121175361, LOC121175362, LOC121740694, LOC121740695, LOC121740696, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC128772312, LOC128772313, LSM8, MDFIC, MET, MIR3666, MIR6132, NDUFA5, POT1, PPP1R3A, PTPRZ1, RNF133, RNF148, SLC13A1, SNORA25B, SPAM1, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, TAS2R16, TES, TFEC, TMEM229A, TSPAN12, WASL, WASL-DT, WNT16, WNT2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr7:113782532-125480435
GRCh38:
Chr7:114142477-125840381
AASS, ANKRD7, ASB15, ASB15-AS1, ASZ1, CADPS2, CAPZA2, CAV1, CAV2, CFTR, CFTR-AS1, COMETT, CPED1, CTTNBP2, FAM3C, FEZF1, FEZF1-AS1, FOXP2, GPR37, HYAL4, ING3, IQUB, KCND2, LINC01392, LINC01393, LINC02476, LINC02830, LINC03043, LMOD2, LOC101928211, LOC101928254, LOC101928283, LOC102724434, LOC105375483, LOC108491823, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121207, LOC110121210, LOC110121252, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC116186911, LOC121175361, LOC121175362, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC128772312, LOC128772313, LOC128772314, LSM8, MDFIC, MET, MIR3666, MIR6132, NDUFA5, POT1, POT1-AS1, PTPRZ1, RNF133, RNF148, SLC13A1, SNORA25B, SPAM1, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, TAS2R16, TES, TFEC, TMEM229A, TSPAN12, WASL, WASL-DT, WNT16, WNT2
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr7:114538937-117430177
GRCh38:
Chr7:114898882-117790123
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
7.
GRCh37:
Chr7:115099069-159118507
GRCh38:
Chr7:115459015-159325817
LOC126860191, LOC126860192, LOC126860193, LOC126860194, LOC126860195, LOC126860196, LOC126860197, LOC126860198, LOC126860199, LOC126860200, LOC126860201, LOC126860202, LOC126860203, LOC126860204, LOC126860205, LOC126860206, LOC126860207, LOC126860208, LOC126860209, LOC126860210, LOC126860211, LOC126860212, LOC126860213, LOC126860214, LOC126860215, LOC126860216, LOC126860217, LOC126860218, LOC126860219, LOC126860220, LOC126860221, LOC126860222, LOC126860223, LOC126860224, LOC126860225, LOC126860226, LOC126860227, LOC126860228, LOC126860229, LOC126860230, LOC126860231, LOC126860232, LOC126860233, LOC126860234, LOC126860235, LOC126860236, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC126860263, LOC126860264, LOC126860265, LOC128092247, LOC128772312, LOC128772313, LOC128772314, LOC128772315, LOC128772316, LOC128772317, LOC128772318, LOC128772319, LOC128772320, LOC128772321, LOC128772322, LOC128772323, LOC128772324, LOC128772325, LOC128772326, LOC128781589, LOC128781590, LOC285889, LOC349160, LOC389602, LOC728743, LRGUK, LRRC4, LRRC61, LSM8, LUC7L2, LUZP6, MEST, MESTIT1, MET, METTL2B, MGAM, MGAM2, MGC27345, MIR10399, MIR11400, MIR129-1, MIR153-2, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR3654, MIR3907, MIR4468, MIR490, MIR548F4, MIR5707, MIR592, MIR593, MIR595, MIR6132, MIR6133, MIR6509, MIR671, MIR6892, MIR96, MKLN1, MKLN1-AS, MKRN1, MNX1, MNX1-AS1, MNX1-AS2, MRPS33, MTPN, MTRNR2L6, NCAPG2, NDUFA5, NDUFB2, NDUFB2-AS1, NOBOX, NOM1, NOS3, NRF1, NUB1, NUP205, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PDIA4, PIP, PLXNA4, PODXL, POT1, POT1-AS1, PRKAG2, PRKAG2-AS1, PRKAG2-AS2, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PTN, PTPRN2, PTPRN2-AS1, PTPRZ1, RAB19, RARRES2, RBM28, RBM33, RBM33-DT, REPIN1, REPIN1-AS1, RHEB, RNF133, RNF148, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, SBE2, SHH, SLC13A1, SLC13A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMKR1, SMO, SND1, SND1-DT, SND1-IT1, SNORA25B, SPAM1, SSBP1, SSMEM1, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STMP1, STRA8, STRIP2, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TBXAS1, TCAF1, TCAF2, TES, TFEC, TMEM139, TMEM139-AS1, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM209, TMEM213, TMEM229A, TMUB1, TNPO3, TPK1, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRIM24, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRS-AGA5-1, TSGA13, TSPAN12, TSPAN33, UBE2H, UBE2H-DT, UBE3C, UBN2, VIPR2, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WNT16, WNT2, XRCC2, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZNF212, ZNF282, ZNF398, ZNF425, ZNF467, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF800, ZNF862, ZRS, ZYX, AASS, ABCB8, ABCF2, ABCF2-H2BK1, ACTR3B, ACTR3C, ADCK2, AGAP3, AGBL3, AGK, AGK-DT, AHCYL2, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ANKRD7, AOC1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ASB10, ASB15, ASB15-AS1, ASIC3, ASZ1, ATG9B, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATP6V1FNB, BLACE, BPGM, BRAF, C7orf33, CADPS2, CALD1, CALU, CAPZA2, CASP2, CAV1, CAV2, CCDC136, CDK5, CEP41, CFTR, CFTR-AS1, CHCHD3, CHPF2, CHRM2, CLCN1, CLEC2L, CLEC5A, CNOT4, CNPY1, CNTNAP2, CNTNAP2-AS1, COMETT, COPG2, COPG2IT1, CPA1, CPA2, CPA4, CPA5, CPED1, CREB3L2, CREB3L2-AS1, CRYGN, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTTNBP2, CUL1, CYREN, DENND11, DENND2A, DGKI, DNAJB6, DPP6, DYNC2I1, EN2, EPHA1, EPHA1-AS1, EPHB6, ESYT2, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM131B-AS2, FAM180A, FAM3C, FASTK, FEZF1, FEZF1-AS1, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FSCN3, GALNT11, GALNTL5, GARIN1A, GARIN1B, GBX1, GCC1, GHET1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GPR37, GRM8, GRM8-AS1, GSTK1, H2BK1, HERV.E-PTN, HILPDA, HIPK2, HTR5A, HTR5A-AS1, HYAL4, IFT56, IMPDH1, ING3, INSIG1, INSIG1-DT, IQCA1L, IQUB, IRF5, KCND2, KCNH2, KCP, KDM7A, KDM7A-DT, KEL, KIAA1549, KLF14, KLHDC10, KLRG2, KMT2C, KRBA1, LEP, LINC-PINT, LINC00244, LINC00513, LINC00689, LINC00996, LINC01000, LINC01003, LINC01022, LINC01287, LINC02476, LINC02830, LINC03008, LINC03010, LINC03012, LINC03043, LINC03060, LLCFC1, LMBR1, LMOD2, LOC100129148, LOC100134040, LOC100506937, LOC101927914, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC101929998, LOC102724434, LOC105375483, LOC105375504, LOC105375512, LOC105375556, LOC106049962, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108254663, LOC108281155, LOC108491823, LOC110121044, LOC110121049, LOC110121094, LOC110121203, LOC110121207, LOC110121210, LOC110121252, LOC110121253, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110599567, LOC110973015, LOC111089942, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743971, LOC114004407, LOC114255744, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC123956219, LOC123956220, LOC123956221, LOC123956222, LOC123956223, LOC123956224, LOC123956225, LOC123956226, LOC123956227, LOC123956228, LOC123956229, LOC123956230, LOC123956231, LOC123956232, LOC123956233, LOC123956234, LOC123956235, LOC123956236, LOC123956237, LOC123956238, LOC123956239, LOC123956240, LOC123956241, LOC123956242, LOC123956243, LOC123956244, LOC123956245, LOC123956246, LOC123956247, LOC123956248, LOC123956249, LOC123956250, LOC123956253, LOC123956254, LOC123956255, LOC123956257, LOC123956258, LOC123956259, LOC123956260, LOC123956261, LOC123956262, LOC123956263, LOC123956264, LOC123956265, LOC123956266, LOC123956267, LOC123956268, LOC123956269, LOC123956270, LOC123956271, LOC123956272, LOC123956273, LOC123956274, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC123956285, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC126860169, LOC126860170, LOC126860171, LOC126860172, LOC126860173, LOC126860174, LOC126860175, LOC126860176, LOC126860177, LOC126860178, LOC126860179, LOC126860180, LOC126860181, LOC126860182, LOC126860183, LOC126860184, LOC126860185, LOC126860186, LOC126860187, LOC126860188, LOC126860189, LOC126860190
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
8.
GRCh37:
Chr7:116339129-117144427
GRCh38:
Chr7:116699075-117504373
Papillary renal cell carcinoma type 1Uncertain significance
(Apr 11, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr7:116966859-134475440
GRCh38:
Chr7:117326805-134790689
WASL, WASL-DT, WNT16, ZC3HC1, ZNF800, AASS, AHCYL2, AKR1B1, AKR1B10, AKR1B15, ANKRD7, ARF5, ASB15, ASB15-AS1, ASZ1, ATP6V1F, ATP6V1FNB, BPGM, CADPS2, CALD1, CALU, CCDC136, CEP41, CFTR, CFTR-AS1, CHCHD3, COPG2, COPG2IT1, CPA1, CPA2, CPA4, CPA5, CPED1, CTTNBP2, EXOC4, FAM3C, FEZF1, FEZF1-AS1, FLJ40288, FLNC, FLNC-AS1, FSCN3, GARIN1A, GARIN1B, GCC1, GPR37, GRM8, GRM8-AS1, HILPDA, HYAL4, IMPDH1, ING3, IQUB, IRF5, KCND2, KCP, KLF14, KLHDC10, LEP, LINC-PINT, LINC00513, LINC01000, LINC02476, LINC02830, LINC03008, LINC03012, LINC03043, LINC03060, LMOD2, LOC100506937, LOC101928211, LOC101928254, LOC101928283, LOC101928782, LOC101928807, LOC101928861, LOC105375483, LOC105375504, LOC105375512, LOC106728418, LOC107980434, LOC107986845, LOC108251801, LOC108281155, LOC108491823, LOC110121049, LOC110121210, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC116186912, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC123956216, LOC123956217, LOC123956218, LOC123956219, LOC123956220, LOC123956221, LOC123956222, LOC123956223, LOC123956224, LOC123956225, LOC123956226, LOC123956227, LOC123956228, LOC123956229, LOC123956230, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC126860169, LOC126860170, LOC126860171, LOC126860172, LOC126860173, LOC126860174, LOC126860175, LOC126860176, LOC126860177, LOC126860178, LOC126860179, LOC126860180, LOC126860181, LOC126860182, LOC126860183, LOC126860184, LOC126860185, LOC126860186, LOC126860187, LOC126860188, LOC128772312, LOC128772313, LOC128772314, LOC128772315, LOC128772316, LOC128772317, LOC128772318, LOC128772319, LOC128772320, LOC128772321, LOC128772322, LOC128772323, LOC128772324, LOC128772325, LOC128772326, LOC128781589, LOC128781590, LRGUK, LRRC4, LSM8, MEST, MESTIT1, METTL2B, MGC27345, MIR129-1, MIR182, MIR183, MIR29A, MIR29B1, MIR335, MIR3654, MIR592, MIR593, MIR6133, MIR96, MKLN1, MKLN1-AS, NDUFA5, NRF1, OPN1SW, PAX4, PLXNA4, PODXL, POT1, POT1-AS1, PRRT4, PTPRZ1, RBM28, RNF133, RNF148, SLC13A1, SLC35B4, SMKR1, SMO, SND1, SND1-DT, SND1-IT1, SPAM1, SSMEM1, SSU72L6, STRIP2, TAS2R16, TMEM209, TMEM229A, TNPO3, TRP-AGG2-3, TSGA13, TSPAN12, TSPAN33, UBE2H, UBE2H-DT
See casesPathogenic
(Mar 12, 2012)
no assertion criteria provided
10.
GRCh37:
Chr7:117118841
GRCh38:
Chr7:117478787
CFTR, LOC111674463not providedUncertain significance
(Jan 11, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr7:117119105-117119106
GRCh38:
Chr7:117479051-117479052
CFTR, LOC111674463Cystic fibrosis, Hereditary pancreatitisConflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr7:117119183
GRCh38:
Chr7:117479129
CFTR, LOC111674463Cystic fibrosisBenign
(Jul 17, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr7:117119210
GRCh38:
Chr7:117479156
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Sep 4, 2020)
no assertion criteria provided
14.
GRCh37:
Chr7:117119254-117119256
GRCh38:
Chr7:117479200-117479202
LOC111674463, CFTRCystic fibrosisUncertain significance
(Mar 21, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr7:117119259-117119261
GRCh38:
Chr7:117479205-117479207
CFTR, LOC111674463Cystic fibrosisLikely benign
(Oct 14, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr7:117119262
GRCh38:
Chr7:117479208
LOC111674463, CFTRBronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:117119280
GRCh38:
Chr7:117479226
CFTR, LOC111674463Cystic fibrosisBenign
(Oct 21, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr7:117119312
GRCh38:
Chr7:117479258
CFTR, LOC111674463Cystic fibrosisUncertain significance
(May 24, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr7:117119321
GRCh38:
Chr7:117479267
CFTR, LOC111674463not providedUncertain significance
(Nov 12, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr7:117119337
GRCh38:
Chr7:117479283
LOC111674463, CFTRnot specified, not provided, Cystic fibrosis
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr7:117119475
GRCh38:
Chr7:117479421
LOC111674463, CFTRCystic fibrosisUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr7:117119547-117119548
GRCh38:
Chr7:117479493-117479494
LOC111674463, CFTRCystic fibrosisUncertain significance
(Mar 7, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr7:117119547
GRCh38:
Chr7:117479493
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:117119637
GRCh38:
Chr7:117479583
CFTR, LOC111674463Cystic fibrosisLikely benign
(Jan 20, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr7:117119638
GRCh38:
Chr7:117479584
CFTR, LOC111674463not providedUncertain significance
(Apr 22, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr7:117119642
GRCh38:
Chr7:117479588
CFTR, LOC111674463Cystic fibrosisLikely benign
(Feb 26, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr7:117119654
GRCh38:
Chr7:117479600
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Sep 28, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr7:117119688
GRCh38:
Chr7:117479634
CFTR, LOC111674463Cystic fibrosis, not provided, Hereditary pancreatitis
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr7:117119701
GRCh38:
Chr7:117479647
CFTR, LOC111674463not provided, Cystic fibrosis, not specified
Conflicting interpretations of pathogenicity
(Oct 29, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr7:117119710
GRCh38:
Chr7:117479656
LOC111674463, CFTRCystic fibrosisUncertain significance
(Aug 13, 2020)
no assertion criteria provided
31.
GRCh37:
Chr7:117119861
GRCh38:
Chr7:117479807
CFTR, LOC111674463not specified, not provided, Hereditary pancreatitis,
Cystic fibrosis
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr7:117119893
GRCh38:
Chr7:117479839
CFTR, LOC111674463not providedUncertain significance
(Aug 15, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr7:117119915
GRCh38:
Chr7:117479861
CFTR, LOC111674463Cystic fibrosisLikely benign
(Sep 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr7:117119917
GRCh38:
Chr7:117479863
CFTR, LOC111674463Cystic fibrosisLikely benign
(Apr 15, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr7:117119923
GRCh38:
Chr7:117479869
LOC111674463, CFTRnot provided, Cystic fibrosisConflicting interpretations of pathogenicity
(Nov 26, 2022)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr7:117119954
GRCh38:
Chr7:117479900
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr7:117119984
GRCh38:
Chr7:117479930
CFTR, LOC111674463Cystic fibrosis, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:117119997
GRCh38:
Chr7:117479943
LOC111674463, CFTRCystic fibrosis, not providedUncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr7:117120010
GRCh38:
Chr7:117479956
CFTR, LOC111674463CFTR-related disordersUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr7:117120047
GRCh38:
Chr7:117479993
CFTR, LOC111674463Cystic fibrosisPathogenic
(Mar 1, 1999)
no assertion criteria provided
41.
GRCh37:
Chr7:117120064
GRCh38:
Chr7:117480010
CFTR, LOC111674463Cystic fibrosisBenign
(Jan 29, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr7:117120115
GRCh38:
Chr7:117480061
CFTR, LOC111674463not specified, Cystic fibrosisConflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr7:117120133
GRCh38:
Chr7:117480079
CFTR, LOC111674463not providedLikely benign
(Jan 18, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr7:117120136
GRCh38:
Chr7:117480082
LOC111674463, CFTRCystic fibrosisUncertain significance
(May 15, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr7:117120136-117120158
GRCh38:
Chr7:117480082-117480104
CFTR, LOC111674463M1fsCystic fibrosisPathogenic
(Mar 17, 2017)
reviewed by expert panel
46.
GRCh37:
Chr7:117120138
GRCh38:
Chr7:117480084
CFTR, LOC111674463Cystic fibrosisLikely benign
(Nov 11, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr7:117120140
GRCh38:
Chr7:117480086
CFTR, LOC111674463not providedLikely benign
(Aug 5, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr7:117120140-117120141
GRCh38:
Chr7:117480086-117480087
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Jan 29, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr7:117120141
GRCh38:
Chr7:117480087
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr7:117120141
GRCh38:
Chr7:117480087
CFTR, LOC111674463CFTR-related disorders, not specified, not provided,
Hereditary pancreatitis, Cystic fibrosis
Benign/Likely benign
(Nov 28, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:117120142
GRCh38:
Chr7:117480088
LOC111674463, CFTRCystic fibrosisUncertain significance
(May 25, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr7:117120145
GRCh38:
Chr7:117480091
CFTR, LOC111674463not specified, not provided, Cystic fibrosis
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr7:117120147
GRCh38:
Chr7:117480093
CFTR, LOC111674463Cystic fibrosisUncertain significance
(Oct 7, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr7:117120149
GRCh38:
Chr7:117480095
CFTRM1VCystic fibrosisPathogenic
(Mar 17, 2017)
reviewed by expert panel
55.