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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr8:158048-146295771
GRCh38:
Chr8:208048-145070385
TRIM55, FUT10, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, FAM86B1, LRRCC1, TSPYL5, DNAJC5B, PSKH2, FAM110B, MED30, ERI1, ZNF251, KIFC2, TMEM67, LONRF1, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, CCDC26, ZNF572, GOT1L1, CIBAR1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, FER1L6-AS2, TMEM65, LINC00964, RDH10, BAALC-AS2, ANKRD46, ESCO2, FBXO16, MIR124-1HG, LRATD2, C8orf37, VPS13B, FAM87A, TDRP, ERICH1, SLC7A13, TMEM74, FAM91A1, C8orf48, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ZNF596, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, DEFB105A, DEFB106A, DEFB107A, DEFB130A, ATP6V0D2, NEIL2, YTHDF3, VXN, LOC254896, XKR6, NSMCE2, ZNF707, LINC02878, FAM83H, LOC286083, LINC01591, MICU3, ZNF252P-AS1, LINC02153, C8orf31, ZFP41, SCARA5, LINC02209, TRIQK, DPY19L4, FBXO43, LOC286177, LOC286178, NKAIN3, LINC01289, LINC01299, PPP1R42, C8orf34-AS1, LACTB2-AS1, GPIHBP1, LOC340357, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, LINC00965, PEG13, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, LOC401442, USP17L1, LOC401463, RBIS, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, SLURP2, FER1L6-AS1, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, PPDPFL, MIR383, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, NCRNA00250, LINC00251, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, C8orf49, DEFB135, DEFB136, DEFB134, ZNF704, ERICH1-AS1, LINC01298, LINC00589, MBOAT4, FAM85A, LINC00051, MIR486-1, TMEM75, DEFB109B, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, NKAIN3-IT1, RAD21-AS1, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, LINC00977, ZNF705D, OC90, LOC729732, LINC01300, MIR875, MIR937, MIR939, C8orf88, STAU2-AS1, FAM83H-AS1, RBPMS-AS1, FAM66B, LOC100128993, LOC100129098, LOC100129129, TCF24, LOC100130027, MIR124-2HG, LINC00861, LOC100130232, CCDC166, LOC100130298, C8orf89, LRRC69, LOC100130964, PRR23D1, FAM83A-AS1, ZNF705G, FAM66E, ZNF705B, LOC100132813, MSC-AS1, FAM66D, FAM66A, PRR23D2, DEFB130B, LY6E-DT, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, LOC100287846, LNCOC1, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, PTCSC1, LOC100310756, MIR548H4, NAT1, NAT2, ADCY8, ADRA1A, ADRB3, ANGPT1, ANGPT2, ANK1, ANXA13, ASAH1, ASPH, ATP6V1B2, ATP6V1C1, ADGRB1, BLK, BMP1, POLR3D, BNIP3L, OSGIN2, CA1, CA2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, CHRNA2, CHRNB3, CLU, COX6C, CRH, CTSB, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DEFA1, DEFA3, DEFA4, DEFA5, MIR4287, MIR548V, MIR3148, MIR4288, MIR3149, MIR3150A, MIR4286, MIR3151, BAALC-AS1, MIR3926-2, MIR3686, MIR3622A, MIR548AA1, MIR3926-1, MIR3622B, MIR3150B, MIR3674, MIR3610, LINC01602, LOC100505501, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, LOC100507516, MCPH1-AS1, LINC00968, LINC01606, C8orf44-SGK3, ZHX1-C8orf76, MIR4469, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4659A, MIR4660, MIR4659B, MIR4471, MIR4470, C8orf37-AS1, GS1-24F4.2, PCAT1, DEFA6, DEFB1, DEFB4A, DPYS, DPYSL2, DUSP4, E2F5, EEF1D, EGR3, EIF4EBP1, DMTN, EPHX2, CLN8, EXT1, EXTL3, EYA1, FABP4, FABP5, PTK2B, FDFT1, FGFR1, FGL1, FNTA, ADAM2, GATA4, GEM, GFRA2, GLI4, GML, GNRH1, NPBWR1, GPR20, GPT, GRINA, GSR, GTF2E2, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, MIR5680, MIR5692A2, MIR5194, MIR5708, MIR5681A, MIR548AO, MIR5681B, NRG1-IT1, LINC00536, FSBP, LZTS1-AS1, LINC00534, NRG1-IT3, CA3-AS1, IGLV8OR8-1, LINC00681, YTHDF3-AS1, CCAT2, CASC9, PRNCR1, LOC101926892, LOC101926908, RDH10-AS1, LINC01617, LINC01111, PKIA-AS1, LOC101927040, LOC101927066, LINC01607, LOC101927141, UBR5-AS1, LOC101927245, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, LOC101927657, LOC101927752, LINC00824, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, LOC101928058, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, KCNS2, LOXL2, LPL, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MSR1, MSRA, MYBL1, MYC, NBN, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LINC02099, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LINC02842, LOC101929709, LOC101929897, LINC01030, MIR6841, MIR6842, MIR6843, MIR6846, MIR6847, MIR6848, MIR6876, MIR7160, MIR486-2, MIR8055, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, LOC102467222, LOC102723313, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LINC01414, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, VPS13B-DT, LINC02844, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, TSTA3, TTPA, UBE2V2, COL14A1, UQCRB, VDAC3, WRN, YWHAZ, ZNF7, ZNF16, FZD3, TUSC3, UBXN8, KAT6A, PSCA, FZD6, NSMAF, LY6D, LINC02855, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02847, LOC105375843, CERNA3, LINC02839, LOC105377777, FAM85B, LOC105379331, LINC02866, LOC105379393, LINC00976, SNORA99, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LINC02055, LOC108004525, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, CRE3, LOC108353813, LOC108491824, LOC108863620, SNORD38D, SNORD65B, SNORD77B, SNORD3F, SNORD3I, SNORA1B, SNORD3H, SNORD168, SNORD173, SNORD149, LOC110120608, LOC110120654, LOC110120689, LOC110120721, LOC110120738, LOC110120748, LOC110120756, LOC110120766, RGS20, JRK, TNKS, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, ADAM7, RIPK2, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, GGH, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110120797, LOC110120800, LOC110120801, LOC110120802, LOC110121038, LOC110121048, LOC110121054, LOC110121059, LOC110121062, LOC110121079, LOC110121096, LOC110121100, LOC110121123, LOC110121155, LOC110121157, LOC110121179, LOC110121182, LOC110121186, LOC110121191, LOC110121192, LOC110121196, LOC110121208, LOC110121217, LOC110121218, LOC110121233, LOC110121280, LOC110121281, LOC110596866, LOC110599578, LOC110673971, LOC110673972, LINC02155, LOC111089944, LYNX1-SLURP2, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, SIRLNT, LINC02605, MIR9903, MIR10400, MIR12123, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, LOC113783876, LOC113783877, LOC113783878, LOC113783879, LOC113783880, LOC113783881, LOC113788244, LOC113788245, LOC113788246, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, LOC113788255, LOC113788256, LOC113788257, LOC113788258, LOC113788259, LOC113788260, LOC113788261, LOC113788262, LOC113788263, LOC113788264, LOC113788265, LOC113788266, LOC113788267, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788277, LOC113788278, LOC113788279, LOC113788280, LOC113788281, LOC113788282, LOC113788283, LOC113788284, LOC113788285, LOC113788286, LOC113788287, LOC113788288, LOC113788289, LOC113788290, LOC113788291, LOC113788292, LOC113788293, LOC113788294, LOC113788295, LOC113788296, LOC113788297, LOC113788298, LOC113788299, LOC114004409, LOC114004410, LOC114004411, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, LRRC6, LY96, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, VIRMA, LINC00588, RGS22, FBXL6, FBXO25, FGF20, RNU105C, SNORA72, SNORD54, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, ADAMDEC1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CNOT7, CPSF1, PURG, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, LOC114004412, LOC114004413, LOC114827823, LOC114827837, LOC114827840, ZNNT1, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, ZDHHC2, HGH1, KCNK9, SLC25A37, THEM6, UBR5, SCARA3, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, TRMT9B, ZFAT, CCAR2, ZNF250, PLEKHA2, SH2D4A, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, CSMD1, EBF2, FAM160B2, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, MTMR9, DUSP26, RHPN1-AS1, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, BIN3-IT1, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, CRISPLD1, TRAPPC9, TM2D2, TATDN1, NCALD, POMK, MAF1, UTP23, GINS4, HOOK3, PLPP5, MAK16
See casesPathogenic
(Aug 2, 2013)
no assertion criteria providedVCV000153413
2.
GRCh37:
Chr8:176452-146294098
GRCh38:
Chr8:226452-145068712
RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, BIN3-IT1, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, CRISPLD1, TRAPPC9, TM2D2, TATDN1, NCALD, POMK, MAF1, UTP23, GINS4, HOOK3, PLPP5, MAK16, TRIM55, FUT10, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, FAM86B1, LRRCC1, TSPYL5, DNAJC5B, PSKH2, FAM110B, MED30, ERI1, ZNF251, KIFC2, TMEM67, LONRF1, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, CCDC26, ZNF572, GOT1L1, CIBAR1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, FER1L6-AS2, TMEM65, LINC00964, RDH10, BAALC-AS2, ANKRD46, ESCO2, FBXO16, MIR124-1HG, LRATD2, C8orf37, VPS13B, FAM87A, TDRP, ERICH1, SLC7A13, TMEM74, FAM91A1, C8orf48, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ZNF596, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, DEFB105A, DEFB106A, DEFB107A, DEFB130A, ATP6V0D2, NEIL2, YTHDF3, VXN, LOC254896, XKR6, NSMCE2, ZNF707, LINC02878, FAM83H, LOC286083, LINC01591, MICU3, ZNF252P-AS1, LINC02153, C8orf31, ZFP41, SCARA5, LINC02209, TRIQK, DPY19L4, FBXO43, LOC286177, LOC286178, NKAIN3, LINC01289, LINC01299, PPP1R42, C8orf34-AS1, LACTB2-AS1, GPIHBP1, LOC340357, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, LINC00965, PEG13, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, LOC401442, USP17L1, LOC401463, RBIS, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, SLURP2, FER1L6-AS1, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, PPDPFL, MIR383, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, NCRNA00250, LINC00251, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, C8orf49, DEFB135, DEFB136, DEFB134, ZNF704, ERICH1-AS1, LINC01298, LINC00589, MBOAT4, FAM85A, LINC00051, MIR486-1, TMEM75, DEFB109B, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, NKAIN3-IT1, RAD21-AS1, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, LINC00977, ZNF705D, OC90, LOC729732, LINC01300, MIR875, MIR937, MIR939, C8orf88, STAU2-AS1, FAM83H-AS1, RBPMS-AS1, FAM66B, LOC100128993, LOC100129098, LOC100129129, TCF24, LOC100130027, MIR124-2HG, LINC00861, LOC100130232, CCDC166, LOC100130298, C8orf89, LRRC69, LOC100130964, PRR23D1, FAM83A-AS1, ZNF705G, FAM66E, ZNF705B, LOC100132813, MSC-AS1, FAM66D, FAM66A, PRR23D2, DEFB130B, LY6E-DT, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, LOC100287846, LNCOC1, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, PTCSC1, LOC100310756, MIR548H4, NAT1, NAT2, MIR4287, MIR548V, MIR3148, MIR4288, MIR3149, MIR3150A, MIR4286, MIR3151, ADCY8, ADRA1A, ADRB3, ANGPT1, ANGPT2, ANK1, ANXA13, BAALC-AS1, MIR3926-2, MIR3686, MIR3622A, MIR548AA1, MIR3926-1, MIR3622B, MIR3150B, ASAH1, ASPH, ATP6V1B2, ATP6V1C1, ADGRB1, BLK, MIR3674, MIR3610, LINC01602, LOC100505501, LINC01301, LINC00967, RRS1-AS1, BMP1, POLR3D, BNIP3L, OSGIN2, CA1, CA2, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, CHRNA2, CHRNB3, CLU, COX6C, CRH, CTSB, LOC100507516, MCPH1-AS1, LINC00968, LINC01606, C8orf44-SGK3, ZHX1-C8orf76, MIR4469, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DEFA1, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4659A, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, MIR4660, MIR4659B, MIR4471, MIR4470, C8orf37-AS1, GS1-24F4.2, PCAT1, DPYS, DPYSL2, DUSP4, E2F5, EEF1D, EGR3, MIR5680, MIR5692A2, MIR5194, MIR5708, MIR5681A, MIR548AO, MIR5681B, NRG1-IT1, EIF4EBP1, DMTN, EPHX2, CLN8, EXT1, EXTL3, EYA1, FABP4, FABP5, PTK2B, FDFT1, FGFR1, FGL1, FNTA, ADAM2, GATA4, GEM, GFRA2, GLI4, GML, GNRH1, NPBWR1, GPR20, GPT, GRINA, GSR, GTF2E2, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, KCNS2, LOXL2, LPL, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MSR1, MSRA, MYBL1, MYC, NBN, LINC00536, FSBP, LZTS1-AS1, LINC00534, NRG1-IT3, CA3-AS1, IGLV8OR8-1, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, CCN3, LINC00681, YTHDF3-AS1, CCAT2, CASC9, PRNCR1, LOC101926892, LOC101926908, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, RDH10-AS1, LINC01617, LINC01111, PKIA-AS1, LOC101927040, LOC101927066, LINC01607, LOC101927141, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, UBR5-AS1, LOC101927245, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, LOC101927657, LOC101927752, LINC00824, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, LOC101928058, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929066, LOC101929128, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LINC02099, LOC101929470, LOC101929488, LOC101929528, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, TSTA3, TTPA, UBE2V2, COL14A1, UQCRB, VDAC3, WRN, YWHAZ, ZNF7, ZNF16, FZD3, TUSC3, UBXN8, KAT6A, PSCA, FZD6, NSMAF, LY6D, RGS20, JRK, TNKS, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, ADAM7, LOC101929550, LOC101929622, LINC02842, LOC101929709, LOC101929897, LINC01030, MIR6841, MIR6842, MIR6843, MIR6846, MIR6847, MIR6848, MIR6876, MIR7160, MIR486-2, MIR8055, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, LOC102467222, LOC102723313, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LINC01414, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, VPS13B-DT, LINC02844, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, LINC02855, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02847, LOC105375843, CERNA3, RIPK2, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, GGH, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, LINC02839, LOC105377777, FAM85B, LOC105379331, LINC02866, LOC105379393, LINC00976, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, SNORA99, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LINC02055, LOC108004525, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, LOC108281171, LOC108281187, CRE3, LOC108353813, LOC108491824, LOC108863620, SNORD38D, SNORD65B, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, SNORD77B, SNORD3F, SNORD3I, SNORA1B, SNORD3H, SNORD168, SNORD173, SNORD149, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LOC110120608, LOC110120654, LOC110120689, LOC110120721, LOC110120738, LOC110120748, LOC110120756, LOC110120766, LEPROTL1, SCRIB, SPIDR, SLC39A14, LRRC6, LY96, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110120797, LOC110120800, LOC110120801, LOC110120802, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, VIRMA, LINC00588, RGS22, FBXL6, FBXO25, FGF20, RNU105C, SNORA72, SNORD54, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, ADAMDEC1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CNOT7, CPSF1, PURG, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, ZDHHC2, HGH1, LOC110121038, LOC110121048, LOC110121054, LOC110121059, LOC110121062, LOC110121079, LOC110121096, LOC110121100, LOC110121123, LOC110121155, LOC110121157, LOC110121179, LOC110121182, LOC110121186, LOC110121191, LOC110121192, LOC110121196, LOC110121208, LOC110121217, LOC110121218, LOC110121233, LOC110121280, LOC110121281, LOC110596866, LOC110599578, LOC110673971, LOC110673972, LINC02155, LOC111089944, LYNX1-SLURP2, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, SIRLNT, LINC02605, MIR9903, MIR10400, MIR12123, LOC113783876, LOC113783877, LOC113783878, LOC113783879, LOC113783880, LOC113783881, LOC113788244, LOC113788245, KCNK9, SLC25A37, THEM6, UBR5, SCARA3, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, LOC113788246, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, LOC113788255, LOC113788256, LOC113788257, LOC113788258, LOC113788259, LOC113788260, LOC113788261, LOC113788262, LOC113788263, LOC113788264, LOC113788265, LOC113788266, LOC113788267, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788277, LOC113788278, LOC113788279, LOC113788280, LOC113788281, LOC113788282, LOC113788283, LOC113788284, LOC113788285, LOC113788286, LOC113788287, LOC113788288, LOC113788289, LOC113788290, LOC113788291, LOC113788292, LOC113788293, LOC113788294, LOC113788295, LOC113788296, LOC113788297, LOC113788298, LOC113788299, LOC114004409, LOC114004410, LOC114004411, LOC114004412, LOC114004413, LOC114827823, LOC114827837, LOC114827840, ZNNT1, LOC116186920, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, TRMT9B, ZFAT, CCAR2, ZNF250, PLEKHA2, SH2D4A, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, CSMD1, EBF2, FAM160B2, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, MTMR9, DUSP26, RHPN1-AS1, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000154791
3.
GRCh37:
Chr8:176452-34349408
GRCh38:
Chr8:226452-34491890
CCDC25, AGPAT5, INTS9, CSGALNACT1, HR, PBK, ZNF395, DEFB103B, BIN3, TEX15, MTUS1, TRMT9B, CCAR2, SH2D4A, PDLIM2, CSMD1, EBF2, FAM160B2, MTMR9, DUSP26, HMBOX1, MCPH1, PPP1R3B, RNF122, NUDT18, DOCK5, BIN3-IT1, TTI2, REEP4, STMN4, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, MAK16, FUT10, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, CLDN23, VPS37A, NKX2-6, SGCZ, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, ESCO2, FBXO16, MIR124-1HG, FAM87A, TDRP, ERICH1, C8orf48, ZNF596, R3HCC1, PRSS55, C8orf74, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130A, NEIL2, LOC254896, XKR6, LOC286083, MICU3, LINC02153, SCARA5, LINC02209, LOC340357, PRSS51, LINC00965, USP17L2, XKR5, LOC389641, NUGGC, USP17L8, USP17L7, LOC401442, USP17L1, MIR124-1, MIR320A, DEFB103A, MIR383, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, C8orf49, DEFB135, DEFB136, DEFB134, ERICH1-AS1, LINC00589, MBOAT4, FAM85A, DEFB109B, USP17L4, USP17L3, FAM86B2, SPAG11A, SNORD13, MIR596, MIR597, MIR598, DEFA1B, ZNF705D, LOC729732, RBPMS-AS1, FAM66B, LOC100128993, LOC100129129, PRR23D1, ZNF705G, FAM66E, ZNF705B, FAM66D, FAM66A, PRR23D2, DEFB130B, LOC100287015, DEFB4B, MIR1322, MIR548I3, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR4286, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, MIR3674, LOC100506990, LOC100507071, LOC100507156, SMIM18, DLGAP2-AS1, MCPH1-AS1, MIR4659A, MIR4660, MIR4659B, GS1-24F4.2, MIR5692A2, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101927752, LOC101927815, LOC101928058, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929229, LOC101929237, LOC101929269, LOC101929294, LOC101929315, EXTL3-AS1, LINC02099, LOC101929470, MIR6841, MIR6842, MIR6843, MIR6876, MIR7160, MIR8055, LOC102467222, LOC102723313, LOC102725080, KBTBD11-OT1, LOC105377777, FAM85B, LOC105379331, SNORA99, LOC106783493, LOC107522030, LOC107986876, LOC108004525, LOC108254664, CRE3, SNORD3F, SNORD3I, LOC110120689, LOC110120768, LOC110120769, LOC110120770, LOC110121062, LOC110121192, LOC110121196, LOC110121233, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC111365225, LOC111465018, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788286, LOC113788289, LOC113788294, LOC114004413, LOC114827823, LOC114827837, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, NAT1, NAT2, ADRA1A, ANGPT2, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, CTSB, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYSL2, DUSP4, EGR3, DMTN, EPHX2, CLN8, EXTL3, PTK2B, FDFT1, FGL1, GATA4, GFRA2, GNRH1, GSR, GTF2E2, NRG1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STC1, WRN, FZD3, TUSC3, UBXN8, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, MTMR7, MYOM2, DLGAP2, MFHAS1, ENTPD4, ARHGEF10, PHYHIP, KBTBD11, SORBS3, NPM2, DLC1, SPAG11B, DCTN6, PNMA2, ADAM28, RBPMS, LZTS1, XPO7, TRIM35, RHOBTB2, KIF13B, PSD3, LEPROTL1, SLC39A14, FBXO25, FGF20, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, PINX1, PIWIL2, ELP3, INTS10
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152909
4.
GRCh37:
Chr8:176452-37879246
GRCh38:
Chr8:226452-38021728
NAT1, NAT2, ADRA1A, ADRB3, ANGPT2, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, CTSB, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYSL2, DUSP4, EGR3, DMTN, EPHX2, CLN8, EXTL3, PTK2B, FDFT1, FGL1, GATA4, GFRA2, GNRH1, GSR, GTF2E2, NRG1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STC1, WRN, FZD3, TUSC3, UBXN8, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, MTMR7, MYOM2, DLGAP2, MFHAS1, ENTPD4, ARHGEF10, PHYHIP, KBTBD11, SORBS3, NPM2, DLC1, SPAG11B, DCTN6, PNMA2, ADAM28, RBPMS, ERLIN2, LZTS1, PLPBP, XPO7, TRIM35, RHOBTB2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FBXO25, FGF20, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, PINX1, PIWIL2, ELP3, INTS10, CCDC25, BRF2, AGPAT5, INTS9, CSGALNACT1, HR, PBK, ZNF395, DEFB103B, BIN3, TEX15, MTUS1, TRMT9B, CCAR2, SH2D4A, PDLIM2, CSMD1, EBF2, FAM160B2, MTMR9, DUSP26, HMBOX1, MCPH1, PPP1R3B, RNF122, NUDT18, DOCK5, BIN3-IT1, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, MAK16, FUT10, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, CLDN23, GOT1L1, VPS37A, NKX2-6, SGCZ, UNC5D, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, ESCO2, FBXO16, MIR124-1HG, FAM87A, TDRP, ERICH1, C8orf48, KCNU1, ZNF596, R3HCC1, PRSS55, C8orf74, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130A, NEIL2, LOC254896, XKR6, LOC286083, MICU3, LINC02153, SCARA5, LINC02209, LOC340357, PRSS51, LINC00965, USP17L2, XKR5, LOC389641, NUGGC, USP17L8, USP17L7, LOC401442, USP17L1, MIR124-1, MIR320A, DEFB103A, MIR383, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, C8orf49, DEFB135, DEFB136, DEFB134, ERICH1-AS1, LINC00589, MBOAT4, FAM85A, DEFB109B, USP17L4, USP17L3, FAM86B2, SPAG11A, SNORD13, MIR596, MIR597, MIR598, DEFA1B, ZNF705D, LOC729732, RBPMS-AS1, FAM66B, LOC100128993, LOC100129129, PRR23D1, ZNF705G, FAM66E, ZNF705B, FAM66D, FAM66A, PRR23D2, DEFB130B, LOC100287015, DEFB4B, MIR1322, MIR548I3, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR4286, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, MIR3674, LOC100506990, LOC100507071, LOC100507156, SMIM18, LINC01605, DLGAP2-AS1, MCPH1-AS1, MIR4659A, MIR4660, MIR4659B, GS1-24F4.2, MIR5692A2, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101927752, LOC101927815, LOC101928058, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929229, LOC101929237, LOC101929269, LOC101929294, LOC101929315, EXTL3-AS1, LINC02099, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, MIR7160, MIR8055, LOC102467222, LOC102723313, LOC102723701, LOC102725080, LINC01288, KBTBD11-OT1, LOC105377777, FAM85B, LOC105379331, SNORA99, LOC106783493, LOC107522030, LOC107986876, LOC108004525, LOC108254664, LOC108281187, CRE3, SNORD3F, SNORD3I, LOC110120654, LOC110120689, LOC110120721, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110121062, LOC110121182, LOC110121192, LOC110121196, LOC110121233, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC111365225, LOC111465018, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788277, LOC113788286, LOC113788289, LOC113788294, LOC114004413, LOC114827823, LOC114827837, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926
See casesPathogenic
(Sep 30, 2011)
no assertion criteria providedVCV000148741
5.
GRCh37:
Chr8:191530-146280020
GRCh38:
Chr8:241530-145054634
LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, CRE3, LOC108353813, LOC108491824, LOC108863620, SNORD38D, SNORD65B, SNORD77B, SNORD3F, SNORD3I, SNORA1B, SNORD3H, SNORD168, SNORD173, SNORD149, LOC110120608, LOC110120654, LOC110120689, LOC110120721, LOC110120738, LOC110120748, LOC110120756, LOC110120766, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110120797, LOC110120800, LOC110120801, LOC110120802, LOC110121038, LOC110121048, LOC110121054, LOC110121059, LOC110121062, LOC110121079, LOC110121096, LOC110121100, LOC110121123, LOC110121155, LOC110121157, LOC110121179, LOC110121182, LOC110121186, LOC110121191, LOC110121192, LOC110121196, LOC110121208, LOC110121217, LOC110121218, LOC110121233, LOC110121280, LOC110121281, LOC110596866, LOC110599578, LOC110673971, LOC110673972, LINC02155, LOC111089944, LYNX1-SLURP2, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, SIRLNT, LINC02605, MIR9903, MIR10400, MIR12123, LOC113783876, LOC113783877, LOC113783878, LOC113783879, LOC113783880, LOC113783881, LOC113788244, LOC113788245, LOC113788246, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, LOC113788255, LOC113788256, LOC113788257, LOC113788258, LOC113788259, LOC113788260, LOC113788261, LOC113788262, LOC113788263, LOC113788264, LOC113788265, LOC113788266, LOC113788267, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788277, LOC113788278, LOC113788279, LOC113788280, LOC113788281, LOC113788282, LOC113788283, LOC113788284, LOC113788285, LOC113788286, LOC113788287, LOC113788288, LOC113788289, LOC113788290, LOC113788291, LOC113788292, LOC113788293, LOC113788294, LOC113788295, LOC113788296, LOC113788297, LOC113788298, LOC113788299, LOC114004409, LOC114004410, LOC114004411, LOC114004412, LOC114004413, LOC114827823, LOC114827837, LOC114827840, ZNNT1, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935, NAT1, NAT2, ADCY8, ADRA1A, ADRB3, ANGPT1, ANGPT2, ANK1, ANXA13, ASAH1, ASPH, ATP6V1B2, ATP6V1C1, ADGRB1, BLK, BMP1, POLR3D, BNIP3L, OSGIN2, CA1, CA2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, CHRNA2, CHRNB3, CLU, COX6C, CRH, CTSB, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYS, DPYSL2, DUSP4, E2F5, EEF1D, EGR3, EIF4EBP1, DMTN, EPHX2, CLN8, EXT1, EXTL3, EYA1, FABP4, FABP5, PTK2B, FDFT1, FGFR1, FGL1, FNTA, ADAM2, GATA4, GEM, GFRA2, GLI4, GML, GNRH1, NPBWR1, GPR20, GPT, GRINA, GSR, GTF2E2, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, KCNS2, LOXL2, LPL, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MSR1, MSRA, MYBL1, MYC, NBN, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, TSTA3, TTPA, UBE2V2, COL14A1, UQCRB, VDAC3, WRN, YWHAZ, ZNF7, ZNF16, FZD3, TUSC3, UBXN8, KAT6A, PSCA, FZD6, NSMAF, LY6D, RGS20, JRK, TNKS, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, ADAM7, RIPK2, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, GGH, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, LRRC6, LY96, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, VIRMA, LINC00588, RGS22, FBXL6, FBXO25, FGF20, RNU105C, SNORA72, SNORD54, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, ADAMDEC1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CNOT7, CPSF1, PURG, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, ZDHHC2, HGH1, KCNK9, SLC25A37, THEM6, UBR5, SCARA3, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, TRMT9B, ZFAT, CCAR2, ZNF250, PLEKHA2, SH2D4A, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, CSMD1, EBF2, FAM160B2, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, MTMR9, DUSP26, RHPN1-AS1, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, BIN3-IT1, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, CRISPLD1, TRAPPC9, TM2D2, TATDN1, NCALD, POMK, MAF1, UTP23, GINS4, HOOK3, PLPP5, MAK16, TRIM55, FUT10, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, FAM86B1, LRRCC1, TSPYL5, DNAJC5B, PSKH2, FAM110B, MED30, ERI1, ZNF251, KIFC2, TMEM67, LONRF1, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, CCDC26, ZNF572, GOT1L1, CIBAR1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, FER1L6-AS2, TMEM65, LINC00964, RDH10, BAALC-AS2, ANKRD46, ESCO2, FBXO16, MIR124-1HG, LRATD2, C8orf37, VPS13B, FAM87A, TDRP, ERICH1, SLC7A13, TMEM74, FAM91A1, C8orf48, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ZNF596, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, DEFB105A, DEFB106A, DEFB107A, DEFB130A, ATP6V0D2, NEIL2, YTHDF3, VXN, LOC254896, XKR6, NSMCE2, ZNF707, LINC02878, FAM83H, LOC286083, LINC01591, MICU3, ZNF252P-AS1, LINC02153, C8orf31, ZFP41, SCARA5, LINC02209, TRIQK, DPY19L4, FBXO43, LOC286177, LOC286178, NKAIN3, LINC01289, LINC01299, PPP1R42, C8orf34-AS1, LACTB2-AS1, GPIHBP1, LOC340357, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, LINC00965, PEG13, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, LOC401442, USP17L1, LOC401463, RBIS, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, SLURP2, FER1L6-AS1, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, PPDPFL, MIR383, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, NCRNA00250, LINC00251, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, C8orf49, DEFB135, DEFB136, DEFB134, ZNF704, ERICH1-AS1, LINC01298, LINC00589, MBOAT4, FAM85A, LINC00051, MIR486-1, TMEM75, DEFB109B, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, NKAIN3-IT1, RAD21-AS1, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, LINC00977, ZNF705D, OC90, LOC729732, LINC01300, MIR875, MIR937, MIR939, C8orf88, STAU2-AS1, FAM83H-AS1, RBPMS-AS1, FAM66B, LOC100128993, LOC100129098, LOC100129129, TCF24, LOC100130027, MIR124-2HG, LINC00861, LOC100130232, CCDC166, LOC100130298, C8orf89, LRRC69, LOC100130964, PRR23D1, FAM83A-AS1, ZNF705G, FAM66E, ZNF705B, LOC100132813, MSC-AS1, FAM66D, FAM66A, PRR23D2, DEFB130B, LY6E-DT, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, LOC100287846, LNCOC1, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, PTCSC1, LOC100310756, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3149, MIR3150A, MIR4286, MIR3151, BAALC-AS1, MIR3926-2, MIR3686, MIR3622A, MIR548AA1, MIR3926-1, MIR3622B, MIR3150B, MIR3674, MIR3610, LINC01602, LOC100505501, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, LOC100507516, MCPH1-AS1, LINC00968, LINC01606, C8orf44-SGK3, ZHX1-C8orf76, MIR4469, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4659A, MIR4660, MIR4659B, MIR4471, MIR4470, C8orf37-AS1, GS1-24F4.2, PCAT1, MIR5680, MIR5692A2, MIR5194, MIR5708, MIR5681A, MIR548AO, MIR5681B, NRG1-IT1, LINC00536, FSBP, LZTS1-AS1, LINC00534, NRG1-IT3, CA3-AS1, IGLV8OR8-1, LINC00681, YTHDF3-AS1, CCAT2, CASC9, PRNCR1, LOC101926892, LOC101926908, RDH10-AS1, LINC01617, LINC01111, PKIA-AS1, LOC101927040, LOC101927066, LINC01607, LOC101927141, UBR5-AS1, LOC101927245, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, LOC101927657, LOC101927752, LINC00824, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, LOC101928058, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LINC02099, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LINC02842, LOC101929709, LOC101929897, LINC01030, MIR6841, MIR6842, MIR6843, MIR6846, MIR6847, MIR6848, MIR6876, MIR7160, MIR486-2, MIR8055, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, LOC102467222, LOC102723313, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LINC01414, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, VPS13B-DT, LINC02844, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, LINC02855, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02847, LOC105375843, CERNA3, LINC02839, LOC105377777, FAM85B, LOC105379331, LINC02866, LOC105379393, LINC00976, SNORA99, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LINC02055, LOC108004525
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000059738
6.
GRCh37:
Chr8:191530-146274835
GRCh38:
Chr8:241530-145049449
LOC114004412, LOC114004413, LOC114827823, LOC114827837, LOC114827840, ZNNT1, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935, NAT1, NAT2, ADCY8, ADRA1A, ADRB3, ANGPT1, ANGPT2, ANK1, ANXA13, ASAH1, ASPH, ATP6V1B2, ATP6V1C1, ADGRB1, BLK, BMP1, POLR3D, BNIP3L, OSGIN2, CA1, CA2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, CHRNA2, CHRNB3, CLU, COX6C, CRH, CTSB, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYS, DPYSL2, DUSP4, E2F5, EEF1D, EGR3, EIF4EBP1, DMTN, EPHX2, CLN8, EXT1, EXTL3, EYA1, FABP4, FABP5, PTK2B, FDFT1, FGFR1, FGL1, FNTA, ADAM2, GATA4, GEM, GFRA2, GLI4, GML, GNRH1, NPBWR1, GPR20, GPT, GRINA, GSR, GTF2E2, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, KCNS2, LOXL2, LPL, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MSR1, MSRA, MYBL1, MYC, NBN, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, TSTA3, TTPA, UBE2V2, COL14A1, UQCRB, VDAC3, WRN, YWHAZ, ZNF7, ZNF16, FZD3, TUSC3, UBXN8, KAT6A, PSCA, FZD6, NSMAF, LY6D, RGS20, JRK, TNKS, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, ADAM7, RIPK2, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, GGH, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, LRRC6, LY96, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, VIRMA, LINC00588, RGS22, FBXL6, FBXO25, FGF20, RNU105C, SNORA72, SNORD54, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, ADAMDEC1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CNOT7, CPSF1, PURG, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, ZDHHC2, HGH1, KCNK9, SLC25A37, THEM6, UBR5, SCARA3, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, TRMT9B, ZFAT, CCAR2, ZNF250, PLEKHA2, SH2D4A, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, CSMD1, EBF2, FAM160B2, DEPTOR, PYCR3, ZBTB10, LYNX1, MTMR9, DUSP26, RHPN1-AS1, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, BIN3-IT1, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, CRISPLD1, TRAPPC9, TM2D2, TATDN1, NCALD, POMK, MAF1, UTP23, GINS4, HOOK3, PLPP5, MAK16, TRIM55, FUT10, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, FAM86B1, LRRCC1, TSPYL5, DNAJC5B, PSKH2, FAM110B, MED30, ERI1, ZNF251, KIFC2, TMEM67, LONRF1, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, CCDC26, ZNF572, GOT1L1, CIBAR1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, PRAG1, PEBP4, CDCA2, FER1L6-AS2, TMEM65, LINC00964, RDH10, BAALC-AS2, ANKRD46, ESCO2, FBXO16, MIR124-1HG, LRATD2, C8orf37, VPS13B, FAM87A, TDRP, ERICH1, SLC7A13, TMEM74, FAM91A1, C8orf48, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ZNF596, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, DEFB105A, DEFB106A, DEFB107A, DEFB130A, ATP6V0D2, NEIL2, YTHDF3, VXN, LOC254896, XKR6, NSMCE2, ZNF707, LINC02878, FAM83H, LOC286083, LINC01591, MICU3, ZNF252P-AS1, LINC02153, C8orf31, ZFP41, SCARA5, LINC02209, TRIQK, DPY19L4, FBXO43, LOC286177, LOC286178, NKAIN3, LINC01289, LINC01299, PPP1R42, C8orf34-AS1, LACTB2-AS1, GPIHBP1, LOC340357, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, LINC00965, PEG13, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, LOC401442, USP17L1, LOC401463, RBIS, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, SLURP2, FER1L6-AS1, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, PPDPFL, MIR383, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, NCRNA00250, LINC00251, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, C8orf49, DEFB135, DEFB136, DEFB134, ZNF704, ERICH1-AS1, LINC01298, LINC00589, MBOAT4, FAM85A, LINC00051, MIR486-1, TMEM75, DEFB109B, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, NKAIN3-IT1, RAD21-AS1, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, LINC00977, ZNF705D, OC90, LOC729732, LINC01300, MIR875, MIR937, MIR939, C8orf88, STAU2-AS1, FAM83H-AS1, RBPMS-AS1, FAM66B, LOC100128993, LOC100129098, LOC100129129, TCF24, LOC100130027, MIR124-2HG, LINC00861, LOC100130232, CCDC166, LOC100130298, C8orf89, LRRC69, LOC100130964, PRR23D1, FAM83A-AS1, ZNF705G, FAM66E, ZNF705B, LOC100132813, MSC-AS1, FAM66D, FAM66A, PRR23D2, DEFB130B, LY6E-DT, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, LOC100287846, LNCOC1, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, PTCSC1, LOC100310756, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3149, MIR3150A, MIR4286, MIR3151, BAALC-AS1, MIR3926-2, MIR3686, MIR3622A, MIR548AA1, MIR3926-1, MIR3622B, MIR3150B, MIR3674, MIR3610, LINC01602, LOC100505501, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, LOC100507516, MCPH1-AS1, LINC00968, LINC01606, C8orf44-SGK3, ZHX1-C8orf76, MIR4469, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4659A, MIR4660, MIR4659B, MIR4471, MIR4470, C8orf37-AS1, GS1-24F4.2, PCAT1, MIR5680, MIR5692A2, MIR5194, MIR5708, MIR5681A, MIR548AO, MIR5681B, NRG1-IT1, LINC00536, FSBP, LZTS1-AS1, LINC00534, NRG1-IT3, CA3-AS1, IGLV8OR8-1, LINC00681, YTHDF3-AS1, CCAT2, CASC9, PRNCR1, LOC101926892, LOC101926908, RDH10-AS1, LINC01617, LINC01111, PKIA-AS1, LOC101927040, LOC101927066, LINC01607, LOC101927141, UBR5-AS1, LOC101927245, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, LOC101927657, LOC101927752, LINC00824, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, LOC101928058, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LINC02099, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LINC02842, LOC101929709, LOC101929897, LINC01030, MIR6841, MIR6842, MIR6843, MIR6846, MIR6847, MIR6848, MIR6876, MIR7160, MIR486-2, MIR8055, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, LOC102467222, LOC102723313, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LINC01414, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, VPS13B-DT, LINC02844, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, LINC02855, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02847, LOC105375843, CERNA3, LINC02839, LOC105377777, FAM85B, LOC105379331, LINC02866, LOC105379393, LINC00976, SNORA99, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LINC02055, LOC108004525, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, CRE3, LOC108353813, LOC108491824, LOC108863620, SNORD38D, SNORD65B, SNORD77B, SNORD3F, SNORD3I, SNORA1B, SNORD3H, SNORD168, SNORD173, SNORD149, LOC110120608, LOC110120654, LOC110120689, LOC110120721, LOC110120738, LOC110120748, LOC110120756, LOC110120766, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110120797, LOC110120800, LOC110120801, LOC110120802, LOC110121038, LOC110121048, LOC110121054, LOC110121059, LOC110121062, LOC110121079, LOC110121096, LOC110121100, LOC110121123, LOC110121155, LOC110121157, LOC110121179, LOC110121182, LOC110121186, LOC110121191, LOC110121192, LOC110121196, LOC110121208, LOC110121217, LOC110121218, LOC110121233, LOC110121280, LOC110121281, LOC110596866, LOC110599578, LOC110673971, LOC110673972, LINC02155, LOC111089944, LYNX1-SLURP2, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, SIRLNT, LINC02605, MIR9903, MIR10400, MIR12123, LOC113783876, LOC113783877, LOC113783878, LOC113783879, LOC113783880, LOC113783881, LOC113788244, LOC113788245, LOC113788246, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, LOC113788255, LOC113788256, LOC113788257, LOC113788258, LOC113788259, LOC113788260, LOC113788261, LOC113788262, LOC113788263, LOC113788264, LOC113788265, LOC113788266, LOC113788267, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788277, LOC113788278, LOC113788279, LOC113788280, LOC113788281, LOC113788282, LOC113788283, LOC113788284, LOC113788285, LOC113788286, LOC113788287, LOC113788288, LOC113788289, LOC113788290, LOC113788291, LOC113788292, LOC113788293, LOC113788294, LOC113788295, LOC113788296, LOC113788297, LOC113788298, LOC113788299, LOC114004409, LOC114004410, LOC114004411
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057496
7.
GRCh37:
Chr8:191605-30948590
GRCh38:
Chr8:241605-31091074
DEFB4B, MIR1322, MIR548I3, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR4286, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, MIR3674, LOC100506990, LOC100507071, LOC100507156, SMIM18, DLGAP2-AS1, MCPH1-AS1, MIR4659A, MIR4660, MIR4659B, GS1-24F4.2, MIR5692A2, LZTS1-AS1, LINC00681, LOC101927752, LOC101927815, LOC101928058, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929229, LOC101929237, LOC101929269, LOC101929294, LOC101929315, EXTL3-AS1, LINC02099, LOC101929470, MIR6841, MIR6842, MIR6843, MIR6876, MIR7160, MIR8055, LOC102467222, LOC102723313, LOC102725080, KBTBD11-OT1, LOC105377777, FAM85B, LOC105379331, SNORA99, LOC106783493, LOC107522030, LOC107986876, LOC108004525, LOC108254664, CRE3, SNORD3F, SNORD3I, LOC110120689, LOC110120768, LOC110120769, LOC110120770, LOC110121062, LOC110121196, LOC110121233, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC111365225, LOC111465018, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788275, LOC113788276, LOC113788286, LOC113788289, LOC113788294, LOC114827823, LOC114827837, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, NAT1, NAT2, ADRA1A, ANGPT2, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, CTSB, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYSL2, DUSP4, EGR3, DMTN, EPHX2, CLN8, EXTL3, PTK2B, FDFT1, FGL1, LPL, GATA4, GFRA2, GNRH1, GSR, GTF2E2, LOXL2, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STC1, WRN, FZD3, TUSC3, UBXN8, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, MTMR7, MYOM2, PHYHIP, DLGAP2, MFHAS1, ENTPD4, ARHGEF10, KBTBD11, SORBS3, NPM2, DLC1, SPAG11B, DCTN6, PNMA2, ADAM28, RBPMS, LZTS1, XPO7, TRIM35, RHOBTB2, KIF13B, PSD3, LEPROTL1, SLC39A14, FBXO25, FGF20, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, PINX1, PIWIL2, ELP3, INTS10, CCDC25, AGPAT5, INTS9, CSGALNACT1, HR, PBK, ZNF395, DEFB103B, BIN3, TEX15, MTUS1, TRMT9B, CCAR2, SH2D4A, PDLIM2, CSMD1, EBF2, FAM160B2, MTMR9, HMBOX1, MCPH1, PPP1R3B, NUDT18, DOCK5, BIN3-IT1, REEP4, STMN4, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, CLDN23, VPS37A, NKX2-6, SGCZ,