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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr8:46310-11879315
GRCh38:
Chr8:96310-12021806
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059736
2.
GRCh37:
Chr8:46310-30472220
GRCh38:
Chr8:96310-30614703
ADAM28, ADAM7, ADAMDEC1, ADRA1A, AGPAT5, ANGPT2, ARHGEF10, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BIN3-IT1, BLK, BMP1, BNIP3L, C8orf48, C8orf58, C8orf74, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLDN23, CLN8, CLN8-AS1, CLU, CNOT7, CRE3, CSGALNACT1, CSMD1, CTSB, DCTN6, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ERI1, ERICH1, ERICH1-AS1, ESCO2, EXTL3, EXTL3-AS1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FBXO16, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, FZD3, GATA4, GFRA2, GNRH1, GS1-24F4.2, GTF2E2, HMBOX1, HR, HRURF, INTS10, INTS9, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, KCTD9, KIF13B, LEPROTL1, LGI3, LINC00208, LINC00529, LINC00589, LINC00681, LINC00965, LINC02099, LINC02153, LINC02209, LINC02905, LINCR-0001, LOC100128993, LOC100506990, LOC100507156, LOC101927506, LOC101927815, LOC101928095, LOC101929128, LOC101929172, LOC101929237, LOC101929269, LOC101929294, LOC101929315, LOC101929470, LOC102467222, LOC102723313, LOC102725080, LOC105377777, LOC105377785, LOC105379331, LOC106783493, LOC107522030, LOC107986876, LOC108004525, LOC108254664, 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, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121331297, LOC157273, LOC254896, LOC286083, LOC340357, LOC401442, LOC729732, LONRF1, LOXL2, LPL, LZTS1, LZTS1-AS1, MBOAT4, MCPH1, MCPH1-AS1, MCPH1-DT, MFHAS1, MICU3, MIR124-1, MIR124-1HG, MIR1322, MIR3148, MIR320A, MIR3622A, MIR3622B, MIR3674, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4287, MIR4288, MIR4659A, MIR4659B, MIR4660, MIR548H4, MIR548I3, MIR548V, MIR5692A2, MIR596, MIR597, MIR598, MIR6841, MIR6842, MIR6843, MIR6876, MIR7160, MIR8055, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MTUS1-DT, MYOM2, NAT1, NAT2, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NPM2, NUDT18, NUGGC, OR4F21, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PINX1-DT, PIWIL2, PIWIL2-DT, PNMA2, PNOC, POLR3D, PPP1R3B, PPP2R2A, PPP3CC, PRAG1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSD3, PTK2B, R3HCC1, RBPMS, RBPMS-AS1, REEP4, RHOBTB2, RP1L1, SARAF, SCARA3, SCARA5, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SNORA99, SNORD3F, SNORD3I, SORBS3, SOX7, SPAG11A, SPAG11B, STC1, STMN4, TDH-AS1, TDRP, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRIM35, TRMT9B, TUSC3, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VPS37A, XKR5, XKR6, XPO7, ZDHHC2, ZNF395, ZNF596, ZNF705B, ZNF705D, ZNF705G
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059735
3.
GRCh37:
Chr8:152100-1965389
GRCh38:
Chr8:202100-2017223
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060328
4.
GRCh37:
Chr8:158048-7044046
GRCh38:
Chr8:208048-7186524
See casesPathogenic
(Mar 18, 2014)
no assertion criteria providedVCV000155691
5.
GRCh37:
Chr8:158048-5473064
GRCh38:
Chr8:208048-5615542
See casesLikely pathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000155587
6.
GRCh37:
Chr8:158048-6944774
GRCh38:
Chr8:208048-7087252
See casesPathogenic
(Jul 16, 2013)
no assertion criteria providedVCV000155440
7.
GRCh37:
Chr8:158048-6999220
GRCh38:
Chr8:208048-7141698
See casesUncertain significance
(Mar 24, 2014)
no assertion criteria providedVCV000155311
8.
GRCh37:
Chr8:158048-146295771
GRCh38:
Chr8:208048-145070385
LOC105375690, LOC105375713, LOC105375773, LOC105375787, LOC105375843, LOC105375938, LOC105377777, LOC105377785, LOC105379331, LOC105379393, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LOC108004525, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, LOC108353813, LOC108491824, LOC108863620, 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, LOC111089944, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, 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, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121331297, LOC121331298, LOC121331299, LOC121331300, LOC121331301, LOC121331302, LOC121331303, LOC121331304, LOC121331305, LOC121331306, LOC121331307, LOC121331308, LOC121331309, LOC121331310, LOC121331311, LOC121331312, LOC121331313, LOC121331314, LOC121331315, LOC157273, LOC254896, LOC286083, LOC286177, LOC286178, LOC340357, LOC401442, LOC401463, LOC401478, LOC729732, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6E-DT, LY6H, LY6K, LY6L, LY96, LYN, LYNX1, LYNX1-SLURP2, LYPD2, LYPLA1, LZTS1, LZTS1-AS1, MAF1, MAFA, MAFA-AS1, MAILR, MAK16, MAL2, MAL2-AS1, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MCPH1-AS1, MCPH1-DT, MED30, MFHAS1, MFSD3, MICU3, MINCR, MIR10400, MIR1204, MIR1205, MIR1206, MIR1207, MIR1208, MIR12123, MIR1234, MIR124-1, MIR124-1HG, MIR124-2, MIR124-2HG, MIR1273A, MIR1302-7, MIR1322, MIR151A, MIR2052, MIR2052HG, MIR2053, MIR30B, MIR30D, MIR3148, MIR3149, MIR3150A, MIR3150B, MIR3150BHG, MIR3151, MIR320A, MIR3610, MIR3622A, MIR3622B, MIR3674, MIR3686, MIR378D2, MIR378D2HG, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4287, MIR4288, MIR4469, MIR4470, MIR4471, MIR4472-1, MIR4659A, MIR4659B, MIR4660, MIR4661, MIR4662A, MIR4662B, MIR4663, MIR4664, MIR486-1, MIR486-2, MIR5194, MIR548A3, MIR548AA1, MIR548AO, MIR548AZ, MIR548D1, MIR548H4, MIR548I3, MIR548V, MIR5680, MIR5681A, MIR5681B, MIR5692A2, MIR5708, MIR596, MIR597, MIR598, MIR599, MIR661, MIR6841, MIR6842, MIR6843, MIR6844, MIR6845, MIR6846, MIR6847, MIR6848, MIR6849, MIR6850, MIR6876, MIR6893, MIR7112, MIR7160, MIR7705, MIR7848, MIR8055, MIR8084, MIR875, MIR937, MIR939, MIR9903, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSC-AS1, MSR1, MSRA, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MTUS1-DT, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NCRNA00250, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKAIN3-IT1, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NRG1-IT1, NRG1-IT3, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OTUD6B-AS1, OXR1, OXR1-AS1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCAT2, PCM1, PCMTD1, PCMTD1-DT, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PEG13, PENK, PENK-AS1, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PINX1-DT, PIP4P2, PIWIL2, PIWIL2-DT, PKHD1L1, PKIA, PKIA-AS1, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRAG1, PRDM14, PREX2, PRKDC, PRNCR1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTCSC1, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD21-AS1, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBM12B-AS1, RBM12B-DT, RBPMS, RBPMS-AS1, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RHPN1-AS1, RIDA, RIMS2, RIPK2, RIPK2-DT, RMDN1, RNF122, RNF139, RNF139-DT, RNF170, RNF19A, RNU105C, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RRS1-DT, RSPO2, RUNX1T1, SAMD12, SAMD12-AS1, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SIRLNT, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SLURP2, SMILR, SMIM18, SMIM19, SNAI2, SNHG6, SNORA1B, SNORA72, SNORA99, SNORD13, SNORD149, SNORD168, SNORD173, SNORD38D, SNORD3F, SNORD3H, SNORD3I, SNORD54, SNORD65B, SNORD77B, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, SQLE-DT, ST18, ST3GAL1, STAR, STAU2, STAU2-AS1, STC1, STK3, STMN2, STMN4, SULF1, SYBU, SYBU-AS1, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDH-AS1, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TONSL-AS1, TOP1MT, TOX, TP53INP1, TPD52, TRA-AGC8-2, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRM-CAT1-1, TRMT12, TRMT9B, TRPA1, TRPS1, TRS-AGA2-5, TRY-GTA5-1, TRY-GTA5-2, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, UQCRB-AS1, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VIRMA-DT, VPS13B, VPS13B-DT, VPS28, VPS37A, VXN, WASHC5, WASHC5-AS1, WDR97, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YTHDF3-DT, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFAT-AS1, ZFHX4, ZFHX4-AS1, ZFP41, ZFPM2, ZFPM2-AS1, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF252P-AS1, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707, ZNNT1, AARD, ABRA, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ADGRA2, ADGRB1, ADHFE1, ADRA1A, ADRB3, AGO2, AGPAT5, ALKAL1, ANGPT1, ANGPT2, ANK1, ANKRD46, ANXA13, AP3M2, ARC, ARFGEF1, ARFGEF1-DT, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASAP1-IT2, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAALC-AS1, BAALC-AS2, BAG4, BHLHE22, BIN3, BIN3-IT1, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf34-AS1, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, C8orf86, C8orf88, C8orf89, CA1, CA13, CA2, CA3, CA3-AS1, CA8, CALB1, CASC11, CASC19, CASC21, CASC8, CASC9, CCAR2, CCAT1, CCAT2, CCDC166, CCDC25, CCDC26, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CERNA3, CFAP418, CFAP418-AS1, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CIBAR1-DT, CLDN23, CLN8, CLN8-AS1, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRE3, CRH, CRISPLD1, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7A1, CYP7B1, CYRIB, DCAF13, DCAF4L2, DCSTAMP, DCTN6, DDHD2, DECR1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DENND3-AS1, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DOCK5, DLGAP2, DLGAP2-AS1, DMTN, DNAAF11, DNAJC5B, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, E2F5-DT, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERI1, ERICD, ERICH1, ERICH1-AS1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EXTL3-AS1, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM83A, FAM83A-AS1, FAM83H, FAM83H-AS1, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FER1L6-AS1, FER1L6-AS2, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FLJ42969, FLJ46284, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GASAL1, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPAT4-AS1, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GS1-24F4.2, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HPYR1, HR, HRURF, HSF1, HTRA4, IDO1, IDO2, IGLV8OR8-1, IKBKB, IKBKB-DT, IL7, IMPA1, INTS10, INTS8, INTS9, IQANK1, JPH1, JRK, KAT6A, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LACTB2-AS1, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00051, LINC00208, LINC00251, LINC00293, LINC00529, LINC00534, LINC00536, LINC00588, LINC00589, LINC00681, LINC00824, LINC00861, LINC00964, LINC00965, LINC00967, LINC00968, LINC00976, LINC00977, LINC01030, LINC01109, LINC01111, LINC01151, LINC01181, LINC01288, LINC01289, LINC01298, LINC01299, LINC01300, LINC01301, LINC01414, LINC01419, LINC01591, LINC01592, LINC01602, LINC01603, LINC01605, LINC01606, LINC01607, LINC01608, LINC01609, LINC01617, LINC02055, LINC02099, LINC02153, LINC02155, LINC02209, LINC02235, LINC02237, LINC02605, LINC02839, LINC02842, LINC02844, LINC02847, LINC02855, LINC02866, LINC02878, LINC02894, LINC02904, LINC02905, LINC02906, LINC02912, LINCR-0001, LNCOC1, LOC100128993, LOC100129098, LOC100130027, LOC100130232, LOC100130298, LOC100130964, LOC100287846, LOC100310756, LOC100505501, LOC100506990, LOC100507156, LOC100507464, LOC100507516, LOC101926892, LOC101926908, LOC101927040, LOC101927066, LOC101927141, LOC101927245, LOC101927513, LOC101927543, LOC101927588, LOC101927657, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, LOC101928087, LOC101928095, LOC101928160, LOC101928902, LOC101929128, LOC101929172, LOC101929217, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LOC102467222, LOC102723313, LOC102723701, LOC102724612, LOC102724710, LOC102724804, LOC102724874, LOC102725080, LOC104054148, LOC105369147, LOC105375683
See casesPathogenic
(Aug 2, 2013)
no assertion criteria providedVCV000153413
9.
GRCh37:
Chr8:158048-6981988
GRCh38:
Chr8:208048-7124466
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000151750
10.
GRCh37:
Chr8:158048-6999114
GRCh38:
Chr8:208048-7141592
See casesPathogenic
(Sep 9, 2015)
no assertion criteria providedVCV000151132
11.
GRCh37:
Chr8:169853-6942337
GRCh38:
Chr8:219853-7084815
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060330
12.
GRCh37:
Chr8:169853-3671920
GRCh38:
Chr8:219853-3814398
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060329
13.
GRCh37:
Chr8:169853-10022996
GRCh38:
Chr8:219853-10165486
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059737
14.
GRCh37:
Chr8:176452-12556063
GRCh38:
Chr8:226452-12698554
See casesPathogenic
(Dec 17, 2012)
no assertion criteria providedVCV000155181
15.
GRCh37:
Chr8:176452-146294098
GRCh38:
Chr8:226452-145068712
TPD52, TRA-AGC8-2, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRM-CAT1-1, TRMT12, TRMT9B, TRPA1, TRPS1, TRS-AGA2-5, TRY-GTA5-1, TRY-GTA5-2, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, UQCRB-AS1, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VIRMA-DT, VPS13B, VPS13B-DT, VPS28, VPS37A, VXN, WASHC5, WASHC5-AS1, WDR97, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YTHDF3-DT, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFAT-AS1, ZFHX4, ZFHX4-AS1, ZFP41, ZFPM2, ZFPM2-AS1, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF252P-AS1, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707, ZNNT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAALC-AS1, BAALC-AS2, BAG4, BHLHE22, BIN3, BIN3-IT1, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf34-AS1, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, C8orf86, C8orf88, C8orf89, CA1, CA13, CA2, CA3, CA3-AS1, CA8, CALB1, CASC11, CASC19, CASC21, CASC8, CASC9, CCAR2, CCAT1, CCAT2, CCDC166, CCDC25, CCDC26, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CERNA3, CFAP418, CFAP418-AS1, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CIBAR1-DT, CLDN23, CLN8, CLN8-AS1, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRE3, CRH, CRISPLD1, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7A1, CYP7B1, CYRIB, DCAF13, DCAF4L2, DCSTAMP, DCTN6, DDHD2, DECR1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DENND3-AS1, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, E2F5-DT, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERI1, ERICD, ERICH1, ERICH1-AS1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EXTL3-AS1, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM83A, FAM83A-AS1, FAM83H, FAM83H-AS1, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FER1L6-AS1, FER1L6-AS2, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FLJ42969, FLJ46284, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GASAL1, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPAT4-AS1, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GS1-24F4.2, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HPYR1, HR, HRURF, HSF1, HTRA4, IDO1, IDO2, IGLV8OR8-1, IKBKB, IKBKB-DT, IL7, IMPA1, INTS10, INTS8, INTS9, IQANK1, JPH1, JRK, KAT6A, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LACTB2-AS1, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00051, LINC00208, LINC00251, LINC00293, LINC00529, LINC00534, LINC00536, LINC00588, LINC00589, LINC00681, LINC00824, LINC00861, LINC00964, LINC00965, LINC00967, LINC00968, LINC00976, LINC00977, LINC01030, LINC01109, LINC01111, LINC01151, LINC01181, LINC01288, LINC01289, LINC01298, LINC01299, LINC01300, LINC01301, LINC01414, LINC01419, LINC01591, LINC01592, LINC01602, LINC01603, LINC01605, LINC01606, LINC01607, LINC01608, LINC01609, LINC01617, LINC02055, LINC02099, LINC02153, LINC02155, LINC02209, LINC02235, LINC02237, LINC02605, LINC02839, LINC02842, LINC02844, LINC02847, LINC02855, LINC02866, LINC02878, LINC02894, LINC02904, LINC02905, LINC02906, LINC02912, LINCR-0001, LNCOC1, LOC100128993, LOC100129098, LOC100130027, LOC100130232, LOC100130298, LOC100130964, LOC100287846, LOC100310756, LOC100505501, LOC100506990, LOC100507156, LOC100507464, LOC100507516, LOC101926892, LOC101926908, LOC101927040, LOC101927066, LOC101927141, LOC101927245, LOC101927513, LOC101927543, LOC101927588, LOC101927657, LOC101927798, LOC101927815, LOC101927822, LOC101927845, LOC101927915, LOC101928087, LOC101928095, LOC101928160, LOC101928902, LOC101929128, LOC101929172, LOC101929217, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LOC102467222, LOC102723313, LOC102723701, LOC102724612, LOC102724710, LOC102724804, LOC102724874, LOC102725080, LOC104054148, LOC105369147, LOC105375683, LOC105375690, LOC105375713, LOC105375773, LOC105375787, LOC105375843, LOC105375938, LOC105377777, LOC105377785, LOC105379331, LOC105379393, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LOC107986876, LOC108004525, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, LOC108353813, LOC108491824, LOC108863620, 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, LOC111089944, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, LOC113783876, LOC113783877, LOC113783878, LOC113783879, LOC113783880, LOC113783881, LOC113788244, LOC113788245, LOC113788246, LOC113788247, LOC113788248, LOC113788249, LOC113788251, LOC113788252, LOC113788253, LOC113788254, AARD, ABRA, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ADGRA2, ADGRB1, ADHFE1, ADRA1A, ADRB3, AGO2, AGPAT5, ALKAL1, ANGPT1, ANGPT2, ANK1, ANKRD46, ANXA13, AP3M2, ARC, ARFGEF1, ARFGEF1-DT, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASAP1-IT2, 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, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC116186924, LOC116186925, LOC116186926, LOC116186927, LOC116186928, LOC116186929, LOC116186930, LOC116186931, LOC116186932, LOC116186933, LOC116186934, LOC116186935, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121331297, LOC121331298, LOC121331299, LOC121331300, LOC121331301, LOC121331302, LOC121331303, LOC121331304, LOC121331305, LOC121331306, LOC121331307, LOC121331308, LOC121331309, LOC121331310, LOC121331311, LOC121331312, LOC121331313, LOC121331314, LOC121331315, LOC157273, LOC254896, LOC286083, LOC286177, LOC286178, LOC340357, LOC401442, LOC401463, LOC401478, LOC729732, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6E-DT, LY6H, LY6K, LY6L, LY96, LYN, LYNX1, LYNX1-SLURP2, LYPD2, LYPLA1, LZTS1, LZTS1-AS1, MAF1, MAFA, MAFA-AS1, MAILR, MAK16, MAL2, MAL2-AS1, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MCPH1-AS1, MCPH1-DT, MED30, MFHAS1, MFSD3, MICU3, MINCR, MIR10400, MIR1204, MIR1205, MIR1206, MIR1207, MIR1208, MIR12123, MIR1234, MIR124-1, MIR124-1HG, MIR124-2, MIR124-2HG, MIR1273A, MIR1302-7, MIR1322, MIR151A, MIR2052, MIR2052HG, MIR2053, MIR30B, MIR30D, MIR3148, MIR3149, MIR3150A, MIR3150B, MIR3150BHG, MIR3151, MIR320A, MIR3610, MIR3622A, MIR3622B, MIR3674, MIR3686, MIR378D2, MIR378D2HG, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4287, MIR4288, MIR4469, MIR4470, MIR4471, MIR4472-1, MIR4659A, MIR4659B, MIR4660, MIR4661, MIR4662A, MIR4662B, MIR4663, MIR4664, MIR486-1, MIR486-2, MIR5194, MIR548A3, MIR548AA1, MIR548AO, MIR548AZ, MIR548D1, MIR548H4, MIR548I3, MIR548V, MIR5680, MIR5681A, MIR5681B, MIR5692A2, MIR5708, MIR596, MIR597, MIR598, MIR599, MIR661, MIR6841, MIR6842, MIR6843, MIR6844, MIR6845, MIR6846, MIR6847, MIR6848, MIR6849, MIR6850, MIR6876, MIR6893, MIR7112, MIR7160, MIR7705, MIR7848, MIR8055, MIR8084, MIR875, MIR937, MIR939, MIR9903, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSC-AS1, MSR1, MSRA, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MTUS1-DT, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NCRNA00250, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKAIN3-IT1, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NRG1-IT1, NRG1-IT3, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OTUD6B-AS1, OXR1, OXR1-AS1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCAT2, PCM1, PCMTD1, PCMTD1-DT, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PEG13, PENK, PENK-AS1, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PINX1-DT, PIP4P2, PIWIL2, PIWIL2-DT, PKHD1L1, PKIA, PKIA-AS1, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRAG1, PRDM14, PREX2, PRKDC, PRNCR1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTCSC1, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD21-AS1, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBM12B-AS1, RBM12B-DT, RBPMS, RBPMS-AS1, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RHPN1-AS1, RIDA, RIMS2, RIPK2, RIPK2-DT, RMDN1, RNF122, RNF139, RNF139-DT, RNF170, RNF19A, RNU105C, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RRS1-DT, RSPO2, RUNX1T1, SAMD12, SAMD12-AS1, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SIRLNT, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SLURP2, SMILR, SMIM18, SMIM19, SNAI2, SNHG6, SNORA1B, SNORA72, SNORA99, SNORD13, SNORD149, SNORD168, SNORD173, SNORD38D, SNORD3F, SNORD3H, SNORD3I, SNORD54, SNORD65B, SNORD77B, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, SQLE-DT, ST18, ST3GAL1, STAR, STAU2, STAU2-AS1, STC1, STK3, STMN2, STMN4, SULF1, SYBU, SYBU-AS1, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDH-AS1, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TONSL-AS1, TOP1MT, TOX, TP53INP1
See casesPathogenic
(Dec 10, 2012)
no assertion criteria providedVCV000154791
16.
GRCh37:
Chr8:176452-4173694
GRCh38:
Chr8:226452-4316172
See casesUncertain significance
(Aug 13, 2012)
no assertion criteria providedVCV000154744
17.
GRCh37:
Chr8:176452-16137655
GRCh38:
Chr8:226452-16280146
AGPAT5, ANGPT2, ARHGEF10, BLK, C8orf48, C8orf74, CLDN23, CLN8, CLN8-AS1, CRE3, CSMD1, CTSB, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, ERI1, ERICH1, ERICH1-AS1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FBXO25, FDFT1, GATA4, GS1-24F4.2, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, LINC00208, LINC00529, LINC00681, LINC00965, LINC02905, LINCR-0001, LOC100506990, LOC101927815, LOC101928095, LOC101929128, LOC101929269, LOC102723313, LOC102725080, LOC105377777, LOC105377785, LOC106783493, LOC107522030, LOC110120689, LOC110121280, LOC110121281, LOC111365225, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788286, LOC113788289, LOC113788294, LOC114827837, LOC116186920, LOC116186921, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC157273, LOC286083, LOC340357, LOC401442, LOC729732, LONRF1, MCPH1, MCPH1-AS1, MCPH1-DT, MFHAS1, MIR124-1, MIR124-1HG, MIR1322, MIR3674, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4659A, MIR4659B, MIR4660, MIR548I3, MIR5692A2, MIR596, MIR597, MIR598, MIR7160, MIR8055, MSR1, MSRA, MTMR9, MYOM2, NEIL2, PINX1, PINX1-DT, PPP1R3B, PRAG1, PRR23D1, PRR23D2, PRSS51, PRSS55, RP1L1, SGCZ, SLC35G5, SNORA99, SNORD3I, SOX7, SPAG11A, SPAG11B, TDH-AS1, TDRP, TNKS, TRMT9B, TUSC3, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, XKR5, XKR6, ZNF596, ZNF705B, ZNF705D, ZNF705G
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152917
18.
GRCh37:
Chr8:176452-34349408
GRCh38:
Chr8:226452-34491890
LOC107986876, LOC108004525, LOC111365225, LOC111465018, LOC113788275, LOC116186924, LOC116186925, LOC116186926, LOC121268919, LOC157273, LOC254896, LOC286083, LOC340357, MBOAT4, MCPH1, MCPH1-AS1, MCPH1-DT, MIR4660, MIR548H4, MIR548I3, MIR548V, MIR5692A2, MIR596, MTUS1, MTUS1-DT, PDLIM2, PPP2CB, PPP2R2A, PPP3CC, REEP4, SLC18A1, SLC25A37, SPAG11A, TNKS, USP17L4, USP17L7, USP17L8, VPS37A, ZDHHC2, ZNF395, WRN, XKR5, XKR6, XPO7, ZNF596, ZNF705B, ZNF705D, ZNF705G, SPAG11B, STC1, STMN4, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, SNORA99, SNORD13, SNORD3F, TDH-AS1, TDRP, TEX15, TNFRSF10C, TNFRSF10D, TRIM35, UBXN8, USP17L1, TRMT9B, TTI2, TUSC3, RHOBTB2, RNF122, SCARA3, SCARA5, SFTPC, PRSS55, PSD3, RBPMS, RBPMS-AS1, SGCZ, SH2D4A, RP1L1, SARAF, USP17L2, USP17L3, SLC35G5, SNORD3I, SORBS3, SOX7, PEBP4, NRG1-IT1, NRG1-IT3, NUDT18, NUGGC, PNMA2, PNOC, PBK, PCM1, PDGFRL, POLR3D, PPP1R3B, PHYHIP, PINX1, MTMR7, MTMR9, PINX1-DT, PIWIL2, PIWIL2-DT, SLC39A14, SLC7A2, SMIM18, PRAG1, PRR23D1, PRR23D2, PRSS51, PTK2B, PURG, R3HCC1, MYOM2, NAT1, NAT2, MIR383, MIR3926-1, MIR3926-2, MIR6842, MIR6843, MIR320A, MIR3622A, MIR3622B, MIR3674, MIR4286, MIR4287, MIR4288, MIR4659A, MIR4659B, MIR6876, MIR7160, MIR8055, NRG1, LOC401442, LOC729732, LZTS1, LZTS1-AS1, MAK16, MIR597, MIR598, MIR6841, LOC121294073, LOC121331295, LOC121331296, LOC121331297, LOC121268920, LOC121268921, LOC121294074, LOC121294075, LOC121294076, LONRF1, LOXL2, LPL, MSR1, MSRA, LOC113788276, LOC113788286, LOC113788289, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788271, LOC113788272, LOC113788273, LOC113788274, LOC113788294, LOC114004413, LOC114827823, LOC114827837, LOC116186920, LOC108254664, LOC110120689, LOC110120768, LOC110121196, LOC110121233, LOC110120769, LOC110120770, LOC110121062, LOC110121192, LOC110121280, LOC110121281, LOC111255642, LOC111255645, LOC116186921, LOC116186922, LOC116186923, LOC111818956, LOC113788244, LOC113788245, LOC102725080, LOC105377777, LOC105377785, LOC105379331, LOC106783493, LOC107522030, MFHAS1, MICU3, MIR124-1, MIR124-1HG, MIR1322, MIR3148, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NPM2, ADAM28, ADAM7, ADAMDEC1, ADRA1A, AGPAT5, ANGPT2, ARHGEF10, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BIN3-IT1, BLK, BMP1, BNIP3L, C8orf48, C8orf58, C8orf74, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLDN23, CLN8, CLN8-AS1, CLU, CNOT7, CRE3, CSGALNACT1, CSMD1, CTSB, DCTN6, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ERI1, ERICH1, ERICH1-AS1, ESCO2, EXTL3, EXTL3-AS1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FBXO16, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, FUT10, FZD3, GATA4, GFRA2, GNRH1, GS1-24F4.2, GSR, GTF2E2, HMBOX1, HR, HRURF, INTS10, INTS9, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, KCTD9, KIF13B, LEPROTL1, LGI3, LINC00208, LINC00529, LINC00589, LINC00681, LINC00965, LINC02099, LINC02153, LINC02209, LINC02905, LINCR-0001, LOC100128993, LOC100506990, LOC100507156, LOC101927815, LOC101928095, LOC101929128, LOC101929172, LOC101929237, LOC101929269, LOC101929294, LOC101929315, LOC101929470, LOC102467222, LOC102723313
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152909
19.
GRCh37:
Chr8:176452-1965389
GRCh38:
Chr8:226452-2017223
See casesPathogenic
(Jan 14, 2013)
no assertion criteria providedVCV000152253
20.
GRCh37:
Chr8:176452-6942337
GRCh38:
Chr8:226452-7084815
See casesPathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000150616
21.
GRCh37:
Chr8:176452-6920273
GRCh38:
Chr8:226452-7062751
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000150497
22.
GRCh37:
Chr8:176452-2625470
GRCh38:
Chr8:226452-2767932
See casesUncertain significance
(May 7, 2012)
no assertion criteria providedVCV000150139
23.
GRCh37:
Chr8:176452-7838959
GRCh38:
Chr8:226452-7981437
See casesPathogenic
(Mar 12, 2012)
no assertion criteria providedVCV000149174
24.
GRCh37:
Chr8:176452-12570496
GRCh38:
Chr8:226452-12712987
See casesPathogenic
(Mar 9, 2012)
no assertion criteria providedVCV000148922
25.
GRCh37:
Chr8:176452-37879246
GRCh38:
Chr8:226452-38021728
PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PINX1-DT, PIWIL2, PIWIL2-DT, PLPBP, PNMA2, PNOC, POLR3D, PPP1R3B, PPP2CB, PPP2R2A, PPP3CC, PRAG1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSD3, PTK2B, PURG, R3HCC1, RAB11FIP1, RBPMS, RBPMS-AS1, REEP4, RHOBTB2, RNF122, RP1L1, SARAF, SCARA3, SCARA5, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SMIM18, SNORA99, SNORD13, SNORD3F, SNORD3I, SORBS3, SOX7, SPAG11A, SPAG11B, STC1, STMN4, TDH-AS1, TDRP, TEX15, TNFRSF10A, TNFRSF10A-DT, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRIM35, TRMT9B, TTI2, TUSC3, UBXN8, UNC5D, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VPS37A, WRN, XKR5, XKR6, XPO7, ZDHHC2, ZNF395, ZNF596, ZNF703, ZNF705B, ZNF705D, ZNF705G, ADAM28, ADAM7, ADAMDEC1, ADGRA2, ADRA1A, ADRB3, AGPAT5, ANGPT2, ARHGEF10, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BIN3-IT1, BLK, BMP1, BNIP3L, BRF2, C8orf48, C8orf58, C8orf74, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLDN23, CLN8, CLN8-AS1, CLU, CNOT7, CRE3, CSGALNACT1, CSMD1, CTSB, DCTN6, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ERI1, ERICH1, ERICH1-AS1, ERLIN2, ESCO2, EXTL3, EXTL3-AS1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FBXO16, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, FUT10, FZD3, GATA4, GFRA2, GNRH1, GOT1L1, GS1-24F4.2, GSR, GTF2E2, HMBOX1, HR, HRURF, INTS10, INTS9, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, KCNU1, KCTD9, KIF13B, LEPROTL1, LGI3, LINC00208, LINC00529, LINC00589, LINC00681, LINC00965, LINC01288, LINC01605, LINC02099, LINC02153, LINC02209, LINC02905, LINCR-0001, LOC100128993, LOC100506990, LOC100507156, LOC101927815, LOC101928095, LOC101929128, LOC101929172, LOC101929237, LOC101929269, LOC101929294, LOC101929315, LOC101929470, LOC101929550, LOC101929622, LOC102467222, LOC102723313, LOC102723701, LOC102725080, LOC105377777, LOC105377785, LOC105379331, LOC106783493, LOC107522030, LOC107986876, LOC108004525, LOC108254664, LOC108281187, 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, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC121331295, LOC121331296, LOC121331297, LOC121331298, LOC157273, LOC254896, LOC286083, LOC340357, LOC401442, LOC729732, LONRF1, LOXL2, LPL, LZTS1, LZTS1-AS1, MAK16, MBOAT4, MCPH1, MCPH1-AS1, MCPH1-DT, MFHAS1, MICU3, MIR124-1, MIR124-1HG, MIR1322, MIR3148, MIR320A, MIR3622A, MIR3622B, MIR3674, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4287, MIR4288, MIR4659A, MIR4659B, MIR4660, MIR548H4, MIR548I3, MIR548V, MIR5692A2, MIR596, MIR597, MIR598, MIR6841, MIR6842, MIR6843, MIR6876, MIR7160, MIR8055, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MTUS1-DT, MYOM2, NAT1, NAT2, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NPM2, NRG1, NRG1-IT1, NRG1-IT3, NUDT18, NUGGC
See casesPathogenic
(Sep 30, 2011)
no assertion criteria providedVCV000148741
26.
GRCh37:
Chr8:176452-3047205
GRCh38:
Chr8:226452-3189683
See casesLikely pathogenic
(Mar 21, 2011)
no assertion criteria providedVCV000148183
27.
GRCh37:
Chr8:191330-1796164
GRCh38:
Chr8:241330-1847998
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000060331
28.
GRCh37:
Chr8:191530-7752586
GRCh38:
Chr8:241530-7895064
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000161038
29.
GRCh37:
Chr8:191530-7752586
GRCh38:
Chr8:241530-7895064
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000161036
30.
GRCh37:
Chr8:191530-6880363
GRCh38:
Chr8:241530-7022841
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000160883
31.
GRCh37:
Chr8:191530-10315994
GRCh38:
Chr8:241530-10458484
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154529
32.
GRCh37:
Chr8:191530-6914076
GRCh38:
Chr8:241530-7056554
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147663
33.
GRCh37:
Chr8:191530-3189335
GRCh38:
Chr8:241530-3331813
See casesPathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000147569
34.
GRCh37:
Chr8:191530-23055911
GRCh38:
Chr8:241530-23198398
AGPAT5, ANGPT2, ARHGEF10, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BIN3-IT1, BLK, BMP1, C8orf48, C8orf58, C8orf74, CCAR2, CLDN23, CLN8, CLN8-AS1, CNOT7, CRE3, CSGALNACT1, CSMD1, CTSB, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109B, DEFB130A, DEFB130B, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DLC1, DLGAP2, DLGAP2-AS1, DMTN, DOK2, EGR3, ERI1, ERICH1, ERICH1-AS1, FAM167A, FAM167A-AS1, FAM66A, FAM66B, FAM66D, FAM66E, FAM85A, FAM85B, FAM86B1, FAM86B2, FAM87A, FBXO25, FDFT1, FGF17, FGF20, FGL1, FHIP2B, GATA4, GFRA2, GS1-24F4.2, HR, HRURF, INTS10, KBTBD11, KBTBD11-AS1, KBTBD11-OT1, LGI3, LINC00208, LINC00529, LINC00681, LINC00965, LINC02153, LINC02905, LINCR-0001, LOC100128993, LOC100506990, LOC101927815, LOC101928095, LOC101929128, LOC101929172, LOC101929237, LOC101929269, LOC102467222, LOC102723313, LOC102725080, LOC105377777, LOC105377785, LOC106783493, LOC107522030, LOC107986876, LOC110120689, LOC110120768, LOC110120769, LOC110120770, LOC110121280, LOC110121281, LOC111255642, LOC111365225, LOC111818956, LOC113788244, LOC113788245, LOC113788246, LOC113788268, LOC113788269, LOC113788270, LOC113788286, LOC113788289, LOC113788294, LOC114827823, LOC114827837, LOC116186920, LOC116186921, LOC116186922, LOC116186923, LOC121268919, LOC121268920, LOC121268921, LOC121294073, LOC121294074, LOC121294075, LOC121294076, LOC157273, LOC254896, LOC286083, LOC340357, LOC401442, LOC729732, LONRF1, LPL, LZTS1, LZTS1-AS1, MCPH1, MCPH1-AS1, MCPH1-DT, MFHAS1, MICU3, MIR124-1, MIR124-1HG, MIR1322, MIR320A, MIR3674, MIR383, MIR3926-1, MIR3926-2, MIR4286, MIR4659A, MIR4659B, MIR4660, MIR548I3, MIR548V, MIR5692A2, MIR596, MIR597, MIR598, MIR7160, MIR8055, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MTUS1-DT, MYOM2, NAT1, NAT2, NEIL2, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PINX1-DT, PIWIL2, PIWIL2-DT, POLR3D, PPP1R3B, PPP3CC, PRAG1, PRR23D1, PRR23D2, PRSS51, PRSS55, PSD3, REEP4, RHOBTB2, RP1L1, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC35G5, SLC39A14, SLC7A2, SNORA99, SNORD3F, SNORD3I, SORBS3, SOX7, SPAG11A, SPAG11B, TDH-AS1, TDRP, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRMT9B, TUSC3, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VPS37A, XKR5, XKR6, XPO7, ZDHHC2, ZNF596, ZNF705B, ZNF705D, ZNF705G
See casesPathogenic
(Nov 30, 2009)
no assertion criteria providedVCV000146718
35.
GRCh37:
Chr8:191530-10724642
GRCh38:
Chr8:241530-10867132