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Items: 72

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:106431420
GRCh38:
Chr8:105419192
ZFPM2Diaphragmatic hernia 3, Tetralogy of Fallot, Double outlet right ventricle,
46,XY sex reversal 9
Conflicting interpretations of pathogenicity
(May 2, 2017)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr8:106456600
GRCh38:
Chr8:105444372
ZFPM246,XY sex reversal 9Benign
(Apr 6, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr8:106573578
GRCh38:
Chr8:105561350
ZFPM2not specifiedBenign
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr8:106573623
GRCh38:
Chr8:105561395
ZFPM2Diaphragmatic hernia 3Pathogenic
(Jul 1, 2005)
no assertion criteria provided
5.
GRCh37:
Chr8:106573653
GRCh38:
Chr8:105561425
ZFPM246,XY sex reversal 9Uncertain significance
(Jul 26, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr8:106646497
GRCh38:
Chr8:105634269
ZFPM246,XY sex reversal 9Uncertain significance
(Jan 22, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr8:106801042
GRCh38:
Chr8:105788814
ZFPM2, ZFPM2-AS1not specified, 46,XY sex reversal 9Benign/Likely benign
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr8:106801094
GRCh38:
Chr8:105788866
ZFPM2, ZFPM2-AS1Double outlet right ventriclePathogenic
(Aug 1, 2011)
no assertion criteria provided
9.
GRCh37:
Chr8:106810991
GRCh38:
Chr8:105798763
ZFPM2, ZFPM2-AS146,XY sex reversal 9Pathogenic
(Jul 15, 2014)
no assertion criteria provided
10.
GRCh37:
Chr8:106811034
GRCh38:
Chr8:105798806
ZFPM2, ZFPM2-AS146,XY sex reversal 9Likely benign
(May 22, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr8:106813271-106813272
GRCh38:
Chr8:105801043-105801044
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(Dec 13, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:106813474
GRCh38:
Chr8:105801246
ZFPM2, ZFPM2-AS146,XY sex reversal 9Likely benign
(Jun 11, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:106813516
GRCh38:
Chr8:105801288
ZFPM2, ZFPM2-AS146,XY sex reversal 9Pathogenic
(Jul 15, 2014)
no assertion criteria provided
14.
GRCh37:
Chr8:106813518
GRCh38:
Chr8:105801290
ZFPM2, ZFPM2-AS1not specifiedBenigncriteria provided, single submitter
15.
GRCh37:
Chr8:106813672
GRCh38:
Chr8:105801444
ZFPM2, ZFPM2-AS1not specifiedBenigncriteria provided, single submitter
16.
GRCh37:
Chr8:106813830
GRCh38:
Chr8:105801602
ZFPM2, ZFPM2-AS1not specifiedUncertain significance
(Jun 28, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr8:106813942
GRCh38:
Chr8:105801714
ZFPM2, ZFPM2-AS1not specifiedUncertain significance
(Sep 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr8:106813942
GRCh38:
Chr8:105801714
ZFPM2, ZFPM2-AS1Tetralogy of Fallot, not specified, not provided,
46,XY sex reversal 9
Conflicting interpretations of pathogenicity
(Aug 4, 2017)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr8:106814086
GRCh38:
Chr8:105801858
ZFPM2, ZFPM2-AS1not specified, 46,XY sex reversal 9Benign
(Jul 9, 2017)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr8:106814161
GRCh38:
Chr8:105801933
ZFPM2, ZFPM2-AS1not specifiedLikely benigncriteria provided, single submitter
21.
GRCh37:
Chr8:106814279
GRCh38:
Chr8:105802051
ZFPM2, ZFPM2-AS1Tetralogy of Fallot, 46,XY sex reversal 9Conflicting interpretations of pathogenicity
(Jun 17, 2017)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr8:106814406
GRCh38:
Chr8:105802178
ZFPM2, ZFPM2-AS146,XY sex reversal 9Uncertain significance
(Jan 25, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr8:106814417
GRCh38:
Chr8:105802189
ZFPM2, ZFPM2-AS1Diaphragmatic hernia 3, Double outlet right ventriclePathogenic
(Nov 1, 2012)
no assertion criteria provided
24.
GRCh37:
Chr8:106814456
GRCh38:
Chr8:105802228
ZFPM2, ZFPM2-AS146,XY sex reversal 9Uncertain significance
(May 5, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr8:106814519
GRCh38:
Chr8:105802291
ZFPM2, ZFPM2-AS1Double outlet right ventriclePathogenic
(Nov 1, 2012)
no assertion criteria provided
26.
GRCh37:
Chr8:106814597
GRCh38:
Chr8:105802369
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(May 2, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr8:106814656
GRCh38:
Chr8:105802428
ZFPM2, ZFPM2-AS1not specifiedBenign
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr8:106814695
GRCh38:
Chr8:105802467
ZFPM2, ZFPM2-AS1not specified, 46,XY sex reversal 9Benign
(Jul 9, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr8:106814837
GRCh38:
Chr8:105802609
ZFPM2, ZFPM2-AS1Diaphragmatic hernia 3Pathogenic
(Sep 1, 2007)
no assertion criteria provided
30.
GRCh37:
Chr8:106814975
GRCh38:
Chr8:105802747
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(Jul 28, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr8:106815286
GRCh38:
Chr8:105803058
ZFPM2, ZFPM2-AS1not specified, 46,XY sex reversal 9Benign
(Jul 9, 2017)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr8:106815388
GRCh38:
Chr8:105803160
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(Jan 11, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr8:106815474
GRCh38:
Chr8:105803246
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(Jun 17, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr8:106815517
GRCh38:
Chr8:105803289
ZFPM2, ZFPM2-AS1not specifiedBenigncriteria provided, single submitter
35.
GRCh37:
Chr8:106815604
GRCh38:
Chr8:105803376
ZFPM2, ZFPM2-AS146,XY sex reversal 9Uncertain significance
(Oct 4, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:106815644
GRCh38:
Chr8:105803416
ZFPM2, ZFPM2-AS146,XY sex reversal 9Uncertain significance
(Mar 23, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr8:106815679
GRCh38:
Chr8:105803451
ZFPM2, ZFPM2-AS146,XY sex reversal 9Benign
(Jun 17, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr8:86841154-146295771
ADCY8, ANGPT1, ANXA13, ATP6V1C1, ADGRB1, OSGIN2, CALB1, RUNX1T1, CDH17, COX6C, CYC1, CYP11B1, CYP11B2, DECR1, DPYS, EEF1D, EXT1, GEM, GLI4, GML, GPR20, GPT, GRINA, HAS2, HSF1, EIF3E, KCNQ3, KCNS2, LY6E, LY6H, MATN2, MMP16, MYC, NBN, NDUFB9, TONSL, NOV, ODF1, TNFRSF11B, ENPP2, PLEC, POLR2K, POU5F1B, PTK2, PVT1, RAD21, RPL8, RPL30, SDC2, ST3GAL1, SLA, SNTB1, SPAG1, SQLE, STK3, TAF2, TG, KLF10, TRHR, TRPS1, TSTA3, COL14A1, UQCRB, YWHAZ, ZNF7, ZNF16, PSCA, FZD6, LY6D, JRK, EIF3H, DGAT1, GPAA1, RIPK2, WISP1, CPNE3, FOXH1, CCNE2, EBAG9, RECQL4, LRRC14, EMC2, RIMS2, MTSS1, PTDSS1, ZNF623, WASHC5, HHLA1, TRIB1, RIDA, NDRG1, CPQ, COLEC10, KHDRBS3, POP1, WWP1, PTP4A3, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, ARC, BOP1, ZFPM2, SCRIB, LRRC6, RAD54B, DCAF13, RNF19A, VIRMA, RGS22, FBXL6, OPLAH, PABPC1, KCNV1, MTBP, AGO2, COMMD5, MRPL13, ATAD2, ASAP1-IT1, CPSF1, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, FAM135B, PHF20L1, RMDN1, ZNF706, VPS28, HGH1, KCNK9, THEM6, UBR5, FAM49B, AZIN1, OTUD6B, CHRAC1, EXOSC4, PDP1, CNGB3, LY6K, ESRP1, TRMT12, OXR1, WDYHV1, LAPTM4B, PIP4P2, SLC39A4, SYBU, INTS8, GSDMC, ENY2, SLURP1, SLC45A4, ZFAT, ZNF250, NECAB1, DEPTOR, PYCR3, C8orf33, LYNX1, DSCC1, DERL1, SLC52A2, PLEKHF2, GSDMD, NIPAL2, BAALC, ZNF696, GRHL2, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, SHARPIN, EPPK1, SCRT1, TRAPPC9, TATDN1, NCALD, MAF1, UTP23, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, TSPYL5, PSKH2, MED30, ZNF251, KIFC2, TMEM67, MTDH, PKHD1L1, NAPRT, TBC1D31, TP53INP1, MFSD3, MAL2, CSMD3, RHPN1, FBXO32, SLC26A7, CTHRC1, OSR2, TOP1MT, ZNF572, FAM92A, NDUFAF6, ABRA, LYPD2, TMEM71, DCAF4L2, TMEM65, ANKRD46, FAM84B, C8orf37, VPS13B, SLC7A13, TMEM74, FAM91A1, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ADCK5, TSNARE1, ERICH5, MAPK15, ATP6V0D2, NSMCE2, ZNF707, FAM83H, C8orf31, ZFP41, TRIQK, DPY19L4, FBXO43, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, SPATC1, C8orf87, RBM12B, MROH5, MAFA, GDF6, SAMD12, C8orf82, AARD, LRRC24, HAS2-AS1, MROH6, SCX, FER1L6, MIR661, MROH1, OC90, LOC100130232, CCDC166, LRRC69, MIR1234, C8orf17, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, UBR5-AS1
See casesPathogenic
(Mar 26, 2015)
no assertion criteria provided
39.
GRCh37:
Chr8:12490999-146295771
NAT1, NAT2, ADCY8, ADRA1A, ADRB3, ANGPT1, ANK1, ANXA13, ASAH1, ASPH, ATP6V1B2, ATP6V1C1, ADGRB1, BMP1, POLR3D, BNIP3L, OSGIN2, CA1, CA2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, CHRNA2, CHRNB3, CLU, COX6C, CRH, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DPYS, DPYSL2, DUSP4, E2F5, EEF1D, EGR3, EIF4EBP1, DMTN, EPHX2, EXT1, EXTL3, EYA1, FABP4, FABP5, PTK2B, FGFR1, FGL1, FNTA, ADAM2, 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, MYBL1, MYC, NBN, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, NOV, 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, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, ADAM7, RIPK2, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, GGH, WISP1, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MSC, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, 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, RGS22, FBXL6, FGF20, 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, FAM49B, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, IMPAD1, TMEM70, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, LAPTM4B, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, BIN3, TEX15, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, TRMT9B, ZFAT, CCAR2, ZNF250, PLEKHA2, SH2D4A, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, EBF2, FAM160B2, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, DUSP26, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, CRISPLD1, TRAPPC9, TM2D2, TATDN1, NCALD, POMK, MAF1, UTP23, GINS4, HOOK3, PLPP5, MAK16, TRIM55, FUT10, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, LRRCC1, TSPYL5, DNAJC5B, PSKH2, FAM110B, MED30, ZNF251, KIFC2, TMEM67, LONRF1, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, ZNF572, GOT1L1, FAM92A, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, PEBP4, CDCA2, TMEM65, RDH10, ANKRD46, ESCO2, FBXO16, FAM84B, C8orf37, VPS13B, SLC7A13, TMEM74, FAM91A1, C8orf48, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, ATP6V0D2, YTHDF3, C8orf46, NSMCE2, ZNF707, FAM83H, MICU3, C8orf31, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, SLC10A5, SPATC1, CA13, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, GDF6, C8orf59, SAMD12, MIR320A, C8orf82, AARD, LRRC24, PPDPFL, LINC00293, C8orf58, HAS2-AS1, ZNF704, MBOAT4, SNHG6, SNORD87, MROH6, SCX, FABP9, FABP12, FER1L6, MIR661, MROH1, OC90, TCF24, LOC100130232, CCDC166, LRRC69, MIR1234, LINC01602, C8orf17, SMIM18, C8orf44-SGK3, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, RDH10-AS1, UBR5-AS1, LOC101929066
See casesPathogenic
(Aug 15, 2014)
no assertion criteria provided
40.
GRCh37:
Chr8:106058743-106717749
ZFPM2See casesUncertain significance
(May 22, 2013)
no assertion criteria provided
41.
GRCh37:
Chr8:105388734-106601051
DPYS, ZFPM2, LRP12, LOC100130232See casesUncertain significance
(Mar 16, 2015)
no assertion criteria provided
42.
GRCh37:
Chr8:158049-146295771
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, NOV, 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, WISP1, 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, RGS22, FBXL6, FBXO25, FGF20, 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, FAM49B, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, IMPAD1, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, 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, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, 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, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, ZNF572, GOT1L1, FAM92A, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, PEBP4, CDCA2, TMEM65, RDH10, ANKRD46, ESCO2, FBXO16, FAM84B, C8orf37, VPS13B, 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, C8orf46, XKR6, NSMCE2, ZNF707, FAM83H, MICU3, C8orf31, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, SPATC1, USP17L2, CA13, XKR5, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, C8orf59, SAMD12, MIR124-1, MIR320A, DEFB103A, C8orf82, AARD, LRRC24, PPDPFL, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, HAS2-AS1, DEFB135, DEFB136, DEFB134, ZNF704, MBOAT4, SNHG6, SNORD87, MROH6, SCX, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, MIR661, MROH1, DEFA1B, ZNF705D, OC90, TCF24, LOC100130232, CCDC166, LRRC69, ZNF705G, ZNF705B, DEFB4B, MIR1234, LINC01602, C8orf17, SMIM18, C8orf44-SGK3, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, RDH10-AS1, UBR5-AS1, LOC101929066
See casesPathogenic
(Mar 5, 2015)
no assertion criteria provided
43.
GRCh37:
Chr8:158049-146295771
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, NOV, 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, WISP1, 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, RGS22, FBXL6, FBXO25, FGF20, 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, FAM49B, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, IMPAD1, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, 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, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, 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, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, ZNF572, GOT1L1, FAM92A, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, PEBP4, CDCA2, TMEM65, RDH10, ANKRD46, ESCO2, FBXO16, FAM84B, C8orf37, VPS13B, 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, C8orf46, XKR6, NSMCE2, ZNF707, FAM83H, MICU3, C8orf31, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, SPATC1, USP17L2, CA13, XKR5, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, C8orf59, SAMD12, MIR124-1, MIR320A, DEFB103A, C8orf82, AARD, LRRC24, PPDPFL, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, HAS2-AS1, DEFB135, DEFB136, DEFB134, ZNF704, MBOAT4, SNHG6, SNORD87, MROH6, SCX, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, MIR661, MROH1, DEFA1B, ZNF705D, OC90, TCF24, LOC100130232, CCDC166, LRRC69, ZNF705G, ZNF705B, DEFB4B, MIR1234, LINC01602, C8orf17, SMIM18, C8orf44-SGK3, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, RDH10-AS1, UBR5-AS1, LOC101929066
See casesPathogenic
(Sep 9, 2015)
no assertion criteria provided
44.
GRCh37:
Chr8:93047482-141355635
See casesPathogenic
(Aug 1, 2014)
no assertion criteria provided
45.
GRCh37:
Chr8:106377557-107502955
ZFPM2, OXR1See casesUncertain significance
(Dec 31, 2014)
no assertion criteria provided
46.
GRCh37:
Chr8:86841228-142689874
See casesPathogenic
(Apr 22, 2014)
no assertion criteria provided
47.
GRCh37:
Chr8:98432250-146222672
ADCY8, ANGPT1, ANXA13, ATP6V1C1, ADGRB1, COX6C, CYC1, CYP11B1, CYP11B2, DPYS, EEF1D, EXT1, GLI4, GML, GPR20, GPT, GRINA, HAS2, HSF1, EIF3E, KCNQ3, KCNS2, LY6E, LY6H, MATN2, MYC, NDUFB9, TONSL, NOV, ODF1, TNFRSF11B, ENPP2, PLEC, POLR2K, POU5F1B, PTK2, PVT1, RAD21, RPL8, RPL30, ST3GAL1, SLA, SNTB1, SPAG1, SQLE, STK3, TAF2, TG, KLF10, TRHR, TRPS1, TSTA3, COL14A1, YWHAZ, ZNF7, ZNF16, PSCA, FZD6, LY6D, JRK, EIF3H, DGAT1, GPAA1, WISP1, FOXH1, EBAG9, RECQL4, LRRC14, EMC2, RIMS2, MTSS1, ZNF623, WASHC5, HHLA1, TRIB1, RIDA, NDRG1, COLEC10, KHDRBS3, POP1, PTP4A3, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, ARC, BOP1, ZFPM2, SCRIB, LRRC6, DCAF13, RNF19A, RGS22, FBXL6, OPLAH, PABPC1, KCNV1, MTBP, AGO2, COMMD5, MRPL13, ATAD2, ASAP1-IT1, CPSF1, LRP12, RRM2B, CYHR1, ASAP1, FAM135B, PHF20L1, ZNF706, VPS28, HGH1, KCNK9, THEM6, UBR5, FAM49B, AZIN1, CHRAC1, EXOSC4, LY6K, TRMT12, OXR1, WDYHV1, LAPTM4B, SLC39A4, SYBU, GSDMC, ENY2, SLURP1, SLC45A4, ZFAT, ZNF250, DEPTOR, PYCR3, LYNX1, DSCC1, DERL1, SLC52A2, GSDMD, NIPAL2, BAALC, ZNF696, GRHL2, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, SHARPIN, EPPK1, SCRT1, TRAPPC9, TATDN1, NCALD, MAF1, UTP23, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, MED30, ZNF251, KIFC2, MTDH, PKHD1L1, NAPRT, TBC1D31, MFSD3, MAL2, CSMD3, RHPN1, FBXO32, CTHRC1, OSR2, TOP1MT, ZNF572, ABRA, LYPD2, TMEM71, TMEM65, ANKRD46, FAM84B, VPS13B, TMEM74, FAM91A1, SLC30A8, COL22A1, SNX31, ADCK5, TSNARE1, ERICH5, MAPK15, NSMCE2, ZNF707, FAM83H, C8orf31, ZFP41, FBXO43, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, SPATC1, MROH5, MAFA, SAMD12, C8orf82, AARD, LRRC24, HAS2-AS1, MROH6, SCX, FER1L6, MIR661, MROH1, OC90, LOC100130232, CCDC166, MIR1234, C8orf17, ZHX1-C8orf76, PCAT1, LINC00536, UBR5-AS1
See casesPathogenicno assertion criteria provided
48.
GRCh37:
Chr8:158991-146280828
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, NOV, 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, WISP1, 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, RGS22, FBXL6, FBXO25, FGF20, 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, FAM49B, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, IMPAD1, TMEM70, PINX1, TRMT12, OXR1, WDYHV1, PIWIL2, ELP3, THAP1, ARMC1, INTS10, CCDC25, UBE2W, BRF2, AGPAT5, LAPTM4B, 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, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, MCPH1, PPP1R3B, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, NUDT18, ZNF696, GRHL2, DOCK5, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, REEP4, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, STMN4, RNF170, SLCO5A1, SHARPIN, EPPK1, SCRT1, SOX7, FAM167A, SLC35G5, 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, RP1L1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CLDN23, ZNF572, GOT1L1, FAM92A, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, PEBP4, CDCA2, TMEM65, RDH10, ANKRD46, ESCO2, FBXO16, FAM84B, C8orf37, VPS13B, 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, C8orf46, XKR6, NSMCE2, ZNF707, FAM83H, MICU3, C8orf31, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, SPATC1, USP17L2, CA13, XKR5, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, C8orf59, SAMD12, MIR124-1, MIR320A, DEFB103A, C8orf82, AARD, LRRC24, PPDPFL, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, HAS2-AS1, DEFB135, DEFB136, DEFB134, ZNF704, MBOAT4, SNHG6, SNORD87, MROH6, SCX, USP17L4, USP17L3, FABP9, FABP12, FAM86B2, SPAG11A, FER1L6, MIR661, MROH1, DEFA1B, ZNF705D, OC90, TCF24, LOC100130232, CCDC166, LRRC69, ZNF705G, ZNF705B, DEFB4B, MIR1234, LINC01602, C8orf17, SMIM18, C8orf44-SGK3, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, RDH10-AS1, UBR5-AS1, LOC101929066
See casesPathogenicno assertion criteria provided
49.
GRCh37:
Chr8:86778228-146295771
GRCh38:
Chr8:85765999-145070385
ADCY8, ANGPT1, ANXA13, ATP6V1C1, ADGRB1, OSGIN2, CALB1, RUNX1T1, CDH17, COX6C, CYC1, CYP11B1, CYP11B2, DECR1, DPYS, EEF1D, EXT1, GEM, GLI4, GML, GPR20, GPT, GRINA, HAS2, HSF1, EIF3E, KCNQ3, KCNS2, LY6E, LY6H, MATN2, MMP16, MYC, NBN, NDUFB9, TONSL, NOV, ODF1, TNFRSF11B, ENPP2, PLEC, POLR2K, POU5F1B, PTK2, PVT1, RAD21, RPL8, RPL30, SDC2, ST3GAL1, SLA, SNTB1, SPAG1, SQLE, STK3, TAF2, TG, KLF10, TRHR, TRPS1, TSTA3, COL14A1, UQCRB, YWHAZ, ZNF7, ZNF16, PSCA, FZD6, LY6D, JRK, EIF3H, DGAT1, GPAA1, RIPK2, WISP1, CPNE3, FOXH1, CCNE2, EBAG9, RECQL4, LRRC14, EMC2, RIMS2, MTSS1, PTDSS1, ZNF623, WASHC5, HHLA1, TRIB1, RIDA, NDRG1, CPQ, COLEC10, KHDRBS3, POP1, WWP1, PTP4A3, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, ARC, BOP1, ZFPM2, SCRIB, LRRC6, RAD54B, DCAF13, RNF19A, VIRMA, RGS22, FBXL6, SNORA72, OPLAH, PABPC1, KCNV1, MTBP, AGO2, COMMD5, MRPL13, ATAD2, ASAP1-IT1, CPSF1, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, FAM135B, PHF20L1, RMDN1, ZNF706, VPS28, HGH1, KCNK9, THEM6, UBR5, FAM49B, AZIN1, OTUD6B, CHRAC1, EXOSC4, PDP1, CNGB3, LY6K, ESRP1, TRMT12, OXR1, WDYHV1, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, SYBU, INTS8, GSDMC, ENY2, SLURP1, SLC45A4, ZFAT, ZNF250, NECAB1, DEPTOR, PYCR3, C8orf33, LYNX1, RHPN1-AS1, DSCC1, DERL1, SLC52A2, PLEKHF2, GSDMD, NIPAL2, BAALC, ZNF696, GRHL2, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, SHARPIN, EPPK1, SCRT1, TRAPPC9, TATDN1, NCALD, MAF1, UTP23, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, TSPYL5, PSKH2, MED30, ZNF251, KIFC2, TMEM67, MTDH, PKHD1L1, NAPRT, TBC1D31, HPYR1, TP53INP1, MFSD3, MAL2, CSMD3, RHPN1, FBXO32, SLC26A7, CTHRC1, OSR2, TOP1MT, CCDC26, ZNF572, FAM92A, NDUFAF6, ABRA, LYPD2, TMEM71, DCAF4L2, FER1L6-AS2, TMEM65, LINC00964, BAALC-AS2, ANKRD46, FAM84B, C8orf37, VPS13B, SLC7A13, TMEM74, FAM91A1, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ADCK5, TSNARE1, ERICH5, MAPK15, ATP6V0D2, NSMCE2, ZNF707, BREA2, FAM83H, LINC01591, ZNF252P-AS1, C8orf31, ZFP41, TRIQK, DPY19L4, FBXO43, GPIHBP1, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, SPATC1, LINC01181, C8orf87, RBM12B, MROH5, MAFA, GDF6, SMPD5, GASAL1, SAMD12, LOC401478, MIR30B, MIR30D, C8orf82, FER1L6-AS1, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, NCRNA00250, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, LINC01298, LINC00051, TMEM75, MROH6, IQANK1, SCX, LINC00535, RAD21-AS1, FER1L6, MIR548A3, MIR548D1, MIR599, MIR661, CASC8, MROH1, LINC00977, OC90, LINC01300, MIR875, MIR937, MIR939, C8orf88, FAM83H-AS1, LINC00861, LOC100130232, CCDC166, LRRC69, FAM83A-AS1, LOC100132813, LY6E-DT, TRM-CAT1-1, TRS-AGA2-5, CASC11, TONSL-AS1, LOC100288181, LOC100288748, MIR1302-7, MIR1205, MIR1273A, MIR1206, MIR1207, MIR1204, MIR1234, MIR2053, MIR1208, MIR3150A, MIR3151, BAALC-AS1, MIR3686, MIR548AA1, MIR3150B, MIR3610, OTUD6B-AS1, AZIN1-AS1, CCAT1, ASAP1-IT2, C8orf17, MINCR, ZHX1-C8orf76, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4471, C8orf37-AS1, PCAT1, MIR5680, MIR5194, LINC00536, FSBP, LINC00534, CCAT2, PRNCR1, LOC101927066, UBR5-AS1, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, LOC101927657, LINC00824, LOC101927798, LOC101927822, LOC101927845, LOC101927915, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929709, LINC01030, MIR6846, MIR6847, MIR6848, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, ZFPM2-AS1, LOC102724710, LOC102724804, CASC21, CASC19, PCAT2, LOC104054148, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02055
See casesPathogenic
(Oct 22, 2013)
no assertion criteria provided
50.
GRCh37:
Chr8:176452-146294098
GRCh38:
Chr8:226452-145068712
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, NOV, 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, WISP1, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, 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, FAM49B, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, IMPAD1, 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, FAM92A, 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, LINC00599, FAM84B, 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, C8orf46, LOC254896, XKR6, NSMCE2, ZNF707, BREA2, 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, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, SMPD5, LOC401442, USP17L1, LOC401463, C8orf59, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, 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, UG0898H09, 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, TCF24, 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, LOC100288181, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, 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, LINC00681, YTHDF3-AS1, CCAT2, CASC9, PRNCR1, LOC101926892, LOC101926908, RDH10-AS1, LINC01617, LINC01111, PKIA-AS1, LOC101927040, LOC101927066, LINC01607, LOC101927141, UBR5-AS1, 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, 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, LOC102724623, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105369147, MIR3150BHG, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, SMILR, LOC105375744, LOC105375773, LOC105375787, LOC105375843, CERNA3, FAM85B, LOC105379393, SNORA99, LINC02055
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
51.
GRCh37:
Chr8:104318564-146294098
GRCh38:
Chr8:103306336-145068712
ADCY8, ANGPT1, ANXA13, ADGRB1, CYC1, CYP11B1, CYP11B2, DPYS, EEF1D, EXT1, GLI4, GML, GPR20, GPT, GRINA, HAS2, HSF1, EIF3E, KCNQ3, LY6E, LY6H, MYC, NDUFB9, TONSL, NOV, TNFRSF11B, ENPP2, PLEC, POU5F1B, PTK2, PVT1, RAD21, RPL8, ST3GAL1, SLA, SNTB1, SQLE, TAF2, TG, TRHR, TRPS1, TSTA3, COL14A1, ZNF7, ZNF16, PSCA, FZD6, LY6D, JRK, EIF3H, DGAT1, GPAA1, WISP1, FOXH1, EBAG9, RECQL4, LRRC14, EMC2, RIMS2, MTSS1, ZNF623, WASHC5, HHLA1, TRIB1, NDRG1, COLEC10, KHDRBS3, PTP4A3, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, ARC, BOP1, ZFPM2, SCRIB, LRRC6, DCAF13, FBXL6, OPLAH, KCNV1, MTBP, AGO2, COMMD5, MRPL13, ATAD2, ASAP1-IT1, CPSF1, LRP12, CYHR1, ASAP1, FAM135B, PHF20L1, VPS28, HGH1, KCNK9, THEM6, FAM49B, CHRAC1, EXOSC4, LY6K, TRMT12, OXR1, WDYHV1, SLC39A4, SYBU, GSDMC, ENY2, SLURP1, SLC45A4, ZFAT, ZNF250, DEPTOR, PYCR3, C8orf33, LYNX1, RHPN1-AS1, DSCC1, DERL1, SLC52A2, GSDMD, ZNF696, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, SHARPIN, EPPK1, SCRT1, TRAPPC9, TATDN1, MAF1, UTP23, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, MED30, ZNF251, KIFC2, PKHD1L1, NAPRT, TBC1D31, HPYR1, MFSD3, MAL2, CSMD3, RHPN1, FBXO32, CTHRC1, TOP1MT, CCDC26, ZNF572, ABRA, LYPD2, TMEM71, FER1L6-AS2, TMEM65, LINC00964, FAM84B, TMEM74, FAM91A1, SLC30A8, COL22A1, ADCK5, TSNARE1, MAPK15, NSMCE2, ZNF707, BREA2, FAM83H, LINC01591, ZNF252P-AS1, C8orf31, ZFP41, GPIHBP1, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, SPATC1, MROH5, MAFA, SMPD5, SAMD12, LOC401478, MIR30B, MIR30D, C8orf82, FER1L6-AS1, AARD, LRRC24, MIR151A, NCRNA00250, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, LINC00051, TMEM75, MROH6, IQANK1, SCX, RAD21-AS1, FER1L6, MIR548A3, MIR548D1, MIR661, CASC8, MROH1, LINC00977, OC90, LINC01300, MIR937, MIR939, FAM83H-AS1, LINC00861, LOC100130232, CCDC166, FAM83A-AS1, LOC100132813, LY6E-DT, TRM-CAT1-1, CASC11, TONSL-AS1, LOC100288181, MIR1302-7, MIR1205, MIR1206, MIR1207, MIR1204, MIR1234, MIR2053, MIR1208, MIR3686, MIR548AA1, MIR3610, CCAT1, ASAP1-IT2, C8orf17, MINCR, ZHX1-C8orf76, MIR4662A, MIR4662B, MIR4663, MIR4472-1, MIR4664, PCAT1, MIR5194, LINC00536, CCAT2, PRNCR1, LINC01608, LINC01609, LOC101927513, LOC101927543, LOC101927588, RNF139-AS1, LOC101927657, LINC00824, LOC101927798, LOC101927822, LOC101927845, LOC101927915, LOC101928087, LY6L, LOC101928160, LOC101928902, MIR6846, MIR6847, MIR6848, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7848, ZFPM2-AS1, CASC21, CASC19, PCAT2, LINC01151, MAFA-AS1, LOC105375690, LINC02237, LOC105375713, MAL2-AS1, SMILR, LOC105375744, LOC105375773, LOC105375787, LINC02055
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
52.
GRCh37:
Chr8:79526312-146280020
GRCh38:
Chr8:78614077-145054634
ADCY8, ANGPT1, ANXA13, ATP6V1C1, ADGRB1, OSGIN2, CA1, CA2, CA3, CALB1, RUNX1T1, CDH17, COX6C, CYC1, CYP11B1, CYP11B2, DECR1, DPYS, E2F5, EEF1D, EXT1, FABP4, FABP5, GEM, GLI4, GML, GPR20, GPT, GRINA, HAS2, HSF1, IL7, IMPA1, EIF3E, KCNQ3, KCNS2, LY6E, LY6H, MATN2, MMP16, MYC, NBN, NDUFB9, TONSL, NOV, ODF1, TNFRSF11B, ENPP2, PLEC, PMP2, POLR2K, POU5F1B, PTK2, PVT1, RAD21, RPL8, RPL30, SDC2, ST3GAL1, SLA, SNTB1, SPAG1, SQLE, STK3, TAF2, TG, KLF10, TPD52, TRHR, TRPS1, TSTA3, COL14A1, UQCRB, YWHAZ, ZNF7, ZNF16, PSCA, FZD6, LY6D, JRK, EIF3H, DGAT1, GPAA1, RIPK2, WISP1, CPNE3, FOXH1, CCNE2, EBAG9, RECQL4, LRRC14, EMC2, RIMS2, MTSS1, PTDSS1, ZNF623, WASHC5, HHLA1, TRIB1, RIDA, NDRG1, CPQ, COLEC10, KHDRBS3, POP1, WWP1, STMN2, PTP4A3, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, ARC, BOP1, ZFPM2, HEY1, SCRIB, LRRC6, RAD54B, DCAF13, RNF19A, VIRMA, RGS22, FBXL6, SNORA72, OPLAH, PABPC1, KCNV1, MTBP, AGO2, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, CPSF1, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, FAM135B, ZC2HC1A, PHF20L1, RMDN1, ZNF706, VPS28, HGH1, KCNK9, THEM6, UBR5, FAM49B, AZIN1, OTUD6B, CHRAC1, EXOSC4, PDP1, CNGB3, LY6K, ESRP1, TRMT12, OXR1, WDYHV1, LAPTM4B, RBM12B-AS1, PIP4P2, SLC39A4, SYBU, INTS8, PAG1, GSDMC, ENY2, SLURP1, SLC45A4, ZFAT, ZNF250, SNX16, NECAB1, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, RHPN1-AS1, DSCC1, DERL1, SLC52A2, PLEKHF2, ZFAND1, GSDMD, NIPAL2, BAALC, ZNF696, GRHL2, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, SHARPIN, EPPK1, SCRT1, TRAPPC9, TATDN1, NCALD, MAF1, UTP23, PARP10, C8orf76, TIGD5, NUDCD1, FAM83A, PPP1R16A, LRRCC1, TSPYL5, PSKH2, MED30, ZNF251, KIFC2, TMEM67, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, TP53INP1, MFSD3, MAL2, CSMD3, RHPN1, FBXO32, SLC26A7, CTHRC1, OSR2, TOP1MT, CCDC26, ZNF572, FAM92A, NDUFAF6, ABRA, LYPD2, TMEM71, DCAF4L2, RALYL, FER1L6-AS2, TMEM65, LINC00964, BAALC-AS2, ANKRD46, FAM84B, C8orf37, VPS13B, SLC7A13, TMEM74, FAM91A1, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, ADCK5, TSNARE1, ERICH5, MAPK15, ATP6V0D2, NSMCE2, ZNF707, BREA2, FAM83H, LINC01591, ZNF252P-AS1, C8orf31, ZFP41, TRIQK, DPY19L4, FBXO43, GPIHBP1, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, SLC10A5, SPATC1, CA13, LINC01181, C8orf87, RBM12B, MROH5, MAFA, GDF6, SMPD5, C8orf59, GASAL1, SAMD12, LOC401478, MIR30B, MIR30D, C8orf82, FER1L6-AS1, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, NCRNA00250, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, ZNF704, LINC01298, LINC00051, TMEM75, MROH6, IQANK1, SCX, LINC00535, RAD21-AS1, FABP9, FABP12, FER1L6,