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Items: 59

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr8:124553654
GRCh38:
Chr8:123541414
FBXO32not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001294709
2.
GRCh37:
Chr8:124543970
GRCh38:
Chr8:123531730
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001287926
3.
GRCh37:
Chr8:124516813
GRCh38:
Chr8:123504573
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001282066
4.
GRCh37:
Chr8:124526763
GRCh38:
Chr8:123514523
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001278480
5.
GRCh37:
Chr8:124525483
GRCh38:
Chr8:123513243
FBXO32not providedBenign
(May 4, 2021)
criteria provided, single submitterVCV001275067
6.
GRCh37:
Chr8:124525377
GRCh38:
Chr8:123513137
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001270505
7.
GRCh37:
Chr8:124526607
GRCh38:
Chr8:123514367
FBXO32not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001269899
8.
GRCh37:
Chr8:124547004
GRCh38:
Chr8:123534764
FBXO32N56Snot providedBenign
(May 4, 2021)
criteria provided, single submitterVCV001263810
9.
GRCh37:
Chr8:124518530
GRCh38:
Chr8:123506290
FBXO32not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001260578
10.
GRCh37:
Chr8:124553222
GRCh38:
Chr8:123540982
FBXO32not providedBenign
(May 4, 2021)
criteria provided, single submitterVCV001248513
11.
GRCh37:
Chr8:124553585
GRCh38:
Chr8:123541345
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001244104
12.
GRCh37:
Chr8:124517211
GRCh38:
Chr8:123504971
FBXO32not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001237383
13.
GRCh37:
Chr8:124553485
GRCh38:
Chr8:123541245
FBXO32not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001222891
14.
GRCh37:
Chr8:124515854
GRCh38:
Chr8:123503614
FBXO32not providedBenign
(May 11, 2021)
criteria provided, single submitterVCV001222497
15.
GRCh37:
Chr8:124516936-124516938
GRCh38:
Chr8:123504696-123504698
FBXO32K150del, K202del, K295delOMIM: 606604Likely pathogeniccriteria provided, single submitterVCV001188824
16.
GRCh37:
Chr8:121938227-125485728
not providedUncertain significance
(Nov 12, 2020)
no assertion criteria providedVCV000992643
17.
GRCh37:
Chr8:121042467-146295771
not providedPathogenic
(Oct 10, 2018)
no assertion criteria providedVCV000815163
18.
GRCh37:
Chr8:124518695
GRCh38:
Chr8:123506455
FBXO32not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000785262
19.
GRCh37:
Chr8:124516883
GRCh38:
Chr8:123504643
FBXO32not providedBenign
(May 16, 2018)
criteria provided, single submitterVCV000745685
20.
GRCh37:
Chr8:124518686
GRCh38:
Chr8:123506446
FBXO32not providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000736279
21.
GRCh37:
Chr8:124525546
GRCh38:
Chr8:123513306
FBXO32not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV000709348
22.
GRCh37:
Chr8:122193546-146295771
not providedPathogenic
(Nov 13, 2017)
no assertion criteria providedVCV000689071
23.
GRCh37:
Chr8:158048-146295771
ADGRA2, EIF4EBP1, ELOC, MIR661, RUNX1T1, SAMD12, ZFHX4, ZFP41, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF251, SARAF, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, MRPL13, MRPL15, SBSPON, SCARA3, SCARA5, SCRIB, ZNF250, ZNF34, ZNF395, MMP16, MOS, MRPS28, MSC, MROH1, MROH5, MSR1, MSRA, MROH6, MTBP, MTDH, ELP3, EMC2, ESRP1, EXOSC4, FAM110B, ENPP2, ENTPD4, ERI1, ERICH1, FABP5, FABP9, ENY2, EPHX2, EPPK1, ERICH5, ERLIN2, ESCO2, ADGRB1, ADHFE1, ADRA1A, ARHGAP39, ADRB3, AGO2, AGPAT5, ALKAL1, ANGPT1, ANGPT2, AP3M2, ARC, ARFGEF1, ARHGEF10, ANK1, ANKRD46, ANXA13, AARD, ABRA, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAG4, BHLHE22, BIN3, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, C8orf86, CA1, CA13, CA2, CA3, CA8, CALB1, CCAR2, CCDC166, CCDC25, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CFAP418, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CLDN23, CLN8, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, 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, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DLGAP2, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EXT1, EXTL3, EYA1, FABP12, FABP4, FAM135B, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HR, HSF1, HTRA4, IDO1, IDO2, IKBKB, IL7, IMPA1, INTS10, INTS8, INTS9, JPH1, JRK, KAT6A, KBTBD11, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00293, LINC00536, LINC01602, LINC02904, LINC02906, LOC100130232, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6H, LY6K, LY96, LYN, LYNX1, LYPD2, LYPLA1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MED30, MIR320A, MFHAS1, MFSD3, MICU3, MIR1234, MIR124-1, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PIP4P2, PIWIL2, PKHD1L1, PKIA, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRDM14, PREX2, PRKDC, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBPMS, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF122, RNF139, RNF170, RNF19A, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RSPO2, SGCZ, SGK3, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SMIM18, SMIM19, SNAI2, SNHG6, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, ST18, ST3GAL1, STAR, STAU2, STC1, STK3, STMN2, STMN4, SULF1, SYBU, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRMT12, TRMT9B, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VPS13B, VPS28, VPS37A, VXN, WASHC5, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFPM2, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707
not providedPathogenic
(Sep 18, 2018)
no assertion criteria providedVCV000687787
24.
GRCh37:
Chr8:124120772-135265846
not providedPathogenic
(Jun 7, 2018)
no assertion criteria providedVCV000687747
25.
GRCh37:
Chr8:124443708-125305582
ANXA13, NTAQ1, FBXO32, FAM91A1, KLHL38, FER1L6not providedUncertain significance
(Aug 27, 2018)
no assertion criteria providedVCV000687511
26.
GRCh37:
Chr8:31936551-146295771
ADCY8, ADRB3, ANGPT1, ANK1, ANXA13, ASPH, ATP6V1C1, ADGRB1, OSGIN2, CA1, CA2, CA3, CA8, CALB1, RUNX1T1, CDH17, CEBPD, CHRNB3, COX6C, CRH, CYC1, CYP7A1, CYP11B1, CYP11B2, DECR1, DPYS, E2F5, EEF1D, EIF4EBP1, EXT1, EYA1, FABP4, FABP5, FGFR1, FNTA, ADAM2, GEM, GLI4, GML, NPBWR1, GPR20, GPT, GRINA, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, KCNS2, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MYBL1, MYC, NBN, NDUFB9, TONSL, CCN3, ODF1, TNFRSF11B, OPRK1, PDE7A, ENPP2, PENK, PLAG1, PLAT, PLEC, PMP2, POLB, POLR2K, POU5F1B, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, ST3GAL1, SLA, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, GFUS, TTPA, UBE2V2, COL14A1, UQCRB, VDAC3, YWHAZ, ZNF7, ZNF16, KAT6A, PSCA, FZD6, NSMAF, LY6D, RGS20, JRK, EIF3H, DGAT1, GPAA1, ADAM18, ADAM9, RIPK2, GGH, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, ASH2L, CCNE2, EBAG9, MSC, KCNB2, RECQL4, CYP7B1, BAG4, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, RB1CC1, ZNF623, WASHC5, HHLA1, TRIB1, RIDA, NDRG1, CPQ, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, POP1, AP3M2, COPS5, WWP1, STMN2, PTP4A3, ERLIN2, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, ZC3H3, EFR3A, RRS1, SULF1, ARC, BOP1, DDHD2, ZFPM2, HEY1, TRAM1, SCRIB, SPIDR, DNAAF11, LY96, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, VIRMA, RGS22, FBXL6, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CPSF1, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, HGH1, KCNK9, THEM6, UBR5, CYRIB, AZIN1, ATP6V1H, OTUD6B, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, ESRP1, NSD3, BPNT2, TMEM70, TRMT12, OXR1, NTAQ1, THAP1, ARMC1, UBE2W, BRF2, LAPTM4B, PIP4P2, SLC39A4, CHD7, SYBU, INTS8, PAG1, GSDMC, C8orf44, JPH1, TCIM, ENY2, CPA6, SLURP1, SLC45A4, ZFAT, ZNF250, PLEKHA2, PRDM14, SNX16, NECAB1, SOX17, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, DUSP26, DSCC1, DERL1, CHCHD7, SLC52A2, EFCAB1, PLEKHF2, ZMAT4, ZFAND1, ZFHX4, GSDMD, NIPAL2, RNF122, CSPP1, BAALC, ZNF696, GRHL2, VCPIP1, ZNF703, TTI2, RAB11FIP1, PREX2, ARHGAP39, ZNF34, SLC25A32, DCSTAMP, 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, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, ZNF572, GOT1L1, CIBAR1, NDUFAF6, TMEM68, ABRA, LYPD2, TMEM71, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, TMEM65, RDH10, ANKRD46, LRATD2, CFAP418, VPS13B, SLC7A13, TMEM74, FAM91A1, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, IDO2, SDR16C5, ADCK5, TSNARE1, HTRA4, ADAM32, ERICH5, MAPK15, ATP6V0D2, YTHDF3, VXN, NSMCE2, ZNF707, FAM83H, LINC02904, ZFP41, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, SLC10A5, SPATC1, CA13, C8orf86, ALKAL1, XKR9, LINC02906, RBM12B, MROH5, MAFA, GDF6, RBIS, SAMD12, C8orf82, AARD, LRRC24, PPDPFL, LINC00293, HAS2-AS1, ZNF704, SNHG6, SNORD87, MROH6, SCX, FABP9, FABP12, FER1L6, MIR661, MROH1, OC90, TCF24, LOC100130232, CCDC166, LRRC69, MIR1234, LINC01602, C8orf17, C8orf44-SGK3, ZHX1-C8orf76, PCAT1, LINC00536, FSBP, RDH10-AS1, UBR5-DT
not providedPathogenic
(Jul 25, 2018)
no assertion criteria providedVCV000687493
27.
GRCh37:
Chr8:123074293-131113892
not providedPathogenic
(Jul 26, 2018)
no assertion criteria providedVCV000687465
28.
GRCh37:
Chr8:164984-146293414
FHIP2B, 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, CIBAR1, 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, LRATD2, CFAP418, 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, VXN, XKR6, NSMCE2, ZNF707, FAM83H, MICU3, LINC02904, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, SPATC1, USP17L2, CA13, XKR5, NUGGC, C8orf86, ALKAL1, XKR9, LINC02906, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, RBIS, 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-DT, ASAH1-AS1, 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, GFUS, 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, DNAAF11, 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, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, NTAQ1, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000610618
29.
GRCh37:
Chr8:10213-146293414
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, FHIP2B, 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, CIBAR1, 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, LRATD2, CFAP418, 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, VXN, XKR6, NSMCE2, ZNF707, FAM83H, MICU3, LINC02904, ZFP41, SCARA5, TRIQK, DPY19L4, FBXO43, NKAIN3, PPP1R42, GPIHBP1, KLHL38, NRBP2, ZNF517, TMEM249, RSPO2, POTEA, PRSS51, SLC10A5, SPATC1, USP17L2, CA13, XKR5, NUGGC, C8orf86, ALKAL1, XKR9, LINC02906, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, RBIS, SAMD12, MIR124-1, MIR320A, DEFB103A, C8orf82, OR4F21, 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-DT, ASAH1-AS1, 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, GFUS, 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, DNAAF11, 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, CYRIB, AZIN1, ATP6V1H, OTUD6B, SARAF, CHRAC1, SNTG1, GDAP1, EXOSC4, PDP1, CNGB3, LY6K, KCTD9, ESRP1, NSD3, BPNT2, TMEM70, PINX1, TRMT12, OXR1, NTAQ1, PIWIL2, ELP3, THAP1, ARMC1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000610612
30.
GRCh37:
Chr8:114508086-129040004
Trichorhinophalangeal dysplasia type IPathogenic
(Dec 17, 2018)
criteria provided, single submitterVCV000599306
31.
GRCh37:
Chr8:121694649-146295771
not providedPathogenic
(Nov 29, 2017)
no assertion criteria providedVCV000563555
32.
GRCh37:
Chr8:86841154-146295771
AARD, ABRA, ADCK5, ADCY8, ADGRB1, AGO2, ANGPT1, ANKRD46, ANXA13, ARC, ARHGAP39, ASAP1, ASAP1-IT1, ATAD2, ATP6V0D2, ATP6V1C1, AZIN1, BAALC, BOP1, C8orf17, C8orf33, C8orf76, C8orf82, CALB1, CCDC166, CCN3, CCN4, CCNE2, CDH17, CFAP418, CHRAC1, CIBAR1, CNBD1, CNGB3, COL14A1, COL22A1, COLEC10, COMMD5, COX6C, CPNE3, CPQ, CPSF1, CSMD3, CTHRC1, CYC1, CYHR1, CYP11B1, CYP11B2, CYRIB, DCAF13, DCAF4L2, DCSTAMP, DECR1, DENND3, DEPTOR, DERL1, DGAT1, DNAAF11, DPY19L4, DPYS, DSCC1, EBAG9, EEF1D, EFR3A, EIF3E, EIF3H, EMC2, ENPP2, ENY2, EPPK1, ERICH5, ESRP1, EXOSC4, EXT1, FAM135B, FAM83A, FAM83H, FAM91A1, FBXL6, FBXO32, FBXO43, FER1L6, FOXH1, FSBP, FZD6, GDF6, GEM, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, HAS2, HAS2-AS1, HGH1, HHLA1, HSF1, INTS8, JRK, KCNK9, KCNQ3, KCNS2, KCNV1, KHDRBS3, KIFC2, KLF10, KLHL38, LAPTM4B, LINC00536, LINC02904, LINC02906, LOC100130232, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LY6D, LY6E, LY6H, LY6K, LYNX1, LYPD2, MAF1, MAFA, MAL2, MAPK15, MATN2, MED30, MFSD3, MIR1234, MIR661, MMP16, MROH1, MROH5, MROH6, MRPL13, MTBP, MTDH, MTERF3, MTSS1, MYC, NAPRT, NBN, NCALD, NDRG1, NDUFAF6, NDUFB9, NECAB1, NIPAL2, NRBP2, NSMCE2, NTAQ1, NUDCD1, OC90, ODF1, OPLAH, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PARP10, PCAT1, PDP1, PHF20L1, PIP4P2, PKHD1L1, PLEC, PLEKHF2, POLR2K, POP1, POU5F1B, PPP1R16A, PSCA, PSKH2, PTDSS1, PTK2, PTP4A3, PUF60, PVT1, PYCR3, RAD21, RAD54B, RBM12B, RECQL4, RGS22, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF139, RNF19A, RPL30, RPL8, RRM2B, RSPO2, RUNX1T1, SAMD12, SCRIB, SCRT1, SCX, SDC2, SHARPIN, SLA, SLC25A32, SLC26A7, SLC30A8, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLURP1, SNTB1, SNX31, SPAG1, SPATC1, SQLE, ST3GAL1, STK3, SYBU, TAF2, TATDN1, TBC1D31, TG, THEM6, TIGD5, TMEM249, TMEM64, TMEM65, TMEM67, TMEM71, TMEM74, TNFRSF11B, TONSL, TOP1MT, TP53INP1, TRAPPC9, TRHR, TRIB1, TRIQK, TRMT12, TRPS1, TSNARE1, TSPYL5, UBR5, UBR5-DT, UQCRB, UTP23, VIRMA, VPS13B, VPS28, WASHC5, WWP1, YWHAZ, ZC3H3, ZFAT, ZFP41, ZFPM2, ZHX1, ZHX1-C8orf76, ZHX2, ZNF16, ZNF250, ZNF251, ZNF34, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF706, ZNF707
See casesPathogenic
(Mar 26, 2015)
no assertion criteria providedVCV000443924
33.
GRCh37:
Chr8:12490999-146295771
AARD, ABRA, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCK5, ADCY8, ADGRA2, ADGRB1, ADHFE1, ADRA1A, ADRB3, AGO2, ALKAL1, ANGPT1, ANK1, ANKRD46, ANXA13, AP3M2, ARC, ARFGEF1, ARHGAP39, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAG4, BHLHE22, BIN3, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf76, C8orf82, C8orf86, CA1, CA13, CA2, CA3, CA8, CALB1, CCAR2, CCDC166, CCDC25, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CFAP418, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRH, CRISPLD1, CSGALNACT1, CSMD3, CSPP1, CTHRC1, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7A1, CYP7B1, CYRIB, DCAF13, DCAF4L2, DCSTAMP, DCTN6, DDHD2, DECR1, DENND3, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM83A, FAM83H, FAM91A1, FBXL6, FBXO16, FBXO32, FBXO43, FER1L6, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HR, HSF1, HTRA4, IDO1, IDO2, IKBKB, IL7, IMPA1, INTS10, INTS8, INTS9, JPH1, JRK, KAT6A, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00293, LINC00536, LINC01602, LINC02904, LINC02906, LOC100130232, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6H, LY6K, LY96, LYN, LYNX1, LYPD2, LYPLA1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MED30, MFSD3, MICU3, MIR1234, MIR320A, MIR661, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSR1, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTSS1, MTUS1, MYBL1, MYC, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NIPAL2, NKAIN3, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PI15, PIP4P2, PIWIL2, PKHD1L1, PKIA, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRDM14, PREX2, PRKDC, PSCA, PSD3, PSKH2, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBPMS, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF122, RNF139, RNF170, RNF19A, RP1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RSPO2, RUNX1T1, SAMD12, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SMIM18, SMIM19, SNAI2, SNHG6, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SPAG1, SPATC1, SPIDR, SQLE, ST18, ST3GAL1, STAR, STAU2, STC1, STK3, STMN2, STMN4, SULF1, SYBU, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRMT12, TRMT9B, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, UTP23, VCPIP1, VDAC3, VIRMA, VPS13B, VPS28, VPS37A, VXN, WASHC5, WRN, WWP1, XKR4, XKR9, XPO7, YTHDF3, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFHX4, ZFP41, ZFPM2, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF34, ZNF395, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF706, ZNF707
See casesPathogenic
(Aug 15, 2014)
no assertion criteria providedVCV000443619
34.
GRCh37:
Chr8:114853126-146295771
See casesPathogenic
(Feb 5, 2015)
no assertion criteria providedVCV000442692
35.
GRCh37:
Chr8:158049-146295771
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, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAG4, BHLHE22, BIN3, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, C8orf86, CA1, CA13, CA2, CA3, CA8, CALB1, CCAR2, CCDC166, CCDC25, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CFAP418, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CLDN23, CLN8, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, 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, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DLGAP2, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERI1, ERICH1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HR, HSF1, HTRA4, IDO1, IDO2, IKBKB, IL7, IMPA1, INTS10, INTS8, INTS9, JPH1, JRK, KAT6A, KBTBD11, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00293, LINC00536, LINC01602, LINC02904, LINC02906, LOC100130232, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6H, LY6K, LY96, LYN, LYNX1, LYPD2, LYPLA1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MED30, MFHAS1, MFSD3, MICU3, MIR1234, MIR124-1, MIR320A, MIR661, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSR1, MSRA, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PIP4P2, PIWIL2, PKHD1L1, PKIA, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRDM14, PREX2, PRKDC, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBPMS, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF122, RNF139, RNF170, RNF19A, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RSPO2, RUNX1T1, SAMD12, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SMIM18, SMIM19, SNAI2, SNHG6, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, ST18, ST3GAL1, STAR, STAU2, STC1, STK3, STMN2, STMN4, SULF1, SYBU, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRMT12, TRMT9B, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VPS13B, VPS28, VPS37A, VXN, WASHC5, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFHX4, ZFP41, ZFPM2, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707
See casesPathogenic
(Mar 5, 2015)
no assertion criteria providedVCV000442201
36.
GRCh37:
Chr8:158049-146295771
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, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAH1-AS1, ASAP1, ASAP1-IT1, ASH2L, ASPH, ATAD2, ATP6V0D2, ATP6V1B2, ATP6V1C1, ATP6V1H, AZIN1, BAALC, BAG4, BHLHE22, BIN3, BLK, BMP1, BNIP3L, BOP1, BPNT2, BRF2, C8orf17, C8orf33, C8orf34, C8orf44, C8orf44-SGK3, C8orf48, C8orf58, C8orf74, C8orf76, C8orf82, C8orf86, CA1, CA13, CA2, CA3, CA8, CALB1, CCAR2, CCDC166, CCDC25, CCN3, CCN4, CCNE2, CDCA2, CDH17, CEBPD, CFAP418, CHCHD7, CHD7, CHMP4C, CHMP7, CHRAC1, CHRNA2, CHRNA6, CHRNB3, CIBAR1, CLDN23, CLN8, CLU, CLVS1, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COLEC10, COMMD5, COPS5, COX6C, CPA6, CPNE3, CPQ, CPSF1, 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, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DENND3, DEPTOR, DERL1, DGAT1, DKK4, DLC1, DLGAP2, DMTN, DNAAF11, DNAJC5B, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP26, DUSP4, E2F5, EBAG9, EBF2, EEF1D, EFCAB1, EFR3A, EGR3, EIF3E, EIF3H, EIF4EBP1, ELOC, ELP3, EMC2, ENPP2, ENTPD4, ENY2, EPHX2, EPPK1, ERI1, ERICH1, ERICH5, ERLIN2, ESCO2, ESRP1, EXOSC4, EXT1, EXTL3, EYA1, FABP12, FABP4, FABP5, FABP9, FAM110B, FAM135B, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXL6, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FOXH1, FSBP, FUT10, FZD3, FZD6, GATA4, GDAP1, GDF6, GEM, GFRA2, GFUS, GGH, GINS4, GLI4, GML, GNRH1, GOLGA7, GOT1L1, GPAA1, GPAT4, GPIHBP1, GPR20, GPT, GRHL2, GRINA, GSDMC, GSDMD, GSR, GTF2E2, HAS2, HAS2-AS1, HEY1, HGH1, HGSNAT, HHLA1, HMBOX1, HNF4G, HOOK3, HR, HSF1, HTRA4, IDO1, IDO2, IKBKB, IL7, IMPA1, INTS10, INTS8, INTS9, JPH1, JRK, KAT6A, KBTBD11, KCNB2, KCNK9, KCNQ3, KCNS2, KCNU1, KCNV1, KCTD9, KHDRBS3, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LETM2, LGI3, LINC00293, LINC00536, LINC01602, LINC02904, LINC02906, LOC100130232, LONRF1, LOXL2, LPL, LRATD2, LRP12, LRRC14, LRRC24, LRRC69, LRRCC1, LSM1, LY6D, LY6E, LY6H, LY6K, LY96, LYN, LYNX1, LYPD2, LYPLA1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MED30, MIR320A, MFHAS1, MFSD3, MICU3, MIR1234, MIR124-1, MIR661, MMP16, MOS, MROH1, MROH5, MROH6, MRPL13, MRPL15, MRPS28, MSC, MSR1, MSRA, MTBP, MTDH, MTERF3, MTFR1, MTMR7, MTMR9, MTSS1, MTUS1, MYBL1, MYC, MYOM2, NAPRT, NAT1, NAT2, NBN, NCALD, NCOA2, NDRG1, NDUFAF6, NDUFB9, NECAB1, NEFL, NEFM, NEIL2, NIPAL2, NKAIN3, NKX2-6, NKX3-1, NKX6-3, NPBWR1, NPM2, NRBP2, NRG1, NSD3, NSMAF, NSMCE2, NTAQ1, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OSGIN2, OSR2, OTUD6B, OXR1, PABPC1, PAG1, PARP10, PBK, PCAT1, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PDP1, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PI15, PINX1, PIP4P2, PIWIL2, PKHD1L1, PKIA, PLAG1, PLAT, PLEC, PLEKHA2, PLEKHF2, PLPBP, PLPP5, PMP2, PNMA2, PNOC, POLB, POLR2K, POLR3D, POMK, POP1, POTEA, POU5F1B, PPDPFL, PPP1R16A, PPP1R3B, PPP1R42, PPP2CB, PPP2R2A, PPP3CC, PRDM14, PREX2, PRKDC, PRSS51, PRSS55, PSCA, PSD3, PSKH2, PTDSS1, PTK2, PTK2B, PTP4A3, PUF60, PURG, PVT1, PXDNL, PYCR3, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RALYL, RB1CC1, RBIS, RBM12B, RBPMS, RDH10, RDH10-AS1, RECQL4, REEP4, RGS20, RGS22, RHOBTB2, RHPN1, RIDA, RIMS2, RIPK2, RMDN1, RNF122, RNF139, RNF170, RNF19A, RP1, RP1L1, RPL30, RPL7, RPL8, RPS20, RRM2B, RRS1, RSPO2, RUNX1T1, SAMD12, SARAF, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SCX, SDC2, SDCBP, SDR16C5, SFRP1, SFTPC, SGCZ, SGK3, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC26A7, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC52A2, SLC7A13, SLC7A2, SLCO5A1, SLURP1, SMIM18, SMIM19, SNAI2, SNHG6, SNORD87, SNTB1, SNTG1, SNX16, SNX31, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, SPIDR, SQLE, ST18, ST3GAL1, STAR, STAU2, STC1, STK3, STMN2, STMN4, SULF1, SYBU, TACC1, TAF2, TATDN1, TBC1D31, TCEA1, TCF24, TCIM, TDRP, TERF1, TEX15, TG, TGS1, THAP1, THEM6, TIGD5, TM2D2, TMEM249, TMEM64, TMEM65, TMEM67, TMEM68, TMEM70, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAM1, TRAPPC9, TRHR, TRIB1, TRIM35, TRIM55, TRIQK, TRMT12, TRMT9B, TRPA1, TRPS1, TSNARE1, TSPYL5, TTI2, TTPA, TUSC3, UBE2V2, UBE2W, UBR5, UBR5-DT, UBXN2B, UBXN8, UNC5D, UQCRB, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, UTP23, VCPIP1, VDAC3, VIRMA, VPS13B, VPS28, VPS37A, VXN, WASHC5, WRN, WWP1, XKR4, XKR5, XKR6, XKR9, XPO7, YTHDF3, YWHAZ, ZBTB10, ZC2HC1A, ZC3H3, ZDHHC2, ZFAND1, ZFAT, ZFHX4, ZFP41, ZFPM2, ZHX1, ZHX1-C8orf76, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF251, ZNF34, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF7, ZNF703, ZNF704, ZNF705B, ZNF705D, ZNF705G, ZNF706, ZNF707
See casesPathogenic
(Sep 9, 2015)
no assertion criteria providedVCV000442200
37.
GRCh37:
Chr8:93047482-141355635
See casesPathogenic
(Aug 1, 2014)
no assertion criteria providedVCV000441804
38.
GRCh37:
Chr8:86841228-142689874