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Items: 88

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:145699149
GRCh38:
Chr8:144473766
FOXH1, KIFC2HoloprosencephalyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr8:145699170
GRCh38:
Chr8:144473787
FOXH1, KIFC2HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr8:145699310
GRCh38:
Chr8:144473927
FOXH1, KIFC2HoloprosencephalyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr8:145699382-145699384
GRCh38:
Chr8:144473999-144474001
FOXH1, KIFC2HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr8:145699449
GRCh38:
Chr8:144474066
FOXH1, KIFC2HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr8:145699547
GRCh38:
Chr8:144474164
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:145699566
GRCh38:
Chr8:144474183
FOXH1HoloprosencephalyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:145699598
GRCh38:
Chr8:144474215
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr8:145699601
GRCh38:
Chr8:144474218
FOXH1not specified, HoloprosencephalyBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr8:145699642
GRCh38:
Chr8:144474259
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(May 2, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr8:145699664
GRCh38:
Chr8:144474281
FOXH1not specifiedUncertain significance
(Jan 31, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr8:145699670
GRCh38:
Chr8:144474287
FOXH1Holoprosencephaly sequenceUncertain significance
(May 1, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr8:145699686
GRCh38:
Chr8:144474303
FOXH1not specifiedUncertain significance
(Jul 5, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:145699695
GRCh38:
Chr8:144474312
FOXH1Holoprosencephaly sequenceUncertain significance
(Sep 11, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:145699735
GRCh38:
Chr8:144474352
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Likely benign
(Jul 5, 2017)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr8:145699786
GRCh38:
Chr8:144474403
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr8:145699807
GRCh38:
Chr8:144474424
FOXH1Holoprosencephaly sequenceBenign
(Sep 27, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:145699855
GRCh38:
Chr8:144474472
FOXH1not specifiedLikely benigncriteria provided, single submitter
19.
GRCh37:
Chr8:145699925
GRCh38:
Chr8:144474542
FOXH1Holoprosencephaly sequenceUncertain significance
(Nov 17, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr8:145699934
GRCh38:
Chr8:144474551
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:145699936
GRCh38:
Chr8:144474553
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Apr 12, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr8:145699948
GRCh38:
Chr8:144474565
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Jul 26, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr8:145699948
GRCh38:
Chr8:144474565
FOXH1not specified, HoloprosencephalyBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr8:145700066
GRCh38:
Chr8:144474683
FOXH1Holoprosencephaly sequenceUncertain significance
(Sep 25, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr8:145700098
GRCh38:
Chr8:144474715
FOXH1not specifiedUncertain significance
(Sep 19, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr8:145700142
GRCh38:
Chr8:144474759
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr8:145700190
GRCh38:
Chr8:144474807
FOXH1not specifiedUncertain significance
(Mar 3, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr8:145700220
GRCh38:
Chr8:144474837
FOXH1not specifiedUncertain significance
(May 7, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr8:145700269
GRCh38:
Chr8:144474886
FOXH1Holoprosencephaly sequence, not specifiedBenign
(Nov 10, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr8:145700277
GRCh38:
Chr8:144474894
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:145700330
GRCh38:
Chr8:144474947
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr8:145700346
GRCh38:
Chr8:144474963
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Jun 17, 2017)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr8:145700356
GRCh38:
Chr8:144474973
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Jun 12, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr8:145700358
GRCh38:
Chr8:144474975
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr8:145700381
GRCh38:
Chr8:144474998
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Apr 6, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr8:145700553
GRCh38:
Chr8:144475170
FOXH1Holoprosencephaly sequenceUncertain significance
(Sep 27, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:145700559
GRCh38:
Chr8:144475176
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr8:145701093
GRCh38:
Chr8:144475710
FOXH1Holoprosencephaly sequence, not specified, Holoprosencephaly
Benign/Likely benign
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr8:145701096
GRCh38:
Chr8:144475713
FOXH1not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr8:145701125
GRCh38:
Chr8:144475742
FOXH1Holoprosencephaly sequence, not specifiedConflicting interpretations of pathogenicity
(Mar 26, 2017)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr8:145701126
GRCh38:
Chr8:144475743
FOXH1not specifiedUncertain significance
(Jan 20, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr8:145701193
GRCh38:
Chr8:144475810
FOXH1HoloprosencephalyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr8:145701275
GRCh38:
Chr8:144475892
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr8:145701345
GRCh38:
Chr8:144475962
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr8:145701419
GRCh38:
Chr8:144476036
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr8:145701453
GRCh38:
Chr8:144476070
FOXH1HoloprosencephalyBenign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr8:145701472
GRCh38:
Chr8:144476089
FOXH1HoloprosencephalyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr8:145701585
GRCh38:
Chr8:144476202
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr8:145701645
GRCh38:
Chr8:144476262
FOXH1HoloprosencephalyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
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
51.
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
52.
GRCh37:
Chr8:114853126-146295771
See casesPathogenic
(Feb 5, 2015)
no assertion criteria provided
53.
GRCh37:
Chr8:136378789-146295771
See casesLikely pathogenic
(Nov 18, 2014)
no assertion criteria provided
54.
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
55.
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
56.
GRCh37:
Chr8:144779442-146113113
See casesUncertain significance
(Aug 1, 2014)
no assertion criteria provided
57.
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
58.
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
59.
GRCh37:
Chr8:134825277-146280828
See casesPathogenicno assertion criteria provided
60.
GRCh37:
Chr8:145603153-145811230
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr8:145600952-145834119
See casesUncertain significance
(Sep 21, 2015)
criteria provided, single submitter
62.
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
63.
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
64.
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
65.
GRCh37:
Chr8:79526312-146280020
GRCh38:
Chr8:78614077-145054634