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Items: 75

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
THAP1Dystonia 6, torsionPathogenic
(May 1, 2009)
no assertion criteria provided
2.
THAP1Dystonia 6, torsionPathogenic
(May 1, 2009)
no assertion criteria provided
3.
THAP1Dystonia 6, torsionPathogenic
(May 1, 2009)
no assertion criteria provided
4.
THAP1Dystonia 6, torsionPathogenic
(Mar 1, 2009)
no assertion criteria provided
5.
GRCh37:
Chr8:42338721-42916885
CHRNB3, FNTA, SLC20A2, CHRNA6, THAP1, RNF170, HOOK3, SMIM19Idiopathic basal ganglia calcification 1, Basal ganglia calcification, idiopathic, 3Likely pathogenicno assertion criteria provided
6.
GRCh37:
Chr8:42691855
GRCh38:
Chr8:42836712
THAP1DystoniaGMAF:0.00060(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:42691870
GRCh38:
Chr8:42836727
THAP1DystoniaGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr8:42691948
GRCh38:
Chr8:42836805
THAP1DystoniaGMAF:0.00640(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr8:42692073
GRCh38:
Chr8:42836930
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr8:42692106
GRCh38:
Chr8:42836963
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr8:42692302
GRCh38:
Chr8:42837159
THAP1DystoniaGMAF:0.07530(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr8:42692360
GRCh38:
Chr8:42837217
THAP1DystoniaGMAF:0.00680(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr8:42692419
GRCh38:
Chr8:42837276
THAP1DystoniaGMAF:0.01860(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:42692646
GRCh38:
Chr8:42837503
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr8:42692650
GRCh38:
Chr8:42837507
THAP1DystoniaGMAF:0.03140(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr8:42692671
GRCh38:
Chr8:42837528
THAP1DystoniaGMAF:0.03140(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr8:42692808
GRCh38:
Chr8:42837665
THAP1DystoniaGMAF:0.01700(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr8:42692825
GRCh38:
Chr8:42837682
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr8:42692860
GRCh38:
Chr8:42837717
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr8:42692915
GRCh38:
Chr8:42837772
THAP1DystoniaGMAF:0.00320(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:42692964
GRCh38:
Chr8:42837821
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr8:42692970
GRCh38:
Chr8:42837827
THAP1DystoniaGMAF:0.00700(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr8:42692978
GRCh38:
Chr8:42837835
THAP1DystoniaGMAF:0.00160(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:42692986
GRCh38:
Chr8:42837843
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr8:42693258
GRCh38:
Chr8:42838115
THAP1DystoniaGMAF:0.00140(C)
GO-ESP:0.00028(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr8:42693320
GRCh38:
Chr8:42838177
THAP1not specifiedGO-ESP:0.00007(C)Uncertain significance
(Jul 21, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr8:42694330
GRCh38:
Chr8:42839187
THAP1Dystonia 6, torsionPathogenic
(May 1, 2009)
no assertion criteria provided
28.
GRCh37:
Chr8:42694355
GRCh38:
Chr8:42839212
THAP1Dystonia 6, torsionPathogenic
(Mar 1, 2009)
no assertion criteria provided
29.
GRCh37:
Chr8:42698158
GRCh38:
Chr8:42843015
THAP1DystoniaGMAF:0.00120(T)
GO-ESP:0.00129(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr8:42698168
GRCh38:
Chr8:42843025
THAP1Dystonia 6, torsionPathogenic
(Feb 1, 2012)
no assertion criteria provided
31.
GRCh37:
Chr8:42698170
GRCh38:
Chr8:42843027
THAP1Dystonia 6, torsionPathogenic
(Feb 1, 2012)
no assertion criteria provided
32.
GRCh37:
Chr8:42698213
GRCh38:
Chr8:42843070
THAP1Dystonia 6, torsionPathogenic
(Jan 19, 2010)
no assertion criteria provided
33.
GRCh37:
Chr8:42698252
GRCh38:
Chr8:42843109
THAP1DystoniaGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr8:42698277
GRCh38:
Chr8:42843134
THAP1DystoniaGMAF:0.00060(G)
GO-ESP:0.00029(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr8:42698285
GRCh38:
Chr8:42843142
THAP1DystoniaGO-ESP:0.00012(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:42698338
GRCh38:
Chr8:42843195
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr8:42698348
GRCh38:
Chr8:42843205
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr8:42698406
GRCh38:
Chr8:42843263
THAP1DystoniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr8:42698473
GRCh38:
Chr8:42843330
THAP1DystoniaGMAF:0.00380(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr8:42698474
GRCh38:
Chr8:42843331
THAP1DystoniaGMAF:0.00380(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr8:42698477
GRCh38:
Chr8:42843334
THAP1DystoniaGMAF:0.00240(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr8:158048-43786723
NAT1, NAT2, ADRA1A, ADRB3, ANGPT2, ANK1, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CHRNB3, CLU, CTSB, DEFA1, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB4A, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, CLN8, EXTL3, PTK2B, FDFT1, FGFR1, FGL1, FNTA, ADAM2, GATA4, GFRA2, GNRH1, GSR, GTF2E2, GULOP, NRG1, IKBKB, IDO1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PLAT, PNOC, POLB, PPP2CB, PPP2R2A, PPP3CC, SFRP1, SFTPC, SLC7A2, SLC18A1, SLC20A2, STAR, STC1, TACC1, VDAC3, WRN, FZD3, TUSC3, UBXN8, KAT6A, TNKS, ADAM18, ADAM9, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, CHRNA6, DOK2, ASH2L, MTMR7, MYOM2, DLGAP2, MFHAS1, BAG4, ENTPD4, ARHGEF10, PHYHIP, KBTBD11, SORBS3, NPM2, DLC1, SPAG11B, DCTN6, PNMA2, ADAM28, AP3M2, RBPMS, ERLIN2, LZTS1, PLPBP, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FBXO25, FGF20, DKK4, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, NSD3, PINX1, PIWIL2, ELP3, THAP1, INTS10, CCDC25, BRF2, AGPAT5, INTS9, CSGALNACT1, HR, PBK, ZNF395, DEFB103B, BIN3, TEX15, C8orf4, MTUS1, KIAA1456, CCAR2, PLEKHA2, SH2D4A, PDLIM2, CSMD1, EBF2, FAM160B2, MTMR9, DUSP26, HMBOX1, MCPH1, PPP1R3B, ZMAT4, RNF122, NUDT18, DOCK5, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, RNF170, SOX7, FAM167A, SLC35G5, TM2D2, POMK, GINS4, HOOK3, PLPP5, MAK16, FUT10, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, SMIM19, CLDN23, GOT1L1, VPS37A, NKX2-6, SGCZ, GPAT4, UNC5D, LETM2, HGSNAT, DEFB104A, PEBP4, CDCA2, ESCO2, FBXO16, TDRP, ERICH1, TDH, C8orf48, NKX6-3, KCNU1, ZNF596, IDO2, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130, NEIL2, XKR6, MICU3, SCARA5, POTEA, PRSS51, USP17L2, XKR5, FAM90A3P, FAM90A15P, NUGGC, C8orf86, USP17L8, USP17L7, USP17L1, MIR124-1, MIR320A, DEFB103A, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, DEFB135, DEFB136, DEFB134, MBOAT4, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FAM86B2, SPAG11A, DEFA1B, FAM90A20P, FAM90A19P, ZNF705D, ZNF705G, ZNF705B, DEFB4B, SMIM18, LOC101929066
See casesPathogenicno assertion criteria provided
43.
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, GULOP, 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, KIAA1429, 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, TMEM55A, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, C8orf4, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, KIAA1456, 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, TDH, 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, DEFB130, 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, FAM90A3P, FAM90A15P, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, USP17L1, C8orf59, SAMD12, MIR124-1, MIR320A, DEFB103A, C8orf82, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, AARD, LRRC24, C8orf22, LINC00293, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, HAS2-AS1, DEFB135, DEFB136, DEFB134, ZNF704, MBOAT4, SNHG6, SNORD87, MROH6, SCX, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FABP9, FABP12, BTF3P12, FAM86B2, SPAG11A, FER1L6, MIR661, MROH1, DEFA1B, FAM90A20P, FAM90A19P, 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
44.
GRCh37:
Chr8:12580132-43388233
See casesPathogenicno assertion criteria provided
45.
GRCh37:
Chr8:40690198-43388233
See casesPathogenicno assertion criteria provided
46.
GRCh37:
Chr8:24772064-56509566
See casesUncertain significanceno assertion criteria provided
47.
GRCh37:
Chr8:12586413-43528350
GRCh38:
Chr8:12728904-43673207
NAT1, NAT2, ADRA1A, ADRB3, ANK1, ASAH1, ATP6V1B2, BMP1, POLR3D, BNIP3L, CHRNA2, CHRNB3, CLU, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, EXTL3, PTK2B, FGFR1, FGL1, FNTA, ADAM2, GFRA2, GNRH1, GSR, GTF2E2, GULOP, NRG1, IKBKB, IDO1, LOXL2, LPL, MSR1, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PLAT, PNOC, POLB, PPP2CB, PPP2R2A, PPP3CC, SFRP1, SFTPC, SLC7A2, SLC18A1, SLC20A2, STAR, STC1, TACC1, VDAC3, WRN, FZD3, TUSC3, UBXN8, KAT6A, ADAM18, ADAM9, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, CHRNA6, DOK2, ASH2L, MTMR7, BAG4, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, DCTN6, PNMA2, ADAM28, AP3M2, RBPMS, ERLIN2, LZTS1, PLPBP, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, DKK4, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, NSD3, PIWIL2, ELP3, THAP1, INTS10, CCDC25, BRF2, INTS9, CSGALNACT1, HR, PBK, ZNF395, BIN3, TEX15, C8orf4, MTUS1, KIAA1456, CCAR2, PLEKHA2, SH2D4A, PDLIM2, EBF2, FAM160B2, DUSP26, HMBOX1, ZMAT4, RNF122, NUDT18, DOCK5, BIN3-IT1, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, RNF170, TM2D2, POMK, GINS4, HOOK3, PLPP5, MAK16, FUT10, LONRF1, CHMP7, SMIM19, GOT1L1, VPS37A, NKX2-6, SGCZ, GPAT4, UNC5D, LETM2, HGSNAT, PEBP4, CDCA2, ESCO2, FBXO16, C8orf48, NKX6-3, KCNU1, IDO2, R3HCC1, HTRA4, ADAM32, LGI3, LOC254896, MICU3, LINC02153, SCARA5, LINC02209, LOC340357, POTEA, LOC389641, NUGGC, C8orf86, MIR320A, MIR383, C8orf58, LINC00589, MBOAT4, MIR486-1, SNORD13, RBPMS-AS1, LOC100128993, LOC100130964, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3622A, MIR3622B, LOC100507071, LOC100507156, SMIM18, LINC01605, MIR4469, MIR548AO, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929172, LOC101929237, LOC101929294, LOC101929315, EXTL3-AS1, LINC02099, LOC101929470, LOC101929550, LOC101929622, LOC101929897, MIR6841, MIR6842, MIR6843, MIR6876, MIR486-2, LOC102467222, LOC102723701, LOC102723729, LOC102725080, LINC01288, LOC105379393
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr8:191530-146280020
GRCh38:
Chr8:241530-145054634
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, GULOP, 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, KIAA1429, 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, TMEM55A, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, C8orf4, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, KIAA1456, 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, TDH, 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, DEFB130, 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, FAM90A3P, FAM90A15P, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, SMPD5, LOC401442, USP17L1, LOC401463, C8orf59, SAMD12, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, FER1L6-AS1, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, C8orf22, 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, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, UG0898H09, RAD21-AS1, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FABP9, FABP12, BTF3P12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, FAM90A20P, LINC00977, FAM90A19P, 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, LOC100133267, LOC100133669, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, 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, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, 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, LOC105375650, LOC105375690, LINC02237, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
49.
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, GULOP, 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, KIAA1429, 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, TMEM55A, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, C8orf4, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, KIAA1456, 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, TDH, 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, DEFB130, 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, FAM90A3P, FAM90A15P, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, SMPD5, LOC401442, USP17L1, LOC401463, C8orf59, SAMD12, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, FER1L6-AS1, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, C8orf22, 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, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, UG0898H09, RAD21-AS1, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FABP9, FABP12, BTF3P12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, FAM90A20P, LINC00977, FAM90A19P, 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, LOC100133267, LOC100133669, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, 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, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, 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, LOC105375650, LOC105375690, LINC02237, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
50.
GRCh37:
Chr8:39818050-43528350
GRCh38:
Chr8:39960531-43673207
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
51.
GRCh37:
Chr8:21149033-146295771
GRCh38:
Chr8:21291522-145070385
ADCY8, ADRA1A, ADRB3, ANGPT1, ANK1, ANXA13, ASPH, 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, FNTA, ADAM2, GEM, GFRA2, GLI4, GML, GNRH1, NPBWR1, GPR20, GPT, GRINA, GSR, GTF2E2, GULOP, HAS2, NRG1, HNF4G, HSF1, IKBKB, IL7, IMPA1, IDO1, EIF3E, KCNQ3, KCNS2, LOXL2, LY6E, LY6H, LYN, MATN2, MCM4, MMP16, MOS, MYBL1, MYC, NBN, NDUFB9, NEFM, NEFL, TONSL, NKX3-1, NOV, ODF1, TNFRSF11B, OPRK1, PDE7A, 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, 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, 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, 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, NDRG1, CPQ, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, LRRC6, LY96, SGK3, RAD54B, DCAF13, RNF19A, ADGRA2, KIAA1429, LINC00588, RGS22, FBXL6, RNU105C, SNORA72, SNORD54, OPLAH, PABPC1, KCNV1, STAU2, MTBP, DKK4, AGO2, LSM1, ADAMDEC1, BHLHE22, MRPS28, COMMD5, MRPL13, ATAD2, ASAP1-IT1, MRPL15, CPSF1, PURG, LRP12, RRM2B, CYHR1, ASAP1, MTERF3, PI15, FAM135B, ZC2HC1A, PHF20L1, LACTB2, RMDN1, ZNF706, GOLGA7, VPS28, 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, CCDC25, UBE2W, BRF2, LAPTM4B, RBM12B-AS1, TMEM55A, SLC39A4, CHD7, SYBU, INTS8, INTS9, HR, PAG1, PBK, ZNF395, BIN3, TEX15, GSDMC, C8orf44, JPH1, C8orf4, ENY2, CPA6, SLURP1, SLC45A4, ZFAT, CCAR2, ZNF250, PLEKHA2, PRDM14, SNX16, NECAB1, PDLIM2, SOX17, EBF2, FAM160B2, DEPTOR, PYCR3, C8orf33, ZBTB10, LYNX1, DUSP26, RHPN1-AS1, DSCC1, DERL1, CHCHD7, SLC52A2, HMBOX1, EFCAB1, 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, 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, CHMP7, MTDH, CHMP4C, PKHD1L1, NAPRT, TBC1D31, HPYR1, TP53INP1, TGS1, MFSD3, MAL2, XKR4, CSMD3, RHPN1, FBXO32, SMIM19, SLC26A7, PCMTD1, CTHRC1, OSR2, C8orf34, TOP1MT, CCDC26, ZNF572, GOT1L1, FAM92A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, PEBP4, CDCA2, FER1L6-AS2, TMEM65, LINC00964, RDH10, BAALC-AS2, ANKRD46, ESCO2, FBXO16, FAM84B, C8orf37, VPS13B, SLC7A13, TMEM74, FAM91A1, MCMDC2, CLVS1, NKX6-3, KCNU1, SBSPON, CNBD1, SLC30A8, COL22A1, SNX31, TMEM64, IDO2, SDR16C5, ADCK5, TSNARE1, R3HCC1, HTRA4, ADAM32, ERICH5, LGI3, MAPK15, ATP6V0D2, YTHDF3, C8orf46, LOC254896, NSMCE2, ZNF707, BREA2, FAM83H, LINC01591, ZNF252P-AS1, C8orf31, ZFP41, SCARA5, LINC02209, TRIQK, DPY19L4, FBXO43, LOC286177, LOC286178, NKAIN3, LINC01289, LINC01299, PPP1R42, C8orf34-AS1, LACTB2-AS1, GPIHBP1, KLHL38, NRBP2, ZNF517, WDR97, TMEM249, RSPO2, POTEA, SLC10A5, SPATC1, CA13, LINC01181, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, GDF6, SMPD5, LOC401463, C8orf59, SAMD12, MIR124-2, MIR30B, MIR30D, MIR320A, C8orf82, FER1L6-AS1, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, C8orf22, LINC00293, C8orf58, NCRNA00250, LINC00251, SAMD12-AS1, ZFAT-AS1, HAS2-AS1, ZNF704, LINC01298, LINC00589, MBOAT4, LINC00051, MIR486-1, TMEM75, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, UG0898H09, RAD21-AS1, FABP9, FABP12, BTF3P12, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR599, MIR661, CASC8, MROH1, LINC00977, OC90, LINC01300, MIR875, MIR937, MIR939, C8orf88, STAU2-AS1, FAM83H-AS1, RBPMS-AS1, LOC100129098, TCF24, MIR124-2HG, LINC00861, LOC100130232, CCDC166, LOC100130298, C8orf89, LRRC69, LOC100130964, FAM83A-AS1, LOC100132813, MSC-AS1, LOC100133669, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, TONSL-AS1, LOC100288181, LOC100288748, MIR1302-7, MIR1205, MIR1273A, MIR1206, MIR1207, MIR1204, MIR1234, MIR2053, MIR2052, MIR1208, MIR548H4, MIR4287, MIR3148, MIR4288, MIR3149, MIR3150A, MIR3151, BAALC-AS1, MIR3686, MIR3622A, MIR548AA1, MIR3622B, MIR3150B, MIR3610, LINC01602, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, LOC100507464, LINC00968, LINC01606, C8orf44-SGK3, ZHX1-C8orf76, MIR4469, MIR378D2, MIR4662A, MIR4661, MIR4662B, MIR4663, MIR4472-1, MIR4664, MIR4471, MIR4470, C8orf37-AS1, PCAT1, MIR5680, MIR5194, MIR5708, MIR5681A, MIR548AO, MIR5681B, NRG1-IT1, LINC00536, FSBP, LINC00534, NRG1-IT3, CA3-AS1, 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, LINC00824, LOC101927798, LOC101927822, LOC101927845, LOC101927915, LOC101928087, LY6L, LOC101928160, LOC101928902, LOC101929172, LOC101929217, LOC101929237, LOC101929268, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LINC02099, LOC101929470, LOC101929488, LOC101929528, LOC101929550, LOC101929622, LOC101929709, LOC101929897, LINC01030, MIR6841, MIR6842, MIR6843, MIR6846, MIR6847, MIR6848, MIR6876, MIR486-2, MIR7112, MIR6850, MIR548AZ, MIR6844, MIR6893, MIR6845, MIR6849, MIR7705, MIR7848, MIR8084, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LOC102724623, LOC102724708, LOC102724710, LOC102724804, LOC102724874, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, LINC01151, MAFA-AS1, LOC105375650, LOC105375690, LINC02237, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393
See casesPathogenic
(Aug 26, 2013)
no assertion criteria provided
52.
GRCh37:
Chr8:158048-146295771
GRCh38:
Chr8:208048-145070385
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, GULOP, 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, KIAA1429, 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, TMEM55A, SLC39A4, CHD7, SYBU, INTS8, INTS9, CSGALNACT1, HR, PAG1, PBK, ZNF395, DEFB103B, BIN3, TEX15, GSDMC, C8orf44, JPH1, C8orf4, ENY2, CPA6, SLURP1, SLC45A4, MTUS1, KIAA1456, 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, TDH, 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, DEFB130, 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, FAM90A3P, FAM90A15P, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, SMPD5, LOC401442, USP17L1, LOC401463, C8orf59, SAMD12, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, FER1L6-AS1, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, MIR2052HG, FLJ46284, FLJ42969, AARD, LRRC24, MIR151A, C8orf22, 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, SNHG6, SNORD87, MROH6, IQANK1, SCX, LINC00535, UG0898H09, RAD21-AS1, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FABP9, FABP12, BTF3P12, FAM86B2, SPAG11A, FER1L6, SNORD13, MIR548A3, MIR548D1, MIR596, MIR597, MIR598, MIR599, MIR661, CASC8, MROH1, DEFA1B, FAM90A20P, LINC00977, FAM90A19P, 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, LOC100133267, LOC100133669, TRY-GTA5-2, TRM-CAT1-1, TRS-AGA2-5, TRA-AGC8-2, TRY-GTA5-1, ZFHX4-AS1, CASC11, LOC100287015, TONSL-AS1, 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, LINC01301, LINC00967, RRS1-AS1, LINC01592, LINC01603, OTUD6B-AS1, AZIN1-AS1, LOC100506990, CCAT1, LOC100507071, ASAP1-IT2, LOC100507156, C8orf17, MINCR, SMIM18, LINC01605, DLGAP2-AS1, LOC100507464, 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, LOC105375650, LOC105375690, LINC02237, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenicno assertion criteria provided
53.
GRCh37:
Chr8:12503632-43541986
GRCh38:
Chr8:12646123-43686843