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Items: 100

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:41789764
GRCh38:
Chr8:41932246
KAT6Anot specifiedUncertain significance
(Sep 25, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr8:41789860
GRCh38:
Chr8:41932342
KAT6Anot specifiedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr8:41789998
GRCh38:
Chr8:41932480
KAT6Anot providedUncertain significance
(Aug 1, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr8:41790099
GRCh38:
Chr8:41932581
KAT6Anot providedPathogenic
(Jun 29, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr8:41790108
GRCh38:
Chr8:41932590
KAT6Anot providedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr8:41790183-41790192
GRCh38:
Chr8:41932665-41932674
KAT6Anot providedPathogenic
(Jan 8, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr8:41790213
GRCh38:
Chr8:41932695
KAT6AMental retardation, autosomal dominant 32Likely benignno assertion criteria provided
8.
GRCh37:
Chr8:41790481-41790490
GRCh38:
Chr8:41932963-41932972
KAT6Anot providedLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr8:41790786
GRCh38:
Chr8:41933268
KAT6Anot providedLikely benign
(Feb 20, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr8:41790919
GRCh38:
Chr8:41933401
KAT6Anot providedLikely pathogenic
(Sep 19, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr8:41791049-41791050
GRCh38:
Chr8:41933531-41933532
KAT6AMental retardation, autosomal dominant 32Likely pathogenic
(Apr 7, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr8:41791093
GRCh38:
Chr8:41933575
KAT6Anot providedPathogenic
(May 12, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr8:41791339
GRCh38:
Chr8:41933821
KAT6Anot providedLikely pathogenic
(Sep 28, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr8:41791357
GRCh38:
Chr8:41933839
KAT6Anot providedPathogenic
(Jan 4, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr8:41791377
GRCh38:
Chr8:41933859
KAT6Anot providedPathogenic
(Aug 22, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr8:41791414
GRCh38:
Chr8:41933896
KAT6Anot providedLikely benign
(Apr 18, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr8:41791446
GRCh38:
Chr8:41933928
KAT6Anot providedUncertain significance
(Nov 6, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr8:41791481-41791484
GRCh38:
Chr8:41933963-41933966
KAT6AMental retardation, autosomal dominant 32Pathogenic
(Nov 30, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr8:41791506-41791510
GRCh38:
Chr8:41933988-41933992
KAT6Anot providedPathogenic
(Apr 25, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr8:41791528
GRCh38:
Chr8:41934010
KAT6Anot providedPathogenic
(Nov 24, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr8:41791630
GRCh38:
Chr8:41934112
KAT6Anot provided, Mental retardation, autosomal dominant 32Uncertain significance
(Apr 8, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr8:41791713
GRCh38:
Chr8:41934195
KAT6Anot providedPathogenic
(Jul 19, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr8:41791756
GRCh38:
Chr8:41934238
KAT6Anot providedUncertain significance
(Oct 12, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr8:41791859
GRCh38:
Chr8:41934341
KAT6ASyndromic intellectual disability, Mental retardation, autosomal dominant 32Pathogenic
(Mar 5, 2015)
no assertion criteria provided
25.
GRCh37:
Chr8:41791871-41791873
GRCh38:
Chr8:41934353-41934355
KAT6Anot providedLikely benign
(Feb 6, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr8:41791907-41791908
GRCh38:
Chr8:41934389-41934390
KAT6Anot providedUncertain significance
(May 5, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr8:41791956
GRCh38:
Chr8:41934438
KAT6Anot providedPathogenic
(May 2, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr8:41791958
GRCh38:
Chr8:41934440
KAT6Anot providedPathogenic
(May 2, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr8:41791996
GRCh38:
Chr8:41934478
KAT6Anot providedLikely benign
(Aug 3, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr8:41792077
GRCh38:
Chr8:41934559
KAT6Anot providedPathogenic
(Jan 19, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr8:41792142
GRCh38:
Chr8:41934624
KAT6AMental retardation, autosomal dominant 32Likely pathogenic
(Jul 11, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr8:41792185
GRCh38:
Chr8:41934667
KAT6Anot providedPathogenic
(Mar 29, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr8:41792233
GRCh38:
Chr8:41934715
KAT6Anot provided, Mental retardation, autosomal dominant 32Pathogenic
(Oct 23, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr8:41792295
GRCh38:
Chr8:41934777
KAT6AMental retardation, autosomal dominant 32Pathogenic
(Mar 22, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr8:41792306
GRCh38:
Chr8:41934788
KAT6Anot providedPathogenic
(Apr 25, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr8:41792326
GRCh38:
Chr8:41934808
KAT6Anot providedPathogenic
(Oct 9, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr8:41792353
GRCh38:
Chr8:41934835
KAT6AKAT6A syndrome, Inborn genetic diseases, Mental retardation, autosomal dominant 32
Pathogenic
(Jun 28, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr8:41792385-41792388
GRCh38:
Chr8:41934867-41934870
KAT6Anot providedPathogenic
(Jun 30, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr8:41792386
GRCh38:
Chr8:41934868
KAT6Anot providedPathogenic
(Nov 11, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr8:41794914
GRCh38:
Chr8:41937396
KAT6Anot providedLikely pathogenic
(Sep 13, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr8:41794942
GRCh38:
Chr8:41937424
KAT6Anot providedLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr8:41794944
GRCh38:
Chr8:41937426
KAT6Anot providedPathogenic
(Jun 21, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr8:41795009-41795010
GRCh38:
Chr8:41937491-41937492
KAT6ASyndromic intellectual disability, Mental retardation, autosomal dominant 32Pathogenic
(Mar 5, 2015)
no assertion criteria provided
44.
GRCh37:
Chr8:41795056
GRCh38:
Chr8:41937538
KAT6Anot provided, KAT6A syndrome, Mental retardation, autosomal dominant 32
Pathogenic
(Jan 24, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr8:41795071
GRCh38:
Chr8:41937553
KAT6Anot providedPathogenic
(Nov 15, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr8:41795094-41795095
GRCh38:
Chr8:41937576-41937577
KAT6Anot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr8:41798359
GRCh38:
Chr8:41940841
KAT6Anot providedLikely pathogenic
(Oct 19, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr8:41798359
GRCh38:
Chr8:41940841
KAT6Anot providedLikely pathogenic
(Apr 30, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr8:41798416
GRCh38:
Chr8:41940898
KAT6AMental retardation, autosomal dominant 32Likely benign
(Mar 5, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr8:41798530
GRCh38:
Chr8:41941012
KAT6Anot providedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr8:41798940
GRCh38:
Chr8:41941422
KAT6Anot providedUncertain significance
(Jun 23, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr8:41798965
GRCh38:
Chr8:41941447
KAT6Anot providedLikely pathogenic
(Jan 9, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr8:41801349-41801351
GRCh38:
Chr8:41943831-41943833
KAT6Anot specifiedUncertain significance
(Jan 31, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr8:41812876
GRCh38:
Chr8:41955358
KAT6Anot providedPathogenic
(May 27, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr8:41832271
GRCh38:
Chr8:41974753
KAT6Anot specifiedUncertain significance
(Jun 20, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr8:41834547
GRCh38:
Chr8:41977029
KAT6Anot specifiedUncertain significance
(Sep 28, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr8:41834609
GRCh38:
Chr8:41977091
KAT6Anot providedLikely pathogenic
(Nov 19, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr8:41834713
GRCh38:
Chr8:41977195
KAT6Anot providedPathogenic
(Feb 27, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr8:41834800-41834804
GRCh38:
Chr8:41977282-41977286
KAT6Anot providedPathogenic
(Aug 21, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr8:41836254
GRCh38:
Chr8:41978736
KAT6Anot providedPathogenic
(Jan 2, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr8:41836272
GRCh38:
Chr8:41978754
KAT6Anot providedPathogenic
(Jun 8, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr8:41905925
GRCh38:
Chr8:42048407
KAT6Anot specifiedUncertain significance
(Sep 15, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr8:41906038
GRCh38:
Chr8:42048520
KAT6Anot specifiedUncertain significance
(Mar 8, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr8:41906200
GRCh38:
Chr8:42048682
KAT6Anot providedLikely pathogenic
(Oct 31, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr8:41906249
GRCh38:
Chr8:42048731
KAT6Anot specifiedUncertain significance
(Nov 18, 2016)
criteria provided, single submitter
66.
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, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, 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, CCN4, 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, VXN, 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
67.
GRCh37:
Chr8:11935023-43824035
See casesPathogenic
(May 5, 2014)
no assertion criteria provided
68.
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, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, 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, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, 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, VXN, 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
69.
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, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, 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, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, 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, VXN, 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
70.
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, 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, TCIM, MTUS1, TRMT9B, 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, C8orf48, NKX6-3, KCNU1, ZNF596, IDO2, R3HCC1, PRSS55, C8orf74, HTRA4, ADAM32, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130A, NEIL2, XKR6, MICU3, SCARA5, POTEA, PRSS51, USP17L2, XKR5, NUGGC, C8orf86, USP17L8, USP17L7, USP17L1, MIR124-1, MIR320A, DEFB103A, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, DEFB135, DEFB136, DEFB134, MBOAT4, USP17L4, USP17L3, FAM86B2, SPAG11A, DEFA1B, ZNF705D, ZNF705G, ZNF705B, DEFB4B, SMIM18, LOC101929066
See casesPathogenicno assertion criteria provided
71.
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, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, 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, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, 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, VXN, 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
72.
GRCh37:
Chr8:12580132-43388233
See casesPathogenicno assertion criteria provided
73.
GRCh37:
Chr8:40690198-43388233
See casesPathogenicno assertion criteria provided
74.
GRCh37:
Chr8:24772064-56509566
See casesUncertain significanceno assertion criteria provided
75.
GRCh37:
Chr8:12467484-41943221
GRCh38:
Chr8:12609975-42085703
NAT1, NAT2, ADRA1A, ADRB3, ANK1, ASAH1, ATP6V1B2, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, EXTL3, PTK2B, FGFR1, FGL1, ADAM2, GFRA2, GNRH1, GSR, GTF2E2, NRG1, IDO1, LOXL2, LPL, MSR1, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFRP1, SFTPC, SLC7A2, SLC18A1, STAR, STC1, TACC1, WRN, FZD3, TUSC3, UBXN8, KAT6A, ADAM18, ADAM9, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, ASH2L, MTMR7, BAG4, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, DCTN6, PNMA2, ADAM28, RBPMS, ERLIN2, LZTS1, PLPBP, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, NSD3, PIWIL2, ELP3, INTS10, CCDC25, BRF2, INTS9, CSGALNACT1, HR, PBK, ZNF395, BIN3, TEX15, TCIM, MTUS1, TRMT9B, CCAR2, PLEKHA2, SH2D4A, PDLIM2, EBF2, FAM160B2, DUSP26, HMBOX1, ZMAT4, RNF122, NUDT18, DOCK5, BIN3-IT1, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, TM2D2, GINS4, PLPP5, MAK16, FUT10, LONRF1, CHMP7, GOT1L1, VPS37A, NKX2-6, SGCZ, GPAT4, UNC5D, LETM2, PEBP4, CDCA2, ESCO2, FBXO16, C8orf48, NKX6-3, KCNU1, IDO2, R3HCC1, HTRA4, ADAM32, LGI3, LOC254896, MICU3, LINC02153, SCARA5, LINC02209, LOC340357, LOC389641, NUGGC, C8orf86, MIR320A, MIR383, C8orf58, LINC00589, MBOAT4, MIR486-1, SNORD13, LOC729732, RBPMS-AS1, LOC100128993, LOC100130964, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, LOC100507071, LOC100507156, SMIM18, LINC01605, MIR5692A2, MIR548AO, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929172, LOC101929237, LOC101929294, LOC101929315, EXTL3-AS1, LINC02099, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, MIR486-2, LOC102467222, LOC102723701, LOC102723729, LOC102725080, LINC01288, LOC105379393, LOC107133509, LOC108004525, LOC108254664, LOC108281187, LOC108863620, SNORD38D, SNORD65B, SNORD3F, LOC110120654, LOC110120721, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110121062, LOC110121182, LOC110121192, LOC110121196, LOC110121233, LOC111255642, LOC111255645, LOC111413020, LOC111465018, LOC111500313, LOC111828529, SIRLNT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
76.
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, 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, TCIM, MTUS1, TRMT9B, 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, LOC107133509, LOC108004525, LOC108254664, LOC108281187, LOC108863620, SNORD38D, SNORD65B, SNORD3F, LOC110120654, LOC110120721, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110121062, LOC110121182, LOC110121192, LOC110121196, LOC110121233, LOC111255642, LOC111255645, LOC111413020, LOC111465018, LOC111500313, LOC111828529, SIRLNT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
77.
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, CCN3, ODF1, TNFRSF11B, OPRK1, PCM1, PDE7A, PDGFRL, ENPP2, PENK, PLAG1, PLAT, PLEC, PNOC, PMP2, POLB, POLR2K, POU5F1B, PPP2CB, PPP2R2A, PPP3CC, PKIA, PRKDC, PTK2, PVT1, PEX2, RAB2A, RAD21, RP1, RPL7, RPL8, RPL30, RPS20, SDC2, SDCBP, SFRP1, SFTPC, ST3GAL1, SLA, SLC7A2, SLC18A1, SLC20A2, SNAI2, SNTB1, SPAG1, SQLE, STAR, STC1, STK3, TACC1, TAF2, TCEA1, ELOC, TERF1, TG, KLF10, TPD52, TRHR, TRPS1, 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, CCN4, CPNE3, FOXH1, CHRNA6, TRPA1, DOK2, ASH2L, MTMR7, CCNE2, EBAG9, MYOM2, DLGAP2, MSC, MFHAS1, KCNB2, RECQL4, CYP7B1, BAG4, ENTPD4, ARHGEF10, MTFR1, LRRC14, EMC2, RIMS2, ST18, TOX, MTSS1, PTDSS1, PHYHIP, RB1CC1, ZNF623, WASHC5, KBTBD11, HHLA1, SORBS3, TRIB1, RIDA, NPM2, DLC1, NDRG1, CPQ, SPAG11B, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, LZTS1, PLPBP, RNF139, ZHX1, PUF60, ZHX2, DENND3, XPO7, TRIM35, ZC3H3, EFR3A, RRS1, SULF1, RHOBTB2, ARC, BOP1, DDHD2, KIF13B, PSD3, ZFPM2, HEY1, TRAM1, LEPROTL1, SCRIB, SPIDR, SLC39A14, 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, VXN, 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, PEG13, SPATC1, USP17L2, CA13, LINC01181, XKR5, LOC389641, NUGGC, C8orf86, ALKAL1, XKR9, C8orf87, RBM12B, MROH5, MAFA, USP17L8, USP17L7, GDF6, LOC401442, USP17L1, LOC401463, C8orf59, GASAL1, SAMD12, LOC401478, MIR124-1, MIR124-2, MIR30B, MIR30D, MIR320A, DEFB103A, C8orf82, SLURP2, 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, NKAIN3-IT1, 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, LOC100129129, TCF24, LOC100130027, 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, LNCOC1, LOC100288748, DEFB4B, MIR1302-7, MIR1205, MIR1273A, MIR1322, MIR1206, MIR1207, MIR1204, MIR548I3, MIR1234, MIR2053, MIR2052, MIR1208, PTCSC1, LOC100310756, 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, IGLV8OR8-1, 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, LINC00976, SNORA99, LOC106783493, LOC106799833, LOC106799834, LOC106867047, LOC106903146, LOC107133509, LOC107228383, LOC107403242, LOC107436008, LOC107457586, LOC107522030, LINC02055, LOC108004525, LOC108004543, LOC108004544, LOC108228207, LOC108254662, LOC108254664, LOC108254690, LOC108281119, LOC108281129, LOC108281171, LOC108281187, CRE3, LOC108353813, LOC108491824, LOC108863620, SNORD38D, SNORD65B, SNORD77B, SNORD3F, SNORD3I, SNORA1B, SNORD3H, SNORD168, SNORD173, SNORD149, LOC110120608, LOC110120654, LOC110120689, LOC110120721, LOC110120738, LOC110120748, LOC110120756, LOC110120766, LOC110120768, LOC110120769, LOC110120770, LOC110120781, LOC110120797, LOC110120800, LOC110120801, LOC110120802, LOC110121038, LOC110121048, LOC110121054, LOC110121059, LOC110121062, LOC110121079, LOC110121096, LOC110121100, LOC110121123, LOC110121155, LOC110121157, LOC110121179, LOC110121182, LOC110121186, LOC110121191, LOC110121192, LOC110121196, LOC110121208, LOC110121217, LOC110121218, LOC110121233, LOC110121280, LOC110121281, LOC110596866, LOC110599578, LOC110673971, LOC110673972, LINC02155, LOC111089944, LYNX1-SLURP2, LOC111255642, LOC111255645, LOC111365157, LOC111365178, LOC111365182, LOC111365183, LOC111365225, LOC111413020, LOC111429611, LOC111429623, LOC111465018, LOC111500313, LOC111556135, LOC111556136, LOC111556139, LOC111556148, LOC111556153, LOC111589211, LOC111811969, LOC111818956, LOC111828529, SIRLNT
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
78.
GRCh37:
Chr8:39818050-43528350
GRCh38:
Chr8:39960531-43673207
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
79.
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, 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, CCN3, 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, CCN4, 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, VIRMA, 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,