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Items: 94

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Aug 1, 2015)
no assertion criteria provided
2.
FGFR1Osteoglophonic dysplasiaPathogenic
(Feb 1, 2005)
no assertion criteria provided
3.
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Apr 1, 2003)
no assertion criteria provided
4.
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Apr 1, 2003)
no assertion criteria provided
5.
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Apr 1, 2003)
no assertion criteria provided
6.
GRCh37:
Chr8:38271301
GRCh38:
Chr8:38413783
FGFR1not specified, not providedGMAF:0.00920(A)Benign
(Apr 25, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr8:38271313
GRCh38:
Chr8:38413795
FGFR1Kallmann syndrome 2risk factor
(Aug 1, 2008)
no assertion criteria provided
8.
GRCh37:
Chr8:38271436
GRCh38:
Chr8:38413918
FGFR1Kallmann syndrome 2Pathogenic
(Aug 1, 2008)
no assertion criteria provided
9.
GRCh37:
Chr8:38271519
GRCh38:
Chr8:38414001
FGFR1Hypogonadotrophic hypogonadismLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr8:38271547
GRCh38:
Chr8:38414029
FGFR1not specifiedGMAF:0.00720(A)Benign
(Jun 5, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr8:38271682
GRCh38:
Chr8:38414164
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
12.
GRCh37:
Chr8:38271691
Chr8:38271684
GRCh38:
Chr8:38414173
Chr8:38414166
FGFR1Kallmann syndrome 2risk factor
(Apr 18, 2006)
no assertion criteria provided
13.
GRCh37:
Chr8:38271692
GRCh38:
Chr8:38414174
FGFR1Hypogonadotropic hypogonadism 2 with anosmiaPathogenic
(Oct 1, 2006)
no assertion criteria provided
14.
GRCh37:
Chr8:38271772
GRCh38:
Chr8:38414254
FGFR1Kallmann syndrome 2Pathogenic
(Oct 24, 2013)
no assertion criteria provided
15.
GRCh37:
Chr8:38271781
GRCh38:
Chr8:38414263
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(May 2, 2013)
no assertion criteria provided
16.
GRCh37:
Chr8:38271782
GRCh38:
Chr8:38414264
FGFR1HoloprosencephalyLikely pathogenic
(Apr 13, 2016)
no assertion criteria provided
17.
GRCh37:
Chr8:38271797
GRCh38:
Chr8:38414279
FGFR1Hypogonadotrophic hypogonadismLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr8:38272087
GRCh38:
Chr8:38414569
FGFR1Kallmann syndrome 2, Delayed pubertyPathogenic/Likely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr8:38272117
GRCh38:
Chr8:38414599
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(May 2, 2013)
no assertion criteria provided
20.
GRCh37:
Chr8:38272296
GRCh38:
Chr8:38414778
FGFR1Semilobar holoprosencephalyLikely pathogenic
(Apr 13, 2016)
no assertion criteria provided
21.
GRCh37:
Chr8:38272308
GRCh38:
Chr8:38414790
FGFR1Encephalocraniocutaneous lipomatosisPathogenic
(Apr 4, 2016)
no assertion criteria provided
22.
GRCh37:
Chr8:38272346
GRCh38:
Chr8:38414828
FGFR1microform holoprosencephalyLikely pathogenic
(Apr 13, 2016)
no assertion criteria provided
23.
GRCh37:
Chr8:38272358
GRCh38:
Chr8:38414840
FGFR1Hypogonadotrophic hypogonadism, Delayed pubertyLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr8:38272390
GRCh38:
Chr8:38414872
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
25.
GRCh37:
Chr8:38272394
GRCh38:
Chr8:38414876
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
26.
GRCh37:
Chr8:38272407
GRCh38:
Chr8:38414889
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
27.
GRCh37:
Chr8:38272410
GRCh38:
Chr8:38414892
FGFR1Kallmann syndrome 2, Hypogonadotrophic hypogonadism, Delayed puberty
Likely pathogenic, risk factor
(Nov 1, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr8:38273417
GRCh38:
Chr8:38415899
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Mar 13, 2007)
no assertion criteria provided
29.
GRCh37:
Chr8:38273423
GRCh38:
Chr8:38415905
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Apr 1, 2003)
no assertion criteria provided
30.
GRCh37:
Chr8:38274815
GRCh38:
Chr8:38417297
FGFR1not providedGMAF:0.00020(A)Uncertain significance
(Apr 3, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr8:38274849
GRCh38:
Chr8:38417331
FGFR1Encephalocraniocutaneous lipomatosisPathogenic
(Apr 4, 2016)
no assertion criteria provided
32.
GRCh37:
Chr8:38275472
GRCh38:
Chr8:38417954
FGFR1Hartsfield syndromePathogenic/Likely pathogenic
(Apr 13, 2016)
no assertion criteria provided
33.
GRCh37:
Chr8:38275480
GRCh38:
Chr8:38417962
FGFR1Kallmann syndrome 2Pathogenic
(Oct 24, 2013)
no assertion criteria provided
34.
GRCh37:
Chr8:38275486
GRCh38:
Chr8:38417968
FGFR1Hartsfield syndromeLikely pathogenic
(Apr 13, 2016)
no assertion criteria provided
35.
GRCh37:
Chr8:38275493
GRCh38:
Chr8:38417975
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(May 2, 2013)
no assertion criteria provided
36.
GRCh37:
Chr8:38275767
GRCh38:
Chr8:38418249
FGFR1Kallmann syndrome 2GMAF:0.00020(A)risk factor
(Feb 1, 2007)
no assertion criteria provided
37.
GRCh37:
Chr8:38275858-38275859
GRCh38:
Chr8:38418340-38418341
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Apr 1, 2006)
no assertion criteria provided
38.
GRCh37:
Chr8:38277194
GRCh38:
Chr8:38419676
FGFR1Osteoglophonic dysplasiaPathogenic
(Mar 1, 2006)
no assertion criteria provided
39.
GRCh37:
Chr8:38277214
GRCh38:
Chr8:38419696
FGFR1Osteoglophonic dysplasiaPathogenic
(Feb 1, 2005)
no assertion criteria provided
40.
GRCh37:
Chr8:38277238
GRCh38:
Chr8:38419720
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO, Hypogonadotrophic hypogonadismLikely pathogenic, risk factor
(Nov 1, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr8:38279358-38279359
GRCh38:
Chr8:38421840-38421841
FGFR1Hypogonadotrophic hypogonadism, Delayed pubertyLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr8:38279371
GRCh38:
Chr8:38421853
FGFR1HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TOrisk factor
(Feb 1, 2007)
no assertion criteria provided
43.
GRCh37:
Chr8:38279407
GRCh38:
Chr8:38421889
FGFR1Osteoglophonic dysplasiaPathogenic
(Mar 1, 2006)
no assertion criteria provided
44.
GRCh37:
Chr8:38282064
GRCh38:
Chr8:38424546
FGFR1Trigonocephaly 1GO-ESP:0.00039(G)
GMAF:0.00020(G)
Pathogenic
(May 1, 2005)
no assertion criteria provided
45.
GRCh37:
Chr8:38282142
GRCh38:
Chr8:38424624
FGFR1Hypogonadotrophic hypogonadism, Delayed pubertyLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr8:38282173
GRCh38:
Chr8:38424655
FGFR1Kallmann syndrome 2Pathogenic
(Oct 24, 2013)
no assertion criteria provided
47.
GRCh37:
Chr8:38282208
GRCh38:
Chr8:38424690
FGFR1Jackson-Weiss syndrome, Pfeiffer syndromePathogenic
(Jan 1, 2004)
no assertion criteria provided
48.
GRCh37:
Chr8:38282214
GRCh38:
Chr8:38424696
FGFR1Lobar holoprosencephalyLikely pathogenic
(Apr 13, 2016)
no assertion criteria provided
49.
GRCh37:
Chr8:38282214
GRCh38:
Chr8:38424696
FGFR1Kallmann syndrome 2risk factor
(May 2, 2013)
no assertion criteria provided
50.
GRCh37:
Chr8:38283676
GRCh38:
Chr8:38426158
FGFR1Kallmann syndrome 2risk factor
(Apr 18, 2006)
no assertion criteria provided
51.
GRCh37:
Chr8:38285488
GRCh38:
Chr8:38427970
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
52.
GRCh37:
Chr8:38285495
GRCh38:
Chr8:38427977
FGFR1Kallmann syndrome 2Pathogeniccriteria provided, single submitter
53.
GRCh37:
Chr8:38285561
GRCh38:
Chr8:38428043
FGFR1Hypogonadotropic hypogonadism 2 with anosmiaPathogenic
(Apr 1, 2003)
no assertion criteria provided
54.
GRCh37:
Chr8:38285566
GRCh38:
Chr8:38428048
FGFR1Hartsfield syndromePathogenic
(Jan 6, 2016)
no assertion criteria provided
55.
GRCh37:
Chr8:38285869
GRCh38:
Chr8:38428351
FGFR1Kallmann syndrome 2Pathogenic
(Oct 24, 2013)
no assertion criteria provided
56.
GRCh37:
Chr8:38287213
GRCh38:
Chr8:38429695
FGFR1not specifiedGMAF:0.00320(A)Benign
(Feb 5, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr8:38287222
GRCh38:
Chr8:38429704
FGFR1not specifiedGMAF:0.00220(A)Benign
(Feb 5, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr8:38287238
GRCh38:
Chr8:38429720
FGFR1not specifiedGMAF:0.00400(A)Benign
(Jan 26, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr8:38287262
GRCh38:
Chr8:38429744
FGFR1Hypogonadotrophic hypogonadism, Delayed pubertyLikely pathogenic
(Nov 1, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr8:38287416
GRCh38:
Chr8:38429898
FGFR1Kallmann syndrome 2Pathogenic
(Oct 1, 2006)
no assertion criteria provided
61.
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, GULOP, 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, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, PIWIL2, ELP3, 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, 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, LOC286114, SCARA5, FAM183CP, 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, LOC101929450, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, MIR486-2, LOC102467222, LOC102723701, LOC102723729, LOC102725080, LINC01288, LOC105379393
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
62.
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, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, DKK4, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, 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, LOC286114, SCARA5, FAM183CP, 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, LOC101929450, 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
63.
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, TCEB1, 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, KIAA0196, 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, PROSC, 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, WHSC1L1, 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, PYCRL, 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, FAM92A1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, SGK223, 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, LOC286114, C8orf31, ZFP41, SCARA5, FAM183CP, 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, FAM150A, 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, 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, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LOC101929450, 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, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LOC102724623, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105375650, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
64.
GRCh37:
Chr8:12490999-40543052
GRCh38:
Chr8:12633490-40685533
NAT1, NAT2, ADRA1A, ADRB3, ASAH1, ATP6V1B2, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, EXTL3, PTK2B, FGFR1, FGL1, ADAM2, GFRA2, GNRH1, GSR, GTF2E2, GULOP, NRG1, IDO1, LOXL2, LPL, MSR1, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STAR, STC1, TACC1, WRN, FZD3, TUSC3, UBXN8, ADAM18, ADAM9, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, ASH2L, MTMR7, BAG4, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, DCTN6, PNMA2, ADAM28, RBPMS, ERLIN2, LZTS1, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, LSM1, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, PIWIL2, ELP3, 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, TM2D2, PLPP5, MAK16, FUT10, LONRF1, CHMP7, GOT1L1, VPS37A, NKX2-6, SGCZ, UNC5D, LETM2, PEBP4, CDCA2, ESCO2, FBXO16, C8orf48, KCNU1, IDO2, R3HCC1, HTRA4, ADAM32, LGI3, LOC254896, MICU3, LOC286114, SCARA5, FAM183CP, LOC340357, LOC389641, NUGGC, C8orf86, MIR320A, MIR383, C8orf58, LINC00589, MBOAT4, SNORD13, LOC729732, RBPMS-AS1, LOC100128993, LOC100130964, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, LOC100507071, LOC100507156, SMIM18, LINC01605, MIR5692A2, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929172, LOC101929237, LOC101929294, LOC101929315, EXTL3-AS1, LOC101929450, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, LOC102467222, LOC102723701, LOC102725080, LINC01288
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
65.
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, TCEB1, 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, KIAA0196, 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, PROSC, 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, WHSC1L1, 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, PYCRL, 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, FAM92A1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, SGK223, 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, LOC286114, C8orf31, ZFP41, SCARA5, FAM183CP, 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, FAM150A, 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, 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, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LOC101929450, 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, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LOC102724623, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105375650, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
66.
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, TCEB1, 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, KIAA0196, HHLA1, SORBS3, TRIB1, RIDA, NPM2, NDRG1, CPQ, LYPLA1, NCOA2, ARFGEF1, COLEC10, KHDRBS3, DCTN6, PNMA2, ADAM28, POP1, AP3M2, COPS5, RBPMS, WWP1, STMN2, PTP4A3, ERLIN2, PROSC, 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, WHSC1L1, 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, PYCRL, 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, FAM92A1, 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, FAM183CP, 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, FAM150A, 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, 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, LOC101928160, LOC101928902, LOC101929172, LOC101929217, LOC101929237, LOC101929268, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LOC101929450, 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, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393
See casesPathogenic
(Aug 26, 2013)
no assertion criteria provided
67.
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, TCEB1, 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, KIAA0196, 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, PROSC, 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, WHSC1L1, 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, PYCRL, 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, FAM92A1, VPS37A, NDUFAF6, TMEM68, ABRA, LYPD2, NKX2-6, TMEM71, SGCZ, ADHFE1, UBXN2B, PXDNL, GPAT4, UNC5D, LETM2, DCAF4L2, RALYL, HGSNAT, DEFB104A, LOC157273, SGK223, 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, LOC286114, C8orf31, ZFP41, SCARA5, FAM183CP, 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, FAM150A, 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, 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, LOC101928160, LOC101928902, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929217, LOC101929229, LOC101929237, LOC101929268, LOC101929269, LOC101929294, LOC101929315, LOC101929341, EXTL3-AS1, LOC101929415, LOC101929450, 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, LOC102723322, ZFPM2-AS1, LOC102723701, LOC102723729, LOC102724612, LOC102724623, LOC102724708, LOC102724710, LOC102724804, LOC102724874, LOC102725080, CASC21, CASC19, PCAT2, LINC01419, LINC01288, LOC104054148, KBTBD11-OT1, LINC01151, MAFA-AS1, LOC105375650, LOC105375713, LOC105375734, LOC105375744, LOC105375773, LOC105375787, LOC105375843, LOC105379393, SNORA99
See casesPathogenicno assertion criteria provided
68.
GRCh37:
Chr8:6999219-38553064
GRCh38:
Chr8:7141697-38695546
NAT1, NAT2, ADRA1A, ADRB3, ASAH1, ATP6V1B2, BLK, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, CTSB, DEFB4A, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, EXTL3, PTK2B, FDFT1, FGFR1, FGL1, GATA4, GFRA2, GNRH1, GSR, GTF2E2, GULOP, NRG1, LOXL2, LPL, MSR1, MSRA, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STAR, STC1, WRN, FZD3, TUSC3, UBXN8, TNKS, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, ASH2L, MTMR7, MFHAS1, BAG4, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, SPAG11B, DCTN6, PNMA2, ADAM28, RBPMS, ERLIN2, LZTS1, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, LSM1, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, PINX1, PIWIL2, ELP3, INTS10, CCDC25, BRF2, INTS9, CSGALNACT1, HR, PBK, ZNF395, DEFB103B, BIN3, TEX15, MTUS1, KIAA1456, CCAR2, SH2D4A, PDLIM2, EBF2, FAM160B2, MTMR9, DUSP26, HMBOX1, PPP1R3B, RNF122, NUDT18, DOCK5, BIN3-IT1, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, SOX7, FAM167A, SLC35G5, LINC00208, FAM167A-AS1, PLPP5, MAK16, FUT10, FAM86B1, ERI1, LONRF1, CHMP7, RP1L1, CLDN23, GOT1L1, VPS37A, NKX2-6, SGCZ, UNC5D, LETM2, DEFB104A, LOC157273, SGK223, PEBP4, CDCA2, ESCO2, FBXO16, LINC00599, TDH, C8orf48, KCNU1, R3HCC1, PRSS55, C8orf74, LGI3, DEFB105A, DEFB106A, DEFB107A, DEFB130, NEIL2, LOC254896, XKR6, MICU3, LOC286114, SCARA5, FAM183CP, LOC340357, PRSS51, LINC00965, USP17L2, FAM90A3P, FAM90A15P, LOC389641, NUGGC, C8orf86, USP17L8, USP17L7, USP17L1, MIR124-1, MIR320A, DEFB103A, FAM90A13P, FAM90A5P, FAM90A7P, FAM90A8P, FAM90A18P, FAM90A9P, FAM90A10P, MIR383, DEFB107B, DEFB104B, DEFB106B, DEFB105B, C8orf58, C8orf49, DEFB135, DEFB136, DEFB134, LINC00589, MBOAT4, FAM85A, USP17L4, FAM90A14P, USP17L3, FAM90A12P, FAM86B2, SPAG11A, SNORD13, MIR597, MIR598, FAM90A20P, FAM90A19P, ZNF705D, LOC729732, RBPMS-AS1, FAM66B, LOC100128993, PRR23D1, ZNF705G, FAM66E, ZNF705B, FAM66D, FAM66A, PRR23D2, LOC100133267, DEFB4B, MIR1322, MIR548I3, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR4286, MIR3926-2, MIR3622A, MIR3926-1, MIR3622B, LOC100506990, LOC100507071, LOC100507156, SMIM18, LINC01605, MIR4660, MIR5692A2, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929128, LOC101929172, LINCR-0001, LOC101929229, LOC101929237, LOC101929269, LOC101929294, LOC101929315, EXTL3-AS1, LOC101929450, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, LOC102467222, LOC102723701, LOC102725080, LINC01288, SNORA99
See casesPathogenic
(Feb 25, 2013)
no assertion criteria provided
69.
GRCh37:
Chr8:12503632-43541986
GRCh38:
Chr8:12646123-43686843
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, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, DKK4, LSM1, ADAMDEC1, CNOT7, PURG, GOLGA7, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, 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, LOC286114, SCARA5, FAM183CP, LOC340357, POTEA, 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, MIR4469, MIR5692A2, MIR548AO, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929172, LOC101929237, LOC101929294, LOC101929315, EXTL3-AS1, LOC101929450, LOC101929470, LOC101929550, LOC101929622, LOC101929897, MIR6841, MIR6842, MIR6843, MIR6876, MIR486-2, LOC102467222, LOC102723701, LOC102723729, LOC102725080, LINC01288, LOC105379393
See casesPathogenic
(Aug 19, 2011)
no assertion criteria provided
70.
GRCh37:
Chr8:12586532-39093453
GRCh38:
Chr8:12729023-39235934
NAT1, NAT2, ADRA1A, ADRB3, ASAH1, ATP6V1B2, BMP1, POLR3D, BNIP3L, CHRNA2, CLU, DPYSL2, DUSP4, EGR3, EIF4EBP1, DMTN, EPHX2, EXTL3, PTK2B, FGFR1, FGL1, GFRA2, GNRH1, GSR, GTF2E2, GULOP, NRG1, LOXL2, LPL, MSR1, NEFM, NEFL, NKX3-1, PCM1, PDGFRL, PNOC, PPP2CB, PPP2R2A, PPP3CC, SFTPC, SLC7A2, SLC18A1, STAR, STC1, TACC1, WRN, FZD3, TUSC3, UBXN8, ADAM9, ADAM7, TNFRSF10D, TNFRSF10C, TNFRSF10B, TNFRSF10A, FGF17, DOK2, ASH2L, MTMR7, BAG4, ENTPD4, PHYHIP, SORBS3, NPM2, DLC1, DCTN6, PNMA2, ADAM28, RBPMS, ERLIN2, LZTS1, PROSC, XPO7, TRIM35, RHOBTB2, DDHD2, KIF13B, PSD3, LEPROTL1, SLC39A14, ADGRA2, FGF20, LSM1, ADAMDEC1, CNOT7, PURG, ZDHHC2, SLC25A37, SCARA3, SARAF, KCTD9, WHSC1L1, PIWIL2, ELP3, INTS10, CCDC25, BRF2, INTS9, CSGALNACT1, HR, PBK, ZNF395, BIN3, TEX15, MTUS1, KIAA1456, CCAR2, PLEKHA2, SH2D4A, PDLIM2, EBF2, FAM160B2, DUSP26, HMBOX1, RNF122, NUDT18, DOCK5, BIN3-IT1, ZNF703, TTI2, RAB11FIP1, REEP4, STMN4, TM2D2, PLPP5, MAK16, FUT10, LONRF1, CHMP7, GOT1L1, VPS37A, NKX2-6, SGCZ, UNC5D, LETM2, PEBP4, CDCA2, ESCO2, FBXO16, C8orf48, KCNU1, R3HCC1, HTRA4, ADAM32, LGI3, LOC254896, MICU3, LOC286114, SCARA5, FAM183CP, LOC340357, LOC389641, NUGGC, C8orf86, MIR320A, MIR383, C8orf58, LINC00589, MBOAT4, SNORD13, RBPMS-AS1, LOC100128993, MIR548H4, MIR4287, MIR548V, MIR3148, MIR4288, MIR3622A, MIR3622B, LOC100507071, LOC100507156, SMIM18, LINC01605, NRG1-IT1, LZTS1-AS1, NRG1-IT3, LINC00681, LOC101929066, LOC101929172, LOC101929237, LOC101929294, LOC101929315, EXTL3-AS1, LOC101929450, LOC101929470, LOC101929550, LOC101929622, MIR6841, MIR6842, MIR6843, MIR6876, LOC102467222, LOC102723701, LOC102725080, LINC01288
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
71.
GRCh37:
Chr8:36437621-60531557
GRCh38:
Chr8:36580103-59618998
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
72.
GRCh37:
Chr8:37903880-39029772
GRCh38:
Chr8:38046362-39172253
See casesPathogenic
(Sep 18, 2012)
no assertion criteria provided
73.
GRCh37:
Chr8:191605-146280167
GRCh38:
Chr8:241605-145054781