U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 60

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:90429459-97347545
not providedUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:90429459-94856914
Achondrogenesis, type IAUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr14:92530690
GRCh38:
Chr14:92064346
ATXN3D113Y, D284Y, D299Y, D303Y, D175Y, D233Y, D339Y, D354YInborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr14:92555136
GRCh38:
Chr14:92088792
ATXN3T123M, T83M, T138M, T68M, T87M, T17MInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr14:92549495
GRCh38:
Chr14:92083151
ATXN3E16K, E140K, E180K, E125K, E144K, E195K, E74KInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr14:92547336
GRCh38:
Chr14:92080992
ATXN3R282Q, R41Q, R227Q, R231Q, R103Q, R161Q, R212Q, R267QInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr14:92548747
GRCh38:
Chr14:92082403
ATXN3E173D, E154D, E209D, E103D, E169D, E224D, E45DInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr14:92530677
GRCh38:
Chr14:92064333
ATXN3E117G, E303G, E237G, E288G, E307G, E358G, E179G, E343GInborn genetic diseasesUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr14:92537323
GRCh38:
Chr14:92070979
ATXN3C137Y, C195Y, C246Y, C301Y, M103I, M33I, M48I, M88I, C261Y, C316Y, C265Y, C75Y, M154IInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:92547399
GRCh38:
Chr14:92081055
ATXN3S210Y, S246Y, S140Y, S206Y, S20Y, S82Y, S191Y, S261YInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr14:92548775
GRCh38:
Chr14:92082431
ATXN3A145V, A164V, A36V, A160V, A94V, A200V, A215VInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr14:92548776
GRCh38:
Chr14:92082432
ATXN3A160P, A164P, A94P, A145P, A200P, A215P, A36PInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr14:84537502-107285437
not providedPathogenic
(Oct 5, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr14:81593708-97059276
not providedLikely pathogenic
(Aug 11, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr14:37671058-106985955
ABCD4, ABHD12B, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKAP5, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AP5M1, AREL1, ARF6, ARG2, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, CALM1, CATSPERB, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNK, CDC42BPB, CDCA4, CDKL1, CDKN3, CEP128, CEP170B, CGRRF1, CHGA, CHURC1, CHURC1-FNTB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CNIH1, COA8, COQ6, COX16, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DAAM1, DACT1, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS7, DICER1, DIO2, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DYNC1H1, EFCAB11, EIF2B2, EIF2S1, EIF5, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, HEATR4, HHIPL1, HIF1A, HIF1A-AS2, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, KCNH5, KCNK10, KCNK13, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LRFN5, LRR1, LRRC74A, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MAX, MDGA2, MED6, MEG3, MEG8, MGAT2, MIA2, MIDEAS, MIPOL1, MIR127, MIR134, MIR136, MIR203A, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MNAT1, MOAP1, MOK, MTA1, MTHFD1, NAA30, NDUFB1, NEK9, NEMF, NGB, NID2, NIN, NOXRED1, NPC2, NRDE2, NUDT14, NUMB, OTUB2, OTX2, PACS2, PALS1, PAPLN, PAPOLA, PAPOLA-DT, PCNX1, PCNX4, PELI2, PGF, PIGH, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R36, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PROX2, PRPF39, PSEN1, PSMA3, PSMC1, PSMC6, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAD51B, RBM25, RCOR1, RD3L, RDH11, RDH12, RGS6, RHOJ, RIN3, RIOX1, RN7SL1, RN7SL2, RN7SL3, RPL10L, RPL36AL, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SAMD15, SAMD4A, SAV1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SGPP1, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC24A4, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A9, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SRSF5, SSTR1, STON2, STYX, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TIMM9, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VRTN, VRK1, VASH1, VCPKMT, VIPAS39, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF410, ZNF839
See casesPathogenicno assertion criteria provided
16.
GRCh37:
Chr14:88345625-94773741
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987Azorean diseaseUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr14:92537354
GRCh38:
Chr14:92071010
ATXN3not providedUncertain significance
(Oct 3, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot specifiedBenignno assertion criteria provided
20.
GRCh37:
Chr14:92537379-92537380
GRCh38:
Chr14:92071035-92071036
LOC108663987, ATXN3Q126fs, Q184fs, Q235fs, Q250fs, Q254fs, Q290fs, Q305fs, T136fs, T15fs, T30fs, T70fs, T85fsnot providedLikely benignno assertion criteria provided
21.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot providedUncertain significanceno assertion criteria provided
22.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3not providedBenign
(Nov 27, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987G127fs, G144fs, G185fs, G236fs, G23fs, G251fs, G255fs, G291fs, G306fs, G38fs, G78fs, G93fsnot providedUncertain significanceno assertion criteria provided
24.
GRCh37:
Chr14:92537353-92537354
GRCh38:
Chr14:92071009-92071010
ATXN3G127fs, G145fs, G185fs, G236fs, G24fs, G251fs, G255fs, G291fs, G306fs, G39fs, G79fs, G94fsnot providedUncertain significanceno assertion criteria provided
25.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not providedLikely benignno assertion criteria provided
26.
GRCh37:
Chr14:92547408
GRCh38:
Chr14:92081064
ATXN3Tip-toe gaitUncertain significance
(Mar 22, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
LOC108663987, ATXN3Azorean diseaseBenign
(Nov 16, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr14:84783523-96907490
Deletion syndromePathogenic
(Nov 13, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr14:91969028-107285437
not providedPathogenic
(Oct 4, 2017)
no assertion criteria provided
30.
GRCh37:
Chr14:19327823-107287663
TPPP2, ACYP1, TRAF3, TINF2, UNC79, CHURC1, C14orf178, RPL36AL, PPP2R5C, TCL1A, FBXO34, TRIM9, EIF2S1, TMX1, SERPINA12, LOC101929572, LGALS3, AHNAK2, CCNB1IP1, DHRS4L1, FAM161B, ZFYVE1, CIPC, ABHD12B, SYNE3, RDH12, VRTN, LINC01599, GPR33, DYNC1H1, RNASE13, C14orf132, LTB4R, COX16, VIPAS39, MIR409, PCNX4, TMEM121, PPP4R3A, AKAP6, SIVA1, TDP1, ESRRB, POMT2, FOXN3, RNASE12, DACT1, GMPR2, ISCA2, TOX4, MIR370, RN7SL2, RPS29, MAPK1IP1L, STYX, NYNRIN, KIF26A, PRKD1, PNN, WARS1, CMA1, SIPA1L1, GARIN2, DIO2, CEP170B, TRL-AAG2-3, IGHD, TTC5, ADAM21, HOMEZ, BDKRB2, KHNYN, GSTZ1, FNTB, POTEM, IGHG2, SYNJ2BP, CPNE6, MIR369, DLST, FLVCR2, PPP4R4, JKAMP, NIN, SERPINA3, MIR136, MGAT2, GNG2, NEMF, OR4K17, EML5, LIN52, PPP1R3E, MOAP1, SERPINA4, IGHA1, DDHD1, SNORD113-1, CDKL1, POTEG, TIMM9, PAPOLA-DT, SSTR1, RNASE2, MIR376B, ITPK1, FCF1, ERH, PPP2R5E, TRIP11, BMP4, EGLN3, OR4K2, NRDE2, NFKBIA, SLC35F4, GMFB, TNFAIP2, SAV1, ARHGAP5, PSMC6, PSMB5, PLD4, IGHM, CHURC1-FNTB, OR4M1, NGB, KCNK10, SPATA7, GCH1, OTUB2, PNMA1, PIGH, CCDC88C, SIX6, EVL, SLC25A29, TRP-AGG2-5, IGHD3-3, HSPA2, WDHD1, DMAC2L, TMEM179, PGF, TECPR2, JAG2, GTF2A1, MIR208A, EIF2B2, MED6, PTPN21, L2HGDH, TMED8, KLHL28, PSEN1, OR4N5, KLHL33, MAX, SLC39A2, ANG, TGFB3, EMC9, RPPH1, PLEK2, SLC10A1, STXBP6, NPC2, PRIMA1, ZFHX2, FAM181A, TGM1, SUSD6, SLC25A21, ATXN3, TM9SF1, SAMD4A, SPTB, GPR137C, HEATR4, DCAF11, CINP, AKT1, ZFYVE26, OR5AU1, ATL1, RNASE8, LRP10, TBPL2, GZMB, IGHE, SNORD112, JPH4, TCL6, NKX2-1, PRMT5, PRPF39, FKBP3, IGHG4, DCAF5, C14orf119, PPP2R3C, EIF5, DHRS7, FBXO33, DICER1, PLEKHD1, MEG3, RNASE9, OTX2, TCL1B, MDGA2, GPR65, AHSA1, KLC1, GPATCH2L, KIAA0586, IRF2BPL, ARF6, CBLN3, CATSPERB, DHRS1, SPTLC2, ARID4A, ABCD4, DCAF4, OR4K13, AJUBA, RNASE3, MIR410, CCNK, TMEM229B, MIR376A2, OR4E2, DAAM1, FITM1, CMTM5, ABHD4, SNX6, BDKRB1, NEDD8, VSX2, MAP4K5, SERPINA1, GSC, PYGL, BCL11B, KLHDC1, TRAPPC6B, MAP3K9, G2E3, RNF31, PLEKHH1, TRT-TGT3-1, CCDC175, PCK2, OR10G3, RN7SL1, SLC38A6, SEC23A, GSKIP, PPP1R36, PSME2, RCOR1, PABPN1, PSMA6, PTGR2, ZNF839, METTL17, RAD51B, OSGEP, GLRX5, DIO3, DNAL1, DDX24, SERPINA5, DAD1, CNIH1, CHMP4A, CHD8, NID2, MOK, TMEM253, EFS, MMP14, FSCB, TEX22, CRIP2, SERPINA9, OR11H6, MIS18BP1, FOS, OR4Q3, DEGS2, SYNE2, PCNX1, ZBTB1, INF2, HECTD1, BAZ1A, RDH11, CLMN, ACTR10, SNHG10, STON2, TTC9, C14orf180, HSP90AA1, ESR2, FLRT2, BRMS1L, CALM1, MIR433, SOCS4, LINC01588, SYT16, UBR7, OR4K14, GEMIN2, DHRS4L2, NRL, RAB2B, CRIP1, OR10G2, OR4K5, ADCK1, SOS2, IRF9, PSME1, PACS2, AKAP5, APEX1, GALNT16, POLE2, MIR487B, DHRS2, OR4K1, MNAT1, FOXG1, EDDM3A, SLC8A3, DPF3, PROX2, OR11H2, TOGARAM1, PAPLN, STRN3, YY1, ASB2, PLEKHG3, PALS1, CDC42BPB, KCNK13, KTN1, DHRS4, CCDC177, COA8, RIN3, INSM2, SETD3, BTBD7, ERO1A, LYSET, SIX4, ATP6V1D, HIF1A, MIR495, SNW1, BCL2L2-PABPN1, PRORP, ACOT6, ISM2, SLC25A47, RIOX1, TXNDC16, MIR208B, TRMT61A, ZDHHC22, AP1G2, XRCC3, LRRC74A, DLGAP5, CDCA4, NGDN, SUPT16H, MIR127, ZFYVE21, RNASE11, BTBD6, GPR68, REM2, IL25, PSMC1, CDH24, RPS6KL1, ZNF410, BRF1, ASPG, SDR39U1, EDDM3B, VASH1, GOLGA5, DNAAF2, CIDEB, FBLN5, TMEM260, MIDEAS, MIR376A1, CTSG, KLHDC2, EXOC5, HHIPL1, NPAS3, DLK1, PIP4P1, ATG2B, BEGAIN, TTLL5, PRKCH, ZC2HC1C, MTA1, MIR134, AMN, SIX1, COX8C, ARMH4, RIPK3, SPTSSA, FRMD6, OR11G2, AP5M1, IFT43, RNASE7, NDRG2, TRA, PTCSC3, EAPP, TMEM63C, IGHG1, GPHB5, OR6S1, COQ6, NFATC4, GPR135, LTB4R2, GNPNAT1, CCDC198, BAG5, GALC, SLC39A9, TRP-AGG2-6, MDP1, DGLUCY, WDR89, PELI2, SLC22A17, ARHGEF40, AREL1, ALDH6A1, IPO4, AP4S1, CEBPE, MIA2, HNRNPC, RAB15, CCDC85C, SERPINA6, MTHFD1, FUT8, RN7SL3, IFI27L2, C14orf28, PAX9, ENTPD5, MRPL52, MYH6, SYNDIG1L, CARMIL3, IFI27L1, RGS6, EML1, ADAM20, RD3L, SRP54, MIR203A, MBIP, TC2N, ATP5MJ, LRFN5, MYH7, LRR1, OR4L1, SLC24A4, OR11H12, NUBPL, ACTN1, OR11H4, NUDT14, PTGER2, PSMB11, SLC7A8, CYP46A1, ZBTB25, ACIN1, SCFD1, WDR20, PPM1A, SEL1L, HIF1A-AS2, SALL2, TDRD9, ATG14, ERG28, MIR376C, ALKBH1, GPHN, MIPOL1, RNF212B, TEDC1, L3HYPDH, LGMN, C14orf93, TTC6, BATF, DTD2, COCH, TRMT5, MIR431, PAPOLA, ACOT1, CDKN3, MLH3, RABGGTA, RBM23, GZMH, TMEM30B, PARP2, IGHG3, RTL1, RPL10L, TTC8, NUMB, ADCY4, FOXA1, ARG2, C14orf39, RTN1, NAA30, CEP128, RNASE10, NOXRED1, BCL2L2, CGRRF1, RPGRIP1, IFI27, RALGAPA1, RNASE6, MIR380, THTPA, NDUFB1, GON7, SMOC1, SNORD114-1, NKX2-8, NOP9, REC8, MEG8, NEDD8-MDP1, NEK9, RBM25, EXOC3L4, EXD2, LINC02914, SLIRP, TMED10, FERMT2, TOMM20L, VCPKMT, GPR132, CLEC14A, CHGA, ACOT4, SERPINA11, IGHA2, ZC3H14, OR4K15, RPS6KA5, SERPINA10, RHOJ, VTI1B, IGH, WDR25, PTGDR, SFTA3, BBOF1, GPX2, TSHR, YLPM1, ADSS1, FAM177A1, SAMD15, OXA1L, CPSF2, FANCM, PPP1R13B, PNP, TEP1, CKB, SRSF5, KCNH5, JDP2, SGPP1, ZNF219, ZBTB42, EFCAB11, SERPINA2, VRK1, DIO3OS, PSMA3, LTBP2, MARK3, SNAPC1, CLBA1, ACOT2, CFL2, ANKRD9, TTC7B, RNASE1, TSSK4, OR4N2, HEATR5A, METTL3, AK7, SLC7A7, RNASE4, ANGEL1, NOVA1, IGHV3-23, ZFP36L1, HAUS4, RTRAF
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
31.
GRCh37:
Chr14:19280733-107287663
RNASE4, CNIH1, KLHL28, DHRS1, TXNDC16, ERG28, VTI1B, TEX22, BTBD7, TDRD9, RNF212B, IRF9, NPC2, YLPM1, ZFYVE26, OTUB2, SERPINA2, EIF2B2, MYH6, BCL2L2, PALS1, PPP4R4, BCL2L2-PABPN1, PRIMA1, ACOT1, SNHG10, EFS, NEDD8-MDP1, TIMM9, IGHV3-23, CEP170B, ACTN1, VRK1, TOGARAM1, MLH3, BTBD6, TGM1, RNASE9, HNRNPC, VSX2, BRF1, OR4L1, FOXA1, GPR65, AKAP6, WARS1, NYNRIN, TGFB3, MIR495, TM9SF1, PSME1, LINC01599, NEDD8, HEATR5A, TMEM30B, MOK, TDP1, KCNK13, FOXN3, BDKRB2, BMP4, LINC01588, DIO3, ZNF839, MEG3, RABGGTA, PCNX1, MAPK1IP1L, KLHL33, KHNYN, ITPK1, TC2N, MNAT1, DMAC2L, CHURC1, RNASE7, ASB2, CYP46A1, PARP2, ZNF410, OSGEP, ABHD12B, ANKRD9, EAPP, KIAA0586, FAM181A, SALL2, OR4N2, SLC25A29, NOXRED1, MTHFD1, GNPNAT1, GMPR2, NOVA1, VIPAS39, DHRS4, ZC2HC1C, PRMT5, OR4M1, RCOR1, TTC7B, SAV1, SEC23A, SLC10A1, KLHDC2, C14orf39, MRPL52, PAX9, SERPINA10, MAX, RN7SL1, RAD51B, PPP1R13B, CHURC1-FNTB, KIF26A, AKAP5, DCAF4, DHRS2, FAM161B, CGRRF1, MIR376C, BAZ1A, NKX2-8, INF2, OR4K2, MOAP1, TTC8, BAG5, NUDT14, ARHGEF40, SNORD113-1, PROX2, DTD2, HAUS4, RD3L, GNG2, RDH12, SAMD4A, RN7SL2, ARMH4, SERPINA3, RNASE6, OXA1L, MGAT2, PRKCH, FBXO34, SLC22A17, ACYP1, RHOJ, TRT-TGT3-1, AP4S1, PABPN1, TSSK4, ZBTB25, PELI2, DCAF11, OR11H4, LRFN5, OR4E2, REM2, AK7, RNASE11, IFT43, LOC101929572, NFATC4, ATP6V1D, EIF2S1, SMOC1, SLC7A8, GPHB5, LIN52, FLRT2, ARG2, DACT1, IGHE, RNASE1, TMEM179, SLC7A7, SERPINA11, DNAAF2, MIR376B, CEP128, FUT8, SYNE2, NDUFB1, RNASE2, AMN, PIP4P1, FNTB, DAAM1, EXD2, SLC8A3, ASPG, PRKD1, CHGA, POLE2, TCL6, TSHR, PAPOLA-DT, C14orf119, PNP, GPR33, TRMT5, RGS6, CHD8, OR4K14, RAB2B, ABCD4, ACOT4, C14orf180, STON2, WDR25, ZFHX2, PTCSC3, ERO1A, ENTPD5, SNORD114-1, CLEC14A, LYSET, MIR208B, RIPK3, ZFP36L1, ALKBH1, OR10G3, PLEK2, SOS2, BEGAIN, GMFB, VRTN, CDCA4, FERMT2, NEK9, SIVA1, FCF1, MEG8, CCNK, VASH1, FRMD6, SYNE3, CATSPERB, FBLN5, YY1, ARID4A, NAA30, DLK1, IRF2BPL, ERH, SYT16, TMEM260, C14orf28, MIR410, SERPINA4, CMA1, LRRC74A, CFL2, ADSS1, RNF31, TCL1A, MAP4K5, ISM2, DAD1, SIX1, NKX2-1, PSMA6, JPH4, SERPINA9, EDDM3B, RPS29, CDKL1, RPPH1, IGHA2, PSMC6, DIO2, TTC5, PGF, AHNAK2, POTEG, DDHD1, PTPN21, SLC35F4, INSM2, PPM1A, SPTB, LGMN, SNORD112, EXOC5, EMC9, WDR89, MYH7, OR11H2, FITM1, GPR135, CDKN3, MIR369, MIR376A2, DHRS4L2, RN7SL3, PPP1R36, IGHG2, TRA, SLC39A9, LTB4R2, GPR137C, SIX4, GALNT16, RNASE12, RPS6KL1, MIDEAS, PACS2, RNASE10, JAG2, THTPA, TEDC1, PIGH, ZDHHC22, NUBPL, NGB, ATL1, BBOF1, SUSD6, PAPOLA, CTSG, SOCS4, MIR409, IGH, OR10G2, RPL10L, IFI27L2, ADCK1, NEMF, SLC25A21, HIF1A-AS2, PNMA1, DLGAP5, SRP54, TOX4, VCPKMT, RTL1, RTRAF, SLC25A47, UNC79, OTX2, EGLN3, PCNX4, MARK3, SUPT16H, DHRS4L1, IGHD3-3, GOLGA5, TRAPPC6B, IGHM, TEP1, NFKBIA, HEATR4, CEBPE, PCK2, ESRRB, CPNE6, CBLN3, FOS, ANG, MIR136, TTC9, AHSA1, PAPLN, BCL11B, CIDEB, L3HYPDH, L2HGDH, TECPR2, PSMB11, ABHD4, MTA1, GALC, RDH11, TNFAIP2, METTL3, RTN1, TRAF3, BATF, ACTR10, ADAM21, PRPF39, FLVCR2, GCH1, CINP, KTN1, TMEM121, MBIP, SCFD1, ACOT6, AJUBA, EML1, PTGER2, HSPA2, MIA2, ADAM20, IGHG4, TMED8, ATG14, PLEKHD1, OR6S1, SLC39A2, ACOT2, NOP9, RBM23, MIR380, NUMB, RALGAPA1, MIPOL1, KLHDC1, MIS18BP1, TRP-AGG2-5, GPR132, TTLL5, RNASE3, JDP2, TMX1, GEMIN2, TMEM253, CKB, OR11G2, COQ6, BRMS1L, OR4K13, KLC1, PSMB5, ACIN1, CCNB1IP1, RNASE13, ATP5MJ, DEGS2, SRSF5, NGDN, HSP90AA1, TMED10, MIR487B, CRIP1, RBM25, SIX6, LGALS3, SAMD15, GON7, MDP1, GPR68, RIOX1, JKAMP, GLRX5, LINC02914, PRORP, CCDC88C, MAP3K9, SLC38A6, TOMM20L, NRL, DDX24, CCDC175, CDH24, C14orf178, MIR431, XRCC3, SYNJ2BP, MIR203A, MIR376A1, NPAS3, RIN3, IGHG3, SIPA1L1, PNN, MMP14, GSKIP, RPGRIP1, RPS6KA5, PPP4R3A, MIR433, PSEN1, FAM177A1, CLBA1, TCL1B, AKT1, LRP10, SNW1, ATXN3, MED6, OR4K17, ZC3H14, COX16, HECTD1, GTF2A1, AREL1, ESR2, OR11H6, HIF1A, STRN3, IFI27L1, FANCM, RNASE8, EDDM3A, CCDC177, PPP2R5E, ZBTB42, GZMH, KCNH5, EIF5, CRIP2, EML5, DIO3OS, BDKRB1, MIR208A, NIN, ARF6, PPP2R5C, METTL17, LTBP2, TRMT61A, DLST, CARMIL3, SPTLC2, MDGA2, PPP2R3C, DNAL1, OR4K1, IPO4, HOMEZ, SNX6, PLEKHH1, GSTZ1, SETD3, C14orf93, SEL1L, POTEM, CMTM5, DGLUCY, ZFYVE21, IL25, ALDH6A1, CDC42BPB, CCDC198, WDR20, G2E3, OR4N5, SERPINA6, PSMA3, IGHA1, APEX1, RAB15, CCDC85C, ATG2B, ARHGAP5, UBR7, STXBP6, DCAF5, EFCAB11, HHIPL1, COX8C, ZFYVE1, FSCB, DHRS7, TPPP2, IGHG1, ANGEL1, AP1G2, CIPC, CALM1, SERPINA5, IGHD, OR5AU1, SDR39U1, COA8, STYX, REC8, SPTSSA, MIR134, PTGR2, SLIRP, POMT2, FBXO33, GARIN2, PLEKHG3, ZBTB1, SFTA3, NID2, CLMN, CHMP4A, AP5M1, DYNC1H1, TINF2, TRL-AAG2-3, PLD4, PYGL, GPATCH2L, PSME2, LTB4R, NDRG2, OR4K5, SLC24A4, SPATA7, OR4K15, GPHN, ISCA2, PPP1R3E, PTGDR, SSTR1, GSC, TTC6, C14orf132, FKBP3, IFI27, NRDE2, EXOC3L4, SGPP1, RPL36AL, MIR127, TRP-AGG2-6, TBPL2, ZNF219, DPF3, TRIM9, PSMC1, GPX2, SNAPC1, TMEM63C, OR4Q3, TMEM229B, OR11H12, SERPINA12, DICER1, WDHD1, CPSF2, COCH, GZMB, SERPINA1, TRIP11, KCNK10, MIR370, EVL, LRR1, ADCY4, SYNDIG1L, FOXG1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
32.
GRCh37:
Chr14:19000422-107289053
RBM23, CHURC1-FNTB, METTL17, CPSF2, PYGL, SERPINA2, MTHFD1, RNF212B, PNN, PSMB11, DCAF5, ALDH6A1, PPP2R5E, BDKRB1, LGMN, RPL10L, SERPINA5, PPP2R5C, PABPN1, ZBTB1, NGB, ARID4A, PRORP, C14orf180, FOS, SLC7A8, PNP, IGHA2, SYNJ2BP, MDP1, PAX9, FSCB, ZBTB42, OR4K15, GEMIN2, BBOF1, TEDC1, G2E3, AP1G2, MIR376C, SGPP1, KLC1, SNHG10, RN7SL2, BATF, MGAT2, NOP9, EIF5, PACS2, HNRNPC, DLGAP5, TRL-AAG2-3, ARHGEF40, SIPA1L1, TTC9, ANKRD9, RNASE11, RABGGTA, LIN52, GPR132, PCNX1, OR11H2, MRPL52, WDR89, ASPG, AP5M1, MYH7, OTUB2, EML5, ERO1A, ZFYVE26, KLHL33, NDUFB1, DHRS2, SLC25A21, ESR2, MYH6, EXOC5, WARS1, CMA1, AP4S1, C14orf119, DIO3, MIR487B, GPATCH2L, CDC42BPB, TNFAIP2, OR4M1, SLC25A29, VRTN, GZMH, IFI27L1, TMEM179, PALS1, GNPNAT1, TMX1, LINC01599, TXNDC16, PSME2, LTB4R, RNASE13, HEATR5A, ADCY4, WDR25, MARK3, SPTLC2, ERG28, SPTB, RPS6KA5, ATG2B, LRP10, MAP3K9, LRR1, SPTSSA, SLC22A17, PTPN21, OR11H12, OTX2, NFATC4, PARP2, OR4K13, PSMA6, RAB15, RNASE6, SAV1, ESRRB, TRA, EFS, NKX2-1, TTC5, TRMT5, CTSG, SNAPC1, RNASE1, IGHD3-3, PAPOLA-DT, IGHD, POLE2, PRKD1, LINC02914, SIX6, CLMN, RPS29, SNORD114-1, CDCA4, FANCM, MIA2, DEGS2, HAUS4, VCPKMT, MED6, AMN, PSME1, RNASE2, IRF2BPL, OR4K1, SOS2, KLHL28, SLC24A4, CCNB1IP1, GZMB, FBLN5, COQ6, DHRS4, AK7, IGHG2, RHOJ, PGF, NUBPL, IGHG1, NEMF, OR6S1, EXOC3L4, AJUBA, BCL2L2, TCL1A, RDH11, EIF2B2, PCNX4, GALC, TMEM229B, ZNF219, SLC39A2, TBPL2, TTC8, SERPINA12, ABHD4, LTB4R2, RNF31, TMED8, IGHG3, RPL36AL, GNG2, ATXN3, NFKBIA, MIR370, HHIPL1, IGH, CCDC198, PTCSC3, SLC39A9, L2HGDH, MIR127, C14orf178, KLHDC2, ZFP36L1, YY1, DDHD1, COCH, HEATR4, GPR68, SDR39U1, GMPR2, CIPC, CGRRF1, JPH4, SERPINA6, CHMP4A, IGHA1, MIR376A1, TGM1, TMEM30B, BAG5, POMT2, ARHGAP5, RIOX1, PPP2R3C, IFI27L2, SMOC1, DIO2, HIF1A-AS2, PPP1R13B, GPR33, JKAMP, POTEG, OR4L1, TOMM20L, PTGR2, MIR495, VRK1, RNASE3, MIPOL1, EFCAB11, DLST, WDHD1, IPO4, CRIP2, EAPP, POTEM, ZNF410, SPATA7, MTA1, ADAM21, PLEKHG3, MIR431, GSKIP, SETD3, FAM161B, GPR135, NPAS3, FOXN3, SIX4, TRMT61A, CKB, TTC7B, GALNT16, TMEM253, IL25, BMP4, TCL1B, ZBTB25, MIR380, YLPM1, MEG8, FRMD6, SERPINA3, OR4K2, METTL3, DAAM1, CCDC88C, GARIN2, UNC79, FLRT2, PIP4P1, KLHDC1, MIR433, WDR20, NDRG2, RN7SL3, TDP1, CEP170B, MLH3, ZDHHC22, SYT16, FOXA1, RTRAF, NOXRED1, TOGARAM1, IGHG4, NOVA1, HSPA2, TSSK4, KCNK13, DCAF4, COX8C, DHRS4L2, FLVCR2, CPNE6, RPGRIP1, STXBP6, KIAA0586, CYP46A1, IRF9, MAP4K5, PSMC6, STON2, SLC38A6, TC2N, EIF2S1, OSGEP, RBM25, PAPOLA, MEG3, NEK9, NID2, TSHR, ANG, MIDEAS, MIR134, RIN3, STYX, C14orf93, MIR208B, MIR136, SERPINA1, C14orf132, MIR369, SERPINA4, ADSS1, BAZ1A, OR10G3, OR10G2, PPP4R3A, GCH1, TDRD9, NEDD8, ISM2, SRP54, MOK, SOCS4, KCNK10, ACOT1, VIPAS39, NPC2, EGLN3, SEL1L, OR4E2, ACTR10, FOXG1, ZFHX2, ZC3H14, TRP-AGG2-6, REC8, SNORD112, DGLUCY, ZC2HC1C, MOAP1, EDDM3B, TRP-AGG2-5, ANGEL1, ATG14, AKAP6, ACOT2, ISCA2, LRFN5, RNASE10, FKBP3, SLC25A47, TRAF3, SUSD6, AREL1, CMTM5, RAB2B, TEX22, BRF1, ARG2, CCDC177, HIF1A, CRIP1, CEBPE, DNAAF2, MIR208A, RNASE4, KHNYN, TRAPPC6B, TMED10, BTBD7, GPX2, TTLL5, ZFYVE1, ADAM20, TMEM260, ERH, SNX6, OR5AU1, RD3L, AKAP5, MIS18BP1, TCL6, CHURC1, GSTZ1, CHD8, CCNK, EML1, SERPINA10, SSTR1, FAM181A, SALL2, PAPLN, RAD51B, FITM1, TOX4, LINC01588, INSM2, SFTA3, GPHN, LTBP2, HSP90AA1, DTD2, GON7, GLRX5, PSMA3, EDDM3A, PELI2, APEX1, ATP5MJ, IGHE, RNASE12, PCK2, VSX2, CINP, EXD2, PPP1R3E, PLEKHH1, FCF1, SAMD4A, RALGAPA1, ZFYVE21, FERMT2, SEC23A, SLIRP, PSEN1, SLC10A1, ACOT4, DNAL1, XRCC3, CCDC85C, PLEKHD1, RNASE9, GPR137C, CFL2, MIR376B, ACOT6, CLBA1, AHSA1, FAM177A1, UBR7, FUT8, AHNAK2, FBXO33, IGHV3-23, TRT-TGT3-1, MAX, CDKL1, JDP2, MMP14, RIPK3, IFT43, BCL11B, GSC, NAA30, LYSET, SLC8A3, IFI27, NRDE2, GPR65, ACTN1, SLC7A7, OR4N2, IGHM, OR4Q3, BTBD6, STRN3, SERPINA9, TPPP2, CLEC14A, PTGER2, ARMH4, RTN1, FBXO34, MNAT1, CARMIL3, MDGA2, PLEK2, RTL1, PRKCH, L3HYPDH, ADCK1, CIDEB, KCNH5, BRMS1L, TM9SF1, MAPK1IP1L, NIN, ARF6, PPP4R4, OR11H4, ASB2, THTPA, FNTB, RCOR1, PRMT5, GMFB, C14orf39, TGFB3, PTGDR, CCDC175, EMC9, ENTPD5, ACIN1, SIVA1, DHRS4L1, ABCD4, NYNRIN, REM2, JAG2, MIR376A2, ZNF839, LRRC74A, DMAC2L, NGDN, DDX24, C14orf28, DICER1, HOMEZ, GPHB5, SCFD1, PRPF39, PIGH, KIF26A, NRL, MIR410, BDKRB2, EVL, NEDD8-MDP1, CALM1, GOLGA5, SNORD113-1, SRSF5, PNMA1, DHRS1, RPPH1, DAD1, LGALS3, RPS6KL1, TIMM9, PSMC1, TECPR2, GTF2A1, SERPINA11, MIR203A, BCL2L2-PABPN1, MBIP, MIR409, TTC6, ATP6V1D, CBLN3, OXA1L, BEGAIN, AKT1, KTN1, SYNE3, VTI1B, OR4N5, ABHD12B, ALKBH1, SYNDIG1L, TRIP11, TMEM121, SUPT16H, PLD4, PROX2, PPP1R36, TMEM63C, OR11G2, SLC35F4, RNASE7, SAMD15, VASH1, PRIMA1, OR11H6, TINF2, NUMB, DHRS7, DACT1, LOC101929572, DPF3, DIO3OS, CDKN3, SYNE2, OR4K17, RNASE8, CHGA, NUDT14, RDH12, PPM1A, RGS6, HECTD1, TRIM9, OR4K5, COX16, SIX1, CEP128, ATL1, NKX2-8, ITPK1, TEP1, CATSPERB, RN7SL1, CDH24, INF2, DCAF11, OR4K14, COA8, CNIH1, DYNC1H1, ACYP1, SNW1, PSMB5, DLK1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
33.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not specifiedBenign
(May 3, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr14:84783137-96908198
not providedPathogenic
(Nov 9, 2017)
no assertion criteria provided
35.
GRCh37:
Chr14:20511673-107285437
EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, G2E3, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HIF1A-AS2, HNRNPC, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LRFN5, LRP10, LRR1, LRRC74A, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, METTL17, METTL3, MGAT2, MIA2, MIDEAS, MIPOL1, MIR127, MIR134, MIR136, MIR203A, MIR208A, MIR208B, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-8, NOP9, NOVA1, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NUBPL, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6S1, OSGEP, OTUB2, OTX2, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKD1, PRMT5, PRORP, PROX2, PRPF39, PSEN1, PSMA3, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SAMD15, SAMD4A, SAV1, SCFD1, SDR39U1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOX4, TPPP2, TRA, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRL-AAG2-3, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DHRS7, DICER1, DIO2, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGLN3, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
36.
GRCh37:
Chr14:73750741-107285437
ABCD4, ACOT1, ACOT2, ACOT4, ACOT6, ACYP1, ADCK1, ADSS1, AHNAK2, AHSA1, AK7, AKT1, ALDH6A1, ALKBH1, AMN, ANGEL1, ANKRD9, AREL1, ASB2, ASPG, ATG2B, ATP5MJ, ATXN3, BAG5, BATF, BBOF1, BCL11B, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf132, C14orf178, C14orf180, CALM1, CATSPERB, CCDC85C, CCDC88C, CCNK, CDC42BPB, CDCA4, CEP128, CEP170B, CHGA, CINP, CIPC, CKB, CLBA1, CLMN, COA8, COQ6, COX8C, CPSF2, CRIP1, CRIP2, CYP46A1, DDX24, DEGS2, DGLUCY, DICER1, DIO2, DIO3, DIO3OS, DLK1, DLST, DNAL1, DYNC1H1, EFCAB11, EIF2B2, EIF5, EML1, EML5, ENTPD5, ERG28, ESRRB, EVL, EXOC3L4, FAM161B, FAM181A, FBLN5, FCF1, FLRT2, FLVCR2, FOS, FOXN3, GALC, GLRX5, GOLGA5, GON7, GPATCH2L, GPR132, GPR65, GPR68, GSC, GSKIP, GSTZ1, GTF2A1, HEATR4, HHIPL1, HSP90AA1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, INF2, IRF2BPL, ISCA2, ISM2, ITPK1, JAG2, JDP2, KCNK10, KCNK13, KIF26A, KLC1, LGMN, LIN52, LINC02914, LRRC74A, LTBP2, MARK3, MEG3, MEG8, MIDEAS, MIR127, MIR134, MIR136, MIR203A, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MLH3, MOAP1, MOK, MTA1, NDUFB1, NEK9, NGB, NOXRED1, NPC2, NRDE2, NUDT14, NUMB, OTUB2, PACS2, PAPOLA, PAPOLA-DT, PGF, PLD4, PNMA1, POMT2, PPP1R13B, PPP2R5C, PPP4R3A, PPP4R4, PRIMA1, PROX2, PSMC1, PTGR2, PTPN21, RCOR1, RD3L, RIN3, RIOX1, RPS6KA5, RPS6KL1, RTL1, SAMD15, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIVA1, SLC24A4, SLC25A29, SLC25A47, SLIRP, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SPATA7, SPTLC2, STON2, SYNDIG1L, SYNE3, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEX22, TGFB3, TMED10, TMED8, TMEM121, TMEM179, TMEM251, TMEM63C, TNFAIP2, TRAF3, TRIP11, TRMT61A, TSHR, TTC7B, TTC8, TTLL5, UBR7, UNC79, VASH1, VIPAS39, VRK1, VRTN, VSX2, WARS1, WDR20, WDR25, XRCC3, YLPM1, YY1, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFYVE21, ZNF410, ZNF839
See casesPathogenic
(Jun 22, 2015)
no assertion criteria provided
37.
GRCh37:
Chr14:92537353-92537354
GRCh38:
Chr14:92071009-92071010
ATXN3G127fs, G185fs, G255fs, P25fs, P40fs, G251fs, P95fs, G291fs, P146fs, G236fs, G306fs, P80fsnot specifiedUncertain significance
(Mar 29, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr14:19794561-107234280
DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGLN3, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO33, FBXO34, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLVCR2, FNTB, FOS, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, G2E3, GALC, GALNT16, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSKIP, GSTZ1, GTF2A1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HIF1A-AS2, HNRNPC, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, JAG2, JDP2, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, L2HGDH, L3HYPDH, LGALS3, LGMN, LIN52, LINC01588, LINC01599, LINC02914, LRFN5, LRP10, LRR1, LRRC74A, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, METTL17, METTL3, MGAT2, MIA2, MIDEAS, MIPOL1, MIR127, MIR134, MIR136, MIR203A, MIR208A, MIR208B, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR380, MIR409, MIR410, MIR431, MIR433, MIR487B, MIR495, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-8, NOP9, NOVA1, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NUBPL, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H2, OR11H4, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OTX2, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPOLA, PAPOLA-DT, PARP2, PAX9, PCK2, PCNX1, PCNX4, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, POTEM, PPM1A, PPP1R13B, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKD1, PRMT5, PRORP, PROX2, PRPF39, PSEN1, PSMA3, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SAMD15, SAMD4A, SAV1, SCFD1, SDR39U1, SEC23A, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNORD112, SNORD113-1, SNORD114-1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SPTSSA, SRP54, SRSF5, SSTR1, STON2, STRN3, STXBP6, STYX, SUPT16H, SUSD6, SYNDIG1L, SYNE2, SYNE3, SYNJ2BP, SYT16, TBPL2, TC2N, TCL1A, TCL1B, TCL6, TDP1, TDRD9, TECPR2, TEDC1, TEP1, TEX22, TGFB3, TGM1, THTPA, TIMM9, TINF2, TM9SF1, TMED10, TMED8, TMEM121, TMEM179, TMEM229B, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOGARAM1, TOMM20L, TOX4, TPPP2, TRA, TRAF3, TRAPPC6B, TRIM9, TRIP11, TRL-AAG2-3, TRMT5, TRMT61A, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC8, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VCPKMT, VIPAS39, VRK1, VRTN, VSX2, VTI1B, WARS1, WDHD1, WDR20, WDR25, WDR89, XRCC3, YLPM1, YY1, ZBTB1, ZBTB25, ZBTB42, ZC2HC1C, ZC3H14, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC198, CCDC85C, CCDC88C, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, DHRS7, DICER1, DIO2, DIO3
See casesPathogenicno assertion criteria provided
39.
GRCh37:
Chr14:92537354-92537355
GRCh38:
Chr14:92071010-92071011
ATXN3, LOC108663987not specifiedBenign
(May 5, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr14:92537354
GRCh38:
Chr14:92071010
ATXN3not specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr14:92537386-92537388
GRCh38:
Chr14:92071042-92071044
ATXN3, LOC108663987K295del, K116del, K12del, K174del, K225del, K240del, K280del, K82del, K27del, K67del, K133del, K244delnot specifiedUncertain significance
(Jul 15, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr14:92559626
GRCh38:
Chr14:92093282
ATXN3H119Q, H49Q, H64Q, H104Qnot specifiedUncertain significance
(Jun 27, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr14:92537382-92537384
GRCh38:
Chr14:92071038-92071040
ATXN3, LOC108663987Azorean diseasePathogenic
(Sep 24, 2015)
no assertion criteria provided
44.
GRCh37:
Chr14:92537382-92537384
GRCh38:
Chr14:92071038-92071040
LOC108663987, ATXN3Azorean diseaseBenign
(Sep 24, 2015)
no assertion criteria provided
45.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-64D, IGHV3-66, IGHV3-7, IGHV3-72, IGHV3-73, IGHV3-74, IGHV4-28, IGHV4-30-2, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-10-1, IGHV5-51, IGHV6-1, IGHV7-4-1, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, IRF9, ISCA2, ISM2, ITPK1, ITPK1-AS1, JAG2, JDP2, JDP2-AS1, JKAMP, JPH4, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0586, KIF26A, KIF26A-DT, KLC1, KLHDC1, KLHDC2, KLHL28, KLHL33, KTN1, KTN1-AS1, L2HGDH, L3HYPDH, LBHD2, LGALS3, LGMN, LIN52, LINC00216, LINC00221, LINC00226, LINC00239, LINC00341, LINC00517, LINC00519, LINC00520, LINC00523, LINC00524, LINC00596, LINC00605, LINC00609, LINC00618, LINC00638, LINC00639, LINC00640, LINC00641, LINC00642, LINC00643, LINC00644, LINC00645, LINC00648, LINC00677, LINC00871, LINC00911, LINC01147, LINC01148, LINC01220, LINC01269, LINC01303, LINC01467, LINC01500, LINC01550, LINC01551, LINC01588, LINC01599, LINC01629, LINC02274, LINC02280, LINC02281, LINC02282, LINC02284, LINC02285, LINC02286, LINC02287, LINC02288, LINC02289, LINC02290, LINC02291, LINC02292, LINC02293, LINC02294, LINC02295, LINC02296, LINC02298, LINC02299, LINC02300, LINC02301, LINC02302, LINC02303, LINC02304, LINC02305, LINC02307, LINC02308, LINC02309, LINC02310, LINC02311, LINC02312, LINC02313, LINC02314, LINC02315, LINC02316, LINC02317, LINC02318, LINC02319, LINC02320, LINC02321, LINC02322, LINC02323, LINC02324, LINC02325, LINC02326, LINC02327, LINC02328, LINC02329, LINC02330, LINC02331, LINC02332, LINC02691, LINC02833, LINC02914, LINC03033, LOC100289511, LOC100506071, LOC100506321, LOC100506358, LOC100506499, LOC100996664, LOC101927045, LOC101927178, LOC101927418, LOC101927690, LOC101928143, LOC101929718, LOC102723604, LOC105370457, LOC105370473, LOC105370489, LOC105370579, LOC105370586, LOC105370619, LOC105370622, LOC105370687, LOC105370697, LOC105370705, LOC105378183, LOC106799836, LOC106799848, LOC106799849, LOC107372315, LOC107882126, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, LOC109433677, LOC109433679, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112163679, LOC112163680, LOC112163681, LOC112163682, LOC112163683, LOC112163684, LOC112163685, LOC112214170, LOC112214171, LOC112214174, LOC112214175, LOC112214176, LOC112267849, LOC112267850, LOC112267851, LOC112267852, LOC112267853, LOC112267854, LOC112268136, LOC112268140, LOC112268478, LOC112268479, LOC112268480, LOC112268481, LOC112268482, LOC112268483, LOC112268484, LOC112268485, LOC112268486, LOC112272545, LOC112272546, LOC112272548, LOC112272549, LOC112272550, LOC112272551, LOC112272552, LOC112272553, LOC112272554, LOC112272555, LOC112272556, LOC112272557, LOC112272558, LOC112272559, LOC112272560, LOC112272561, LOC112272566, LOC112272567, LOC112272568, LOC112272569, LOC112272570, LOC112272571, LOC112272572, LOC112272573, LOC113939940, LOC113939941, LOC114827851, LOC116268458, LOC116268459, LOC116268460, LOC116268461, LOC116268462, LOC116268463, LOC116268464, LOC121468008, LOC121468009, LOC121468010, LOC121468011, LOC121468012, LOC121468013, LOC121468014, LOC121468015, LOC121468016, LOC121529649, LOC121529650, LOC121529651, LOC121529652, LOC121529653, LOC121529654, LOC121529655, LOC121529656, LOC121529657, LOC121529658, LOC121529659, LOC121529660, LOC121838585, LOC121838586, LOC121838587, LOC121838588, LOC121838589, LOC121838590, LOC121838591, LOC121838592, LOC121838593, LOC121838594, LOC121838595, LOC121838596, LOC121838597, LOC121838598, LOC121838599, LOC121838600, LOC121838601, LOC121838602, LOC145474, LOC400212, LRFN5, LRP10, LRR1, LRRC74A, LRRC9, LTB4R, LTB4R2, LTBP2, LYSET, MAP3K9, MAP3K9-DT, MAP4K5, MAPK1IP1L, MARK3, MAX, MBIP, MDGA2, MDP1, MED6, MEG3, MEG8, MEG9, METTL17, METTL3, MGAT2, MHRT, MIA2, MIA2-AS1, MIDEAS, MIDEAS-AS1, MIPOL1, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR12121, MIR1247, MIR1260A, MIR127, MIR134, MIR136, MIR151B, MIR154, MIR203A, MIR203B, MIR208A, MIR208B, MIR2392, MIR299, MIR300, MIR3171, MIR3171HG, MIR3173, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR342, MIR345, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR4307, MIR4307HG, MIR4308, MIR4309, MIR431, MIR432, MIR433, MIR4503, MIR4504, MIR4505, MIR4506, MIR4507, MIR4537, MIR4538, MIR4539, MIR4706, MIR4707, MIR4708, MIR4709, MIR4710, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR5195, MIR539, MIR541, MIR543, MIR544A, MIR548H1, MIR548Y, MIR5580, MIR5586, MIR5694, MIR6076, MIR624, MIR625, MIR654, MIR655, MIR656, MIR665, MIR668, MIR6717, MIR6764, MIR6765, MIR758, MIR7641-2, MIR770, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR8071-2, MIR889, MIR9718, MIS18BP1, MLH3, MMP14, MNAT1, MOAP1, MOK, MRPL52, MTA1, MTA1-DT, MTHFD1, MYH6, MYH7, NAA30, NDRG2, NDUFB1, NEDD8, NEDD8-MDP1, NEK9, NEMF, NFATC4, NFKBIA, NGB, NGDN, NID2, NIN, NKX2-1, NKX2-1-AS1, NKX2-8, NOP9, NOVA1, NOVA1-DT, NOXRED1, NPAS3, NPC2, NRDE2, NRL, NRXN3, NUBPL, NUBPL-DT, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E1, OR4E2, OR4K17, OR4L1, OR4N5, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OTX2, OTX2-AS1, OXA1L, PABPN1, PACS2, PALS1, PAPLN, PAPLN-AS1, PAPOLA, PAPOLA-DT, PARP2, PAX9, ABCD4, ABHD12B, ABHD4, ACIN1, ACOT1, ACOT2, ACOT4, ACOT6, ACTN1, ACTN1-DT, ACTR10, ACYP1, ADAM20, ADAM21, ADCK1, ADCY4, ADSS1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AKT1, ALDH6A1, ALKBH1, AMN, ANG, ANGEL1, ANKRD9, AP1G2, AP1G2-AS1, AP4S1, AP5M1, APEX1, AREL1, ARF6, ARG2, ARHGAP5, ARHGAP5-AS1, ARHGEF40, ARID4A, ARMH4, ASB2, ASPG, ATG14, ATG2B, ATL1, ATP5MJ, ATP6V1D, ATXN3, BAG5, BATF, BAZ1A, BAZ1A-AS1, BBOF1, BCL11B, BCL2L2, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, BTBD7, C14orf119, C14orf132, C14orf178, C14orf180, C14orf28, C14orf39, C14orf93, C14orf99, CALM1, CARMIL3, CATSPERB, CBLN3, CCDC175, CCDC177, CCDC196, CCDC197, CCDC198, CCDC85C, CCDC88C, CCDC88C-DT, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CDKN3, CEBPE, CEP128, CEP170B, CFL2, CGRRF1, CHD8, CHGA, CHMP4A, CHURC1, CHURC1-FNTB, CIDEB, CINP, CIPC, CIROP, CKB, CLBA1, CLEC14A, CLMN, CMA1, CMTM5, CNIH1, COA8, COCH, COQ6, COX16, COX8C, CPNE6, CPSF2, CRIP1, CRIP2, CTSG, CYP46A1, DAAM1, DACT1, DAD1, DCAF11, DCAF4, DCAF5, DDHD1, DDHD1-DT, DDX24, DEGS2, DGLUCY, DHRS1, DHRS2, DHRS4, DHRS4-AS1, DHRS4L1, DHRS4L2, DHRS7, DICER1, DICER1-AS1, DIO2, DIO2-AS1, DIO3, DIO3OS, DLGAP5, DLK1, DLST, DMAC2L, DNAAF2, DNAL1, DPF3, DTD2, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, EGILA, EGLN3, EGLN3-AS1, EIF2B2, EIF2S1, EIF5, EMC9, EML1, EML5, ENTPD5, ERG28, ERH, ERO1A, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM177A1, FAM181A, FAM181A-AS1, FAM30A, FANCM, FBLN5, FBXO33, FBXO34, FBXO34-AS1, FCF1, FERMT2, FITM1, FKBP3, FLRT2, FLRT2-AS1, FLVCR2, FLVCR2-AS1, FNTB, FOS, FOXA1, FOXG1, FOXG1-AS1, FOXN3, FOXN3-AS1, FOXN3-AS2, FRMD6, FRMD6-AS1, FRMD6-AS2, FSCB, FUT8, FUT8-AS1, G2E3, G2E3-AS1, GALC, GALNT16, GALNT16-AS1, GARIN2, GCH1, GEMIN2, GLRX5, GMFB, GMPR2, GNG2, GNPNAT1, GOLGA5, GON7, GPATCH2L, GPHB5, GPHN, GPR132, GPR135, GPR137C, GPR33, GPR65, GPR68, GPX2, GSC, GSC-DT, GSKIP, GSTZ1, GTF2A1, GTF2A1-AS1, GZMB, GZMH, HAUS4, HEATR4, HEATR5A, HEATR5A-DT, HECTD1, HHIPL1, HIF1A, HIF1A-AS1, HIF1A-AS2, HIF1A-AS3, HISLA, HNRNPC, HOMEZ, HSP90AA1, HSPA2, HSPA2-AS1, IFI27, IFI27L1, IFI27L2, IFT43, IGH, IGHA1, IGHA2, IGHD, IGHD1-1, IGHD1-14, IGHD1-20, IGHD1-26, IGHD1-7, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHD3-22, IGHD3-3, IGHD3-9, IGHD4-11, IGHD4-17, IGHD4-23, IGHD4-4, IGHD5-12, IGHD5-18, IGHD5-24, IGHD5-5, IGHD6-13, IGHD6-19, IGHD6-25, IGHD6-6, IGHD7-27, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ1, IGHJ2, IGHJ3, IGHJ4, IGHJ5, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-69-2, IGHV1-69D, IGHV2-26, IGHV2-5, IGHV2-70, IGHV2-70D, IGHV3-11, IGHV3-13, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, PCK2, PCNX1, PCNX4, PCNX4-DT, PELI2, PGF, PIGH, PIP4P1, PLD4, PLEK2, PLEKHD1, PLEKHG3, PLEKHH1, PNMA1, PNN, PNP, POLE2, POMT2, PPM1A, PPP1R13B, PPP1R13B-DT, PPP1R36, PPP1R3E, PPP2R3C, PPP2R5C, PPP2R5E, PPP4R3A, PPP4R4, PRIMA1, PRKCH, PRKCH-AS1, PRKD1, PRMT5, PRMT5-AS1, PRMT5-DT, PRORP, PROX2, PRPF39, PRPF39-DT, PSEN1, PSMA3, PSMA3-AS1, PSMA6, PSMB11, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTCSC3, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, RBM25-AS1, RCOR1, RD3L, RDH11, RDH12, REC8, REM2, RGS6, RHOJ, RIN3, RIOX1, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE10, RNASE11, RNASE11-AS1, RNASE12, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RNF212B, RNF31, RNU6-7, RNU6-8, RPGRIP1, RPL10L, RPL36AL, RPPH1, RPS29, RPS6KA5, RPS6KL1, RTL1, RTN1, RTRAF, SALL2, SALRNA1, SAMD15, SAMD4A, SAMD4A-AS1, SAV1, SCARNA13, SCFD1, SDR39U1, SEC23A, SEC23A-AS1, SEL1L, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA2, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIPA1L1-AS1, SIVA1, SIX1, SIX4, SIX6, SLC10A1, SLC22A17, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A29, SLC25A47, SLC35F4, SLC38A6, SLC39A2, SLC39A9, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNHG10, SNHG23, SNHG24, SNORA101B, SNORA11B, SNORA28, SNORA79, SNORA79B, SNORA89, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2,