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Items: 57

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:168775-24023234
not providedPathogenic
(Apr 16, 2018)
criteria provided, single submitterVCV000560067
2.
GRCh37:
Chr6:16306751
GRCh38:
Chr6:16306520
ATXN1P753Snot specifiedLikely benignno assertion criteria providedVCV000128499
3.
GRCh37:
Chr6:16306858
GRCh38:
Chr6:16306627
ATXN1A717Vnot specified, Spinocerebellar ataxia 1Likely benign
(Jul 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000522259
4.
GRCh37:
Chr6:16326891
GRCh38:
Chr6:16326660
ATXN1Q551*not providedUncertain significance
(Aug 7, 2017)
criteria provided, single submitterVCV000451257
5.
GRCh37:
Chr6:16327330
GRCh38:
Chr6:16327099
ATXN1not specifiedLikely benignno assertion criteria providedVCV000128498
6.
GRCh37:
Chr6:16327615
GRCh38:
Chr6:16327384
ATXN1not specifiedLikely benignno assertion criteria providedVCV000128506
7.
GRCh37:
Chr6:16327615
GRCh38:
Chr6:16327384
ATXN1not specifiedLikely benignno assertion criteria providedVCV000128505
8.
GRCh37:
Chr6:16327865-16327870
GRCh38:
Chr6:16327634-16327639
ATXN1, LOC108663993Spinocerebellar ataxia 1Benign
(Jul 19, 2016)
criteria provided, single submitterVCV000522332
9.
GRCh37:
Chr6:16327867
GRCh38:
Chr6:16327636
ATXN1, LOC108663993Q225Hnot specifiedLikely benignno assertion criteria providedVCV000128504
10.
GRCh37:
Chr6:16327897
GRCh38:
Chr6:16327666
ATXN1, LOC108663993Q215Hnot specifiedLikely benignno assertion criteria providedVCV000128503
11.
GRCh37:
Chr6:16327903-16327904
GRCh38:
Chr6:16327672-16327673
ATXN1, LOC108663993Spinocerebellar ataxia 1Benign
(Jul 8, 2016)
criteria provided, single submitterVCV000522260
12.
GRCh37:
Chr6:16327903
GRCh38:
Chr6:16327672
ATXN1, LOC108663993Q213Hnot specifiedLikely benignno assertion criteria providedVCV000128502
13.
GRCh37:
Chr6:16327906
GRCh38:
Chr6:16327675
ATXN1, LOC108663993Q212Hnot specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitterVCV000210507
14.
GRCh37:
Chr6:16327907-16327909
GRCh38:
Chr6:16327676-16327678
ATXN1, LOC108663993H211delnot specifiedUncertain significance
(Jul 15, 2014)
criteria provided, single submitterVCV000210506
15.
GRCh37:
Chr6:16327909
GRCh38:
Chr6:16327678
ATXN1, LOC108663993H211Qnot specifiedLikely benignno assertion criteria providedVCV000128501
16.
GRCh37:
Chr6:16327912
GRCh38:
Chr6:16327681
ATXN1, LOC108663993Q210Hnot specifiedUncertain significance
(Apr 4, 2014)
criteria provided, single submitterVCV000210505
17.
GRCh37:
Chr6:16327916-16327918
GRCh38:
Chr6:16327685-16327687
ATXN1, LOC108663993not specified, Spinocerebellar ataxia 1Benign/Likely benign
(Jul 10, 2015)
criteria provided, multiple submitters, no conflictsVCV000218439
18.
GRCh37:
Chr6:16327916-16327918
GRCh38:
Chr6:16327685-16327687
ATXN1, LOC108663993Q208delnot specifiedUncertain significance
(Jun 27, 2014)
criteria provided, single submitterVCV000210503
19.
GRCh37:
Chr6:16327918
GRCh38:
Chr6:16327687
ATXN1, LOC108663993Q208Hnot specifiedUncertain significance
(Jun 10, 2014)
criteria provided, single submitterVCV000210504
20.
GRCh37:
Chr6:16327918-16327920
GRCh38:
Chr6:16327687-16327689
ATXN1, LOC108663993Spinocerebellar ataxia 1Pathogenic
(Mar 1, 2002)
no assertion criteria providedVCV000008071
21.
GRCh37:
Chr6:16327921
GRCh38:
Chr6:16327690
ATXN1, LOC108663993Q207Hnot specifiedUncertain significance
(Jun 27, 2014)
criteria provided, single submitterVCV000210502
22.
GRCh37:
Chr6:16328068
GRCh38:
Chr6:16327837
ATXN1not specifiedLikely benignno assertion criteria providedVCV000128500
23.
GRCh37:
Chr6:16469060-16755939
ATXN1not providedLikely benign
(Feb 26, 2018)
criteria provided, single submitterVCV000560042
24.
GRCh37:
Chr6:16710750-16771465
ATXN1not providedBenign
(May 8, 2012)
no assertion criteria providedVCV000608854
25.
GRCh37:
Chr6:16634454-16773382
ATXN1not providedBenign
(Nov 8, 2012)
no assertion criteria providedVCV000608853
26.
GRCh37:
Chr6:16579372-16579733
ATXN1not providedBenign
(Nov 29, 2011)
no assertion criteria providedVCV000608852
27.
GRCh37:
Chr6:16391928-16405720
ATXN1not providedBenign
(Oct 21, 2014)
no assertion criteria providedVCV000608851
28.
GRCh37:
Chr6:16391575-16400090
ATXN1not providedBenign
(Aug 2, 2012)
no assertion criteria providedVCV000608850
29.
GRCh37:
Chr6:16391575-16399841
ATXN1not providedBenign
(Dec 6, 2011)
no assertion criteria providedVCV000608849
30.
GRCh37:
Chr6:16391575-16399680
ATXN1not providedBenign
(Jul 10, 2012)
no assertion criteria providedVCV000608848
31.
GRCh37:
Chr6:16391575-16399407
ATXN1not providedBenign
(Jun 27, 2012)
no assertion criteria providedVCV000608847
32.
GRCh37:
Chr6:16390939-16400090
ATXN1not providedBenign
(Dec 30, 2014)
no assertion criteria providedVCV000608846
33.
GRCh37:
Chr6:165632-170919470
MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, RPS6KA2, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, TRAF3IP2, AGPAT1, SLC35A1, SCGN, DNPH1, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, ICK, ENPP4, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, TSBP1, FARS2, FUT9, CNPY3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, GNMT, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MYLIP, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000608768
34.
GRCh37:
Chr6:108666-170980171
HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, HBS1L, AGPAT1, SLC35A1, SCGN, DNPH1, SLC17A3, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, ICK, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, PSMB8, PSMB9, PTK7, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000608767
35.
GRCh37:
Chr6:60107-171054786
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, RPS6KA2, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, HBS1L, AGPAT1, SLC35A1, SCGN, DNPH1, SLC17A3, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, ICK, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000608764
36.
GRCh37:
Chr6:16441703-16860111
ATXN1not providedUncertain significance
(Mar 6, 2018)
no assertion criteria providedVCV000563162
37.
GRCh37:
Chr6:156974-21955964
not providedPathogenic
(Feb 19, 2018)
no assertion criteria providedVCV000563140
38.
GRCh37:
Chr6:156975-170919482
GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, RPS6KA2, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, CRISP2, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, SLC17A3, AGPAT1, SLC35A1, SCGN, DNPH1, HBS1L, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, ICK, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189, ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000443497
39.
GRCh37:
Chr6:156975-170919482
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CCN2, EPB41L2, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, MCM3, LTB, MARCKS, MAK, MAN1A1, MAS1, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MYO6, MOG, MSH5, MMUT, MYB, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, PCMT1, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, RPS6KA2, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TBP, TAP1, TAP2, TAPBP, TBCC, TCF19, TCF21, TCP1, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, CRISP2, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, CCN6, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, TRDN, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, SLC17A3, AGPAT1, SLC35A1, SCGN, DNPH1, HBS1L, TSBP1, FARS2, FUT9, CNPY3, TRAF3IP2, RPP40, FRS3, PDE10A, SLC22A7, HCP5, RAB32, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, ENPP4, NRM, STK38, SCAF8, CEP162, ICK, ANKRD6, RIMS1, DOP1A, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, SNHG32, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, TENT5A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, POPDC3, GPSM3, FKBPL, KIF13A, PERP, SMOC2, ZSCAN31, ALDH8A1, ILRUN, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, C6orf62, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, MUCL3, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, ZUP1, TUBB, C6orf163, AK9, NT5DC1, CALHM4, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, ADGRF1, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000443496
40.
GRCh37:
Chr6:13693852-24225515
See casesPathogenic
(Feb 1, 2016)
no assertion criteria providedVCV000442457
41.
GRCh37:
Chr6:16350981-16598133
ATXN1See casesLikely benign
(Aug 26, 2015)
no assertion criteria providedVCV000442235
42.
GRCh37:
Chr6:16348584-16559316
ATXN1See casesLikely pathogenicno assertion criteria providedVCV000397115
43.
GRCh37:
Chr6:8269414-17402660
See casesLikely pathogenicno assertion criteria providedVCV000396968
44.
GRCh37:
Chr6:302272-18375047
See casesPathogenicno assertion criteria providedVCV000396621
45.
GRCh37:
Chr6:16568082-17047673
ATXN1See casesUncertain significanceno assertion criteria providedVCV000395736
46.
GRCh37:
Chr6:168775-24023234
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253526