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Items: 40

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:129376729-131016993
Early infantile epileptic encephalopathy with suppression bursts, Epileptic encephalopathy, early infantile, 31Conflicting interpretations of pathogenicity
(May 20, 2020)
criteria provided, conflicting interpretationsVCV001056169
2.
GRCh37:
Chr9:130412438-131423964
Infantile epilepsy syndromePathogenic
(Apr 20, 2018)
no assertion criteria providedVCV000984763
3.
GRCh37:
Chr9:130577951-131303459
not providedPathogenic
(Apr 29, 2019)
criteria provided, single submitterVCV000831938
4.
GRCh37:
Chr9:71416475-141020389
DENND1A, GPR107, SLC46A2, INIP, ZNF462, PRDM12, NAA35, SLC28A3, CARD9, SUSD1, IPPK, DDX31, NIBAN2, MRPL41, WNK2, SECISBP2, BBLN, MAPKAP1, TUT7, GALNT12, EHMT1, SVEP1, RMI1, TRPM3, PTGES2, GKAP1, AKNA, URM1, ISCA1, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, PRRC2B, PLPP7, ZDHHC12, MIGA2, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, DYNC2I2, SAPCD2, TMEM250, LRSAM1, MSANTD3, UAP1L1, MRRF, RBM18, ARRDC1, DPH7, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, PTPDC1, PRSS47, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, DAB2IP, CAMSAP1, LINC02907, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC16, FAM120AOS, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, OLFML2A, QSOX2, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, NAIF1, ANKS6, SUSD3, CDC26, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, FAM78A, OR13C9, OR13D1, ADGRD2, QRFP, OR1J1, OR1B1, CAVIN4, GLT6D1, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, STPG3, NRARP, FOXB2, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, SPATA31C2, LOC651337, RNF208, DNLZ, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1, ABCA1, ABCA2, ABL1, ABO, AK1, ALAD, ALDH1A1, ALDOB, AMBP, ANXA1, APBA1, ASS1, AUH, BAAT, KLF9, C5, C8G, CACNA1B, KYAT1, TNFSF8, ENTPD2, CDK9, CEL, CKS2, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ENDOG, ENG, STOM, FANCC, FBP1, FKTN, FCN1, FCN2, FOXE1, FPGS, FXN, NR5A1, FUT7, GAS1, NR6A1, GCNT1, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, HSPA5, TNC, IARS1, LCN1, LCN2, LMX1B, MUSK, NCBP1, NDUFA8, NFIL3, NINJ1, NOTCH1, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PDCL, PBX3, PCSK5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, RAD23B, RALGDS, RGS3, RORB, RPL7A, RPL12, RXRA, SET, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TGFBR1, TLE1, TLE4, TLR4, TMOD1, TRAF1, TRAF2, TSC1, TTF1, TXN, UGCG, VAV2, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, LHX2, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, TRIM14, PPP1R26, SEC16A, TNFSF15, PTBP3, SH2D3C, RABEPK, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, ZBTB6, NEK6, ENTR1, NOXA1, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, SLC2A6, RPL35, MAN1B1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, ZBTB43, SMC5, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, RABGAP1, CEMIP2, TMEM245, FRRS1L, CIZ1, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, FBXW2, OR1J4, OR2K2, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, TRUB2, ST6GALNAC4, INVS, NDOR1, TOR1B, TOR2A, NTMT1, PHPT1, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, DELEC1, PCA3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, GOLM1, PRRX2, SPOUT1, TRMO, RAB14, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, TBC1D13, NUTM2F, DIRAS2, ASPN, BSPRY, TOR4A, TEX10, EXD3, ABITRAM, NMRK1, STX17, NOL8, C9orf40, TMEM38B, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, RABL6, CDK5RAP2, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, BARHL1, SH3GLB2, REXO4, DOLPP1, KCNT1, ZBTB26
not providedPathogenic
(May 25, 2018)
no assertion criteria providedVCV000687100
5.
GRCh37:
Chr9:203861-141020388
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, ENTR1, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, CEMIP2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DELEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, ABITRAM, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, NIBAN2, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, BBLN, MAPKAP1, DCAF10, TUT7, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, DYNC2I2, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, PABIR1, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, LINC02907, DOCK8-AS1, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1
not providedPathogenic
(Sep 28, 2018)
no assertion criteria providedVCV000685192
6.
GRCh37:
Chr9:130216797-130953151
GRCh38:
Chr9:127454518-128190872
Congenital disorder of glycosylation type 1uUncertain significance
(Oct 13, 2018)
criteria provided, single submitterVCV000663424
7.
GRCh37:
Chr9:130374663-131329276
GRCh38:
Chr9:127612384-128566997
Coenzyme Q10 deficiency, primary, 7, Early infantile epileptic encephalopathy with suppression burstsConflicting interpretations of pathogenicity
(Jul 27, 2018)
criteria provided, conflicting interpretationsVCV000662282
8.
GRCh37:
Chr9:129522693-131410039
not providedBenign
(Jun 27, 2011)
no assertion criteria providedVCV000612041
9.
GRCh37:
Chr9:129370440-133866894
not providedPathogenic
(Jun 27, 2011)
no assertion criteria providedVCV000612035
10.
GRCh37:
Chr9:46587-141066491
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXD4, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, ENTR1, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, CEMIP2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DELEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, ABITRAM, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, NIBAN2, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, BBLN, MAPKAP1, DCAF10, TUT7, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, DYNC2I2, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, PABIR1, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, LINC02907, DOCK8-AS1, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000611427
11.
GRCh37:
Chr9:10590-141122247
GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, ENTR1, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, CEMIP2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DELEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, ABITRAM, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, NIBAN2, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, BBLN, MAPKAP1, DCAF10, TUT7, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, DYNC2I2, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, PABIR1, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, LINC02907, DOCK8-AS1, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, WASHC1, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1, ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXD4, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, B4GALT1, GLDC
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000611419
12.
GRCh37:
Chr9:10590-141114095
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXD4, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, ENTR1, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, CEMIP2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DELEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, ABITRAM, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, NIBAN2, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, BBLN, MAPKAP1, DCAF10, TUT7, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, DYNC2I2, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, PABIR1, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, LINC02907, DOCK8-AS1, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, WASHC1, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1
not providedPathogenic
(Nov 23, 2011)
no assertion criteria providedVCV000611418
13.
GRCh37:
Chr9:10590-141107672
IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, ELP1, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, ENTR1, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, ECPAS, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, CEMIP2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DELEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, ABITRAM, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, MYORG, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, NIBAN2, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, BBLN, MAPKAP1, DCAF10, TUT7, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, PGAP4, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, AOPEP, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, DYNC2I2, SAPCD2, TMEM250, LRSAM1, IL33, DMAC1, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, PABIR1, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, DIPK1B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, LINC02907, DOCK8-AS1, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, SHOC1, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, PRXL2C, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, PAXX, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, CAVIN4, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, AJM1, LRRC26, MYMK, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, LINC02872, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, LINC02908, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, LINC02913, IDNK, LCN10, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, PALM2AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, LOC651337, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, WASHC1, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, CARNMT1-AS1, ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXD4, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS1, IFNA1
not providedPathogenic
(Nov 1, 2010)
no assertion criteria providedVCV000611417
14.
GRCh37:
Chr9:130911805-131302617
GRCh38:
Chr9:128149526-128540338
Coenzyme Q10 deficiency, primary, 7Uncertain significance
(May 9, 2018)
criteria provided, single submitterVCV000584093
15.
GRCh37:
Chr9:71069743-140999928
TMEM245, TMEM250, TMEM252, TMEM268, ZNF169, ZNF189, ZNF367, ZNF462, TMEM38B, TMOD1, ZNF483, ZNF484, AK1, AK8, CARNMT1-AS1, CAVIN4, ELP1, ENDOG, GPSM1, GRIN1, MIGA2, NSMF, PCSK5, RNF20, RNF208, RNF224, SARDH, RXRA, RNU6ATAC, ROR2, RORB, RPL12, RPL35, PPP6C, PRDM12, RPL7A, S1PR3, SAPCD2, OBP2A, OBP2B, ODF2, OGN, NTRK2, NUP188, OLFM1, OLFML2A, NUP214, NUTM2F, NUTM2G, NXNL2, PDCL, PGAP4, PRKACG, PRPF4, PRRC2B, PRRX2, PGM5, PHF19, PLPP7, PMPCA, PNPLA7, POLE3, MIR126, MIR181A2, MIR199B, MIR24-1, IPPK, ISCA1, KCNT1, KIAA1958, MIRLET7A1, MIRLET7D, GTF3C4, GTF3C5, HABP4, HDHD3, MIR181A2HG, MIR181B2, MIR204, MIR23B, MIR27B, MIR2861, MIR32, MIR7-1, POMT1, PPP1R26, PPP3R2, ERP44, EXD3, EXOSC2, FAM189A2, FAM78A, FANCC, FBP1, FBP2, FBXW2, FBXW5, FCN1, FAM102A, FAM120A, CDK9, FAM120AOS, FAM163B, FAM166A, NTMT1, NTNG2, GRIN3A, GSN, HEMGN, HMCN2, IER5L, INIP, INPP5E, INVS, APBA1, ARPC5L, ALAD, ALDH1A1, ANGPTL2, ANKS6, ALDOB, ALG2, AMBP, ANAPC2, ANP32B, ANXA1, AOPEP, CCDC180, CCDC183, CEL, CEMIP2, CKS2, CLIC3, CNTRL, CDC14B, CDC26, CDK20, CDK5RAP2, CIZ1, AKNA, ZNF79, ZNF883, ZNF618, ZNF782, TNC, TOR1B, TOR2A, TOR4A, TPRN, TRAF1, TRAF2, TRIM14, TRIM32, TRMO, TOR1A, TNFSF15, TNFSF8, ZNF510, SPATA31D4, SPATA31E1, SPIN1, SPOUT1, SPTAN1, SPTLC1, SSNA1, ST6GALNAC4, ST6GALNAC6, STKLD1, STOM, STPG3, STRBP, STX17, STXBP1, SURF1, SURF2, SURF4, SURF6, SUSD1, SUSD3, SVEP1, SWI5, SYK, TAL2, TBC1D13, TBC1D2, TDRD7, TEX10, TGFBR1, TJP2, TLE1, TLE4, TLR4, TMC1, TMEFF1, TMEM141, TMEM203, TMEM210, TRPM3, TRPM6, TRUB2, TSC1, TSTD2, TTC16, TTF1, TTLL11, TTLL11-IT1, TUBB4B, TUT7, TXN, TXNDC8, UAP1L1, UBAC1, UBQLN1, UCK1, UGCG, URM1, USP20, VAV2, VPS13A, WDR31, WDR38, WDR5, WHRN, WNK2, XPA, ZBTB26, ZBTB34, ZBTB43, ZBTB6, ZDHHC12, ZER1, ZFAND5, ZFP37, ZMYND19, ABCA1, ABCA2, ABHD17B, ABITRAM, ABL1, ABO, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL2, ADGRD2, AGPAT2, AGTPBP1, AIF1L, AJM1, ARRDC1, ASB6, ASPN, ASS1, ASTN2, ATP6V1G1, AUH, BAAT, BANCR, BARHL1, BARX1, BBLN, BICD2, BRD3, BRINP1, BSPRY, C5, C8G, C9orf116, C9orf152, C9orf153, C9orf163, C9orf40, C9orf43, C9orf47, C9orf50, C9orf57, C9orf64, C9orf78, C9orf85, CACFD1, CACNA1B, CAMSAP1, CARD19, CARD9, CARNMT1, CENPP, CEP78, CERCAM, CFAP157, CFAP77, CFAP95, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSL, CTSV, CYLC2, CYSRT1, DAB2IP, DAPK1, DAPK1-IT1, DBH, DDX31, DELEC1, DENND1A, DIPK1B, DIRAS2, DNAJC25, DNAJC25-GNG10, DNLZ, DNM1, DOLK, DOLPP1, DPH7, DPM2, DPP7, DYNC2I2, ECM2, ECPAS, EDF1, EGFL7, EHMT1, ENG, ENTPD2, ENTPD8, ENTR1, EPB41L4B, ERCC6L2, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOXB2, FOXE1, FPGS, FRMD3, FRRS1L, FSD1L, FUBP3, FUT7, FXN, GABBR2, GADD45G, GALNT12, GAPVD1, GARNL3, GAS1, GBGT1, GCNT1, GDA, GFI1B, GKAP1, GLE1, GLT6D1, GNA14, GNAQ, GNG10, GOLGA1, GOLGA2, GOLM1, GPR107, GPR21, HNRNPK, HSD17B3, HSDL2, HSPA5, IARS1, IDNK, KIF12, KIF27, KLF4, KLF9, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN2, LCN6, LCN8, LCN9, LCNL1, LHX2, LHX3, LHX6, LINC02872, LINC02907, LINC02908, LINC02913, LMX1B, LOC651337, LPAR1, LRRC26, LRRC8A, LRSAM1, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MED22, MED27, MEGF9, MFSD14B, MIRLET7F1, MORN5, MRPL41, MRPL50, MRPS2, MRRF, MSANTD3, MSANTD3-TMEFF1, MUSK, MVB12B, MYMK, NAA35, NACC2, NAIF1, NANS, NCBP1, NCS1, NDOR1, NDUFA8, NEK6, NELFB, NFIL3, NIBAN2, NINJ1, NIPSNAP3A, NIPSNAP3B, NMRK1, NOL8, NOTCH1, NOXA1, NPDC1, NR4A3, NR5A1, NR6A1, NRARP, NRON, OMD, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR1B1, OR1J1, OR1J2, OR1J4, OR1K1, OR1L1, OR1L3, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR5C1, ORM1, ORM2, OSTF1, PABIR1, PAEP, PALM2, PALM2AKAP2, PAPPA, PAPPA-AS1, PAXX, PBX3, PCA3, PHF2, PHPT1, PHYHD1, PIP5K1B, PIP5KL1, PKN3, PRSS47, PRUNE2, PRXL2C, PSAT1, PSMB7, PSMD5, PTAR1, PTBP3, PTCH1, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPA, PTPDC1, PTPN3, PTRH1, QRFP, QSOX2, RAB14, RABEPK, RABGAP1, RABL6, RAD23B, RALGDS, RALGPS1, RAPGEF1, RASEF, RBM18, RC3H2, REXO4, RFK, RGS3, RMI1, RNF183, SCAI, SEC16A, SEC61B, SECISBP2, SEMA4D, SET, SETX, SH2D3C, SH3GLB2, SHC3, SHOC1, SLC25A25, SLC27A4, SLC28A3, SLC2A6, SLC2A8, SLC31A1, SLC31A2, SLC34A3, SLC35D2, SLC44A1, SLC46A2, SMC2, SMC5, SNAPC4, SNHG7, SNX30, SOHLH1, SPACA9, SPATA31C1, SPATA31C2, SPATA31D1, SPATA31D3
Global developmental delay, Seizures, Muscular hypotonia
Likely pathogenic
(Jan 1, 2017)
criteria provided, single submitterVCV000523294
16.
GRCh37:
Chr9:203862-141020389
MIR7-1, MIRLET7A1, MIRLET7D, MIRLET7F1, MLANA, MLLT3, MOB3B, MORN5, MPDZ, MRPL41, MRPL50, MRPS2, MRRF, MSANTD3, MSANTD3-TMEFF1, MSMP, MTAP, MUSK, MVB12B, MYMK, MYORG, NAA35, NACC2, NAIF1, NANS, NCBP1, NCS1, NDOR1, NDUFA8, NDUFB6, NEK6, NELFB, NFIB, NFIL3, NFX1, NIBAN2, NINJ1, NIPSNAP3A, NIPSNAP3B, NMRK1, NOL6, NOL8, NOTCH1, NOXA1, NPDC1, NPR2, NR4A3, NR5A1, NR6A1, NRARP, NRON, NSMF, NTMT1, NTNG2, NTRK2, NUDT2, NUP188, NUP214, NUTM2F, NUTM2G, NXNL2, OBP2A, OBP2B, ODF2, OGN, OLFM1, OLFML2A, OMD, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1J1, OR1J2, OR1J4, OR1K1, OR1L1, OR1L3, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, OR5C1, ORM1, ORM2, OSTF1, PABIR1, PAEP, PALM2, PALM2AKAP2, PAPPA, PAPPA-AS1, PAX5, PAXX, PBX3, PCA3, PCSK5, PDCD1LG2, PDCL, PGAP4, PGM5, PHF19, PHF2, PHF24, PHPT1, PHYHD1, PIGO, PIP5K1B, PIP5KL1, PKN3, PLAA, PLGRKT, PLIN2, PLPP6, PLPP7, PMPCA, PNPLA7, POLE3, POLR1E, POMT1, PPP1R26, PPP3R2, PPP6C, PRDM12, PRKACG, PRPF4, PRRC2B, PRRX2, PRSS3, PRSS47, PRUNE2, PRXL2C, PSAT1, PSIP1, PSMB7, PSMD5, PTAR1, PTBP3, PTCH1, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPA, PTPDC1, PTPN3, PTPRD, PTRH1, PUM3, QRFP, QSOX2, RAB14, RABEPK, RABGAP1, RABL6, RAD23B, RALGDS, RALGPS1, RANBP6, RAPGEF1, RASEF, RBM18, RC3H2, RCL1, RECK, REXO4, RFK, RFX3, RGP1, RGS3, RIC1, RLN1, RLN2, RMI1, RMRP, RNF183, RNF20, RNF208, RNF224, RNF38, RNU6ATAC, ROR2, RORB, RPL12, RPL35, RPL7A, RPP25L, RPS6, RRAGA, RUSC2, RXRA, S1PR3, SAPCD2, SARDH, SAXO1, SCAI, SEC16A, SEC61B, SECISBP2, SEMA4D, SET, SETX, SH2D3C, SH3GL2, SH3GLB2, SHB, SHC3, SHOC1, SIGMAR1, SIT1, SLC1A1, SLC24A2, SLC25A25, SLC25A51, SLC27A4, SLC28A3, SLC2A6, SLC2A8, SLC31A1, SLC31A2, SLC34A3, SLC35D2, SLC44A1, SLC46A2, SMARCA2, SMC2, SMC5, SMU1, SNAPC3, SNAPC4, SNHG7, SNX30, SOHLH1, SPACA9, SPAG8, SPATA31A1, SPATA31A3, SPATA31A5, SPATA31A6, SPATA31A7, SPATA31C1, SPATA31C2, SPATA31D1, SPATA31D3, SPATA31D4, SPATA31E1, SPATA6L, SPIN1, SPINK4, SPOUT1, SPTAN1, SPTLC1, SSNA1, ST6GALNAC4, ST6GALNAC6, STKLD1, STOM, STOML2, STPG3, STRBP, STX17, STXBP1, SURF1, SURF2, SURF4, SURF6, SUSD1, SUSD3, SVEP1, SWI5, SYK, TAF1L, TAL2, TBC1D13, TBC1D2, TDRD7, TEK, TESK1, TEX10, TGFBR1, TJP2, TLE1, TLE4, TLN1, TLR4, TMC1, TMEFF1, TMEM141, TMEM203, TMEM210, TMEM215, TMEM245, TMEM250, TMEM252, TMEM268, TMEM38B, TMEM8B, TMOD1, TNC, TNFSF15, TNFSF8, TOMM5, TOPORS, TOR1A, TOR1B, TOR2A, TOR4A, TPD52L3, TPM2, TPRN, TRAF1, TRAF2, TRIM14, TRIM32, TRMO, TRMT10B, TRPM3, TRPM6, TRUB2, TSC1, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUBB4B, TUSC1, TUT7, TXN, TXNDC8, TYRP1, UAP1L1, UBAC1, UBAP1, UBAP2, UBE2R2, UBQLN1, UCK1, UGCG, UHRF2, UNC13B, URM1, USP20, VAV2, VCP, VLDLR, VPS13A, WDR31, WDR38, WDR5, WHRN, WNK2, XPA, ZBTB26, ZBTB34, ZBTB43, ZBTB5, ZBTB6, ZCCHC7, ZDHHC12, ZDHHC21, ZER1, ZFAND5, ZFP37, ZMYND19, ZNF169, ZNF189, ZNF367, ZNF462, ZNF483, ZNF484, ZNF510, ZNF618, ZNF658, ZNF782, ZNF79, ZNF883, ABCA1, ABCA2, ABHD17B, ABITRAM, ABL1, ABO, ACER2, ACO1, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, ADGRD2, AGPAT2, AGTPBP1, AIF1L, AJM1, AK1, AK3, AK8, AKNA, ALAD, ALDH1A1, ALDH1B1, ALDOB, ALG2, AMBP, ANAPC2, ANGPTL2, ANKRD18A, ANKRD18B, ANKRD20A1, ANKS6, ANP32B, ANXA1, AOPEP, APBA1, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ARPC5L, ARRDC1, ASB6, ASPN, ASS1, ASTN2, ATP6V1G1, AUH, B4GALT1, BAAT, BAG1, BANCR, BARHL1, BARX1, BBLN, BICD2, BNC2, BRD3, BRINP1, BSPRY, C5, C8G, C9orf116, C9orf131, C9orf152, C9orf153, C9orf163, C9orf24, C9orf40, C9orf43, C9orf47, C9orf50, C9orf57, C9orf64, C9orf72, C9orf78, C9orf85, CA9, CAAP1, CACFD1, CACNA1B, CAMSAP1, CARD19, CARD9, CARNMT1, CARNMT1-AS1, CAVIN4, CBWD3, CBWD5, CBWD6, CBWD7, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CCL19, CCL21, CCL27, CD274, CD72, CDC14B, CDC26, CDC37L1, CDK20, CDK5RAP2, CDK9, CDKN2A, CDKN2B, CDKN2B-AS1, CEL, CEMIP2, CENPP, CEP78, CER1, CERCAM, CFAP157, CFAP77, CFAP95,