ClinVar Miner

Variants from Biochemistry Laboratory of CDMU,Chengde Medical University

Location: China — Primary collection method: case-control
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
22 19 3 0 0 44

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DHCR7 2 0 0 2
IGHMBP2 1 1 0 2
MECP2 1 1 0 2
MLC1 1 1 0 2
NDUFS1 1 1 0 2
PAH 2 0 0 2
PCDH15 0 2 0 2
TRIOBP 0 0 2 2
ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARX, ASB11, ASB12, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP2, ATP7A, ATRX, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BHLHB9, BMP15, BMX, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, CLTRN, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTPS2, CUL4B, CXCR3, CXorf21, CXorf22, CXorf30, CXorf38, CXorf40A, CXorf40B, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf56, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, ENOX2, ERAS, ERCC6L, ESX1, F9, FAAH2, FAM104B, FAM120C, FAM122B, FAM122C, FAM133A, FAM155B, FAM156A, FAM156B, FAM199X, FAM47A, FAM47B, FAM47C, FATE1, FGD1, FGF13, FGF16, FHL1, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTHL17, FTHL18, FTSJ1, FTX, FUNDC1, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GK, GLA, GLOD5, GLRA4, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, H2BFM, H2BFWT, HAUS7, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, HYPM, IDH3G, IDS, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTM1, MTMR1, MTMR8, MTRNR2L10, NAA10, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIH1D3, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRPS1, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STK26, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMSB15A, TMSB15B, TNMD, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB 1 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DIP2A, DNMT3L, FAM207A, FTCD, GATD3A, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PRMT2, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, S100B, SIK1, SLC19A1, SLC37A1, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 1 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 0 1 0 1
ADAM28, ADAM7, ADAMDEC1, ADRA1A, ASAH1, ATP6V1B2, BIN3, BMP1, BNIP3L, C8orf48, C8orf58, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CLU, CNOT7, CSGALNACT1, DCTN6, DLC1, DMTN, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EBF2, EGR3, ELP3, ENTPD4, EPHX2, ESCO2, EXTL3, FAM160B2, FBXO16, FGF17, FGF20, FGL1, FUT10, FZD3, GFRA2, GNRH1, GSR, GTF2E2, HMBOX1, HR, INTS10, INTS9, KCTD9, KIF13B, LEPROTL1, LGI3, LOC101929066, LONRF1, LOXL2, LPL, LZTS1, MAK16, MBOAT4, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NRG1, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, PNMA2, PNOC, POLR3D, PPP2CB, PPP2R2A, PPP3CC, PSD3, PTK2B, PURG, R3HCC1, RBPMS, REEP4, RHOBTB2, RNF122, SARAF, SCARA3, SCARA5, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SMIM18, SORBS3, STC1, STMN4, TEX15, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRIM35, TRMT9B, TTI2, TUSC3, UBXN8, UNC5D, VPS37A, WRN, XPO7, ZDHHC2, ZNF395 0 1 0 1
ADAMTS2, B4GALT7, BTNL3, BTNL8, BTNL9, C5orf60, CANX, CBY3, CDHR2, CLK4, CNOT6, COL23A1, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM193B, FGFR4, FLT4, GFPT2, GPRIN1, GRK6, GRM6, HK3, HNRNPAB, HNRNPH1, LMAN2, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MRNIP, MXD3, N4BP3, NHP2, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RUFY1, SCGB3A1, SLC34A1, SNCB, SQSTM1, TBC1D9B, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 0 1 0 1
ADM2, ALG12, ARSA, BRD1, CELSR1, CERK, CHKB, CPT1B, CRELD2, DENND6B, GRAMD4, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TAFA5, TBC1D22A, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 0 1 0 1
ADNP2, ATP9B, BCL2, C18orf63, CBLN2, CCDC102B, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, FBXO15, GALR1, HMSD, HSBP1L1, KCNG2, KDSR, LINC00683, LINC01879, MBP, MC4R, NETO1, NFATC1, PARD6G, PHLPP1, PIGN, RBFA, RELCH, RNF152, RTTN, SALL3, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL4A, VPS4B, ZADH2, ZCCHC2, ZNF236, ZNF407, ZNF516 1 0 0 1
AFDN, C6orf118, C6orf120, CCR6, DACT2, DLL1, ERMARD, FAM120B, FGFR1OP, FRMD1, GPR31, KIF25, LINC02487, LOC729681, MPC1, PACRG, PDCD2, PDE10A, PHF10, PRKN, PRR18, PSMB1, QKI, RNASET2, RPS6KA2, SDIM1, SFT2D1, SMOC2, TBP, TBXT, TCP10L2, TCTE3, THBS2, TTLL2, UNC93A, WDR27 0 1 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, XKR5, ZNF596 0 1 0 1
AIFM1, RAB33A 0 1 0 1
BRWD3 0 1 0 1
COBLL1, CSRNP3, DPP4, FAP, FIGN, GALNT3, GCA, GCG, GRB14, IFIH1, KCNH7, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, TTC21B, XIRP2 1 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 1 0 1
DEPDC5 1 0 0 1
FOXP1 1 0 0 1
GPT2 0 0 1 1
IFIH1 0 1 0 1
MED13L 1 0 0 1
MMACHC 1 0 0 1
NEB 0 1 0 1
NEB, RIF1 1 0 0 1
OCRL 1 0 0 1
PLP1, RAB9B 0 1 0 1
POLR1A 1 0 0 1
SMC3 1 0 0 1
SMN1 1 0 0 1
TCF4 1 0 0 1
ZEB2 1 0 0 1

Condition and significance breakdown #

Total conditions: 27
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
not provided 1 8 0 9
Charcot-Marie-Tooth disease, axonal, type 2S 1 1 0 2
Deafness, autosomal recessive 28 0 0 2 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 1 0 2
Mitochondrial complex I deficiency, nuclear type 1 1 1 0 2
Nemaline myopathy 2 1 1 0 2
Phenylketonuria 2 0 0 2
Rett syndrome 1 1 0 2
Smith-Lemli-Opitz syndrome 2 0 0 2
Usher syndrome, type 1F 0 2 0 2
Acrofacial dysostosis, Cincinnati type 1 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 1
Combined oxidative phosphorylation deficiency 6 0 1 0 1
Cornelia de Lange syndrome 3 1 0 0 1
Deletion of long arm of chromosome 18 1 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 1
Lowe syndrome 1 0 0 1
MECP2 duplication syndrome 1 0 0 1
Mental retardation and distinctive facial features with or without cardiac defects 1 0 0 1
Mental retardation with language impairment and with or without autistic features 1 0 0 1
Mental retardation, X-linked 93 0 1 0 1
Mental retardation, autosomal recessive 49 0 0 1 1
Methylmalonic acidemia with homocystinuria 1 0 0 1
Mowat-Wilson syndrome 1 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 1
Pitt-Hopkins syndrome 1 0 0 1
Werdnig-Hoffmann disease 1 0 0 1

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