ClinVar Miner

Variants from Medical Genetics Laboratory, CHRU Nancy

Location: France  Primary collection method: clinical testing
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Gene type:
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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
76 13 0 0 0 89

Gene and significance breakdown #

Total genes and gene combinations: 83
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Gene or gene combination pathogenic likely pathogenic total
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 3 0 3
NRXN1 3 0 3
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 2 0 2
CYFIP1, NIPA1, NIPA2, TUBGCP5 2 0 2
​intergenic 1 0 1
AACS, ATP6V0A2, BRI3BP, CCDC92, DDX55, DHX37, DNAH10, EIF2B1, GTF2H3, KMT5A, NCOR2, RFLNA, RILPL1, RILPL2, SCARB1, SNRNP35, TCTN2, TMED2, TMEM132B, UBC, ZNF664 1 0 1
AADAC, AADACL2, AGTR1, ANKUB1, ARHGEF26, ARL14, ATP1B3, ATR, B3GALNT1, C3orf33, C3orf80, CCNL1, CEP70, CHST2, CLRN1, CLSTN2, COMMD2, COPB2, CP, CPA3, CPB1, DHX36, DIPK2A, EIF2A, ERICH6, ESYT3, FAIM, FOXL2, FOXL2NB, GFM1, GK5, GMPS, GPR149, GPR171, GPR87, GRK7, GYG1, HLTF, HPS3, IFT80, IGSF10, IL12A, IQCJ, IQCJ-SCHIP1, KCNAB1, KPNA4, LEKR1, LINC02877, LXN, MBNL1, MED12L, MFSD1, MINDY4B, MLF1, MME, MRPS22, NMD3, NMNAT3, OTOL1, P2RY1, P2RY12, P2RY13, P2RY14, PAQR9, PCOLCE2, PFN2, PIK3CB, PLCH1, PLOD2, PLS1, PLSCR1, PLSCR2, PLSCR4, PLSCR5, PPM1L, PRR23A, PRR23B, PRR23C, PTX3, PXYLP1, RAP2B, RARRES1, RASA2, RBP1, RBP2, RNF13, RNF7, RSRC1, SCHIP1, SELENOT, SERP1, SHOX2, SIAH2, SLC25A36, SLC33A1, SLC9A9, SMC4, SPSB4, SPTSSB, SSR3, SUCNR1, TFDP2, TIPARP, TM4SF1, TM4SF18, TM4SF4, TRIM42, TRIM59, TRPC1, TSC22D2, U2SURP, VEPH1, WWTR1, XRN1, ZBTB38, ZIC1, ZIC4 1 0 1
AADAT, ANP32C, ANXA10, C4orf45, C4orf46, CBR4, CLCN3, CPE, DDX60, DDX60L, ETFDH, FAM218A, FNIP2, FSTL5, GASK1B, GLRB, GRIA2, HPF1, KLHL2, LOC101928198, MARCHF1, MFAP3L, MSMO1, NAF1, NEK1, NPY1R, NPY5R, PALLD, PDGFC, PPID, RAPGEF2, RXFP1, SH3RF1, SPOCK3, TKTL2, TLL1, TMA16, TMEM144, TMEM192, TRIM60, TRIM61 1 0 1
AASS, ANKRD7, ASB15, ASZ1, CADPS2, CAPZA2, CFTR, CPED1, CTTNBP2, FAM3C, FEZF1, GPR37, GRM8, HYAL4, ING3, IQUB, KCND2, LMOD2, LSM8, MET, NDUFA5, POT1, PTPRZ1, RNF133, RNF148, RNU2-1, SLC13A1, SPAM1, ST7, ST7-OT3, ST7-OT4, TAS2R16, TMEM229A, TSPAN12, WASL, WNT16, WNT2 1 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3B, TBC1D3C, TBC1D3H, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 1
AATF, ACACA, C17orf78, DHRS11, GGNBP2, LHX1, MRM1, MYO19, PIGW, ZNHIT3 0 1 1
ABCA13, ADCY1, AEBP1, BLVRA, C7orf57, CAMK2B, CCM2, COA1, DBNL, DDX56, GCK, H2AZ2, HECW1, HUS1, IGFBP1, IGFBP3, LINC02902, MRPS24, MYL7, MYO1G, NACAD, NPC1L1, NUDCD3, OGDH, PGAM2, PKD1L1, POLD2, POLM, PPIA, PURB, RAMP3, SNHG15, SNORA5C, SPATA48, SPDYE1, STK17A, SUN3, TBRG4, TMED4, TNS3, UBE2D4, UPP1, URGCP, VWC2, YKT6, ZMIZ2, ZPBP 1 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 1 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1 1 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CALN1, CLDN3, CLDN4, DNAJC30, FKBP6, FZD9, METTL27, MLXIPL, NSUN5, POM121, STX1A, TBL2, TMEM270, TRIM50, TRIM74, TYW1B, VPS37D 0 1 1
ABHD18, ADAD1, AFG2A, ANKRD50, ANXA5, BBS12, BBS7, BLTP1, C4orf3, C4orf33, CCNA2, EXOSC9, FABP2, FAT4, FGF2, HSPA4L, IL2, IL21, INTU, JADE1, LARP1B, MAD2L1, METTL14, MFSD8, MYOZ2, NDNF, NDST3, NUDT6, PDE5A, PGRMC2, PLK4, PRDM5, PRSS12, QRFPR, SCLT1, SEC24D, SLC25A31, SMIM43, SNHG8, SPRY1, SYNPO2, TNIP3, TRAM1L1, TRPC3, USP53 1 0 1
ACBD7, BEND7, C1QL3, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FRMD4A, HSPA14, ITGA8, MCM10, MEIG1, MINDY3, NMT2, NUDT5, OLAH, OPTN, PHYH, PROSER2, PRPF18, PTER, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SUV39H2, TRDMT1, UCMA, UPF2, USP6NL 1 0 1
ACOT11, BSND, BTF3L4, CC2D1B, CDCP2, CIMAP2, COA7, CPT2, CYB5RL, CZIB, DHCR24, DIO1, DMRTB1, ECHDC2, EPS15, FAM151A, GLIS1, GPX7, IFT25, KTI12, LDLRAD1, LRP8, LRRC42, MAGOH, MROH7, MRPL37, NDC1, NRDC, ORC1, OSBPL9, PARS2, PCSK9, PODN, PRPF38A, RAB3B, SCP2, SHISAL2A, SLC1A7, SSBP3, TCEANC2, TMEM59, TMEM61, TTC22, TTC4, TUT4, TXNDC12, USP24, YIPF1, ZFYVE9, ZYG11A, ZYG11B 1 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, NBPF15, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, TRH-GTG2-1, TRN-GTT2-7 1 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 1
ACR, RABL2B, SHANK3 1 0 1
ACSL1, ANKRD37, CASP3, CCDC110, CDKN2AIP, CENPU, CFAP96, CFAP97, CLDN22, CLDN24, CYP4V2, DCTD, ENPP6, F11, FAM149A, FAT1, FRG1, HELT, ING2, IRF2, KLKB1, LRP2BP, MTNR1A, PDLIM3, PRIMPOL, RWDD4, SLC25A4, SNX25, SORBS2, STOX2, TENM3, TLR3, TRAPPC11, TRIML1, TRIML2, UFSP2, WWC2, ZFP42 0 1 1
ACTL6B, ADAM22, AGFG2, AKAP9, ANKIB1, AP4M1, ARPC1A, ARPC1B, ASB4, ASNS, ATP5MF, ATP5MF-PTCD1, AZGP1, BAIAP2L1, BET1, BHLHA15, BRI3, BUD31, C7orf76, CALCR, CASD1, CDK14, CDK6, CFAP69, CLDN12, CNPY4, COL1A2, COPS6, CPSF4, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP51A1, DBF4, DLX5, DLX6, DYNC1I1, EPO, ERVW-1, FAM133B, FAM200A, FBXO24, FZD1, GAL3ST4, GATAD1, GIGYF1, GJC3, GNB2, GNG11, GNGT1, GPC2, GTPBP10, HEPACAM2, KPNA7, KRIT1, LAMTOR4, LMTK2, LRCH4, LRRD1, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR489, MIR93, MOSPD3, MTERF1, NPTX2, NYAP1, OCM2, OR2AE1, PCOLCE, PDAP1, PDK4, PEG10, PEX1, PILRA, PON1, PON2, PON3, POP7, PPP1R35, PPP1R9A, PTCD1, PVRIG, RBM48, SAMD9, SAMD9L, SAP25, SDHAF3, SEM1, SGCE, SLC25A13, SLC25A40, SMURF1, SPACDR, SPDYE3, SRI, STAG3, STEAP1, STEAP2, STEAP4, TAC1, TAF6, TECPR1, TEX47, TFPI2, TFR2, TMEM130, TRAPPC14, TRIM4, TRRAP, TSC22D4, VPS50, ZAN, ZASP, ZCWPW1, ZKSCAN1, ZKSCAN5, ZNF3, ZNF394, ZNF655, ZNF789, ZNF804B, ZSCAN21, ZSCAN25 1 0 1
ACVR2A, ARHGAP15, ARL5A, CACNB4, CXCR4, DARS1, EPC2, GTDC1, HNMT, KYNU, LCT, LRP1B, LYPD6, LYPD6B, MBD5, MCM6, MMADHC, NEB, NMI, NXPH2, ORC4, R3HDM1, RBM43, RIF1, RND3, SPOPL, THSD7B, TNFAIP6, UBXN4, ZEB2 1 0 1
ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADGRA2, ADRA1A, ADRB3, AGPAT5, ANGPT2, ANK1, AP3M2, ARHGEF10, ASAH1, ASH2L, ATP6V1B2, BAG4, BIN3, BLK, BMP1, BNIP3L, BRF2, C8orf48, C8orf58, C8orf74, CCAR2, CCDC25, CDCA2, CHMP7, CHRNA2, CHRNA6, CHRNB3, CLDN23, CLN8, CLU, CNOT7, CSGALNACT1, CSMD1, CTSB, DCTN6, DDHD2, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB130A, DEFB134, DEFB135, DEFB136, DEFB4A, DEFB4B, DKK4, DLC1, DLGAP2, DMTN, DOCK5, DOK2, DPYSL2, DUSP26, DUSP4, EBF2, EGR3, EIF4EBP1, ELP3, ENTPD4, EPHX2, ERI1, ERICH1, ERLIN2, ESCO2, EXTL3, FAM167A, FAM86B1, FAM86B2, FBXO16, FBXO25, FDFT1, FGF17, FGF20, FGFR1, FGL1, FHIP2B, FNTA, FUT10, FZD3, GATA4, GFRA2, GINS4, GNRH1, GOLGA7, GOT1L1, GPAT4, GSR, GTF2E2, HGSNAT, HMBOX1, HOOK3, HR, HTRA4, IDO1, IDO2, IKBKB, INTS10, INTS9, KAT6A, KBTBD11, KCNU1, KCTD9, KIF13B, LEPROTL1, LETM2, LGI3, LINC03042, LONRF1, LOXL2, LPL, LSM1, LZTS1, MAK16, MBOAT4, MCPH1, MFHAS1, MICU3, MIR124-1, MIR320A, MSR1, MSRA, MTMR7, MTMR9, MTUS1, MYOM2, NAT1, NAT2, NEFL, NEFM, NEIL2, NKX2-6, NKX3-1, NKX6-3, NPM2, NRG1, NSD3, NUDT18, NUGGC, PBK, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PINX1, PIWIL2, PLAT, PLEKHA2, PLPBP, PLPP5, PNMA2, PNOC, POLB, POLR3D, POMK, POTEA, PPP1R3B, PPP2CB, PPP2R2A, PPP3CC, PRSS51, PRSS55, PSD3, PTK2B, PURG, R3HCC1, RAB11FIP1, RBPMS, REEP4, RHOBTB2, RNF122, RNF170, RP1L1, SARAF, SCARA3, SCARA5, SFRP1, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC20A2, SLC25A37, SLC35G5, SLC39A14, SLC7A2, SMIM18, SMIM19, SORBS3, SOX7, SPAG11A, SPAG11B, STAR, STC1, STMN4, TACC1, TCIM, TDRP, TEX15, THAP1, TM2D2, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNKS, TRIM35, TRMT9B, TTI2, TUSC3, UBXN8, UNC5D, USP17L1, USP17L2, USP17L3, USP17L4, USP17L7, USP17L8, VDAC3, VPS37A, WRN, XKR5, XKR6, XPO7, ZDHHC2, ZMAT4, ZNF395, ZNF596, ZNF703, ZNF705B, ZNF705D, ZNF705G 1 0 1
ADAM8, ADGRA1, BNIP3, CALY, CFAP46, CLRN3, CYP2E1, DPYSL4, EBF3, ECHS1, FOXI2, FUOM, GLRX3, INPP5A, JAKMIP3, KNDC1, LINC01166, LINC02870, LRRC27, MGMT, MKI67, MTG1, NKX6-2, PAOX, PPP2R2D, PRAP1, PTPRE, PWWP2B, SPRN, STK32C, SYCE1, TCERG1L, TUBGCP2, UTF1, VENTX, ZNF511 1 0 1
ADAMTSL1, AK3, BNC2, CCDC171, CD274, CDC37L1, CER1, CNTLN, DMAC1, DMRT1, DMRT2, DMRT3, DOCK8, ERMP1, FREM1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KANK1, KCNV2, KDM4C, KIAA2026, LURAP1L, MIR101-2, MLANA, MPDZ, NFIB, PDCD1LG2, PLGRKT, PLPP6, PSIP1, PTPRD, PUM3, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SH3GL2, SLC1A1, SMARCA2, SNAPC3, SPATA6L, TPD52L3, TTC39B, TYRP1, UHRF2, VLDLR, ZDHHC21 1 0 1
ADCY1, AEBP1, BLVRA, C7orf25, CAMK2B, CCM2, COA1, DBNL, DDX56, GCK, GLI3, H2AZ2, HECW1, HECW1-IT1, IGFBP1, IGFBP3, INHBA, LINC02902, MRPL32, MRPS24, MYL7, MYO1G, NACAD, NPC1L1, NUDCD3, OGDH, PGAM2, PKD1L1, POLD2, POLM, PPIA, PSMA2, PURB, RAMP3, SNHG15, SNORA5C, SPDYE1, STK17A, TBRG4, TMED4, TNS3, UBE2D4, URGCP, YKT6, ZMIZ2 1 0 1
ADD1, ADRA2C, ATP5ME, C4orf48, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, IDUA, LETM1, LRPAP1, MAEA, MFSD10, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721 1 0 1
ADNP2, ALPK2, ATP8B1, ATP9B, BCL2, BOD1L2, C18orf63, CBLN2, CCBE1, CCDC102B, CCDC68, CD226, CDH19, CDH20, CDH7, CNDP1, CNDP2, CPLX4, CTDP1, CYB5A, DIPK1C, DOK6, DSEL, DYNAP, FBXO15, FECH, GALR1, GRP, HMSD, HSBP1L1, KCNG2, KDSR, LINC-ROR, LINC00683, LINC01415, LINC01879, LMAN1, MALT1, MBP, MC4R, MIR122, NARS1, NEDD4L, NETO1, NFATC1, ONECUT2, PARD6G, PHLPP1, PIGN, PMAIP1, PTGR3, RAB27B, RAX, RBFA, RELCH, RNF152, RTTN, SALL3, SEC11C, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SLC66A2, SMIM21, SOCS6, ST8SIA3, TCF4, TIMM21, TMX3, TNFRSF11A, TSHZ1, TXNL1, TXNL4A, VPS4B, WDR7, ZCCHC2, ZNF236, ZNF407, ZNF516, ZNF532 1 0 1
ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, AP4B1, ATP1A1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD2, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CLCC1, COL11A1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, HIPK1, IGSF3, INKA2, KCNA10, KCNA2, KCNA3, KCNC4, KCND3, LAMTOR5, LINC01649, LRIF1, LRIG2, MAB21L3, MAGI3, MAN1A2, MIR197, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NHLH2, NRAS, NTNG1, OLFM3, OLFML3, OVGP1, PHTF1, PIFO, PPM1J, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RHOC, RNPC3, RSBN1, SARS1, SIKE1, SLC16A1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SORT1, SPAG17, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VTCN1, WARS2, WDR3, WDR47, WDR77, WNT2B 1 0 1
ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, NCAPH, SEMA4C, SNRNP200, STARD7, TMEM127 1 0 1
ADSS2, AHCTF1, AKT3, CATSPERE, CEP170, CHML, CNST, COX20, DESI2, EFCAB2, EXO1, FH, FMN2, GREM2, HNRNPU, KIF26B, KMO, LINC02897, MAP1LC3C, OPN3, PLD5, RGS7, SCCPDH, SDCCAG8, SMYD3, SPMIP3, TFB2M, WDR64, ZBTB18, ZNF124, ZNF669, ZNF670, ZNF695 1 0 1
AGPS, ATF2, ATP5MC3, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CIR1, CWC22, CYBRD1, DCAF17, DLX1, DLX2, DYNC1I2, EVX2, FKBP7, GPR155, HAT1, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITPRID2, LNPK, MAP3K20, METAP1D, METTL8, MIR10B, MIR1258, MTX2, NEUROD1, NFE2L2, OLA1, OSBPL6, PDE11A, PDK1, PJVK, PLEKHA3, PRKRA, RAPGEF4, RBM45, SCRN3, SESTD1, SLC25A12, SP3, SP9, TLK1, TTN, UBE2E3, WIPF1, ZNF385B 1 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 1 1
AK3, CD274, CDC37L1, ERMP1, GLDC, GLIS3, IL33, INSL4, INSL6, JAK2, KDM4C, KIAA2026, MIR101-2, MLANA, PDCD1LG2, PLGRKT, PLPP6, RANBP6, RCL1, RFX3, RIC1, RLN1, RLN2, SLC1A1, SPATA6L, TPD52L3, UHRF2 1 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MYO15A, NT5M, PEMT, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 1
AKAP3, C12orf4, CCND2, CRACR2A, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, PARP11, PRMT8, RAD51AP1, TIGAR 1 0 1
ANGPT4, C20orf96, CSNK2A1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, FAM110A, NRSN2, RBCK1, RSPO4, SCRT2, SLC52A3, SOX12, SRXN1, TBC1D20, TCF15, TRIB3, ZCCHC3 1 0 1
ANKRD24, CREB3L3, EBI3, EEF2, FSD1, MAP2K2, MPND, PIAS4, SHD, SIRT6, STAP2, TMIGD2, YJU2, ZBTB7A 1 0 1
ANKS1A, ARMC12, BNIP5, BRPF3, BTBD9, C6orf89, CCDC167, CDKN1A, CLPS, CLPSL1, CLPSL2, CMTR1, CPNE5, DEF6, ETV7, FANCE, FGD2, FKBP5, ILRUN, KCTD20, LHFPL5, MAPK13, MAPK14, MDGA1, MTCH1, PACSIN1, PI16, PIM1, PNPLA1, PPARD, PPIL1, PXT1, RAB44, RNF8, RPL10A, SCUBE3, SLC26A8, SNRPC, SPDEF, SRPK1, SRSF3, STK38, TAF11, TBC1D22B, TCP11, TEAD3, TMEM217, TULP1, UHRF1BP1, ZFAND3, ZNF76 1 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, DIDO1, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SLC17A9, SRMS, STMN3, YTHDF1 1 0 1
ARHGAP10, NR3C2 0 1 1
ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 1
ARID1B, CLDN20, NOX3, SNX9, TFB1M, TIAM2, TMEM242, ZDHHC14 1 0 1
ARL8B, BHLHE40, CHL1, CNTN4, CNTN6, CRBN, EDEM1, EGOT, IL5RA, ITPR1, LRRN1, SETMAR, SUMF1, TRNT1 1 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, ZDHHC8 1 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 1
ATP2B3, BCAP31, BGN, CCNQ, DUSP9, HAUS7, LOC100509091, PNCK, PNMA6E, SLC6A8, TREX2, ZFP92 1 0 1
ATP5ME, MYL5, PCGF3, PDE6B, PIGG, SLC49A3, ZNF721 1 0 1
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, EFHC2, GPR34, GPR82, MAOA, MAOB, MED14, MPC1L, NDP, NYX, USP9X 1 0 1
BAZ1A, BRMS1L, CFL2, CLEC14A, EAPP, EGLN3, FAM177A1, FBXO33, FOXA1, GEMIN2, INSM2, LRFN5, MBIP, MIA2, MIPOL1, NFKBIA, NKX2-1, NKX2-8, NPAS3, PAX9, PNN, PPP2R3C, PRORP, PSMA6, PTCSC3, RALGAPA1, SEC23A, SFTA3, SLC25A21, SNX6, SPTSSA, SRP54, SSTR1, TRAPPC6B, TTC6 1 0 1
BCLAF3, EIF1AX, MAP3K15, MAP7D2, PDHA1, RPS6KA3, SH3KBP1 1 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, MELTF, MIR570, MUC20, MUC4, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TNK2, UBXN7, WDR53, ZDHHC19 1 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, MELTF, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, UBXN7, WDR53, ZDHHC19 1 0 1
BEND3, MTRES1, PDSS2, SCML4, SOBP 1 0 1
BRD8, CDC23, CDC25C, FAM13B, FAM53C, GFRA3, HNRNPA0, KDM3B, KIF20A, KLHL3, MYOT, NME5, PKD2L2, SPOCK1, WNT8A 1 0 1
CAPN2, CAPN8, CCDC185, CNIH4, DEGS1, FBXO28, NVL, TP53BP2, WDR26 1 0 1
CASK, GPR34, GPR82 1 0 1
CASK, GPR34, GPR82, MAOA, MAOB, NDP 1 0 1
CDR2, EEF2K, MOSMO, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 1
CHL1, CNTN4, CNTN6, CRBN, IL5RA, LRRN1, SETMAR, TRNT1 0 1 1
CHL1, CNTN4, CNTN6, CRBN, IL5RA, LRRN1, TRNT1 0 1 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 1
COPS9, GPC1, HDAC4, LOC100128563, NDUFA10, OR6B2, OR6B3, OTOS, PRR21 1 0 1
CREBBP 1 0 1
CSRNP3, GALNT3, SCN2A, SCN3A 1 0 1
DLGAP1 0 1 1
DNM3, DNM3OS, MIR199A2, MIR214, MIR3120 0 1 1
DOCK8 1 0 1
GPC3 1 0 1
LTBP4 0 1 1
MBD5 0 1 1
MED13L 1 0 1
RBFOX1 0 1 1
TOP3B 0 1 1

Condition and significance breakdown #

Total conditions: 67
Download table as spreadsheet
Condition pathogenic likely pathogenic total
Global developmental delay 8 0 8
Autism 4 0 4
Delayed speech and language development 3 1 4
Autism with high cognitive abilities 2 1 3
Abnormal fetal cardiovascular morphology 2 0 2
Atypical behavior; Delayed speech and language development 2 0 2
Autism; Delayed speech and language development 1 1 2
Epileptic encephalopathy 2 0 2
Fetal growth restriction 0 2 2
Global developmental delay; Atypical behavior 1 1 2
Global developmental delay; Microcephaly 2 0 2
Microcephaly; Neurodevelopmental delay 2 0 2
Motor delay; Delayed speech and language development 2 0 2
3-4 finger syndactyly; Abnormal facial shape 1 0 1
Abnormal brain morphology 1 0 1
Abnormality of the head 1 0 1
Abnormality of the kidney; Transverse facial cleft 1 0 1
Aicardi syndrome 1 0 1
Atypical behavior; Overgrowth 0 1 1
Autism; Corpus callosum, agenesis of; Hypertrichosis; Broad thumb; Delayed speech and language development 1 0 1
Autism; Global developmental delay 1 0 1
Cardiomyopathy; Motor delay; Delayed speech and language development 1 0 1
Corpus callosum, agenesis of; Abnormality of the head; Transverse facial cleft; Abnormal optic chiasm morphology 1 0 1
Corpus callosum, agenesis of; Global developmental delay; Seizure; Microcephaly; Cerebellar vermis hypoplasia; Developmental regression 1 0 1
Corpus callosum, agenesis of; Lissencephaly; Microcephaly; Generalized hypotonia 1 0 1
Corpus callosum, agenesis of; Neurodevelopmental delay; Ectopic scrotum; Cleft lip 1 0 1
Cryptorchidism; Coarctation of aorta 1 0 1
Cryptorchidism; Neurodevelopmental delay 1 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 1 1
Epileptic spasm 1 0 1
Facial asymmetry 1 0 1
Familial atrioventricular septal defect; Penile hypospadias; Abnormality of the anus 1 0 1
Fetal growth restriction; Cleft lip 1 0 1
Fetal growth restriction; Renal hypoplasia; Generalized hypotonia 1 0 1
Global developmental delay; Atypical behavior; Delayed speech and language development 1 0 1
Global developmental delay; Delayed speech and language development 0 1 1
Global developmental delay; Generalized hypotonia 1 0 1
Global developmental delay; Hearing impairment 0 1 1
Global developmental delay; Overweight 1 0 1
Global developmental delay; Short stature 1 0 1
Global developmental delay; Short stature; Microcephaly 1 0 1
Global developmental delay; Short stature; Strabismus 1 0 1
Hydronephrosis; Short nose 0 1 1
Intellectual disability 1 0 1
Intellectual disability; Pseudohypoaldosteronism 0 1 1
Intracranial hemorrhage 1 0 1
Isolated Pierre-Robin syndrome; Transverse facial cleft 1 0 1
Mayer-Rokitansky-Kuster-Hauser syndrome 1 0 1
Motor delay; Functional abnormality of the bladder 1 0 1
Neurodevelopmental delay 1 0 1
Obesity; Global developmental delay 1 0 1
Poland anomaly 1 0 1
Polyhydramnios; Abnormal duodenum morphology 1 0 1
Poor motor coordination 1 0 1
Positional foot deformity 1 0 1
Potocki-Lupski syndrome 1 0 1
Rett syndrome 1 0 1
Scoliosis; Positional foot deformity 1 0 1
Seizure; Neurodevelopmental delay 1 0 1
Severe intrauterine growth retardation 1 0 1
Severe sensorineural hearing impairment; Lower limb asymmetry; Upper limb asymmetry 1 0 1
Severe short stature; Abnormal facial shape; Neurodevelopmental delay 1 0 1
Smith-Magenis syndrome 1 0 1
Syndactyly; Hand polydactyly; Neurodevelopmental delay 1 0 1
Trigonocephaly 1 0 1
Unilateral renal agenesis; Aplasia of the vagina 1 0 1
Williams syndrome 0 1 1

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