ClinVar Miner

Variants studied for chromosome 2 disorder

Included ClinVar conditions (11):
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 risk factor not provided total
149 55 793 744 139 1 21 1859

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MBD5 62 14 606 468 57 0 6 1186
SATB2 62 35 116 217 62 0 10 488
LOC126806462, SATB2 4 3 34 47 19 0 3 109
NRXN1 1 0 29 6 0 1 1 37
HDAC4 1 0 6 6 1 0 1 15
​intergenic 2 0 0 0 0 0 0 2
MBD5, ORC4 2 0 0 0 0 0 0 2
AAK1, AAMP, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, ABI2, ACADL, ACKR3, ACMSD, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACTR2, ACTR3, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADAM23, ADCY3, ADD2, ADGRF3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGPS, AGXT, ALK, ALKAL2, ALLC, ALMS1, ALPG, ALPI, ALPP, ALS2, AMER3, AMMECR1L, ANAPC1, ANKAR, ANKMY1, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, ANKRD44, ANKRD53, ANKZF1, ANO7, ANTXR1, ANXA4, AOX1, AP1S3, APLF, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARID5A, ARL4C, ARL5A, ARL6IP6, ARMC9, ARPC2, ASAP2, ASB1, ASB18, ASB3, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATF2, ATG16L1, ATG4B, ATG9A, ATIC, ATL2, ATOH8, ATP5MC3, ATP6V1B1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GALT1, B3GNT2, B3GNT7, BABAM2, BARD1, BAZ2B, BBS5, BCL11A, BCL2L11, BCS1L, BCYRN1, BIN1, BIRC6, BMP10, BMPR2, BOK, BOLA3, BOLL, BUB1, BZW1, C1D, C1QL2, C2CD6, C2orf15, C2orf27A, C2orf42, C2orf48, C2orf49, C2orf50, C2orf66, C2orf68, C2orf69, C2orf72, C2orf73, C2orf74, C2orf76, C2orf78, C2orf80, C2orf81, C2orf83, C2orf88, CAB39, CACNB4, CAD, CALCRL, CALM2, CAMKMT, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CATIP, CAVIN2, CCDC115, CCDC121, CCDC138, CCDC140, CCDC141, CCDC142, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCL20, CCNT2, CCNYL1, CCT4, CCT7, CD207, CD28, CD302, CD8A, CD8B, CDC42EP3, CDCA7, CDK15, CDK5R2, CDKL4, CDRT15P3, CEBPZ, CENPA, CENPO, CEP68, CERKL, CERS6, CFAP210, CFAP36, CFAP65, CFC1, CFC1B, CFLAR, CGREF1, CHAC2, CHCHD5, CHMP3, CHN1, CHPF, CHRNA1, CHRND, CHRNG, CHST10, CIAO1, CIB4, CIMIP2C, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CLIP4, CLK1, CMKLR2, CMPK2, CNGA3, CNNM3, CNNM4, CNOT11, CNOT9, CNPPD1, CNRIP1, CNTNAP5, COA5, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COLEC11, COMMD1, COPS7B, COPS8, COPS9, COQ10B, COX5B, COX7A2L, CPO, CPS1, CPSF3, CRACDL, CREB1, CREG2, CRIM1, CRIPT, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CUL3, CWC22, CXCR1, CXCR2, CXCR4, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27A1, CYP27C1, CYRIA, CYS1, CYTIP, D2HGDH, DAPL1, DARS1, DAW1, DBI, DCAF17, DCDC2C, DCTN1, DDX1, DDX18, DES, DGKD, DGUOK, DHRS9, DHX57, DIRC1, DIRC3, DIS3L2, DLX1, DLX2, DNAAF10, DNAH6, DNAH7, DNAJB2, DNAJB3, DNAJC10, DNAJC27, DNAJC5G, DNER, DNMT3A, DNPEP, DOCK10, DOK1, DPP10, DPP4, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTYMK, DUSP11, DUSP19, DUSP2, DUSP28, DYNC1I2, DYNC2LI1, DYSF, DYTN, E2F6, ECEL1, ECRG4, EDAR, EEF1B2, EFEMP1, EFHD1, EFR3B, EGR4, EHBP1, EHD3, EIF2AK2, EIF2AK3, EIF2B4, EIF4E2, EIF5B, EIPR1, ELMOD3, EMILIN1, EML4, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, EPHA4, ERBB4, ERCC3, ERFE, ERICH2, ERLEC1, ERMN, ESPNL, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAM110C, FAM117B, FAM124B, FAM136A, FAM161A, FAM168B, FAM171B, FAM178B, FAM228A, FAM228B, FAM98A, FANCL, FAP, FARP2, FARSB, FASTKD1, FASTKD2, FBLN7, FBXO11, FBXO36, FBXO41, FBXO48, FER1L5, FEV, FEZ2, FHL2, FIGLA, FIGN, FKBP1B, FKBP7, FLACC1, FMNL2, FN1, FNDC4, FOSL2, FOXD4L1, FOXI3, FOXN2, FRZB, FSHR, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GAL3ST2, GALM, GALNT13, GALNT14, GALNT3, GALNT5, GAREM2, GBX2, GCA, GCC2, GCFC2, GCG, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GIGYF2, GKN1, GKN2, GLB1L, GLI2, GLS, GMCL1, GMPPA, GNLY, GORASP2, GPAT2, GPATCH11, GPBAR1, GPC1, GPD2, GPN1, GPR148, GPR155, GPR17, GPR35, GPR39, GPR45, GPR55, GPR75, GPR75-ASB3, GRB14, GREB1, GRHL1, GTDC1, GTF2A1L, GTF3C2, GTF3C3, GULP1, GYPC, HAAO, HADHA, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HNRNPA3, HNRNPLL, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, HSPE1, HTR2B, HTRA2, HYCC2, IAH1, ICA1L, ICOS, ID2, IDH1, IFIH1, IFT172, IFT70A, IFT70B, IGFBP2, IGFBP5, IGKC, IHH, IKZF2, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, ILKAP, IMMT, IMP4, ING5, INHA, INHBB, INO80B, INO80D, INPP1, INPP4A, INSIG2, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB1BP1, ITGB6, ITM2C, ITPRID2, ITPRIPL1, ITSN2, IWS1, KANSL1L, KANSL3, KCMF1, KCNE4, KCNF1, KCNG3, KCNH7, KCNIP3, KCNJ13, KCNJ3, KCNK12, KCNK3, KCNS3, KCTD18, KDM3A, KHK, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, KLHL41, KRCC1, KRTCAP3, KYNU, LANCL1, LAPTM4A, LBH, LBX2, LCLAT1, LCT, LDAH, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS4, LINC00570, LINC01873, LINC02898, LIPT1, LMAN2L, LNPK, LONRF2, LOXL3, LPIN1, LRATD1, LRP1B, LRP2, LRPPRC, LRRFIP1, LRRTM1, LRRTM4, LTBP1, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAB21L4, MAIP1, MAL, MALL, MAP2, MAP3K19, MAP3K2, MAP3K20, MAP4K3, MAP4K4, MAPRE3, MARCHF4, MARCHF7, MARCO, MARS2, MAT2A, MATN3, MBD5, MBOAT2, MCEE, MCFD2, MCM6, MDH1, MDH1B, MEIS1, MEMO1, MERTK, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD2B, MFSD6, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1258, MIR128-1, MIR149, MIR216A, MIR217, MIR26B, MIR375, MITD1, MLPH, MMADHC, MOB1A, MOB4, MOGAT1, MOGS, MORN2, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL33, MRPL35, MRPL44, MRPL53, MRPS5, MRPS9, MSGN1, MSH2, MSH2-OT1, MSH6, MSTN, MTA3, MTERF4, MTHFD2, MTIF2, MTX2, MXD1, MYCN, MYCNOS, MYL1, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAB1, NABP1, NAGK, NAT8, NAT8B, NBAS, NBEAL1, NCAPH, NCK2, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFAF7, NDUFB3, NDUFS1, NEB, NEMP2, NEU2, NEU4, NEUROD1, NFE2L2, NFU1, NGEF, NHEJ1, NIF3L1, NIFK, NLRC4, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NPHP1, NPPC, NR4A2, NRBP1, NRP2, NRXN1, NT5C1B, NT5C1B-RDH14, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC2, ORC4, ORMDL1, OSBPL6, OSGEPL1, OSR1, OST4, OTOF, OTOS, OTX1, OXER1, PAIP2B, PAPOLG, PARD3B, PASK, PAX3, PAX8, PCARE, PCBP1, PCGEM1, PCGF1, PCYOX1, PDCD1, PDCL3, PDE11A, PDE1A, PDE6D, PDIA6, PDK1, PECR, PELI1, PER2, PEX13, PFN4, PGAP1, PHOSPHO2, PID1, PIGF, PIKFYVE, PJVK, PKDCC, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PMS1, PNKD, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POMC, POTEE, POTEF, POTEI, POTEJ, POU3F3, PPIG, PPIL3, PPM1B, PPM1G, PPP1CB, PPP1R1C, PPP1R21, PPP1R7, PPP3R1, PPP4R3B, PRADC1, PREB, PREPL, PRKAG3, PRKCE, PRKD3, PRKRA, PRLH, PROC, PROKR1, PROM2, PRPF40A, PRR21, PRR30, PRSS56, PSD4, PSMD1, PSMD14, PSME4, PTCD3, PTH2R, PTMA, PTPN18, PTPN4, PTPRN, PTRHD1, PUM2, PUS10, PXDN, QPCT, R3HDM1, RAB10, RAB11FIP5, RAB17, RAB1A, RAB3GAP1, RAB6C, RABL2A, RAD51AP2, RALB, RAMP1, RANBP2, RAPGEF4, RAPH1, RASGRP3, RBKS, RBM43, RBM44, RBM45, RBMS1, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, RESP18, RETREG2, RETSAT, REV1, RFTN2, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD5, RGPD6, RGPD8, RHBDD1, RHOB, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RND3, RNF103, RNF103-CHMP3, RNF144A, RNF149, RNF181, RNF25, RNPEPL1, RNU4ATAC, ROCK2, RPE, RPIA, RPL31, RPL37A, RPRM, RPS27A, RPS7, RRM2, RSAD2, RTKN, RTN4, RTP5, RUFY4, SAG, SANBR, SAP130, SATB2, SCG2, SCLY, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SELENOI, SEMA4C, SEMA4F, SEPTIN10, SEPTIN2, SERPINE2, SERTAD2, SESTD1, SF3B1, SF3B6, SFT2D3, SFTPB, SFXN5, SGO2, SGPP2, SH2D6, SH3BP4, SH3YL1, SIX2, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC1A4, SLC20A1, SLC23A3, SLC25A12, SLC30A3, SLC30A6, SLC35F5, SLC35F6, SLC38A11, SLC39A10, SLC3A1, SLC40A1, SLC4A10, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC5A7, SLC66A3, SLC8A1, SLC9A2, SLC9A4, SMARCAL1, SMC6, SMPD4, SMYD1, SMYD5, SNED1, SNORC, SNORD20, SNORD82, SNRNP200, SNRNP27, SNRPG, SNTG2, SNX17, SOCS5, SOS1, SOS1-IT1, SOWAHC, SOX11, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPAST, SPATA3, SPATA31H1, SPATS2L, SPC25, SPDYA, SPEG, SPHKAP, SPMIP9, SPOPL, SPP2, SPR, SPRED2, SPTBN1, SRBD1, SRD5A2, SRSF7, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STAT1, STAT4, STEAP3, STK11IP, STK16, STK17B, STK25, STK36, STK39, STON1, STON1-GTF2A1L, STPG4, STRADB, STRN, SUCLG1, SULT1C2, SULT1C3, SULT1C4, SULT6B1, SUMO1, SUPT7L, TACR1, TAF1B, TANC1, TANK, TBC1D8, TBR1, TCF23, TCF7L1, TDRD15, TEKT4, TET3, TEX261, TEX44, TFCP2L1, TFPI, TGFA, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TIA1, TIGD1, TLK1, TLX2, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM169, TMEM17, TMEM177, TMEM178A, TMEM18, TMEM182, TMEM185B, TMEM198, TMEM214, TMEM237, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TNP1, TNS1, TOGARAM2, TP53I3, TPO, TPRKB, TRABD2A, TRAF3IP1, TRAK2, TRAPPC12, TRIB2, TRIM43, TRIM43B, TRIM54, TRIP12, TRMT61B, TRPM8, TSGA10, TSN, TSPYL6, TTC21B, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, TUBA4A, TWIST2, TXNDC9, TYW5, UBE2E3, UBE2F, UBR3, UBXN2A, UBXN4, UCN, UGGT1, UGP2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UNC50, UNC80, UPP2, USP34, USP37, USP39, USP40, UXS1, VAMP5, VAMP8, VAX2, VIL1, VIT, VPS54, VRK2, VSNL1, VWA3B, VWC2L, WBP1, WDCP, WDFY1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR54, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XDH, XIRP2, XPO1, XRCC5, YIPF4, YPEL5, YWHAQ, ZAP70, ZC3H15, ZC3H6, ZC3H8, ZDBF2, ZEB2, ZFAND2B, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF513, ZNF514, ZNF638, ZNF804A, ZNF806, ZNG1B, ZRANB3, ZSWIM2 1 0 0 0 0 0 0 1
ABCB11, AGPS, ATF2, ATP5MC3, B3GALT1, BBS5, CCDC141, CDCA7, CERS6, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CWC22, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DYNC1I2, ERICH2, EVX2, FAP, FASTKD1, FIGN, FKBP7, G6PC2, GAD1, GALNT3, GCA, GORASP2, GPR155, GRB14, HAT1, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFIH1, IFT70A, IFT70B, ITGA6, KCNH7, KLHL23, KLHL41, LNPK, LRP2, MAP3K20, METAP1D, METTL5, METTL8, MIR10B, MIR1258, MTX2, MYO3B, NFE2L2, NOSTRIN, OLA1, OSBPL6, PDE11A, PDK1, PHOSPHO2, PJVK, PLEKHA3, PPIG, PRKRA, RAPGEF4, RBM45, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SESTD1, SLC25A12, SLC38A11, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTN, UBE2E3, UBR3, WIPF1, XIRP2, ZNF385B 1 0 0 0 0 0 0 1
ABCB11, B3GALT1, BAZ2B, BBS5, CD302, CERS6, CFAP210, COBLL1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DPP4, DYNC1I2, ERICH2, FAP, FASTKD1, FIGN, G6PC2, GAD1, GALNT3, GCA, GCG, GORASP2, GRB14, HAT1, IFIH1, ITGA6, ITGB6, KCNH7, KLHL23, KLHL41, LRP2, LY75, LY75-CD302, MAP3K20, MARCHF7, METAP1D, METTL5, METTL8, MYO3B, NOSTRIN, PDK1, PHOSPHO2, PLA2R1, PPIG, PSMD14, RAPGEF4, RBMS1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SLC25A12, SLC38A11, SLC4A10, SP5, SPC25, SSB, STK39, TANK, TBR1, TLK1, TTC21B, UBR3, XIRP2 1 0 0 0 0 0 0 1
ABI2, ACADL, ADAM23, ALS2, ANKAR, ANKRD44, AOX1, ASNSD1, BMPR2, BOLL, BZW1, C2CD6, C2orf66, C2orf69, C2orf80, C2orf88, CALCRL, CARF, CASP10, CASP8, CAVIN2, CCDC150, CCNYL1, CD28, CDK15, CFLAR, CLK1, CMKLR2, COL3A1, COL5A2, COQ10B, CPO, CPS1, CREB1, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP20A1, DIRC1, DNAH7, DYTN, EEF1B2, ERBB4, FAM117B, FAM171B, FASTKD2, FLACC1, FSIP2, FTCDNL1, FZD5, FZD7, GLS, GTF3C3, GULP1, HECW2, HIBCH, HSPD1, HSPE1, HYCC2, ICA1L, ICOS, IDH1, INO80D, INPP1, ITGAV, KANSL1L, KCTD18, KLF7, LANCL1, MAIP1, MAP2, MARS2, MDH1B, METTL21A, MFSD6, MOB4, MPP4, MSTN, MYL1, MYO1B, NAB1, NABP1, NBEAL1, NDUFB3, NDUFS1, NEMP2, NIF3L1, NOP58, NRP2, ORC2, ORMDL1, OSGEPL1, PARD3B, PCGEM1, PGAP1, PIKFYVE, PLCL1, PLEKHM3, PMS1, PPIL3, PTH2R, RAPH1, RFTN2, RPE, SATB2, SF3B1, SGO2, SLC39A10, SLC40A1, SPATS2L, STAT1, STAT4, STK17B, STRADB, SUMO1, TFPI, TMEFF2, TMEM237, TRAK2, TYW5, UNC80, WDR12, WDR75, ZC3H15, ZDBF2, ZNF804A, ZSWIM2 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DIS3L2, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, RTP5, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ALPG, ALPI, ALPP, ANKMY1, ANO7, AQP12A, AQP12B, ARL4C, ASB1, ASB18, ATG16L1, ATG4B, BOK, CAPN10, CHRND, CHRNG, COL6A3, COPS8, COPS9, D2HGDH, DGKD, DNAJB3, DTYMK, DUSP28, ECEL1, EFHD1, EIF4E2, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GIGYF2, GPC1, GPR35, HDAC4, HDLBP, HES6, HJURP, ILKAP, ING5, IQCA1, KCNJ13, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MROH2A, MTERF4, NDUFA10, NEU2, NEU4, NGEF, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, PRSS56, RAB17, RAMP1, RBM44, RNPEPL1, SAG, SCLY, SEPTIN2, SH3BP4, SNED1, SNORC, SPP2, STK25, THAP4, TIGD1, TRAF3IP1, TRPM8, TWIST2, UBE2F, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LOC100128563, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, OR6B2, OR6B3, OTOS, PASK, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, CAPN10-DT, COL6A3, COPS8, COPS8-DT, COPS9, CROCC2, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FAM240C, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LINC01107, LINC01237, LINC01238, LINC01880, LINC01881, LINC01937, LINC01940, LINC02610, LINC02991, LINC03100, LOC100287387, LOC106783501, LOC110121201, LOC110121227, LOC110121229, LOC110121230, LOC110121236, LOC110599582, LOC111501790, LOC112840913, LOC112840914, LOC112840915, LOC112840918, LOC112840919, LOC112840920, LOC115947637, LOC115947638, LOC115947639, LOC121009633, LOC121009634, LOC121009635, LOC121725125, LOC121725126, LOC122889010, LOC122889011, LOC122889012, LOC122889013, LOC122889014, LOC122889015, LOC122889016, LOC126806572, LOC126806573, LOC126806574, LOC126806575, LOC126806576, LOC126806577, LOC126806578, LOC126806579, LOC126806580, LOC126806581, LOC126806582, LOC126806583, LOC126806584, LOC129389012, LOC129389013, LOC129389014, LOC129389015, LOC129389016, LOC129935916, LOC129935917, LOC129935918, LOC129935919, LOC129935920, LOC129935921, LOC129935922, LOC129935923, LOC129935924, LOC129935925, LOC129935926, LOC129935927, LOC129935928, LOC129935929, LOC129935930, LOC129935931, LOC129935932, LOC129935933, LOC129935934, LOC129935935, LOC129935936, LOC129935937, LOC129935938, LOC129935939, LOC129935940, LOC129935941, LOC129935942, LOC129935943, LOC129935944, LOC129935945, LOC129935946, LOC129935947, LOC129935948, LOC129935949, LOC129935950, LOC129935951, LOC129935952, LOC129935953, LOC129935954, LOC129935955, LOC129935956, LOC129935957, LOC129935958, LOC129935959, LOC129935960, LOC129935961, LOC129935962, LOC129935963, LOC129935964, LOC129935965, LOC129935966, LOC129935967, LOC129935968, LOC129935969, LOC129935970, LOC129935971, LOC129935972, LOC129935973, LOC129935974, LOC129935975, LOC129935976, LOC129935977, LOC129935978, LOC129935979, LOC129935980, LOC129935981, LOC129935982, LOC129935983, LOC129935984, LOC129935985, LOC129935986, LOC129935987, LOC129935988, LOC129935989, LOC129935990, LOC129935991, LOC129935992, LOC129935993, LOC129935994, LOC129935995, LOC129935996, LOC129935997, LOC129935998, LOC129935999, LOC129936000, LOC129936001, LOC129936002, LOC129936003, LOC129936004, LOC129936005, LOC129936006, LOC129936007, LOC129936008, LOC129936009, LOC129936010, LOC129936011, LOC129936012, LOC129936013, LOC129936014, LOC129936015, LOC129936016, LOC129936017, LOC129936018, LOC129936019, LOC129936020, LOC129936021, LOC129936022, LOC129936023, LOC129936024, LOC129936025, LOC129936026, LOC129936027, LOC129936028, LOC129936029, LOC129936030, LOC129936031, LOC129936032, LOC129936033, LOC129936034, LOC132088825, LOC132088826, LOC132088827, LOC132088828, LOC132088829, LOC132088830, LOC132088831, LOC132088832, LOC132088833, LOC132088834, LOC132088835, LOC132088836, LOC132088837, LOC132090688, LOC132090689, LOC132090690, LOC132205954, LOC150935, LOC285097, LOC285191, LOC93463, LRRFIP1, MAB21L4, MGC16025, MIR149, MIR2467, MIR3133, MIR4269, MIR4440, MIR4441, MIR4786, MIR6811, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAB17-DT, RAMP1, RBM44, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, TANAR, THAP4, TRAF3IP1, TWIST2, UBE2F, UBE2F-SCLY, UICLM 1 0 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RAMP1, RNPEPL1, RTP5, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 0 1 0 0 0 0 0 1
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, LOC100128563, MAB21L4, MIR149, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRR21, RNPEPL1, RTP5, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2 1 0 0 0 0 0 0 1
ANKAR, ANKRD44, ASNSD1, BOLL, C2orf66, C2orf88, CAVIN2, CCDC150, COQ10B, DNAH7, GLS, GTF3C3, HECW2, HIBCH, HSPD1, HSPE1, INPP1, MARS2, MFSD6, MOB4, MSTN, MYO1B, NAB1, NABP1, NEMP2, ORMDL1, OSGEPL1, PCGEM1, PGAP1, PLCL1, PMS1, RFTN2, SATB2, SF3B1, SLC39A10, SLC40A1, STAT1, STAT4, STK17B, TMEFF2 1 0 0 0 0 0 0 1
ANKRD44, BOLL, C2orf66, C2orf69, CCDC150, COQ10B, FTCDNL1, GTF3C3, HECW2, HSPD1, HSPE1, KCTD18, MAIP1, MARS2, MOB4, PGAP1, PLCL1, RFTN2, SATB2, SF3B1, SPATS2L, TYW5 1 0 0 0 0 0 0 1
CDH15 0 0 1 0 0 0 0 1
CIC 0 0 1 0 0 0 0 1
EPC2, KIF5C, LOC126806366, LOC126806367, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC132088759, MBD5, ORC4 1 0 0 0 0 0 0 1
EPC2, MBD5 0 1 0 0 0 0 0 1
LOC126806366, LOC126806367, LOC129934887, LOC129934888, MBD5, ORC4 1 0 0 0 0 0 0 1
NHEJ1 1 0 0 0 0 0 0 1
USP34 1 0 0 0 0 0 0 1
WDFY3 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 83 13 687 732 136 0 0 1651
Fulgent Genetics, Fulgent Genetics 2 0 37 11 0 0 0 50
Revvity Omics, Revvity 2 2 26 0 0 0 0 30
Baylor Genetics 8 2 10 0 0 0 0 20
GeneReviews 0 0 0 0 0 0 17 17
OMIM 11 0 2 0 0 1 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 2 0 0 0 13
Mendelics 2 1 3 3 1 0 0 10
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 3 6 1 0 0 0 0 10
3billion 7 2 0 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 4 2 2 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 4 0 0 0 0 7
New York Genome Center 1 0 6 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 0 6
Centogene AG - the Rare Disease Company 0 0 5 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 0 0 0 0 0 0 5
MGZ Medical Genetics Center 0 4 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Molecular Genetics Lab, CHRU Brest 0 1 1 0 0 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
Dr Meenakshi Bhat Group, Centre for Human Genetics 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 1 0 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 1

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