ClinVar Miner

Variants studied for autosomal anomaly

Included ClinVar conditions (75):
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 not provided total
505 68 666 327 112 9 1656

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NSD1 175 38 92 55 17 0 373
WT1 8 1 108 59 11 0 184
MBD5 16 1 121 30 15 1 181
LOC107982234, WT1 3 0 103 27 9 0 135
NSD2 1 0 56 56 2 0 115
SATB2 30 4 35 20 12 0 100
GATA3 15 1 23 22 10 1 71
ELP4, PAX6 2 0 31 24 12 0 69
MEF2C 18 2 13 7 2 3 44
PMP22 13 1 16 13 1 1 42
TBX1 5 0 23 1 9 0 37
RAI1 12 0 6 0 7 0 25
NFIX 13 3 3 1 1 0 21
SHANK3 10 1 6 0 0 0 17
PAX6 1 0 5 8 1 0 15
PUF60 12 2 1 0 0 1 14
WAC 11 1 0 0 0 0 12
SOX5 6 3 2 0 0 0 11
​intergenic 7 0 0 0 0 0 7
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 7 0 0 0 0 0 7
SIN3A 7 0 0 0 0 0 7
TELO2 6 2 1 0 0 0 7
FLCN 1 1 4 0 0 0 6
NFIA 4 2 0 0 0 0 6
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 5 0 0 0 0 0 5
HDAC4 0 0 3 2 0 0 5
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, USP18, USP41, ZDHHC8, ZNF74 4 0 0 0 0 0 4
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 4 0 0 0 0 0 4
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 4 0 0 0 0 0 4
CTDP1 1 0 0 0 3 0 4
LOC106014249, PAX6 0 0 4 0 0 0 4
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 3 0 0 0 0 0 3
ELN 0 0 3 0 0 0 3
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1 0 0 0 0 1 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 2
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, TUBA8, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 0 2
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, 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 2 0 0 0 0 0 2
APC2 1 0 1 0 0 0 2
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 2 0 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 0 2
C22orf39, CDC45, CLDN5, CLTCL1, DGCR2, ESS2, GP1BB, GSC2, HIRA, MRPL40, PRODH, SEPTIN5, SLC25A1, TBX1, TSSK2, UFD1 2 0 0 0 0 0 2
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1 2
EXT1 0 0 0 2 0 0 2
FLI1 0 2 0 0 0 0 2
LMNB1 1 0 1 0 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 2
LOC110120888, TBX1 2 0 0 0 0 0 2
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CERK, CHKB, CPT1B, CRELD2, CYB5R3, CYP2D6, DENND6B, EFCAB6, FAM118A, FBLN1, GRAMD4, GTSE1, HDAC10, IL17REL, KIAA0930, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIRLET7A3, MIRLET7B, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NFAM1, NUP50, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR5, PRR5-ARHGAP8, RIBC2, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SELENOO, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TCF20, TRABD, TRMU, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, CCL18, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MRPL45, MYO19, PIGW, SYNRG, TADA2A, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3H, ZNHIT3 1 0 0 0 0 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 0 0 0 0 1
ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf91, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SLX4, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 1 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, FOPNL, MARF1, MPV17L, MYH11, NDE1, NPIPA5, RRN3 0 0 0 0 0 1 1
ABHD11, BAZ1B, BCL7B, BUD23, CASTOR2, CCL24, CCL26, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LAT2, LIMK1, MDH2, METTL27, MIR590, MLXIPL, NCF1, POM121C, POR, RCC1L, RFC2, RHBDD2, SPDYE5, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TRIM73, VPS37D, YWHAG, ZP3 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, GTF2IRD2, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NCF1, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 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 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 1 0 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 0 1
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, ATP5ME, BLOC1S4, C4orf48, C4orf50, CCDC96, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HTRA3, HTT, IDUA, JAKMIP1, KIAA0232, LETM1, LINC01587, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR95, MRFAP1, MRFAP1L1, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NKX1-1, NOP14, NSD2, NSG1, OTOP1, PCGF3, PDE6B, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SORCS2, SPON2, STK32B, STX18, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TNIP2, TRMT44, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 1 0 0 0 0 0 1
ABR, BHLHA9, CRK, LOC112529892, TRARG1, YWHAE 1 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, C11orf45, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FAM118B, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, NCAPD3, NFRKB, NTM, OPCML, PATE1, PATE2, PATE3, PATE4, PRDM10, PUS3, RPUSD4, SNX19, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, THYN1, TIRAP, TMEM45B, TP53AIP1, VPS26B, ZBTB44 1 0 0 0 0 0 1
ACAD8, GLB1L3, IGSF9B, JAM3, LINC02743, NCAPD3, OPCML, SPATA19, THYN1, VPS26B 1 0 0 0 0 0 1
ACADSB, ARMS2, ATE1, ATRNL1, BAG3, BTBD16, BUB3, C10orf120, C10orf82, C10orf88, CACUL1, CASC2, CCDC172, CUZD1, DENND10, DMBT1, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FGFR2, GFRA1, GRK5, HMX2, HMX3, HSPA12A, HTRA1, IKZF5, INPP5F, KCNK18, MCMBP, NANOS1, NSMCE4A, PDZD8, PLEKHA1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRDX3, PRLHR, PSTK, RAB11FIP2, RGS10, SEC23IP, SFXN4, SHTN1, SLC18A2, TACC2, TIAL1, VAX1, WDR11 1 0 0 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73, ZBTB48 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACBD7, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ANKRD16, ARL5B, ASB13, ATP5F1C, BEND7, C1QL3, CACNB2, CALML3, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CUBN, DCLRE1C, DHTKD1, ECHDC3, FAM107B, FAM171A1, FBH1, FRMD4A, GATA3, GDI2, HACD1, HSPA14, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIN, MCM10, MEIG1, MINDY3, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, PFKFB3, PHYH, PRKCQ, PROSER2, PRPF18, PTER, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SLC39A12, ST8SIA6, STAM, SUV39H2, TAF3, TASOR2, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM 1 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 1
ACOD1, ALG11, ARL11, ATP7B, ATXN8OS, BORA, C13orf42, CAB39L, CCDC70, CDADC1, CKAP2, CLN5, CNMD, COMMD6, CYSLTR2, DACH1, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, EBPL, EDNRB, FAM124A, FBXL3, FNDC3A, HNRNPA1L2, INTS6, ITM2B, KCNRG, KCTD12, KLF12, KLF5, KLHL1, KPNA3, LINC00331, LINC00333, LINC00345, LINC00347, LINC00348, LINC00351, LINC00355, LINC00358, LINC00364, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00381, LINC00382, LINC00383, LINC00392, LINC00393, LINC00395, LINC00402, LINC00430, LINC00434, LINC00444, LINC00446, LINC00448, LINC00458, LINC00459, LINC00462, LINC00550, LINC00558, LINC00561, LINC00562, LINC00564, LINC01038, LINC01052, LINC01065, LINC01068, LINC01069, LINC01074, LINC01075, LINC01078, LINC01080, LINC01442, LINC02333, LINC02338, LINC02339, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC101929657, LOC102723968, LOC105370203, LOC107457599, LOC107882127, LOC107882129, LOC109461478, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120897, LOC110120909, LOC110120945, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC113939939, LOC647264, LOC780529, LPAR6, MED4, MIR1297, MIR15A, MIR16-1, MIR3169, MIR3613, MIR3665, MIR4703, MIR4704, MIR5007, MIR548X2, MIR5693, MIR759, MLNR, MYCBP2, MZT1, NDFIP2, NEK3, NEK5, NUDT15, OBI1, OLFM4, PCDH17, PCDH20, PCDH8, PCDH9, PHF11, PIBF1, POU4F1, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RB1, RB1-DT, RBM26, RCBTB1, RCBTB2, RNASEH2B, SCEL, SERPINE3, SETDB2, SETDB2-PHF11, SLAIN1, SLITRK1, SLITRK6, SNORA107, SPRY2, SPRYD7, SUCLA2, SUGT1, TBC1D4, TDRD3, THSD1, TMEM272, TRIM13, UCHL3, UTP14C, VPS36, WDFY2 1 0 0 0 0 0 1
ACP6, ADAMTSL4, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, ARNT, BCL9, BNIPL, BOLA1, C1orf54, C1orf56, C1orf68, C2CD4D, CA14, CD160, CDC42SE1, CELF3, CERS2, CGN, CHD1L, CIART, CRCT1, CRNN, CTSK, CTSS, ECM1, ENSA, FALEC, FAM72C, FCGR1A, FLG, FLG2, FMO5, GABPB2, GJA5, GJA8, GOLPH3L, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HJV, HORMAD1, HRNR, ITGA10, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LINGO4, LIX1L, LYSMD1, MCL1, MINDY1, MLLT11, MRPL9, MRPS21, MTMR11, NBPF10, NBPF11, NBPF12, NBPF15, NOTCH2NLA, NUDT17, OAZ3, OTUD7B, PDE4DIP, PDZK1, PEX11B, PI4KB, PIAS3, PIP5K1A, PLEKHO1, POGZ, POLR3C, POLR3GL, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, RBM8A, RFX5, RIIAD1, RNF115, RORC, RPRD2, RPTN, S100A10, S100A11, SCNM1, SELENBP1, SEMA6C, SETDB1, SF3B4, SMCP, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SV2A, TARS2, TCHH, TCHHL1, TDRKH, THEM4, THEM5, TMOD4, TNFAIP8L2, TRH-GTG2-1, TRN-GTT2-1, TRN-GTT9-1, TRQ-CTG3-1, TUFT1, TXNIP, VPS45, VPS72, ZNF687 1 0 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LIX1L, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, RNF115, TRN-GTT9-1, TRQ-CTG3-1, TXNIP 1 0 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, RNF115, TRN-GTT9-1, TRQ-CTG3-1, TXNIP 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GPR89A, NBPF11, NBPF12, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1 0 0 0 0 0 1
ACR, ADM2, ALG12, ARSA, BRD1, CHKB, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, ODF3B, PANX2, PIM3, PLXNB2, PPP6R2, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TAFA5, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101927817, LOC101928737, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, C16orf95, CA5A, CBFA2T3, CDH15, CDT1, CTU2, CYBA, FBXO31, GALNS, IL17C, JPH3, KLHDC4, LOC101928737, MAP1LC3B, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SLC7A5, SNAI3, TRAPPC2L, ZC3H18, ZCCHC14, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, LOC101927817, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SNAI3, SPG7, TRAPPC2L, ZC3H18, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, LOC101927817, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, SPG7, TRAPPC2L, ZC3H18, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, LOC101927817, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, TRAPPC2L, ZC3H18, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, GALNS, LOC101927817, PABPN1L, PIEZO1, RNF166, SLC22A31, SPG7, TRAPPC2L, ZNF778 1 0 0 0 0 0 1
ACSF3, ANKRD11, CDH15, LOC101927817, SLC22A31, ZNF778 1 0 0 0 0 0 1
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GAB4, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TRMT2A, TSSK2, TUBA8, TXNRD2, UFD1, USP18, XKR3, ZDHHC8 1 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, GAB4, HDHD5, IL17RA, MICAL3, PEX26, SLC25A18, TMEM121B, TUBA8, USP18 1 0 0 0 0 0 1
ADA2, CECR3, GAB4, HDHD5, IL17RA, TMEM121B, XKR3 1 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BACH1, BACH1-IT2, BACH1-IT3, CCT8, CLDN17, CLDN8, CYYR1, D21S2088E, GABPA, GRIK1, HUNK, JAM2, KRTAP11-1, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LINC00113, LINC00158, LINC00159, LINC00161, LINC00189, LINC00307, LINC00308, LINC00314, LINC00317, LINC00515, LINC01425, LINC01673, LINC01684, LINC01687, LINC01689, LINC01692, LINC01695, LINC01697, LOC107403075, LOC110121429, LOC112694735, LOC150051, LTN1, MAP3K7CL, MIR155, MIR155HG, MIR4327, MIR4759, MIR6130, MIS18A, MRAP, MRPL39, N6AMT1, RWDD2B, SCAF4, SNORA80A, SOD1, TIAM1, URB1, USP16 1 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BAGE2, BTG3, C21orf91, C21orf91-OT1, CHODL, CXADR, CYYR1, D21S2088E, GABPA, HSPA13, JAM2, LINC00158, LINC00308, LINC00317, LINC00320, LINC00515, LINC01425, LINC01549, LINC01674, LINC01683, LINC01684, LINC01687, LINC01689, LINC01692, LINC02246, LINC02573, LIPI, LOC105377134, LOC107403075, LOC107403153, LOC110121341, LOC110121368, LOC110121429, LOC112694732, LOC112694733, LOC112694734, LOC388813, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR4759, MIR548X, MIR548XHG, MIR6130, MIR8069-2, MIR99A, MIR99AHG, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, SNORD74B, TMPRSS15, TPTE, TRG-GCC1-5, USP25 1 0 0 0 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, C21orf91-OT1, CHODL, CXADR, CYYR1, D21S2088E, GABPA, HSPA13, JAM2, LINC00113, LINC00158, LINC00308, LINC00317, LINC00320, LINC00515, LINC01425, LINC01549, LINC01673, LINC01683, LINC01684, LINC01687, LINC01689, LINC01692, LINC02246, LINC02573, LIPI, LOC105377134, LOC107403075, LOC107403153, LOC110121341, LOC110121368, LOC110121429, LOC112694732, LOC112694733, LOC112694734, LOC388813, MIR125B2, MIR155, MIR155HG, MIR4759, MIR548X, MIR548XHG, MIR6130, MIR99A, MIR99AHG, MIRLET7C, MRPL39, NCAM2, NRIP1, RBM11, SAMSN1, SNORD74B, TMPRSS15, TRG-GCC1-5, USP25 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BRD9, C5orf17, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH9, CEP72, CLPTM1L, CMBL, CTNND2, DAP, DNAH5, EXOC3, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX4, LINC01194, LPCAT1, LRRC14B, MARCHF11, MARCHF6, MED10, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULINL, PDCD6, PLEKHG4B, PRDM9, RETREG1, ROPN1L, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622 1 0 0 0 0 0 1
ADAMTS16, ADCY2, AHRR, BRD9, C5orf38, C5orf49, CCDC127, CEP72, CLPTM1L, EXOC3, FASTKD3, ICE1, IRX1, IRX2, IRX4, LPCAT1, LRRC14B, MED10, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PLEKHG4B, SDHA, SEMA5A, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 1
ADGRA3, DHX15, GBA3, KCNIP4, PACRGL, PPARGC1A, SLIT2 1 0 0 0 0 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 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 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 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, USP18, USP41, ZDHHC8, ZNF74 1 0 0 0 0 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 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 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, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
AIFM3, ARVCF, COMT, CRKL, DGCR6L, DGCR8, FAM230A, GGTLC3, GNB1L, KLHL22, LZTR1, MED15, P2RX6, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SERPIND1, SLC7A4, SNAP29, TANGO2, THAP7, TMEM191B, TRMT2A, TXNRD2, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1B, SPN, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, MAPK3, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 0 0 0 0 1
ANKRD11, CPNE7, LOC101927817, RPL13, SPG7 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4N4, OTUD7A, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 1
APBA2, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4N4, OTUD7A, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 0 1
APBA2, ATP10A, CYFIP1, FAM189A1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 0 0 1
APBA2, ATP10A, GABRA5, GABRB3, GABRG3, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 1
APRT, CDT1, CTU2, CYBA, GALNS, IL17C, MVD, PIEZO1, RNF166, SNAI3, ZC3H18, ZFPM1, ZNF469 1 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 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, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, COMT, GNB1L, GP1BB, LOC110120888, LOC112694764, LOC112694766, MIR4761, RTL10, SEPT5-GP1BB, SEPTIN5, TBX1, TXNRD2 1 0 0 0 0 0 1
ASPHD1, C16orf54, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, ZG16 1 0 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 1 0 0 0 0 0 1
ATP2A1, ATXN2L, EIF3C, NUPR1, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 1
AUTS2 0 0 1 0 0 0 1
BCR, CCDC116, GGTLC2, GNAZ, HIC2, IGLC1, IGLL5, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RAB36, RIMBP3C, RSPH14, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 0 1
BDH1, CEP19, DLG1, FBXO45, MELTF, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TCTEX1D2, TFRC, TM4SF19, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 0 1
BEGAIN, DLK1, LINC00523, LOC112163682, MEG3, MEG8, MIR127, MIR136, MIR2392, MIR337, MIR431, MIR432, MIR433, MIR493, MIR665, MIR770, RTL1, SNORD112, WDR25 1 0 0 0 0 0 1
BMPR1A 1 0 0 0 0 0 1
BTRC, DPCD, FBXW4, FGF8, KAZALD1, LBX1, NPM3, OGA, POLL, TLX1, TLX1NB 1 0 0 0 0 0 1
C4orf48, CRIPAK, FAM53A, FGFR3, HAUS3, LETM1, MAEA, MXD4, NAT8L, NELFA, NKX1-1, NSD2, POLN, SLBP, TACC3, TMEM129, UVSSA, ZFYVE28 1 0 0 0 0 0 1
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 0 1
CATSPER2 1 0 0 0 0 0 1
CATSPER2, CKMT1B, STRC 1 0 0 0 0 0 1
CCDC116, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
COMMD4, CSPG4, IMP3, MAN2C1, NEIL1, ODF3L1, PTPN9, SIN3A, SNUPN, SNX33 0 0 1 0 0 0 1
CYC1, EPPK1, EXOSC4, GPAA1, GRINA, HGH1, MAF1, MIR661, NRBP2, OPLAH, PARP10, PLEC, PUF60, SCRIB, SHARPIN, SPATC1 1 0 0 0 0 0 1
DLK1, LOC112163682, MEG3, MIR2392 1 0 0 0 0 0 1
EPC2, KIF5C, MBD5, ORC4 1 0 0 0 0 0 1
ETS1 1 0 0 0 0 0 1
GATA1 0 0 1 0 0 0 1
GJA5 0 0 1 0 0 0 1
LINC02285, MEG3, MEG8, MEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR127, MIR134, MIR136, MIR154, MIR2392, MIR299, MIR300, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR337, MIR369, MIR370, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR431, MIR432, MIR433, MIR485, MIR487A, MIR487B, MIR493, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR544A, MIR654, MIR655, MIR656, MIR665, MIR668, MIR758, MIR770, MIR889, RTL1, SNHG23, SNHG24, SNORD112, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, SNORD114-31, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9 1 0 0 0 0 0 1
LMNA 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
MBD5, ORC4 1 0 0 0 0 0 1
MEG3 1 0 0 0 0 0 1
MIR33B, RAI1, SREBF1, TOM1L2 1 0 0 0 0 0 1
MIR4731, PMP22 1 0 0 0 0 0 1
SMS 0 1 0 0 0 0 1
STRC 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 48 3 340 120 52 0 563
Illumina Clinical Services Laboratory,Illumina 0 0 234 201 49 0 484
Genetic Services Laboratory, University of Chicago 150 27 33 0 0 0 210
OMIM 105 0 3 0 0 0 108
Baylor Miraca Genetics Laboratories, 99 2 0 0 0 0 101
Fulgent Genetics,Fulgent Genetics 9 3 31 0 0 0 43
GeneReviews 32 0 0 0 0 0 32
Center for Human Genetics, Inc 4 5 6 5 1 0 21
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 9 1 0 0 0 12
Athena Diagnostics Inc 3 1 0 0 6 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 1 1 0 0 0 9
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 9 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Laboratoire de Cytogenetique,Hospices Civils de Lyon 4 5 0 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 5 1 0 0 8
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 2 4 0 7
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 6 0 0 0 0 0 6
Undiagnosed Diseases Network,NIH 5 0 1 0 0 0 6
Inherited Neuropathy Consortium 0 0 6 0 0 0 6
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 5 0 0 0 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 0 2 0 0 0 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 0 0 0 0 0 4
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 4 0 0 0 0 0 4
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 3 1 0 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 2 0 0 0 4
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 1 0 0 0 3
Medical Genetics, University of Pavia 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 3
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1
Centro Hospitalar S Joao,Faculty of Medicine of Porto 1 0 0 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Zuffardi lab,University of Pavia 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 1 0 0 0 0 0 1
Limoges University Hospital Laboratory,Limoges University Hospital 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
SBielas Lab, Department of Human Genetics,University of Michigan 1 0 0 0 0 0 1
Dr Meenakshi Bhat Group,Centre for Human Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Research Institute,National Research Institute for Child Health and Development 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 1 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 1
UCSD Department of Pediatrics,University of California, San Diego 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1

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