ClinVar Miner

Variants studied for autosomal trisomy

Included ClinVar conditions (23):
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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 risk factor not provided total
72 2 54 14 36 1 1 178

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LMNB1 1 0 21 2 23 0 0 46
FBXW4 0 0 20 11 9 0 0 40
PMP22 10 1 3 0 0 0 1 14
FLCN 2 1 5 0 0 0 0 8
CTDP1 1 0 0 1 4 0 0 6
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 0 4
​intergenic 3 0 0 0 0 0 0 3
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 3 0 0 0 0 0 0 3
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 0 2
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 2 0 0 0 0 0 0 2
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 2 0 0 0 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 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 0 2
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 0 2
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 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 0 1
ABR, BHLHA9, CRK, INPP5K, LOC112529892, LOC112529893, MIR22, MIR22HG, MYO1C, PITPNA, PRPF8, RILP, RPA1, SCARF1, SERPINF1, SERPINF2, SLC43A2, SMYD4, TLCD2, TRARG1, WDR81, YWHAE 1 0 0 0 0 0 0 1
ABR, BHLHA9, CRK, INPP5K, LOC112529892, MYO1C, PITPNA, SCARF1, SLC43A2, TRARG1, YWHAE 1 0 0 0 0 0 0 1
ABR, BHLHA9, CRK, LOC112529892, TRARG1, YWHAE 1 0 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 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-GTT2-7, TUFT1, TXNIP, VPS45, VPS72, ZNF687 1 0 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, TXNIP 1 0 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, TXNIP 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GPR89A, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 0 0 1
ADA2, ADORA2A, AIFM3, ARVCF, ATP6V1E1, BCL2L13, BCR, BID, C22orf15, C22orf39, CABIN1, CCDC116, CCT8L2, CDC45, CECR2, CECR3, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, CRYBB2, CRYBB3, DDT, DDTL, DERL3, DGCR2, DGCR6, DGCR6L, DGCR8, DRICH1, ESS2, FAM230A, GAB4, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GUCD1, HDHD5, HIC2, HIRA, IGLC1, IGLL1, IGLL5, IL17RA, KIAA1671, KLHL22, LRRC75B, LZTR1, MAPK1, MED15, MICAL3, MIF, MIR130B, MMP11, MRPL40, MYO18B, P2RX6, PEX26, PI4KA, PIWIL3, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SGSM1, SLC25A1, SLC25A18, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNRPD3, SPECC1L, SUSD2, TANGO2, TBX1, THAP7, TMEM121B, TMEM191B, TMEM191C, TMEM211, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, UPB1, USP18, USP41, VPREB1, VPREB3, XKR3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74 1 0 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 0 1
ADAMTS2, ARL10, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C5orf47, C5orf60, CANX, CBY3, CDHR2, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, DBN1, DDX41, DOK3, DRD1, DUSP1, EFCAB9, EIF4E1B, ERGIC1, F12, FAF2, FAM153A, FAM153B, FAM193B, FBXW11, FGF18, FGFR4, FLT4, GFPT2, GPRIN1, GRK6, GRM6, HIGD2A, HK3, HNRNPAB, HNRNPH1, HRH2, KIAA1191, LMAN2, LOC100288254, LTC4S, MAML1, MAPK9, MGAT1, MGAT4B, MRNIP, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NKX2-5, NOP16, NPM1, NSD1, OR2V1, OR2V2, OR2Y1, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, RAB24, RACK1, RASGEF1C, RGS14, RMND5B, RNF130, RNF44, RPL26L1, RUFY1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SMIM23, SNCB, SNORA74B, SQSTM1, STC2, STK10, TBC1D9B, THOC3, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, UBTD2, UIMC1, UNC5A, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 1 0 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 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 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 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 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 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 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 0 0 0 0 0 1
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 1 0 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 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 0 1
ALMS1 0 0 1 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 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 0 1
APBA2, ATP10A, ATP10A-DT, CHRFAM7A, CYFIP1, FAM189A1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8J, GOLGA8M, GOLGA8S, GOLGA8T, HERC2, IPW, LINC00929, LINC02249, LINC02250, LINC02346, LOC100130111, LOC100132202, LOC102723623, LOC112272575, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC645202, MAGEL2, MIR4508, MIR4509-1, MIR4509-2, MIR4509-3, MIR4715, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115@, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116@, SNORD64, SNRPN, SNURF, TJP1, TRE-TTC2-2, TUBGCP5, UBE3A 1 0 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 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 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 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 0 1
ASPHD1, C16orf54, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, ZG16 1 0 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 0 1
AUTS2 0 0 1 0 0 0 0 1
BTRC, DPCD, FBXW4, FGF8, KAZALD1, LBX1, NPM3, OGA, POLL, TLX1, TLX1NB 1 0 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 1
COL11A2 0 0 1 0 0 0 0 1
FGFR4, LMAN2, MXD3, NSD1, PRELID1, RAB24 1 0 0 0 0 0 0 1
GATA1 0 0 1 0 0 0 0 1
LOC105374344, RNF212 0 0 0 0 0 1 0 1
RNF135 0 0 1 0 0 0 0 1
SETD5 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 38 13 32 0 0 83
Baylor Genetics 38 0 2 0 0 0 0 40
Fulgent Genetics,Fulgent Genetics 1 1 7 0 0 0 0 9
OMIM 8 0 0 0 0 0 0 8
GeneReviews 7 0 0 0 0 0 0 7
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 4 0 0 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 1 0 0 0 4
Athena Diagnostics Inc 2 1 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 0 3
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 2 0 0 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 2 0 0 0 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Limoges University Hospital Laboratory,Limoges University Hospital 1 0 0 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Obstetrics and Gynecology,Juntendo university 1 0 0 0 0 0 0 1
Cytogenetics & Genomics Research Unit,University of Calcutta 0 0 0 0 0 1 0 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 0 0 0 0 1

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