ClinVar Miner

Variants studied for Autistic disorder of childhood onset

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign total
3 4 34 4 1 44

Gene and significance breakdown #

Total genes and gene combinations: 89
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AMPD1 0 0 10 3 0 13
SHANK2 0 0 6 0 0 6
SHANK3 0 0 5 0 0 5
CDKL5 1 0 1 0 0 2
NRXN3 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
AATBC, ADARB1, AGPAT3, AIRE, C21orf58, CFAP410, COL18A1, COL6A1, COL6A2, CSTB, DIP2A, DIP2A-IT1, DNMT3L, FAM207A, FTCD, GATD3A, H2BS1, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00205, LINC00313, LINC00316, LINC00319, LINC00334, LINC01424, LINC01547, LINC01678, LINC01694, LINC02575, LOC101928796, LOC108251799, LOC108254685, LOC108281139, LOC108281151, LOC109029533, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LRRC3, LRRC3-DT, LRRC3DN, LSS, MCM3AP, MIR6070, MIR6815, PCBP3, PCNT, PDXK, PFKL, PICSAR, POFUT2, PRMT2, PTTG1IP, PWP2, RRP1, RRP1B, S100B, SIK1, SLC19A1, SNORD159, SPATC1L, SUMO3, TRAPPC10, TRPM2, TSPEAR, UBE2G2, YBEY 0 1 0 0 0 1
AATF, ACACA, C17orf78, CCL3L3, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC110120862, LOC110120863, LOC112529910, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3B, TBC1D3F, TBC1D3G, TBC1D3H, TBC1D3I, TBC1D3J, TBC1D3K, TBC1D3L, ZNHIT3 1 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC110120862, LOC110120863, LOC112529910, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3F, TBC1D3H, TBC1D3J, TBC1D3K, TBC1D3L, ZNHIT3 0 1 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC110120862, LOC110120863, LOC112529910, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3J, ZNHIT3 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, FOPNL, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA2, NPIPA5, NPIPA7, NTAN1, PDXDC1, RRN3 1 0 0 0 0 1
ABCC1, ABCC6, BMERB1, FOPNL, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, MARF1, MIR484, MIR6506, MPV17L, MYH11, NDE1, NPIPA5 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC101926943, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ACE2, ADGRG2, AKAP17A, AMELX, ANOS1, AP1S2, ARHGAP6, ARSD, ARSF, ARSH, ARSL, ASB11, ASB9, ASMT, ASMTL, ATXN3L, BCLAF3, BEND2, BMX, CA5B, CA5BP1-CA5B, CBLL2, CD99, CDKL5, CLCN4, CLDN34, CLTRN, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CNKSR2, CRLF2, CSF2RA, CTPS2, DHRSX, EGFL6, EIF1AX, FAM9A, FAM9B, FAM9C, FANCB, FRMPD4, GEMIN8, GLRA2, GPM6B, GPR143, GRPR, GS1-594A7.3, GS1-600G8.3, GTPBP6, GYG2, HCCS, IL3RA, INE2, KLHL34, LINC00102, LINC00106, LINC00685, LINC01203, LINC01456, LINC01546, LINC02154, LOC101928201, LOC101928389, LOC105373156, LOC106029240, LOC106029241, LOC106799844, LOC107652445, LOC108251802, LOC108251803, LOC111242786, LOC111365193, LOC113845783, LOC113845784, LOC113845789, LOC113875006, LOC113875013, LOC113875037, LOC113875040, LOC729609, MAGEB17, MAP3K15, MAP7D2, MBTPS2, MID1, MIR23C, MIR3690, MIR4767, MIR4768, MIR4770, MIR548AM, MIR548AX, MIR6086, MIR6089, MIR651, MOSPD2, MSL3, MXRA5, NHS, NLGN4X, OFD1, P2RY8, PDHA1, PHEX, PHKA2, PIGA, PIR, PIR-FIGF, PLCXD1, PNPLA4, PPEF1, PPP2R3B, PRKX, PRPS2, PTCHD1, PUDP, RAB9A, RAI2, RBBP7, REPS2, RPS6KA3, RS1, S100G, SCARNA9L, SCML1, SCML2, SH3KBP1, SHOX, SHROOM2, SLC25A6, SMPX, SMS, SNORA48B, STS, SYAP1, TBL1X, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2, TRI-GAT1-1, TRI-GAT1-2, TRI-GAT1-3, TRV-TAC1-2, TXLNG, VCX, VCX2, VCX3A, VCX3B, VEGFD, WWC3, XG, YY2, ZBED1, ZRSR2 0 1 0 0 0 1
ACTL9, ADAMTS10, ANGPTL4, CCL25, CD320, CERS4, COL5A3, ELAVL1, FBN3, FBXL12, HNRNPM, KANK3, LOC100505555, LOC111413022, LOC112577458, MARCHF2, MBD3L1, MIR4999, MUC16, MYO1F, NDUFA7, OLFM2, OR1M1, OR2Z1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PIN1, PRAM1, RAB11B, RDH8, RPS28, UBL5, ZNF121, ZNF177, ZNF266, ZNF317, ZNF414, ZNF426, ZNF426-DT, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF699, ZNF846 0 1 0 0 0 1
ACTR3B, BLACE, CNPY1, DNAJB6, DPP6, EN2, HTR5A, INSIG1, LINC00244, LINC01003, LINC01006, LINC01022, LINC01287, LMBR1, LOC100286906, LOC100506302, LOC100506585, LOC101927914, LOC101929998, LOC106049962, LOC110121044, LOC110121094, LOC110599567, LOC113687206, LOC113687207, LOC113687208, LOC114004407, LOC114255744, LOC285889, LOC389602, MIR153-2, MIR5707, MIR595, MNX1, NCAPG2, NOM1, PAXIP1, PTPRN2, RBM33, RNF32, SBE2, SHH, UBE3C, XRCC2, ZRS 0 1 0 0 0 1
ADCYAP1, CETN1, CLUL1, COLEC12, ENOSF1, LINC00470, LINC01904, LINC01925, LINC02564, LOC112538442, LOC112543431, LOC112543438, MIR8078, THOC1, TUBB8B, TYMS, TYMSOS, USP14, YES1 0 1 0 0 0 1
AGAP1, LOC112840912 0 1 0 0 0 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, C1orf194, CD53, CELSR2, CEPT1, CHI3L2, CHIA, CLCC1, CSF1, CYB561D1, CYMP, DENND2D, DRAM2, EPS8L3, FAM102B, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KIAA1324, LAMTOR5, LINC01397, LINC01661, LINC01676, LINC01677, LINC02586, LOC101928436, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PIFO, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RNPC3, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, WDR47 0 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, ESS2, FAM230B, FAM230G, GGT2, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC284865, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, COMT, CRKL, DGCR6L, DGCR8, FAM230B, FAM230G, FAM230H, GGT2, GNB1L, GP1BB, HIC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01637, LINC01651, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC284865, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RIMBP3B, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TMEM191C, TRMT2A, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, COPS3, DRC3, DRG2, EPN2, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LINC02076, LINC02090, LLGL1, LOC102724624, LOC105371566, LOC106020709, LOC106020710, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC284191, LOC388436, LOC79999, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2 1 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, LGALS9C, LINC02076, LINC02090, LLGL1, LOC102724624, LOC105371566, LOC106020709, LOC108745275, LOC110121461, LOC111556156, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC284191, LOC388436, LOC79999, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16L, TRW-CCA2-1, TVP23B, ULK2 1 0 0 0 0 1
AKAP17A, AMELY, ASMT, ASMTL, BPY2, BPY2B, BPY2C, CD99, CDY1, CDY1B, CDY2A, CDY2B, CNE-2, CNE-3, CNE-5, CNE4, CNE5, CNE6, CNE7, CNE8, CNE9, CRLF2, CSF2RA, DAZ1, DAZ2, DAZ3, DAZ4, DDX3Y, DHRSX, EIF1AY, FAM197Y2, FAM197Y3, FAM197Y4, FAM197Y5, FAM197Y6, FAM197Y7, FAM197Y8, FAM197Y9, FAM224A, FAM224B, FAM41AY1, FAM41AY2, GTPBP6, HSFY1, HSFY2, IL3RA, IL9R, KDM5D, LINC00102, LINC00106, LINC00278, LINC00279, LINC00280, LINC00685, LOC101929148, LOC106128902, LOC106144556, LOC106144557, LOC106144558, LOC106144609, LOC106144610, LOC107522039, LOC107652445, LOC107838685, LOC108004538, LOC108178989, LOC108251802, LOC108251803, LOC108863624, LOC108868752, LOC108868753, MIR12120, MIR3690, MIR6089, MIR9985, NLGN4Y, P2RY8, PCDH11Y, PLCXD1, PPP2R3B, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y1, RPS4Y2, SHOX, SLC25A6, SPRY3, SRY, TBL1Y, TGIF2LY, TMSB4Y, TSPY1, TSPY10, TSPY2, TSPY3, TSPY4, TSPY8, TTTY1, TTTY10, TTTY11, TTTY12, TTTY13, TTTY14, TTTY15, TTTY16, TTTY17A, TTTY17B, TTTY17C, TTTY18, TTTY19, TTTY1B, TTTY2, TTTY20, TTTY21, TTTY21B, TTTY22, TTTY23, TTTY23B, TTTY2B, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY7, TTTY7B, TTTY8, TTTY8B, TTTY9A, TTTY9B, USP9Y, UTY, VAMP7, VCY, VCY1B, WASIR1, XKRY, XKRY2, ZBED1, ZFY 0 1 0 0 0 1
ALDH1A3, LOC101927751 0 1 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MIR3680-2, MVP, NPIPB11, NPIPB12, NPIPB13, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MIR3680-2, MVP, NPIPB12, NPIPB13, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1A-SULT1A3, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MIR3680-2, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALG1L2 0 0 1 0 0 1
ALKAL1, RB1CC1 0 1 0 0 0 1
ANK3 0 0 1 0 0 1
ANK3, ANK3-DT 0 0 1 0 0 1
ANKRD37, C4orf47, CCDC110, CYP4V2, F11, FAM149A, FAT1, FLJ38576, KLKB1, LINC01060, LINC02374, LINC02434, LINC02492, LINC02514, LINC02515, LOC105377590, LOC114827834, LOC339975, LRP2BP, MTNR1A, PDLIM3, SNX25, SORBS2, TLR3, TRIML1, TRIML2, UFSP2, ZFP42 0 1 0 0 0 1
AP3S1, ARL14EPL, ATG12, CCDC112, CDO1, COMMD10, FEM1C, KCNN2, LINC00992, LINC01957, LINC02147, LINC02148, LINC02208, LINC02214, LINC02215, LINC02216, LINCADL, LOC101927078, LOC101927100, LOC101927190, LOC102467217, LOC112997554, LVRN, MIR12130, PGGT1B, SEMA6A, TICAM2, TMED7, TMED7-TICAM2, TRIM36 0 1 0 0 0 1
APBA2, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L22, GOLGA6L7, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, HERC2, IPW, KLF13, LINC00929, LINC02249, LINC02250, LINC02346, LINC02352, LOC100130111, LOC100132202, LOC100996413, LOC102725021, LOC106736464, LOC106736465, LOC106736468, LOC106736476, LOC106736477, LOC106736480, LOC106783506, LOC110121498, LOC112272575, LOC112272576, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC283683, LOC283710, LOC645202, MAGEL2, MIR211, MIR4508, MIR4509-1, MIR4509-2, MIR4509-3, MIR4715, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OTUD7A, 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, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 1
APBA2, FAM189A1, GOLGA6L7, GOLGA8G, GOLGA8J, GOLGA8M, GOLGA8T, LOC100130111, LOC100132202, LOC112272581, MIR4509-3, NSMCE3, TJP1 0 1 0 0 0 1
ARHGAP11B, CHRNA7, FAN1, GOLGA8H, KLF13, LINC02352, LOC102725021, LOC106736468, LOC106736476, LOC106736477, LOC106736480, LOC106783506, LOC110121498, LOC112272582, LOC283710, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1
ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, ESS2, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, LINC00895, LINC00896, LINC01311, LOC108510655, LOC110120888, LOC112694764, LOC112694766, LOC114004361, LOC284865, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR6816, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPT5-GP1BB, SEPTIN5, SLC25A1, SNORA77B, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 1
ASTN2 0 1 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, GOLGA8F, GOLGA8G, GOLGA8M, GOLGA8S, HERC2, IPW, LINC00929, LINC02250, LINC02346, LOC100132202, LOC112272578, LOC112272579, LOC112272580, LOC645202, MAGEL2, MIR4508, MIR4509-2, MIR4509-3, MIR4715, MKRN3, NDN, NPAP1, 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, TRE-TTC2-2, UBE3A 1 0 0 0 0 1
AVPR1B, BLACAT1, C1orf116, C4BPA, C4BPB, CD34, CD46, CD55, CDK18, CNTN2, CR1, CR1L, CR2, CTSE, DSTYK, DYRK3, EIF2D, ELK4, ERLNC1, ETNK2, FAM72A, FCAMR, FCMR, GOLT1A, IKBKE, IL10, IL19, IL20, IL24, KISS1, KLHDC8A, LEMD1, LEMD1-DT, LINC00303, LINC00628, LOC103021295, LOC107548112, LOC110121081, LOC111365207, LOC111429612, LOC112577532, LOC112577533, LOC148696, LOC284581, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR135B, MIR29B2, MIR29B2CHG, MIR29C, MIR6769B, NFASC, NUAK2, NUCKS1, PFKFB2, PIGR, PIK3C2B, PLEKHA6, PLXNA2, PM20D1, PPP1R15B, RAB29, RAB7B, RASSF5, RBBP5, REN, RHEX, SLC26A9, SLC41A1, SLC45A3, SOX13, SRGAP2, TMCC2, TMEM81, TRK-TTT3-1, TRK-TTT3-2, TRK-TTT8-1, YOD1 0 1 0 0 0 1
B3GALT5, BACE2, BRWD1, DSCAM, DSCAM-IT1, FAM3B, GET1, HMGN1, IGSF5, LCA5L, LINC00323, LOC107548109, LOC107548111, LOC110121385, LOC111099027, LOC111188161, MIR3197, MIR4760, MIR6508, MX1, MX2, PCP4, PLAC4, PSMG1, SH3BGR, TMPRSS2, WRB-SH3BGR 0 1 0 0 0 1
BDH1, CEP19, DLG1, FBXO45, LINC00885, LINC01063, LINC02012, LOC111828515, LOC112935924, MELTF, MIR4797, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TCTEX1D2, TFRC, TM4SF19, TM4SF19-TCTEX1D2, UBXN7, WDR53, ZDHHC19 0 1 0 0 0 1
BRWD1 0 0 1 0 0 1
CCDC91, LOC729291 0 1 0 0 0 1
CCT6A, CHCHD2, EGFR, ELDR, HPVC1, LANCL2, LINC01445, LINC01446, LOC100996654, LOC109363672, MRPS17, NIPSNAP2, NUPR2, PHKG1, POM121L12, PSPH, SEC61G, SEPTIN14, SNORA15, SNORA22B, SUMF2, VOPP1, VSTM2A, VSTM2A-OT1, ZNF713 0 1 0 0 0 1
CDR2, EEF2K, LOC111562378, LOC440346, MOSMO, PDZD9, POLR3E, SDR42E2, TRL-AAG2-4, TRL-TAG3-1, UQCRC2, VWA3A 0 1 0 0 0 1
CDRT1, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, HS3ST3B1, LOC101928475, LOC105943586, LOC105943587, LOC112529896, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 0 1 0 0 0 1
CENPE 0 0 1 0 0 1
CHL1, CNTN4, CNTN6, LINC01266, LOC107522028, LOC107522035, LOC111429626 0 1 0 0 0 1
CNTN4, LOC107522028 0 0 1 0 0 1
CNTN5, LINC02553, LINC02713 0 1 0 0 0 1
CNTN6 0 1 0 0 0 1
CNTNAP2 0 1 0 0 0 1
CSMD1 0 1 0 0 0 1
CYFIP1, GOLGA6L1, LOC112272575, LOC112272576, LOC283683, MIR4509-1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 1
DIPK2B, DUSP21, EFHC2, FUNDC1, KDM6A, LINC01204, LINC02595, MIR221, MIR222 0 1 0 0 0 1
DISC1, DISC1-IT1, DISC2, TSNAX-DISC1 0 1 0 0 0 1
DMD 0 1 0 0 0 1
DOCK4 0 1 0 0 0 1
ESYT2, LINC00689, LOC108254663, LOC110121203, NCAPG2, VIPR2, WDR60 0 1 0 0 0 1
FHIT, LOC107325936 0 1 0 0 0 1
FOXN1 0 1 0 0 0 1
FOXP1 0 1 0 0 0 1
GAS8 0 0 0 1 0 1
IGL, IGLV10-54, IGLV11-55, IGLV4-60, IGLV4-69, IGLV6-57, IGLV8-61, LOC112694768, TOP3B 0 1 0 0 0 1
LAMB3 0 0 1 0 0 1
LOC101927159, PTPRT 0 1 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 1
LOC109580097, LOC110121346, LOC110121347, MAB21L1, NBEA 0 1 0 0 0 1
LOC110121071, LOC730100, MIR8485, NRXN1 1 0 0 0 0 1
LOC730100, NRXN1 1 0 0 0 0 1
MACROD2 0 1 0 0 0 1
MACROD2, MACROD2-IT1 0 1 0 0 0 1
MSRA 0 1 0 0 0 1
MYBBP1A 0 0 1 0 0 1
NBEA 0 1 0 0 0 1
NINL 0 1 0 0 0 1
NLGN4X 0 1 0 0 0 1
NR3C2 0 1 0 0 0 1
NR4A2 0 0 0 0 1 1
PCDH15 0 1 0 0 0 1
PRKN 0 1 0 0 0 1
PTPRT 0 1 0 0 0 1
RBFOX1 0 1 0 0 0 1
SCN1A 0 0 1 0 0 1
SCN2A 1 0 0 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
UNC13A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
State Key Lab of Medical Genetics, Central South University 0 0 10 3 0 13
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 11 0 0 11
Michaelson Lab,University of Iowa 0 0 5 0 0 5
Laboratorio de Genetica Humana; Universidad de los Andes 0 2 0 1 1 4
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 2
UniProtKB/Swiss-Prot 0 0 2 0 0 2
RettBASE 1 0 1 0 0 2
OMIM 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Department of Psychiatry,Nagoya University 1 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1

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