ClinVar Miner

Variants studied for Autism spectrum disorder

Coded as:
Minimum submission review status: Collection method:
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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 association likely risk allele uncertain risk allele not provided total
79 101 168 167 0 89 1 1 19 622

Gene and significance breakdown #

Total genes and gene combinations: 335
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign association likely risk allele uncertain risk allele not provided total
SHANK2 1 0 44 10 0 0 0 1 56
POGZ 0 2 1 0 47 0 0 0 50
​intergenic 11 14 1 0 0 0 0 0 24
SNHG14, SNRPN, SNURF 0 0 15 2 0 0 0 0 17
CHD8 7 2 2 3 0 0 0 0 14
TSC2 0 1 0 1 0 0 0 12 14
SNHG14, SNRPN 0 0 7 3 0 0 0 0 10
AUTS2 0 1 2 4 0 0 0 0 7
DYNC1H1 0 2 3 2 0 0 0 0 7
KMT2C 1 0 1 5 0 0 0 0 7
NRXN1 3 0 3 1 0 0 0 0 7
ACTL6B 6 0 0 0 0 0 0 0 6
TANC2 0 2 2 2 0 0 0 0 6
SETD2 0 1 0 4 0 0 0 0 5
ANK2 1 0 1 2 0 0 0 0 4
ASH1L 0 0 0 4 0 0 0 0 4
ASXL3 2 0 0 2 0 0 0 0 4
CHD2 1 1 0 2 0 0 0 0 4
CIC 0 1 0 3 0 0 0 0 4
CNTNAP2 0 1 2 1 0 0 0 0 4
KMT2A 0 1 2 1 0 0 0 0 4
KMT2D 0 0 0 4 0 0 0 0 4
LOC105371856, TANC2 0 1 1 2 0 0 0 0 4
MEF2C 2 2 0 0 0 0 0 0 4
SPEN 0 1 0 3 0 0 0 0 4
ARHGEF9 0 0 3 0 0 0 0 0 3
DEAF1 0 2 0 1 0 0 0 0 3
DIP2A 0 1 0 2 0 0 0 0 3
EBF3 1 0 1 1 0 0 0 0 3
KAT6A 1 2 0 0 0 0 0 0 3
KCNMA1 0 1 2 0 0 0 0 0 3
KCNQ2 0 0 1 2 0 0 0 0 3
NTRK2 0 0 1 2 0 0 0 0 3
SHANK3 3 0 0 0 0 0 0 0 3
TCF20 1 0 0 2 0 0 0 0 3
TNRC6B 1 0 0 1 1 0 0 0 3
TSC1 0 0 0 0 0 0 0 3 3
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 2 0 0 0 0 0 0 2
ANKRD11 0 0 0 2 0 0 0 0 2
ARID1B 0 2 0 0 0 0 0 0 2
ASXL1 0 1 0 1 0 0 0 0 2
BRWD3 0 1 1 0 0 0 0 0 2
CACNA1A 0 0 0 2 0 0 0 0 2
CACNA1C 0 0 0 2 0 0 0 0 2
CAMK2B 0 0 1 1 0 0 0 0 2
CDC42BPB 0 1 1 0 0 0 0 0 2
CEP104 0 1 1 0 0 0 0 0 2
CSMD1 0 0 1 0 1 0 0 0 2
CUL3 1 0 1 0 0 0 0 0 2
DCC 1 1 0 0 0 0 0 0 2
DNMT3A 0 1 0 1 0 0 0 0 2
GIGYF1 1 0 1 0 0 0 0 0 2
GJB2 2 0 0 0 0 0 0 0 2
GRIA1 0 1 0 1 0 0 0 0 2
GRIN2B 1 0 0 1 0 0 0 0 2
KCNK3 0 0 0 2 0 0 0 0 2
KDM5B 1 0 0 1 0 0 0 0 2
KIRREL3 0 0 1 0 1 0 0 0 2
MBD5 2 0 0 0 0 0 0 0 2
MECP2 0 1 1 0 0 0 0 0 2
MED13 0 0 0 2 0 0 0 0 2
MYT1L 0 0 0 2 0 0 0 0 2
NALCN 0 0 0 1 1 0 0 0 2
NBEA 1 0 0 1 0 0 0 0 2
NFIB 0 0 0 2 0 0 0 0 2
NINL 0 0 2 0 0 0 0 0 2
NLGN3 0 0 1 0 0 0 0 1 2
NR4A2 0 1 0 1 0 0 0 0 2
PCDH19 0 0 1 1 0 0 0 0 2
PER2 0 0 0 2 0 0 0 0 2
PGAP2 0 0 0 2 0 0 0 0 2
PHF2 0 0 0 2 0 0 0 0 2
PTEN 0 2 0 0 0 0 0 0 2
RNASEH2B 1 0 1 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 0 2
SLITRK5 0 0 0 0 2 0 0 0 2
SMARCA2 0 0 1 1 0 0 0 0 2
SMARCB1 0 1 0 1 0 0 0 0 2
SPTAN1 0 0 0 2 0 0 0 0 2
SRCAP 0 0 1 1 0 0 0 0 2
SYNCRIP 0 0 0 0 2 0 0 0 2
TRANK1 0 0 0 0 2 0 0 0 2
TRAPPC9 1 1 0 0 0 0 0 0 2
TRIO 0 0 0 2 0 0 0 0 2
WDFY3 0 1 0 1 0 0 0 0 2
ZFHX3 0 0 0 2 0 0 0 0 2
ZGRF1 0 2 0 0 0 0 0 0 2
ZNF827 0 0 1 1 0 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3K, ZNHIT3 1 0 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC129390771, LOC129390772, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC131696449, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA6, NPIPA7, NPIPA8, NPIPA9, XYLT1 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR484, MIR6506, MPV17L, MPV17L-BMERB1, MYH11, NDE1 1 0 0 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 0 0 1
ACACB 0 0 0 0 1 0 0 0 1
ACADVL, DLG4 0 0 0 0 1 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, ITGA10, LIX1L, NBPF11, NBPF12, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 0 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 0 0 1
ACR, ADM2, ALG12, ARSA, CHKB, CIMAP1B, CPT1B, CRELD2, DENND6B, HDAC10, IL17REL, KLHDC7B, LMF2, MAPK11, MAPK12, MAPK8IP2, MIOX, MLC1, MOV10L1, NCAPH2, PANX2, PIM3, PLXNB2, PPP6R2, RABL2B, SBF1, SCO2, SELENOO, SHANK3, SYCE3, TRABD, TTLL8, TUBGCP6, TYMP, ZBED4 1 0 0 0 0 0 0 0 1
ACSL4 0 0 1 0 0 0 0 0 1
ACVR1, ACVR1C, CYTIP, ERMN, FLJ46875, GALNT5, GPD2, KCNJ3, LINC01876, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC122847298, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC129388933, LOC129388934, LOC129388935, LOC129934938, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, LOC129934963, LOC129934964, LOC129934965, LOC129934966, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC132088761, NR4A2, TRA-CGC3-1, TRG-GCC2-2 0 1 0 0 0 0 0 0 1
ADNP 0 1 0 0 0 0 0 0 1
AEBP1 0 1 0 0 0 0 0 0 1
AFF4 0 0 0 1 0 0 0 0 1
AFG3L2, CIDEA, LOC105371998, LOC110121440, LOC125368550, LOC130062194, LOC130062195, LOC130062196, LOC130062197, LOC130062198, PRELID3A, SPIRE1, TUBB6 0 0 1 0 0 0 0 0 1
AHDC1 0 0 0 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB11, NPIPB12, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 1 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 1 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146440, LOC125146441, LOC129390783, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 0 1 0 0 0 0 0 0 1
AMACR, C1QTNF3, C1QTNF3-AMACR, LOC121725199, LOC121725200, LOC123493286, LOC126807353, LOC129389270, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, RAI14, RAI14-DT, SLC45A2 0 0 1 0 0 0 0 0 1
ANKRD6, GABRR1, GABRR2, LOC113175020, LOC116183066, LOC121740658, LOC123775382, LOC126859737, LOC126859738, LOC126859739, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LYRM2, MDN1, PM20D2, PNRC1, PNRC1-DT, RNGTT, RRAGD, SRSF12, UBE2J1 0 0 1 0 0 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM3, IRF7, LMNTD2, LOC116216126, LOC124418409, LOC124418411, LOC126861108, LOC126861109, LOC129390246, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC132090831, LOC143666, LRRC56, MIR210, MIR210HG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TMEM80 0 0 1 0 0 0 0 0 1
ARHGAP11A-SCG5, AVEN, CHRM5, EMC4, EMC7, FMN1, GOLGA8A, GREM1, KATNBL1, LOC125078054, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC129390682, LOC129390683, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC132090300, LPCAT4, MIR1233-1, NOP10, NUTM1, PGBD4, RYR3, RYR3-DT, SCG5, SLC12A6 0 0 1 0 0 0 0 0 1
ARID1A 0 0 0 1 0 0 0 0 1
ARID2 0 0 0 1 0 0 0 0 1
ARIH2 0 1 0 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, 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 0 1
ASXL2 0 1 0 0 0 0 0 0 1
ASZ1, CAPZA2, CAV1, CAV2, CFTR, COMETT, FOXP2, LINC01392, LINC01393, LOC100506489, LOC102724434, LOC107986838, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121207, LOC110121252, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674478, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC116186911, LOC121175361, LOC121175362, LOC121740694, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC129389847, LOC129999146, LOC129999147, LOC129999148, LOC129999149, LOC129999150, LOC129999151, LOC129999152, LOC129999153, LOC129999154, LOC129999155, LOC129999156, LOC129999157, LOC129999158, LOC129999159, LOC129999160, LOC129999161, LOC129999162, LOC129999163, LOC129999164, LOC129999165, LOC129999166, LOC129999167, LOC129999168, LOC129999169, LOC129999170, LOC129999171, LOC129999172, LOC129999173, LOC129999174, LOC129999175, LOC129999176, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MDFIC, MET, MIR3666, MIR6132, PPP1R3A, SNORA25B, ST7, ST7-OT3, ST7-OT4, TES, TFEC, WNT2 1 0 0 0 0 0 0 0 1
ATP10A 0 0 0 0 1 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 0 1
ATP10A, CYFIP1, GOLGA6L1, GOLGA6L2, GOLGA6L6, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, 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 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, OCA2, PWAR1, PWAR4, SNORD115-1, UBE3A 1 0 0 0 0 0 0 0 1
ATP2A1, ATXN2L, CD19, LAT, LOC112340393, LOC129390780, LOC129390781, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 1 0 0 0 0 0 0 0 1
AUTS2, LOC110121097 0 0 1 0 0 0 0 0 1
BCL11B 1 0 0 0 0 0 0 0 1
BDP1, CARTPT, LINC02197, LOC113002591, LOC121079944, LOC121079945, LOC121725207, LOC123493335, LOC123497905, LOC129389296, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, MAP1B, MCCC2, MIR4803, MRPS27, PTCD2 0 0 1 0 0 0 0 0 1
BICD2 0 0 1 0 0 0 0 0 1
BICRAL 0 0 1 0 0 0 0 0 1
BIRC6 0 0 0 0 1 0 0 0 1
BMP2K, BMP2K-DT, GK2, LINC00989, LINC01088, LOC101928893, LOC112997535, LOC116158500, LOC129389220, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, NAA11, PAQR3 0 0 1 0 0 0 0 0 1
BRAF, LOC129999507, MRPS33 0 0 1 0 0 0 0 0 1
C9orf72 0 0 1 0 0 0 0 0 1
CACNA1D 0 0 0 1 0 0 0 0 1
CACNB2 0 0 1 0 0 0 0 0 1
CAMK2A 0 0 1 0 0 0 0 0 1
CAPRIN1 0 0 0 1 0 0 0 0 1
CASZ1 0 0 0 1 0 0 0 0 1
CBX3, HNRNPA2B1, LINC02981, LOC110120765, LOC121175338, LOC123956119, LOC129389771, LOC129389772, LOC129998136, LOC129998137, LOC129998138, LOC129998139, LOC129998140, LOC129998141, LOC129998142, LOC129998143, LOC129998144, LOC129998145, LOC129998146, LOC129998147, LOC129998148, LOC129998149, LOC129998150, NFE2L3, SNX10 0 0 1 0 0 0 0 0 1
CDK13 1 0 0 0 0 0 0 0 1
CDK2AP1, KMT5A, LOC112163534, LOC124849272, LOC124849273, LOC129390584, LOC130009080, LOC130009081, LOC130009082, LOC130009083, LOC130009084, LOC130009085, LOC130009086, LOC130009087, LOC130009088, LOC130009089, LOC130009090, LOC130009091, LOC130009092, LOC130009093, LOC130009094, LOC130009095, LOC130009096, LOC130009097, LOC130009098, LOC130009099, LOC130009100, LOC130009101, LOC130009102, LOC130009103, LOC130009104, LOC130009105, LOC130009106, LOC130009107, LOC130009108, LOC130009109, LOC130009110, MIR3908, MIR8072, MPHOSPH9, MTRFR, PITPNM2, RILPL1, RILPL2, SBNO1, SNRNP35 0 0 1 0 0 0 0 0 1
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 0 1
CELSR3 0 0 0 1 0 0 0 0 1
CETN2, LOC126863347, LOC130068811, NSDHL 0 1 0 0 0 0 0 0 1
CHD3 0 0 0 1 0 0 0 0 1
CHD7 0 0 0 1 0 0 0 0 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 0 0 1
CLEC3A, NUDT7, VAT1L, WWOX 0 0 0 0 1 0 0 0 1
CLEC3A, VAT1L, WWOX 0 0 0 0 1 0 0 0 1
CLSTN3 0 0 0 0 1 0 0 0 1
CNOT3 0 0 0 1 0 0 0 0 1
CNTN4 0 0 1 0 0 0 0 0 1
CNTN6 0 1 0 0 0 0 0 0 1
CORO1A 0 0 1 0 0 0 0 0 1
CREM, CUL2, LOC129390164, LOC129390165, LOC130003671, LOC130003672, LOC130003673, LOC130003674, LOC130003675, LOC130003676, LOC130003677, LOC130003678, LOC130003679, LOC130003680, MIR3611 0 0 0 1 0 0 0 0 1
CSMD1, LOC107522030, LOC123987610, LOC126860287, LOC132089598 0 0 1 0 0 0 0 0 1
CSNK2A1 0 1 0 0 0 0 0 0 1
CSNK2B 0 1 0 0 0 0 0 0 1
CUBN 0 1 0 0 0 0 0 0 1
CUX2 0 0 0 1 0 0 0 0 1
CYFIP1 0 0 1 0 0 0 0 0 1
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 1
CYP4V2, FAM149A, FLJ38576, KLKB1, LOC126807249, LOC126807250, LOC126807251, LOC129993524, LOC129993525, LOC129993526, LOC129993527, TLR3 0 0 1 0 0 0 0 0 1
DGCR8 0 0 1 0 0 0 0 0 1
DIP2B 0 0 0 1 0 0 0 0 1
DMXL2 0 0 0 0 1 0 0 0 1
DOCK4 0 0 1 0 0 0 0 0 1
DPF2 0 0 0 1 0 0 0 0 1
DPYSL5 0 0 0 1 0 0 0 0 1
DST 0 0 0 0 1 0 0 0 1
DYRK1A 1 0 0 0 0 0 0 0 1
EED 0 1 0 0 0 0 0 0 1
EIF4A1, SENP3-EIF4A1 0 0 1 0 0 0 0 0 1
ELP4 0 0 0 0 1 0 0 0 1
ELP4, LOC105980003 0 0 0 1 0 0 0 0 1
FAM170A, LOC129994462 0 1 0 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 0 0 1
FASN 0 0 0 0 1 0 0 0 1
FGFR3 0 0 0 1 0 0 0 0 1
FOXG1 0 0 1 0 0 0 0 0 1
FOXP1 0 0 0 1 0 0 0 0 1
FOXP1, LOC110121007, MIR1284 0 0 1 0 0 0 0 0 1
FTSJ1 0 0 1 0 0 0 0 0 1
GABBR2 0 0 1 0 0 0 0 0 1
GABRA5 0 0 0 1 0 0 0 0 1
GABRD 0 0 0 1 0 0 0 0 1
GAPVD1 0 0 0 1 0 0 0 0 1
GATAD2B 0 0 1 0 0 0 0 0 1
GNB1 0 1 0 0 0 0 0 0 1
GRIA4, LOC129390350 0 0 0 1 0 0 0 0 1
GRIN1 0 0 0 1 0 0 0 0 1
GRIN2A, HAPSTR1, LINC01177, LINC01195, LINC02177, LOC101927026, LOC111776217, LOC112486224, LOC112486225, LOC112486226, LOC121530614, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC126862284, LOC126862285, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC132205950, USP7 1 0 0 0 0 0 0 0 1
GRM5 0 0 0 0 1 0 0 0 1
HCP5, HLA-B 0 0 0 0 0 1 0 0 1
HECTD4 0 1 0 0 0 0 0 0 1
HEPACAM 0 1 0 0 0 0 0 0 1
HIVEP2 0 0 0 1 0 0 0 0 1
HK1 1 0 0 0 0 0 0 0 1
HNRNPU 0 0 0 1 0 0 0 0 1
HUWE1 0 0 1 0 0 0 0 0 1
IL1RAPL1 0 0 1 0 0 0 0 0 1
INTS6 0 0 1 0 0 0 0 0 1
IPO9, NAV1 0 0 0 1 0 0 0 0 1
IQSEC2 0 1 0 0 0 0 0 0 1
IRF2BPL 1 0 0 0 0 0 0 0 1
JMJD1C 0 0 0 0 1 0 0 0 1
KCNA2 0 0 0 1 0 0 0 0 1
KCNK9 0 0 0 0 1 0 0 0 1
KCNQ3 0 0 1 0 0 0 0 0 1
KCNS3 0 0 0 0 1 0 0 0 1
KDM3B 0 1 0 0 0 0 0 0 1
KDM6A 1 0 0 0 0 0 0 0 1
KIAA1210, LINC03098, LOC114022705, LOC125467776, LOC125467777, LOC125467778, LOC130068586, LOC130068587, LOC130068588, LOC130068589, LOC130068590, LOC130068591, LOC130068592, LOC130068593, LOC130068594, LOC130068595, LOC130068596, LOC130068597, LOC130068598, LOC130068599, LOC130068600, LOC130068601, LOC130068602, LOC130068603, LOC130068604, LOC130068605, LOC130068606, LOC130068607, LOC130068608, LOC130068609, LOC130068610, MIR766, NKRF, PGRMC1, SEPTIN6, SLC25A43, SLC25A5, STEEP1, UBE2A 0 0 1 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 0 0 1
KMT2E 0 0 0 1 0 0 0 0 1
KMT5B 0 1 0 0 0 0 0 0 1
KRTAP1-3 0 0 0 0 0 0 0 1 1
LAMB1 0 0 0 0 1 0 0 0 1
LARP4B 0 0 0 0 1 0 0 0 1
LAS1L 0 0 1 0 0 0 0 0 1
LIMS3, LIMS3-LOC440895, LIMS4, LINC01106, LINC01123, LOC107305686, LOC112695115, LOC126806305, LOC126806306, LOC128966597, LOC129388899, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, MALL, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MTLN, NPHP1, RANBP2, RGPD5, SEPTIN10, SH3RF3, SOWAHC 0 0 1 0 0 0 0 0 1
LINC00871, LOC126861932, LOC129390627, LOC129390628, LOC130055530, MDGA2, RPL10L 0 0 1 0 0 0 0 0 1
LINC01060, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC129389253, LOC132089108, LOC132089109, LOC132089110, LOC339975, TRIML1, TRIML2, ZFP42 0 0 0 1 0 0 0 0 1
LINC01724, LOC121725067, LOC126805963, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129932151, LOC129932152, LOC132088601, LOC132088602, LOC132090670 0 0 1 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 0 1 0 0 0 0 1
LOC105370589, LOC112272560, LOC129390654, LOC130056199, LOC132090271, NRXN3 0 0 1 0 0 0 0 0 1
LOC105370589, NRXN3 0 0 1 0 0 0 0 0 1
LOC110120747, RANBP17 0 0 1 0 0 0 0 0 1
LOC110121071, LOC129388861, MIR8485, NRXN1 0 1 0 0 0 0 0 0 1
LOC121627969, SYN1 0 0 1 0 0 0 0 0 1
LOC123924905, LOC123924906, LOC123924907, LOC126859945, LOC126859946, LOC129389750, LOC129389751, LOC129998001, LOC129998002 0 0 0 1 0 0 0 0 1
LOC125177356, LOC126862412, LOC130059463, WWOX 0 0 0 0 1 0 0 0 1
LOC125177406, LOC129390821, LOC130059962, LOC130059963, LOC130059964, LOC130059965, LOC130059966, METTL16, PAFAH1B1 0 1 0 0 0 0 0 0 1
LOC126806462, SATB2 0 1 0 0 0 0 0 0 1
LOC126806798, ZNF148 0 0 1 0 0 0 0 0 1
LOC126862442, SLC7A5 0 0 1 0 0 0 0 0 1
LOC129932982, MYT1L 0 1 0 0 0 0 0 0 1
LOC130006303, SHANK2 0 0 0 1 0 0 0 0 1
LOC130065435, LOC130065436, LOC130065437, MACROD2 0 0 1 0 0 0 0 0 1
LOC132088905, NAALADL2 0 0 1 0 0 0 0 0 1
LZTR1 0 0 0 0 1 0 0 0 1
MACROD2 0 0 1 0 0 0 0 0 1
MAGEL2 0 0 1 0 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 0 0 1
MAU2 0 0 0 1 0 0 0 0 1
MCCC2 1 0 0 0 0 0 0 0 1
MCM3AP 0 0 0 0 1 0 0 0 1
MED13L 0 1 0 0 0 0 0 0 1
MIB1 0 0 0 1 0 0 0 0 1
MOCOS 1 0 0 0 0 0 0 0 1
MTF1 0 0 1 0 0 0 0 0 1
MTOR 0 0 0 1 0 0 0 0 1
MYH10 0 0 1 0 0 0 0 0 1
MYT1 0 0 0 0 1 0 0 0 1
NAA15 0 0 1 0 0 0 0 0 1
NEDD4L 0 0 0 1 0 0 0 0 1
NF1 0 1 0 0 0 0 0 0 1
NLGN4X 0 0 1 0 0 0 0 0 1
NR2F1 0 1 0 0 0 0 0 0 1
NR3C2 1 0 0 0 0 0 0 0 1
NRG2 0 0 1 0 0 0 0 0 1
NRXN3 0 0 0 1 0 0 0 0 1
OPHN1 0 0 1 0 0 0 0 0 1
OR4A47, OR4C5 0 0 1 0 0 0 0 0 1
PAFAH1B3 0 0 0 0 1 0 0 0 1
PBX1 1 0 0 0 0 0 0 0 1
PDS5A 0 0 0 0 0 0 0 1 1
PHF21A 0 0 0 1 0 0 0 0 1
PHF3 0 0 0 1 0 0 0 0 1
PHIP 0 0 0 1 0 0 0 0 1
PKP4 0 0 0 1 0 0 0 0 1
PLCG1, TOP1 0 0 0 0 1 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 0 0 1
PPP2R1A 0 0 1 0 0 0 0 0 1
PPP3CA 0 0 0 1 0 0 0 0 1
PQBP1 0 1 0 0 0 0 0 0 1
PRKN 1 0 0 0 0 0 0 0 1
PRNP 0 0 1 0 0 0 0 0 1
PTCHD1 0 1 0 0 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 0 1
PTPN6 0 0 1 0 0 0 0 0 1
PTPRT 0 0 0 0 1 0 0 0 1
PUM2 0 0 1 0 0 0 0 0 1
QRICH1 0 0 1 0 0 0 0 0 1
RBFOX1 0 0 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 0 1
RFX3 0 0 1 0 0 0 0 0 1
RIMS1 0 1 0 0 0 0 0 0 1
RNF135 1 0 0 0 0 0 0 0 1
RPS6KA2 0 0 0 0 1 0 0 0 1
RRP8 0 0 0 0 1 0 0 0 1
SATB1 0 0 1 0 0 0 0 0 1
SBF1 0 1 0 0 0 0 0 0 1
SCAF8 0 0 0 1 0 0 0 0 1
SCN1A, SCN9A 0 0 0 0 0 0 1 0 1
SDK1 0 0 0 0 1 0 0 0 1
SETD1A 0 1 0 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 0 1
SKI 0 0 0 1 0 0 0 0 1
SLC12A2 0 0 0 1 0 0 0 0 1
SLC25A12 0 0 1 0 0 0 0 0 1
SLC3A1 1 0 0 0 0 0 0 0 1
SLC7A5 0 0 1 0 0 0 0 0 1
SLC9A3 0 0 0 0 1 0 0 0 1
SMARCC1 0 0 1 0 0 0 0 0 1
SMC3 0 1 0 0 0 0 0 0 1
SMG9 0 0 0 0 1 0 0 0 1
SOX5 0 0 0 1 0 0 0 0 1
SPG11 0 0 0 0 1 0 0 0 1
SRD5A2 0 1 0 0 0 0 0 0 1
SRSF1 0 0 1 0 0 0 0 0 1
SRSF11 0 0 0 1 0 0 0 0 1
STARD9 0 0 0 0 1 0 0 0 1
STXBP1 0 1 0 0 0 0 0 0 1
STXBP5 0 0 0 1 0 0 0 0 1
TACR3 0 1 0 0 0 0 0 0 1
TAF1 0 0 1 0 0 0 0 0 1
TCF4 1 0 0 0 0 0 0 0 1
THBS1 0 0 0 0 1 0 0 0 1
TM9SF4 0 0 0 1 0 0 0 0 1
TOP2B 0 1 0 0 0 0 0 0 1
TRIP11 0 0 0 1 0 0 0 0 1
TUB 0 0 0 0 1 0 0 0 1
UBN2 0 1 0 0 0 0 0 0 1
UNC5B 0 0 0 1 0 0 0 0 1
UNC79 0 0 1 0 0 0 0 0 1
UPF2 0 0 0 0 1 0 0 0 1
WWOX 0 0 0 0 1 0 0 0 1
ZBTB20 0 0 1 0 0 0 0 0 1
ZDHHC9 0 0 0 1 0 0 0 0 1
ZMIZ1 0 0 0 1 0 0 0 0 1
ZNF716 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign association likely risk allele uncertain risk allele not provided total
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 31 31 61 148 0 0 0 0 271
Illumina Laboratory Services, Illumina 0 0 65 15 0 0 0 0 80
University of Washington Center for Mendelian Genomics, University of Washington 0 22 3 0 41 0 0 0 66
Center of Medical Genetics, Central South University 0 0 0 0 47 0 0 0 47
Liping Wei Laboratory, Peking University 19 22 0 0 0 0 0 0 41
Genetics Department, Polish Mother's Memorial Hospital Research Institute 8 6 20 4 0 0 0 0 38
Gene Friend Way, National Innovation Center 9 6 2 0 0 1 1 0 19
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 12 12
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 5 3 0 0 0 0 0 9
Yale Center for Mendelian Genomics, Yale University 6 0 2 0 0 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 0 2 4 0 0 0 0 0 6
GenomeConnect - Simons Searchlight 4 1 0 0 0 0 0 0 5
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 0 3 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 3 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Bicknell laboratory, University of Otago 1 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 0 1
Geschwind lab, University of California Los Angeles 1 1 1 0 1 0 0 0 1
Clinics for Rare Diseases Referral (Hong Kong), The University of Hong Kong 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1
Oasi Research Institute-IRCCS 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1

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