ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Location: France  Primary collection method: clinical testing
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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 drug response risk factor total
637 620 148 23 5 4 1 1424

Gene and significance breakdown #

Total genes and gene combinations: 753
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
TBR1 2 18 0 0 0 0 0 19
ANKRD11 10 7 0 0 0 0 0 17
VPS13B 6 8 0 0 0 0 0 14
PIK3CA 13 0 0 0 0 0 0 13
MTOR 7 5 0 0 0 0 0 12
TMEM147 12 0 0 0 0 0 0 12
ARFGEF1 11 0 0 0 0 0 0 11
STAG1 0 10 0 0 0 0 0 10
ADGRL1 7 2 0 0 0 0 0 9
DDX3X 2 7 0 0 0 0 0 9
MED13L 1 8 0 0 0 0 0 9
MSL3 1 8 0 0 0 0 0 9
PTPN11 9 0 0 0 0 0 0 9
SCN2A 3 6 0 0 0 0 0 9
SRSF1 8 0 1 0 0 0 0 9
SYNGAP1 6 1 2 0 0 0 0 9
BRCA2 5 3 0 0 0 0 0 8
CREBBP 2 5 1 0 0 0 0 8
ITSN1 0 0 8 0 0 0 0 8
KMT2D 6 2 0 0 0 0 0 8
OFD1 3 5 0 0 0 0 0 8
DYRK1A 3 3 1 0 0 0 0 7
EHMT1 3 4 0 0 0 0 0 7
KMT2A 4 3 0 0 0 0 0 7
MECP2 4 3 0 0 0 0 0 7
POGZ 3 4 0 0 0 0 0 7
ZBTB20 7 1 0 0 0 0 0 7
ZNF292 1 2 3 1 0 0 0 7
ARID1A 2 3 1 0 0 0 0 6
ARID1B 2 4 0 0 0 0 0 6
ASXL1 2 4 0 0 0 0 0 6
DYNC2H1 2 4 0 0 0 0 0 6
KDM5C 1 5 0 0 0 0 0 6
NIPBL 4 2 0 0 0 0 0 6
NR2F1 2 4 0 0 0 0 0 6
NSD1 3 3 0 0 0 0 0 6
PKD1 6 0 0 0 0 0 0 6
ACTB 3 2 0 0 0 0 0 5
AHDC1 3 2 0 0 0 0 0 5
BRAF 4 1 0 0 0 0 0 5
BRAT1 5 0 0 0 0 0 0 5
DNAH11 3 0 2 0 0 0 0 5
DYNC1H1 0 5 0 0 0 0 0 5
FBN1 2 2 0 1 0 0 0 5
KCNB1 2 3 0 0 0 0 0 5
MYBPC3 1 0 4 0 0 0 0 5
PKHD1 0 5 0 0 0 0 0 5
RET 0 1 3 0 1 0 0 5
SCN5A 2 1 1 0 1 0 0 5
SETD5 2 3 0 0 0 0 0 5
TTN 0 2 3 0 0 0 0 5
ALMS1 4 0 0 0 0 0 0 4
CACNA1A 2 2 0 0 0 0 0 4
CDK13 2 3 0 0 0 0 0 4
CFTR 4 0 0 0 0 0 0 4
CHD8 1 3 0 0 0 0 0 4
COL4A1 2 2 0 0 0 0 0 4
COQ8A 0 2 2 0 0 0 0 4
DSG2 1 0 2 1 0 0 0 4
FOXG1 3 1 0 0 0 0 0 4
GATAD2B 1 3 0 0 0 0 0 4
GRIN2B 0 2 2 0 0 0 0 4
KCNQ1 1 3 0 0 0 0 0 4
KCNQ2 4 0 0 0 0 0 0 4
KMT2E 3 0 1 0 0 0 0 4
LARP7 3 1 0 0 0 0 0 4
LOC126862603, SRSF1 3 0 1 0 0 0 0 4
MAN2B1 2 2 0 0 0 0 0 4
NFIX 0 4 0 0 0 0 0 4
PAH 3 1 1 0 0 0 0 4
PURA 2 2 0 0 0 0 0 4
SH3TC2 0 3 1 0 0 0 0 4
SLC6A1 1 3 0 0 0 0 0 4
SOS1 4 0 0 0 0 0 0 4
SYN1 2 1 0 1 0 0 0 4
TCF4 1 3 0 0 0 0 0 4
TGM1 3 1 0 0 0 0 0 4
TUBB3 1 3 0 0 0 0 0 4
ACADM 1 2 0 0 0 0 0 3
ADNP 2 1 0 0 0 0 0 3
AFF4 0 3 0 0 0 0 0 3
ASXL3 1 2 0 0 0 0 0 3
ATRX 1 1 0 1 0 0 0 3
AUTS2 2 1 0 0 0 0 0 3
BCL11A 1 2 0 0 0 0 0 3
CDC42BPB 0 0 1 2 0 0 0 3
CHD3 0 2 1 0 0 0 0 3
CHD7 3 0 0 0 0 0 0 3
CLCN1 3 0 0 0 0 0 0 3
CNOT1 0 3 0 0 0 0 0 3
COL1A1 2 1 0 0 0 0 0 3
COL2A1 3 0 0 0 0 0 0 3
COL4A5 1 2 0 0 0 0 0 3
CSNK2A1 2 1 0 0 0 0 0 3
CUL3 0 0 3 0 0 0 0 3
DEPDC5 1 2 0 0 0 0 0 3
DHCR7 0 3 0 0 0 0 0 3
DLG4 0 3 0 0 0 0 0 3
DLL1 1 1 1 0 0 0 0 3
EBF3 2 1 0 0 0 0 0 3
EP300 1 2 0 0 0 0 0 3
GNAQ 3 0 0 0 0 0 0 3
GPC3 2 1 0 0 0 0 0 3
KAT6A 1 2 0 0 0 0 0 3
KAT6B 1 2 0 0 0 0 0 3
KCNT1 1 2 0 0 0 0 0 3
KIF1A 3 0 0 0 0 0 0 3
KLHL7 0 3 0 0 0 0 0 3
KMT5B 3 0 0 0 0 0 0 3
LARP7, MIR302CHG 2 1 0 0 0 0 0 3
LOC129994826, PURA 1 2 0 0 0 0 0 3
PBX1 1 2 0 0 0 0 0 3
PGAP3 3 0 0 0 0 0 0 3
PHF6 2 1 0 0 0 0 0 3
PHIP 0 3 0 0 0 0 0 3
PHKA2 1 2 0 0 0 0 0 3
PPM1D 1 2 0 0 0 0 0 3
PTEN 2 1 0 0 0 0 0 3
PUF60 1 2 0 0 0 0 0 3
PYCR1 2 1 0 0 0 0 0 3
RECQL4 1 2 0 0 0 0 0 3
SATB2 2 1 0 0 0 0 0 3
SDHB 0 0 2 0 1 0 0 3
SLC13A5 2 1 0 0 0 0 0 3
SLC6A8 2 1 0 0 0 0 0 3
SMPD4 0 3 2 0 0 0 0 3
SOX5 2 1 0 0 0 0 0 3
TAOK1 1 2 0 0 0 0 0 3
TCF20 3 0 0 0 0 0 0 3
TET3 0 2 0 1 0 0 0 3
TUBB 2 1 0 0 0 0 0 3
ZEB2 0 3 0 0 0 0 0 3
ABCC9 0 2 0 0 0 0 0 2
ABHD12 0 2 0 0 0 0 0 2
ALG1 2 0 0 0 0 0 0 2
ALG3 2 0 0 0 0 0 0 2
AMHR2 2 0 0 0 0 0 0 2
ANO10 1 1 0 0 0 0 0 2
AP3B2, CPEB1 0 2 0 0 0 0 0 2
ARHGEF9 1 0 1 0 0 0 0 2
ARID2 0 2 0 0 0 0 0 2
ARSA 1 1 0 0 0 0 0 2
ASPM 2 0 0 0 0 0 0 2
ASXL2 2 0 0 0 0 0 0 2
ATIC 1 0 1 0 0 0 0 2
ATL1 0 2 0 0 0 0 0 2
ATP1A1 0 1 1 0 0 0 0 2
AURKC 2 0 0 0 0 0 0 2
B3GLCT 1 0 1 0 0 0 0 2
BAZ2B, CD302, DPP4, FAP, FIGN, GCA, GCG, IFIH1, ITGB6, KCNH7, LY75, LY75-CD302, MARCHF7, PLA2R1, PSMD14, RBMS1, SLC4A10, TANC1, TANK, TBR1, WDSUB1 0 2 0 0 0 0 0 2
BRPF1 2 0 0 0 0 0 0 2
CAMTA1 1 1 0 0 0 0 0 2
CASK 1 1 0 0 0 0 0 2
CD151 1 1 0 0 0 0 0 2
CDAN1 2 0 0 0 0 0 0 2
CDK10 2 0 0 0 0 0 0 2
CEP55 2 0 0 0 0 0 0 2
CLN3 2 0 0 0 0 0 0 2
COL1A2 1 1 0 0 0 0 0 2
COL4A4 1 1 0 0 0 0 0 2
COL6A3 0 1 1 0 0 0 0 2
CUL4B 1 1 0 0 0 0 0 2
CYFIP2 0 2 0 0 0 0 0 2
CYP2C9 0 0 0 0 0 2 0 2
CYP4F22 1 1 0 0 0 0 0 2
DPP4, FAP, GCG, IFIH1, PSMD14, SLC4A10, TANK, TBR1 0 2 0 0 0 0 0 2
DSP 0 0 2 0 0 0 0 2
DYSF 0 2 0 0 0 0 0 2
EEF1A2 1 1 0 0 0 0 0 2
ERCC2 1 1 0 0 0 0 0 2
FBRSL1 0 0 0 2 0 0 0 2
FGD1 1 0 0 1 0 0 0 2
FGFR2 2 0 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 0 2
FLCN 1 0 1 0 0 0 0 2
FLNA 1 1 0 0 0 0 0 2
FLNB 0 2 0 0 0 0 0 2
FLT4 1 1 0 0 0 0 0 2
FOXL2 2 0 0 0 0 0 0 2
GJB2 2 0 0 0 0 0 0 2
GNAO1 0 2 0 0 0 0 0 2
GNB2 2 0 0 0 0 0 0 2
GRIA2 1 0 1 0 0 0 0 2
GUSB 2 0 0 0 0 0 0 2
HCN1 0 2 0 0 0 0 0 2
HNRNPK 0 2 0 0 0 0 0 2
HNRNPU 2 0 0 0 0 0 0 2
HPDL 0 2 0 0 0 0 0 2
HRAS, LRRC56 2 0 0 0 0 0 0 2
INF2 1 1 0 0 0 0 0 2
IRF6 1 1 0 0 0 0 0 2
JARID2 0 1 0 1 0 0 0 2
KANSL1 1 1 0 0 0 0 0 2
KCNQ3 2 0 0 0 0 0 0 2
KIF11 0 2 0 0 0 0 0 2
KRAS 2 0 0 0 0 0 0 2
LCT 0 2 0 0 0 0 0 2
LHCGR, STON1-GTF2A1L 0 2 0 0 0 0 0 2
LINS1 0 2 0 0 0 0 0 2
LMNA 0 0 2 0 0 0 0 2
LOC110121269, SCN5A 0 1 0 0 1 0 0 2
LONP1 0 2 0 0 0 0 0 2
LRP5 1 1 0 0 0 0 0 2
LSS 2 0 0 0 0 0 0 2
LZTR1 1 0 1 0 0 0 0 2
MAPK8IP3 1 0 1 0 0 0 0 2
MC4R 1 1 0 0 0 0 0 2
MID1 0 2 0 0 0 0 0 2
MRPS22 0 2 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
MT-ND6 1 0 0 0 0 0 1 2
MTM1 1 1 0 0 0 0 0 2
MUSK 0 2 0 0 0 0 0 2
MVP-DT, PRRT2 1 2 0 0 0 0 0 2
MYLK 0 2 0 0 0 0 0 2
NAA10 1 1 0 0 0 0 0 2
NEB 0 2 0 0 0 0 0 2
NEK8 0 2 0 0 0 0 0 2
NF1 1 1 0 0 0 0 0 2
NFIA 2 0 0 0 0 0 0 2
NGLY1 0 2 0 0 0 0 0 2
NHS 2 0 0 0 0 0 0 2
NR4A2 0 1 1 0 0 0 0 2
NUP188 0 2 0 0 0 0 0 2
NUP205 0 0 2 0 0 0 0 2
OCRL 2 0 0 0 0 0 0 2
OTX2 2 0 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 0 2
PDHA1 2 0 0 0 0 0 0 2
PGAP2 1 1 0 0 0 0 0 2
PGM1 2 0 0 0 0 0 0 2
PIGN 1 1 0 0 0 0 0 2
PIK3R2 2 0 0 0 0 0 0 2
PKD2 2 0 0 0 0 0 0 2
PKP2 2 0 0 0 0 0 0 2
PLP1, RAB9B 0 2 0 0 0 0 0 2
PNPLA6 1 0 1 0 0 0 0 2
POLG, POLGARF 2 0 0 0 0 0 0 2
POLR2A 0 1 1 0 0 0 0 2
POMC 2 0 0 0 0 0 0 2
PPP2R5D 0 2 0 0 0 0 0 2
PPT1 1 1 0 0 0 0 0 2
PSMD14, TANK, TBR1 0 2 0 0 0 0 0 2
QRICH1 0 2 0 0 0 0 0 2
RAPSN 2 0 0 0 0 0 0 2
RHOA 1 1 0 0 0 0 0 2
RPS6KA3 0 1 0 1 0 0 0 2
RYR2 0 1 1 0 0 0 0 2
SACS 2 0 0 0 0 0 0 2
SATB1 2 0 0 0 0 0 0 2
SCAF4 0 0 2 0 0 0 0 2
SCN1A 0 2 0 0 0 0 0 2
SCYL2 0 2 0 0 0 0 0 2
SET 1 1 0 0 0 0 0 2
SETBP1 2 0 0 0 0 0 0 2
SGCD 0 0 2 0 0 0 0 2
SKI 1 1 0 0 0 0 0 2
SLC16A2 1 1 0 0 0 0 0 2
SLC26A4 2 0 0 0 0 0 0 2
SLC2A1 0 2 0 0 0 0 0 2
SMARCA2 1 1 0 0 0 0 0 2
SMARCC2 0 2 0 0 0 0 0 2
SMARCE1 1 1 0 0 0 0 0 2
SMO 0 2 0 0 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 0 2
SOX11 1 1 0 0 0 0 0 2
SPAST 1 1 0 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 2 0 0 0 0 0 2
SPG11 0 2 0 0 0 0 0 2
SPG7 1 1 0 0 0 0 0 2
SPTBN2 0 2 0 0 0 0 0 2
SUZ12 0 1 1 0 0 0 0 2
TAF1 0 2 0 0 0 0 0 2
TBX3 1 1 0 0 0 0 0 2
THOC6 0 1 1 0 0 0 0 2
TMC1 2 0 0 0 0 0 0 2
TNNT2 0 0 2 0 0 0 0 2
TOMM70 0 0 1 1 0 0 0 2
TRIT1 0 2 0 0 0 0 0 2
TSC2 2 0 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 0 2
TYR 1 1 0 0 0 0 0 2
USP7 1 1 0 0 0 0 0 2
VWF 1 1 0 0 0 0 0 2
WASHC4 0 2 0 0 0 0 0 2
WDFY3 0 2 0 0 0 0 0 2
WDR26 2 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 2
ZBTB18 0 2 0 0 0 0 0 2
ZDHHC9 0 2 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 1
A2M, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BMAL2, BORCS5, C12orf4, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1S, C2CD5, C3AR1, CACNA1C, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CD163, CD163L1, CD27, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX47, DENND5B, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETV6, FAM234B, FAM90A1, FAR2, FBXL14, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FOXJ2, FOXM1, GABARAPL1, GALNT8, GAPDH, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4C16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IRAG2, ITFG2, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KRAS, LAG3, LDHB, LINC02909, LMNTD1, LMO3, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR141, MIR200C, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, OLR1, OVCH1, P3H3, PARP11, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RBP5, RECQL, REP15, RERG, RERGL, RESF1, RHNO1, RIMKLB, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOX5, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A 1 0 0 0 0 0 0 1
AARS1 1 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 1 0 0 0 0 0 1
ABCA12, SNHG31 1 0 0 0 0 0 0 1
ACE 0 1 0 0 0 0 0 1
ACP5 1 0 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PPIAL4D, PRKAB2, TRN-GTT2-7 1 0 0 0 0 0 0 1
ACTG2 0 1 0 0 0 0 0 1
ACTL6B 1 0 0 0 0 0 0 1
ADGRV1 1 0 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 0 1
AFF2 0 0 1 0 0 0 0 1
AFG2A 1 0 0 0 0 0 0 1
AFG3L2 0 1 0 0 0 0 0 1
AIFM1, RAB33A 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
AIMP1 1 0 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DIRAS3, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, GADD45A, GNG12, HHLA3, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LRRC40, LRRC7, MIER1, MIR101-1, NEGR1, NFIA, PATJ, PDE4B, PGM1, PTGER3, RAVER2, ROR1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-DT 1 0 0 0 0 0 0 1
AKT3 1 0 0 0 0 0 0 1
ALDH18A1 0 1 0 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 0 1
ALPL 1 0 0 0 0 0 0 1
ALS2 0 1 0 0 0 0 0 1
ALX3 0 1 0 0 0 0 0 1
ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LRRC45, MAFG, MCRIP1, METRNL, MRPL12, MYADML2, NARF, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, TBCD, TEX19, TSPAN10, UTS2R, WDR45B, ZNF750 1 0 0 0 0 0 0 1
AMER1 1 0 0 0 0 0 0 1
AMFR 0 0 1 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 0 1
ANO7, HDLBP 0 0 1 0 0 0 0 1
AP4S1 1 0 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 1
APOB 0 0 1 0 0 0 0 1
ARCN1 1 0 0 0 0 0 0 1
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 0 0 1
ARHGAP6, FRMPD4, MSL3 0 1 0 0 0 0 0 1
ARHGAP6, MSL3 0 1 0 0 0 0 0 1
ARHGEF26 0 0 1 0 0 0 0 1
ARID5B 0 0 1 0 0 0 0 1
ARX 1 1 0 0 0 0 0 1
ASCC1 0 1 0 0 0 0 0 1
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 1 0 0 0 0 0 0 1
ATP1A3 1 0 0 0 0 0 0 1
ATP6V0C 0 1 0 0 0 0 0 1
ATP6V1A 0 1 0 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 0 1
ATXN2L 0 0 1 0 0 0 0 1
B4GALT7, CDHR2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM193B, FGFR4, GPRIN1, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, RNF44, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 0 1 0 0 0 0 0 1
BAZ2B 0 0 1 0 0 0 0 1
BCL11B 0 1 0 0 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 0 0 0 1
BEGAIN 0 0 1 0 0 0 0 1
BICRA 0 1 0 0 0 0 0 1
BRCA1 1 0 0 0 0 0 0 1
BRCA1, LOC126862571 1 0 0 0 0 0 0 1
BRD2 0 0 1 0 0 0 0 1
BRD4 0 1 0 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 0 0 1
CACNA1E 1 0 0 0 0 0 0 1
CACNA1G 0 1 0 0 0 0 0 1
CACNA1S 0 0 1 0 0 0 0 1
CAMK2A 0 1 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 0 1
CCND2 0 1 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 0 1
CDC42 0 1 0 0 0 0 0 1
CDH5 0 0 1 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 1
CDKL5 0 1 0 0 0 0 0 1
CDKL5, RS1 1 0 0 0 0 0 0 1
CERS2 0 0 1 0 0 0 0 1
CFTR, LOC111674472 1 0 0 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 0 0 1
CHAMP1 0 1 0 0 0 0 0 1
CHD2 1 0 0 0 0 0 0 1
CIC 0 1 0 0 0 0 0 1
CIT 0 0 1 0 0 0 0 1
CLCN4 0 0 1 0 0 0 0 1
CLDN11 0 0 1 0 0 0 0 1
CLDN9 1 1 0 0 0 0 0 1
CLPB 0 0 1 0 0 0 0 1
CLPB, LOC126861258 1 0 0 0 0 0 0 1
CNGA3 1 0 0 0 0 0 0 1
CNP 0 0 1 0 0 0 0 1
COG7 1 0 0 0 0 0 0 1
COL12A1 0 1 0 0 0 0 0 1
COL3A1 1 0 0 0 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 0 0 1
COL6A1 1 0 0 0 0 0 0 1
CRAT 0 1 0 0 0 0 0 1
CREBBP, TRAP1 0 1 0 0 0 0 0 1
CRYAA 1 0 0 0 0 0 0 1
CSNK2B 1 0 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 0 1
CUEDC1, DYNLL2, DYNLL2-DT, EPX, HSF5, LPO, MKS1, MPO, MRPS23, OR4D1, OR4D2, RNF43, SRSF1, SUPT4H1, TSPOAP1, VEZF1 1 0 0 0 0 0 0 1
CUEDC1, DYNLL2, DYNLL2-DT, EPX, MKS1, MRPS23, MSI2, OR4D1, OR4D2, SRSF1, VEZF1 1 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 1
CYFIP1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, SNURF, TUBGCP5 0 1 0 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 0 1
DAGLA 1 0 0 0 0 0 0 1
DCPS, TIRAP 0 1 0 0 0 0 0 1
DEAF1 0 1 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 1
DKK3 0 0 1 0 0 0 0 1
DLG4, LOC126862479 0 1 0 0 0 0 0 1
DLL3, LOC130064417 0 1 0 0 0 0 0 1
DNAH11, LOC126859961 1 0 0 0 0 0 0 1
DNAH5 1 0 0 0 0 0 0 1
DNAJB11 1 0 0 0 0 0 0 1
DNM1, LOC113839516 0 1 0 0 0 0 0 1
DNM1L 0 1 0 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 1
DOCK6 1 0 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 1
DSCAML1 0 0 1 0 0 0 0 1
DSE, LOC129997035, TSPYL1 0 1 0 0 0 0 0 1
DSE, TSPYL1 0 1 0 0 0 0 0 1
DYM 1 0 0 0 0 0 0 1
EDA 1 0 0 0 0 0 0 1
EFEMP2 1 0 0 0 0 0 0 1
EFNB1 0 1 0 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 0 1
EIF2S3 0 1 0 0 0 0 0 1
EIF3F 1 0 0 0 0 0 0 1
EMILIN3 0 0 1 0 0 0 0 1
ENG 0 0 1 0 0 0 0 1
EOGT 0 0 1 0 0 0 0 1
EOLA1, HSFX2, IDS, MAGEA11, MAGEA9B, TMEM185A 0 0 0 1 0 0 0 1
EPHB4 0 1 0 0 0 0 0 1
EVC2 1 0 0 0 0 0 0 1
EXOSC9 1 0 0 0 0 0 0 1
EYA1 1 0 0 0 0 0 0 1
EZH2 1 0 0 0 0 0 0 1
F11 1 0 0 0 0 0 0 1
FAM111A, LOC130005740 1 0 0 0 0 0 0 1
FAM83H 0 0 1 0 0 0 0 1
FANCA 1 0 0 0 0 0 0 1
FANCA, LOC132090450 0 1 0 0 0 0 0 1
FBN2 0 1 0 0 0 0 0 1
FBXO11 0 1 0 0 0 0 0 1
FERMT1 1 0 0 0 0 0 0 1
FGF8 0 1 0 0 0 0 0 1
FGFR1 1 0 0 0 0 0 0 1
FHOD3 1 0 0 0 0 0 0 1
FIBP 0 1 0 0 0 0 0 1
FKBP14 1 0 0 0 0 0 0 1
FKBP8, LOC112543469 0 0 1 0 0 0 0 1
FKRP 0 1 0 0 0 0 0 1
FOXC1 0 1 0 0 0 0 0 1
FOXF1 1 0 0 0 0 0 0 1
FOXP1 1 0 0 0 0 0 0 1
FOXP3 0 1 0 0 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 0 0 1
FUT8 0 1 0 0 0 0 0 1
GAA 1 0 0 0 0 0 0 1
GABRA1 0 1 1 0 0 0 0 1
GABRB3 0 1 0 0 0 0 0 1
GBA1 1 0 0 0 0 0 0 1
GBA1, LOC106627981 0 1 0 0 0 0 0 1
GCH1 1 0 0 0 0 0 0 1
GDF6 0 0 1 0 0 0 0 1
GFER 0 1 0 0 0 0 0 1
GFER, LOC130058203 0 1 0 0 0 0 0 1
GLDN 0 1 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 1
GLMN 0 1 0 0 0 0 0 1
GLS 0 1 0 0 0 0 0 1
GLT8D2 0 0 1 0 0 0 0 1
GNA11 1 0 0 0 0 0 0 1
GNAI1 0 1 0 0 0 0 0 1
GPD1L 0 0 0 1 0 0 0 1
GPHN, PALS1 0 0 0 1 0 0 0 1
GPR143 1 0 0 0 0 0 0 1
GREB1L 0 1 0 0 0 0 0 1
GREB1L, LOC101927521 0 0 1 0 0 0 0 1
GRHL3 0 1 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 1
H1-4 1 0 0 0 0 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 0 0 1
HDAC8 1 0 0 0 0 0 0 1
HECW2 0 1 0 0 0 0 0 1
HES7 0 1 0 0 0 0 0 1
HEXA 1 0 0 0 0 0 0 1
HFE 1 0 0 0 0 0 0 1
HIVEP2 1 0 0 0 0 0 0 1
HMBS 0 1 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 0 1
HSD17B10 0 1 0 0 0 0 0 1
HUWE1 1 0 0 0 0 0 0 1
IDS, LOC106050102 0 0 0 1 0 0 0 1
IDUA 1 0 0 0 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 0 0 1
IFT122 0 1 0 0 0 0 0 1
IGF1R 0 1 0 0 0 0 0 1
IGF1R, LOC126862245 0 1 0 0 0 0 0 1
IL1RAPL1 1 0 0 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 0 1
IRAK1BP1, PHIP 1 0 0 0 0 0 0 1
IRF2BPL 0 1 0 0 0 0 0 1
ITPA 1 0 0 0 0 0 0 1
ITPR1 0 1 0 0 0 0 0 1
JAG1 1 0 0 0 0 0 0 1
JAM3 1 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 1
KAT7 0 0 1 0 0 0 0 1
KCNA2 1 0 0 0 0 0 0 1
KCND3 0 1 0 0 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 0 1
KCNH1 1 0 0 0 0 0 0 1
KCNJ2 1 0 0 0 0 0 0 1
KCNN2, LOC101927078 0 1 0 0 0 0 0 1
KCNQ5, KCNQ5-DT 0 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 1
KIAA0586 1 0 0 0 0 0 0 1
KIAA0825 1 0 0 0 0 0 0 1
KIAA0825, LOC126807453 0 1 0 0 0 0 0 1
KIF5A 1 0 0 0 0 0 0 1
KLF7 0 1 0 0 0 0 0 1
KRIT1 1 0 0 0 0 0 0 1
L1CAM 1 0 0 0 0 0 0 1
LAMA2 1 0 0 0 0 0 0 1
LEPR 1 0 0 0 0 0 0 1
LFNG 0 1 0 0 0 0 0 1
LMBRD2 0 1 0 0 0 0 0 1
LMNB1 0 0 0 1 0 0 0 1
LMX1B 0 1 0 0 0 0 0 1
LOC101927055, TTN 0 0 1 0 0 0 0 1
LOC112694753, LOC130066869, LSS 1 0 0 0 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 0 0 1
LOC126806798, ZNF148 0 1 0 0 0 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 0 0 0 1
LOC126807322, TRIO 0 1 0 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 0 1
LOC126860549, PUF60 0 0 1 0 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 0 1
LOC129930245, PPT1 1 0 0 0 0 0 0 1
LOC129930668, PGM1 1 0 0 0 0 0 0 1
LOC129934069, SPR 0 1 0 0 0 0 0 1
LOC129935026, TBR1 0 1 0 0 0 0 0 1
LOC130006765, PTS 1 0 0 0 0 0 0 1
LOC130009363, LOC130009364, SGCG 1 0 0 0 0 0 0 1
LOC130057352, SMAD3 1 0 0 0 0 0 0 1
LOC130065345, PANK2 1 0 0 0 0 0 0 1
LRIG2 0 1 0 0 0 0 0 1
MAB21L1, NBEA 0 1 0 0 0 0 0 1
MAP2K1 0 1 0 0 0 0 0 1
MCCC2 1 0 0 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 0 1
MED12 0 1 0 0 0 0 0 1
MED13 1 0 0 0 0 0 0 1
MED23 0 1 0 0 0 0 0 1
MEF2C 0 1 0 0 0 0 0 1
MITF 0 1 0 0 0 0 0 1
MLH3 0 0 1 0 0 0 0 1
MN1 1 0 0 0 0 0 0 1
MRE11 1 0 0 0 0 0 0 1
MSH6 1 0 0 0 0 0 0 1
MSRB3 0 1 0 0 0 0 0 1
MT-ND1, MT-RNR1 0 0 0 0 0 1 0 1
MT-ND3 0 1 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 0 1
MT-RNR1, MT-TS1 0 0 0 0 0 1 0 1
MTREX 0 0 1 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 1
MYH7 0 1 0 0 0 0 0 1
MYL2 0 1 0 0 0 0 0 1
MYL3 0 0 1 0 0 0 0 1
MYO15A 0 1 0 0 0 0 0 1
MYO6 1 0 0 0 0 0 0 1
MYRF 0 1 0 0 0 0 0 1
MYT1L 0 1 0 0 0 0 0 1
NALCN 1 0 0 0 0 0 0 1
NBEA 0 1 0 0 0 0 0 1
NCSTN 0 1 0 0 0 0 0 1
NDST1 1 0 0 0 0 0 0 1
NEFL 1 0 0 0 0 0 0 1
NEU3 0 0 1 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 0 1
NF2 0 0 1 0 0 0 0 1
NFASC 0 0 1 0 0 0 0 1
NFIB 0 1 0 0 0 0 0 1
NIPAL4 0 1 0 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 0 0 1
NLGN3 0 0 1 0 0 0 0 1
NOG 0 1 0 0 0 0 0 1
NOTCH3 1 0 0 0 0 0 0 1
NPHS1 1 0 0 0 0 0 0 1
NPRL2 0 1 0 0 0 0 0 1
NR5A1 0 1 0 0 0 0 0 1
NRAS 1 0 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 1
NTMT2 0 0 1 0 0 0 0 1
OFD1, TRAPPC2 0 1 0 0 0 0 0 1
OPA1 1 0 0 0 0 0 0 1
OTC 1 0 0 0 0 0 0 1
OTOA 1 0 0 0 0 0 0 1
OTUD6B 0 1 0 0 0 0 0 1
OTUD7A 1 0 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 0 1
PACS2 1 1 0 0 0 0 0 1
PAEP 1 0 0 0 0 0 0 1
PAFAH1B1 0 1 0 0 0 0 0 1
PAK3 0 1 0 0 0 0 0 1
PALB2 1 0 0 0 0 0 0 1
PAX2 1 0 0 0 0 0 0 1
PAX3 0 1 0 0 0 0 0 1
PAX9 0 1 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 1
PCGF2 1 0 0 0 0 0 0 1
PCSK9 0 0 1 0 0 0 0 1
PDCD10 1 0 0 0 0 0 0 1
PDZD9, UQCRC2 1 0 0 0 0 0 0 1
PHF8 0 1 0 0 0 0 0 1
PICALM 0 0 1 0 0 0 0 1
PIEZO2 1 0 0 0 0 0 0 1
PIGA 0 1 0 0 0 0 0 1
PIGQ 0 1 0 0 0 0 0 1
PKD1L1 1 0 0 0 0 0 0 1
PKD1L2 0 0 1 0 0 0 0 1
PLAG1 0 1 0 0 0 0 0 1
PLCB4 0 1 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 1
PNPLA8 0 1 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 0 1
POLA1 0 0 1 0 0 0 0 1
POMGNT2 1 0 0 0 0 0 0 1
POMT1 1 0 0 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 0 1
PPP2R1A 0 1 0 0 0 0 0 1
PPP2R5C 0 1 0 0 0 0 0 1
PQBP1 1 0 0 0 0 0 0 1
PRMT7 0 1 0 0 0 0 0 1
PROC 1 0 0 0 0 0 0 1
PROS1 0 0 1 0 0 0 0 1
PRPF3 0 1 0 0 0 0 0 1
PRPF31 0 1 0 0 0 0 0 1
PRRX1 0 1 0 0 0 0 0 1
PRUNE1 1 0 0 0 0 0 0 1
PSEN1 1 0 0 0 0 0 0 1
PTS 1 0 0 0 0 0 0 1
PYGL 1 0 0 0 0 0 0 1
RAC3 0 1 0 0 0 0 0 1
RAD21 1 0 0 0 0 0 0 1
RAG1 0 1 0 0 0 0 0 1
RALA 0 1 0 0 0 0 0 1
RALGAPB 0 0 1 0 0 0 0 1
RANBP10 0 0 1 0 0 0 0 1
RARB 0 1 0 0 0 0 0 1
RBM20 1 0 0 0 0 0 0 1
REEP1 1 0 0 0 0 0 0 1
RERE 0 1 0 0 0 0 0 1
RHO 0 1 0 0 0 0 0 1
RIT1 1 0 0 0 0 0 0 1
RLIM 1 0 0 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 1
RPGR 1 0 0 0 0 0 0 1
RSPH1 1 0 0 0 0 0 0 1
RUBCN 0 1 0 0 0 0 0 1
SAMD9 0 1 0 0 0 0 0 1
SARS1 0 1 0 0 0 0 0 1
SCARF2 0 1 0 0 0 0 0 1
SCN3B 0 1 0 0 0 0 0 1
SCN8A 0 1 0 0 0 0 0 1
SEC63 1 0 0 0 0 0 0 1
SENP6 0 0 0 1 0 0 0 1
SETD1A 0 0 1 0 0 0 0 1
SETD2 1 0 0 0 0 0 0 1
SGCG 1 0 0 0 0 0 0 1
SHANK3 1 0 0 0 0 0 0 1
SHH 0 1 0 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
SIDT1 0 0 1 0 0 0 0 1
SIN3A 0 1 0 0 0 0 0 1
SLC12A2 0 0 0 1 0 0 0 1
SLC16A1 0 1 0 0 0 0 0 1
SLC26A2 1 0 0 0 0 0 0 1
SLC2A10 1 0 0 0 0 0 0 1
SLC35D1 0 1 0 0 0 0 0 1
SLC5A7 0 1 0 0 0 0 0 1
SMAD4 1 0 0 0 0 0 0 1
SMARCA4 0 1 0 0 0 0 0 1
SMARCB1 0 1 0 0 0 0 0 1
SMC3 0 1 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 1
SNAPC4 0 1 0 0 0 0 0 1
SNTA1 0 0 0 1 0 0 0 1
SON 1 0 0 0 0 0 0 1
SORD 0 1 0 0 0 0 0 1
SOX4 0 0 1 0 0 0 0 1
SOX9 0 1 0 0 0 0 0 1
SPAG9 0 0 1 0 0 0 0 1
SPEN 0 1 0 0 0 0 0 1
SPTAN1 1 0 0 0 0 0 0 1
SPTLC1 0 1 0 0 0 0 0 1
SRCAP 1 0 0 0 0 0 0 1
SSR4 0 1 0 0 0 0 0 1
ST3GAL5 0 1 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 1
STRC 1 0 0 0 0 0 0 1
STX1B 1 0 0 0 0 0 0 1
STXBP1 0 1 0 0 0 0 0 1
SUCLA2 1 0 0 0 0 0 0 1
SYT1 0 0 1 0 0 0 0 1
TAF2 0 1 0 0 0 0 0 1
TAOK2 0 0 1 0 0 0 0 1
TAPBPL 0 0 1 0 0 0 0 1
TBC1D2B 0 1 0 0 0 0 0 1
TBCEL-TECTA, TECTA 0 1 0 0 0 0 0 1
TBL1XR1 0 1 0 0 0 0 0 1
TBX4 0 1 0 0 0 0 0 1
TCF12 1 0 0 0 0 0 0 1
TCF7L2 0 1 0 0 0 0 0 1
TFE3 0 1 0 0 0 0 0 1
TGDS 1 0 0 0 0 0 0 1
THRB 1 0 0 0 0 0 0 1
TLK2 0 1 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 0 1
TNPO2 0 1 0 0 0 0 0 1
TNRC6B 0 0 1 0 0 0 0 1
TOR1A 0 1 0 0 0 0 0 1
TP53 1 0 0 0 0 0 0 1
TPCN2 0 0 1 0 0 0 0 1
TRAPPC9 0 1 0 0 0 0 0 1
TRIM37 0 1 0 0 0 0 0 1
TRIP12 0 1 0 0 0 0 0 1
TRMU 1 0 0 0 0 0 0 1
TRPM1 1 0 0 0 0 0 0 1
TRRAP 1 0 0 0 0 0 0 1
TSC1 0 0 0 0 1 0 0 1
TSPAN7 0 0 0 1 0 0 0 1
TTC21B 1 0 0 0 0 0 0 1
TTC5 0 1 0 0 0 0 0 1
TTPA 1 0 0 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 0 1
TUBB2A 0 1 0 0 0 0 0 1
TWIST1 1 0 0 0 0 0 0 1
UBAP1 1 0 0 0 0 0 0 1
UBE3B 0 1 0 0 0 0 0 1
USB1 0 1 0 0 0 0 0 1
USH2A 1 0 0 0 0 0 0 1
USP9X 1 0 0 0 0 0 0 1
VCP 1 0 0 0 0 0 0 1
VPS13A 0 1 0 0 0 0 0 1
WASHC5 0 1 0 0 0 0 0 1
WBP11 0 1 0 0 0 0 0 1
WDR37 1 0 0 0 0 0 0 1
WDR45 0 1 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 1
WSCD2 0 0 1 0 0 0 0 1
YY1AP1 1 0 0 0 0 0 0 1
ZBTB46 0 0 1 0 0 0 0 1
ZMYM2 1 0 0 0 0 0 0 1
ZNF148 0 1 0 0 0 0 0 1
ZSWIM6 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 722
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
Marfanoid habitus and intellectual disability 0 33 44 0 0 0 0 77
Intellectual disability 15 28 0 0 0 0 0 43
See cases 3 8 7 6 0 0 0 21
Global developmental delay 10 6 0 0 0 0 0 16
KBG syndrome 10 6 0 0 0 0 0 16
Intellectual disability; Neurodevelopmental delay 13 0 2 0 0 0 0 15
Cohen syndrome 6 8 0 0 0 0 0 14
CEBALID syndrome 7 5 0 0 0 0 0 12
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 11 0 0 0 0 0 0 11
Autistic behavior 1 1 8 0 0 0 0 10
Autistic behavior; Moderate global developmental delay 0 10 0 0 0 0 0 10
STAG1-related disorder 0 10 0 0 0 0 0 10
Global developmental delay; Atypical behavior; Delayed speech and language development; Intellectual disability 9 0 0 0 0 0 0 9
Autistic behavior; Severe global developmental delay 0 8 0 0 0 0 0 8
CLOVES syndrome 8 0 0 0 0 0 0 8
Orofaciodigital syndrome I 3 5 0 0 0 0 0 8
Seizure 5 3 0 0 0 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 2 5 2 0 0 0 0 0 7
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 6 0 0 0 0 0 7
Intellectual developmental disorder, autosomal dominant 64 1 2 3 1 0 0 0 7
Intellectual disability, X-linked 102 1 6 0 0 0 0 0 7
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 3 4 0 0 0 0 0 7
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 3 4 0 0 0 0 0 7
Primrose syndrome 7 0 0 0 0 0 0 7
Rubinstein-Taybi syndrome due to CREBBP mutations 2 5 0 0 0 0 0 7
Bohring-Opitz syndrome 2 4 0 0 0 0 0 6
Bosch-Boonstra-Schaaf optic atrophy syndrome 2 4 0 0 0 0 0 6
Cornelia de Lange syndrome 1 4 2 0 0 0 0 0 6
DYRK1A-related intellectual disability syndrome 2 3 1 0 0 0 0 6
Developmental and epileptic encephalopathy, 11 3 3 0 0 0 0 0 6
Early-onset myopathy with fatal cardiomyopathy 0 2 4 0 0 0 0 6
Encephalopathy 3 3 0 0 0 0 0 6
Kabuki syndrome 1 5 1 0 0 0 0 0 6
Kleefstra syndrome 1 4 2 0 0 0 0 0 6
Long QT syndrome 3 1 2 1 0 2 0 0 6
Marfan syndrome 3 2 0 1 0 0 0 6
Microcephaly 2 4 0 0 0 0 0 6
Primary ciliary dyskinesia 7 4 0 2 0 0 0 0 6
Rett syndrome 4 2 0 0 0 0 0 6
Sotos syndrome 3 3 0 0 0 0 0 6
Syndromic X-linked intellectual disability Claes-Jensen type 1 5 0 0 0 0 0 6
Baraitser-Winter syndrome 1 3 2 0 0 0 0 0 5
Cystic fibrosis 5 0 0 0 0 0 0 5
Epileptic encephalopathy 2 3 0 0 0 0 0 5
Hearing impairment 5 0 0 0 0 0 0 5
Intellectual disability, autosomal dominant 14 2 3 0 0 0 0 0 5
Intellectual disability, autosomal dominant 5 3 1 1 0 0 0 0 5
Left ventricular noncompaction 10 1 0 4 0 0 0 0 5
Microcephalic primordial dwarfism, Alazami type 3 2 0 0 0 0 0 5
Noonan syndrome 1 5 0 0 0 0 0 0 5
Renal cyst 3 2 0 0 0 0 0 5
Smith-Lemli-Opitz syndrome 2 3 0 0 0 0 0 5
Wiedemann-Steiner syndrome 2 3 0 0 0 0 0 5
8q24.3 microdeletion syndrome 1 2 1 0 0 0 0 4
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 1 0 0 0 0 0 4
Alopecia-intellectual disability syndrome 4 3 1 0 0 0 0 0 4
Alstrom syndrome 4 0 0 0 0 0 0 4
Arrhythmogenic right ventricular dysplasia 10 1 0 2 1 0 0 0 4
Asphyxiating thoracic dystrophy 3 2 2 0 0 0 0 0 4
Autosomal recessive ataxia due to ubiquinone deficiency 0 2 2 0 0 0 0 4
Autosomal recessive polycystic kidney disease 0 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease type 4C 0 3 1 0 0 0 0 4
Coffin-Siris syndrome 1 2 2 0 0 0 0 0 4
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 2 0 0 0 0 0 4
Deficiency of alpha-mannosidase 2 2 0 0 0 0 0 4
Developmental and epileptic encephalopathy, 26 2 2 0 0 0 0 0 4
Intellectual disability, autosomal dominant 13 0 4 0 0 0 0 0 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 3 0 0 0 0 0 4
Long QT syndrome 1 1 3 0 0 0 0 0 4
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 0 0 3 0 1 0 0 4
Neonatal-onset encephalopathy with rigidity and seizures 4 0 0 0 0 0 0 4
Neurodevelopmental abnormality 1 3 0 0 0 0 0 4
O'Donnell-Luria-Rodan syndrome 3 0 1 0 0 0 0 4
Phenylketonuria 3 1 0 0 0 0 0 4
Pitt-Hopkins syndrome 1 3 0 0 0 0 0 4
Polycystic kidney disease, adult type 4 0 0 0 0 0 0 4
Rett syndrome, congenital variant 3 1 0 0 0 0 0 4
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 3 0 0 0 0 0 4
Van der Woude syndrome 1 2 2 0 0 0 0 0 4
Abnormal brain morphology 2 1 0 0 0 0 0 3
Autism spectrum disorder due to AUTS2 deficiency 2 1 0 0 0 0 0 3
Autosomal recessive cutis laxa type 2B 2 1 0 0 0 0 0 3
Beck-Fahrner syndrome 0 2 0 1 0 0 0 3
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 2 0 0 0 0 0 3
Borjeson-Forssman-Lehmann syndrome 2 1 0 0 0 0 0 3
CHARGE association 3 0 0 0 0 0 0 3
Cardiofaciocutaneous syndrome 1 2 1 0 0 0 0 0 3
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 2 0 0 0 3
Chromosome 2q32-q33 deletion syndrome 2 1 0 0 0 0 0 3
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 3 0 0 0 0 0 3
Complex cortical dysplasia with other brain malformations 1 1 2 0 0 0 0 0 3
Complex cortical dysplasia with other brain malformations 6 2 1 0 0 0 0 0 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 2 0 0 0 0 0 3
Creatine transporter deficiency 2 1 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 25 2 1 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 7 3 0 0 0 0 0 0 3
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 2 0 0 0 0 0 3
Dias-Logan syndrome 1 2 0 0 0 0 0 3
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 1 1 0 1 0 0 0 3
Fetal cystic hygroma 3 0 0 0 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 4 3 0 0 0 0 0 0 3
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 2 0 0 0 0 0 3
Lamb-Shaffer syndrome 2 1 0 0 0 0 0 3
Leber optic atrophy 2 0 0 0 0 0 1 3
Macrocephaly 1 2 0 0 0 0 0 3
Neonatal respiratory distress 0 3 0 0 0 0 0 3
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 1 2 0 0 0 0 3
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 1 0 0 0 0 3
Neurodevelopmental disorder with or without autism or seizures 0 0 3 0 0 0 0 3
Neuronal ceroid lipofuscinosis 1 2 1 0 0 0 0 0 3
Noonan syndrome 1; LEOPARD syndrome 1 3 0 0 0 0 0 0 3
Noonan syndrome 4 3 0 0 0 0 0 0 3
Okur-Chung neurodevelopmental syndrome 2 1 0 0 0 0 0 3
PGM1-congenital disorder of glycosylation 3 0 0 0 0 0 0 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 2 0 0 0 0 0 3
PIK3CA related overgrowth syndrome 3 0 0 0 0 0 0 3
Paragangliomas 4 0 0 2 0 1 0 0 3
Rothmund-Thomson syndrome 1 2 0 0 0 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 2 0 0