ClinVar Miner

Variants from Centre for Mendelian Genomics,University Medical Centre Ljubljana

Location: Slovenia — Primary collection method: clinical testing
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 risk factor total
353 315 342 11 1 2 1012

Gene and significance breakdown #

Total genes and gene combinations: 558
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
NF1 14 8 3 0 0 0 25
RYR1 2 7 9 0 0 0 18
PKD1 7 6 4 0 0 0 17
TTN 3 3 10 1 0 0 16
FBN1 8 6 2 0 0 0 15
DMD 5 4 1 0 0 0 10
DYNC1H1 0 4 4 1 0 0 9
ABCA4 3 2 4 0 0 0 8
CEP290 6 1 1 0 0 0 8
CLCN1 3 5 0 0 0 0 8
COL7A1 4 2 2 0 0 0 8
DSP 1 2 5 0 0 0 8
MYH7 1 3 4 0 0 0 8
COL4A5 4 1 2 0 0 0 7
PKHD1 6 0 1 0 0 0 7
TYR 4 3 0 0 0 0 7
GJB2 4 1 1 0 0 0 6
SPAST 5 1 0 0 0 0 6
BRCA1 4 0 1 0 0 0 5
BRCA2 1 0 3 1 0 0 5
FGFR3 5 0 0 0 0 0 5
MECP2 4 1 0 0 0 0 5
PKD2 4 0 1 0 0 0 5
TSC1 3 1 1 0 0 0 5
USH2A 2 1 2 0 0 0 5
ACO2 0 0 4 0 0 0 4
ANO5 2 2 1 0 0 0 4
ATP1A3 3 1 0 0 0 0 4
COL1A1 3 1 0 0 0 0 4
COL2A1 2 2 0 0 0 0 4
COL4A4 0 2 2 0 0 0 4
COL5A1 0 2 2 0 0 0 4
FLNA 2 2 0 0 0 0 4
GBA, LOC106627981 0 1 1 0 0 2 4
GRIN2B 1 3 0 0 0 0 4
KIF1B 0 0 4 0 0 0 4
MKS1 3 0 1 0 0 0 4
NPC1 2 2 0 0 0 0 4
PTPN11 3 0 1 0 0 0 4
SYNGAP1 0 4 0 0 0 0 4
TMEM67 1 3 0 0 0 0 4
ABCC8 0 3 0 0 0 0 3
ALOX12B 3 0 0 0 0 0 3
ANKRD11 0 1 2 0 0 0 3
ARID1B 1 1 1 0 0 0 3
ATP7B 0 2 1 0 0 0 3
BRIP1 0 0 3 0 0 0 3
CACNA1A 0 3 0 0 0 0 3
CAPN3 2 1 0 0 0 0 3
CERKL 2 1 0 0 0 0 3
CHAT 2 0 1 0 0 0 3
CHD7 2 1 0 0 0 0 3
CNGA3 0 3 0 0 0 0 3
CPLANE1 3 0 0 0 0 0 3
CREBBP 0 3 0 0 0 0 3
DNM2 1 1 1 0 0 0 3
DYNC2H1 2 0 1 0 0 0 3
ELN 1 0 2 0 0 0 3
EP300 0 0 2 1 0 0 3
G6PC 3 0 0 0 0 0 3
HDAC8 2 1 0 0 0 0 3
HMBS 2 1 0 0 0 0 3
MRE11 0 0 3 0 0 0 3
MYBPC3 1 1 1 0 0 0 3
MYH6 0 0 3 0 0 0 3
MYO15A 1 1 1 0 0 0 3
NDP 0 3 0 0 0 0 3
NIPBL 1 2 0 0 0 0 3
NOTCH3 1 2 0 0 0 0 3
PALB2 1 0 2 0 0 0 3
PIK3CA 1 0 2 0 0 0 3
PNPLA6 0 2 2 0 0 0 3
RPS6KA3 1 1 1 0 0 0 3
SCN1A, SCN9A 1 0 2 0 0 0 3
SCN5A 0 2 1 0 0 0 3
SLC26A4 0 2 1 0 0 0 3
SLC2A1 1 1 1 0 0 0 3
SMC1A 1 0 2 0 0 0 3
SPG7 2 1 0 0 0 0 3
STK11 0 1 2 0 0 0 3
STXBP1 3 0 0 0 0 0 3
TSC2 2 1 0 0 0 0 3
ZNF469 0 0 3 0 0 0 3
ABCD1 0 2 0 0 0 0 2
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 2 0 0 0 0 0 2
ACADVL 0 2 0 0 0 0 2
ACTA2 1 0 1 0 0 0 2
ACVRL1 1 0 1 0 0 0 2
ADSL 2 0 0 0 0 0 2
AIFM1, RAB33A 0 2 0 0 0 0 2
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 2 0 0 0 0 0 2
ALDH7A1 2 0 0 0 0 0 2
ALS2 0 2 0 0 0 0 2
AMN 1 0 1 0 0 0 2
APC 2 0 0 0 0 0 2
BARD1 0 0 2 0 0 0 2
BRAF 0 2 0 0 0 0 2
C19orf12 2 0 0 0 0 0 2
CASK 0 2 0 0 0 0 2
CC2D2A 2 0 0 0 0 0 2
CCM2 1 0 1 0 0 0 2
CDKL5 1 1 0 0 0 0 2
CDKN2A 1 0 1 0 0 0 2
CHRND 0 2 0 0 0 0 2
CLCNKB, LOC106501713 0 1 1 0 0 0 2
COL11A2 0 1 1 0 0 0 2
COL18A1, SLC19A1 0 2 0 0 0 0 2
COL3A1 1 1 0 0 0 0 2
COL4A2 0 0 2 0 0 0 2
COL4A3, LOC654841 1 1 1 0 0 0 2
COL5A1, LOC101448202 0 1 1 0 0 0 2
COL6A1 1 1 0 0 0 0 2
COL6A2 1 1 0 0 0 0 2
CPT2 0 1 1 0 0 0 2
CYP4F22 0 0 2 0 0 0 2
DARS2 2 0 0 0 0 0 2
DGUOK 0 0 2 0 0 0 2
DHCR7 1 1 0 0 0 0 2
DNAH9 0 0 2 0 0 0 2
DNMT1 0 0 2 0 0 0 2
DSG1 0 2 0 0 0 0 2
DTNA 0 1 1 0 0 0 2
DYSF 1 0 1 0 0 0 2
EHMT1 1 1 0 0 0 0 2
EPM2A 0 0 2 0 0 0 2
ERCC2 0 1 1 0 0 0 2
EYS 0 0 2 0 0 0 2
FECH 0 0 1 1 0 0 2
FLG 1 0 1 0 0 0 2
FSHR 1 0 1 0 0 0 2
GALC 0 2 0 0 0 0 2
GJA1 1 1 0 0 0 0 2
GJB1 0 2 0 0 0 0 2
GLI2 0 0 1 1 0 0 2
GUCY2D 0 1 1 0 0 0 2
IGHMBP2 0 2 0 0 0 0 2
INF2 0 1 1 0 0 0 2
ITGB3 0 2 0 0 0 0 2
KAT6B 0 1 1 0 0 0 2
KCNA5 0 0 2 0 0 0 2
KCNH2 0 1 1 0 0 0 2
KCNQ2 1 1 0 0 0 0 2
KMT2D 0 1 1 0 0 0 2
KRIT1 1 1 0 0 0 0 2
LAMA2 1 0 1 0 0 0 2
MCOLN1 0 2 0 0 0 0 2
MED12 1 1 0 0 0 0 2
MEN1 2 0 0 0 0 0 2
MFN2 1 1 0 0 0 0 2
MHRT, MYH7 0 1 1 0 0 0 2
MITF 1 1 0 0 0 0 2
MLH3 0 0 2 0 0 0 2
MPZ 0 2 0 0 0 0 2
MT-ND4 0 0 2 0 0 0 2
MT-ND6 0 1 1 0 0 0 2
MUSK 0 2 0 0 0 0 2
MYH14 0 0 2 0 0 0 2
NAGLU 2 0 0 0 0 0 2
NDUFAF6 0 1 1 0 0 0 2
NEB 0 0 2 0 0 0 2
NEB, RIF1 0 1 1 0 0 0 2
NPR2 0 2 0 0 0 0 2
NSDHL 0 0 2 0 0 0 2
OPA1 0 0 2 0 0 0 2
OTC 1 0 1 0 0 0 2
OTOF 1 1 0 0 0 0 2
PANK2 2 0 0 0 0 0 2
PCCB 0 0 2 0 0 0 2
PHGDH 0 2 0 0 0 0 2
PIGL 0 0 2 0 0 0 2
PLOD1 2 0 0 0 0 0 2
PLOD2 0 2 0 0 0 0 2
POGZ 1 1 0 0 0 0 2
POLG 2 0 0 0 0 0 2
POMT1 0 0 2 0 0 0 2
PPOX 2 0 0 0 0 0 2
PRKAG2 0 0 2 0 0 0 2
PRMT7 2 0 0 0 0 0 2
PSEN1 1 1 0 0 0 0 2
RAPSN 0 2 0 0 0 0 2
RB1 2 0 0 0 0 0 2
RHO 2 0 0 0 0 0 2
SATB2 1 1 0 0 0 0 2
SBDS 1 1 0 0 0 0 2
SCN1A 0 1 1 0 0 0 2
SCN8A 0 1 1 0 0 0 2
SETBP1 0 1 1 0 0 0 2
SLC12A3 1 0 1 0 0 0 2
SLC25A24 2 0 0 0 0 0 2
SMARCAL1 2 0 0 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 2
SNRNP200 0 0 2 0 0 0 2
SOS1 2 0 0 0 0 0 2
SOX5 0 2 0 0 0 0 2
SPG11 0 2 0 0 0 0 2
SPINK5 0 2 0 0 0 0 2
SURF1 1 1 0 0 0 0 2
TCF4 2 0 0 0 0 0 2
TECTA 0 0 2 0 0 0 2
TNXB 0 0 2 0 0 0 2
TOPORS 0 0 2 0 0 0 2
TRPS1 0 2 0 0 0 0 2
VPS13B 2 0 0 0 0 0 2
WWOX 0 2 0 0 0 0 2
AAAS 1 0 0 0 0 0 1
AAGAB 0 1 0 0 0 0 1
AARS1 0 0 1 0 0 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL4L1, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
ABCA1, ABCA2, ABHD17B, ABITRAM, ABL1, ABO, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL2, ADGRD2, AGPAT2, AGTPBP1, AIF1L, AJM1, AK1, AK8, AKAP2, AKNA, ALAD, ALDH1A1, ALDOB, ALG2, AMBP, ANAPC2, ANGPTL2, ANKS6, ANP32B, ANXA1, AOPEP, APBA1, ARPC5L, ARRDC1, ASB6, ASPN, ASS1, ASTN2, ATP6V1G1, AUH, BAAT, BANCR, BARHL1, BARX1, BICD2, BRD3, BRINP1, BSPRY, C5, C8G, C9orf106, C9orf116, C9orf129, C9orf135, C9orf139, C9orf152, C9orf153, C9orf16, C9orf163, C9orf170, C9orf40, C9orf43, C9orf47, C9orf50, C9orf57, C9orf62, C9orf64, C9orf78, C9orf85, CACFD1, CACNA1B, CAMSAP1, CARD19, CARD9, CARNMT1, CAVIN4, CCDC180, CCDC183, CDC14B, CDC26, CDK20, CDK5RAP2, CDK9, CEL, CEMIP2, CENPP, CEP78, CERCAM, CFAP157, CFAP77, CIZ1, CKS2, CLIC3, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSL, CTSV, CYLC2, CYSRT1, DAB2IP, DAPK1, DAPK1-IT1, DBH, DDX31, DEC1, DENND1A, DIPK1B, DIRAS2, DNAJC25, DNAJC25-GNG10, DNLZ, DNM1, DOLK, DOLPP1, DPH7, DPM2, DPP7, ECM2, ECPAS, EDF1, EGFL7, EHMT1, ELP1, ENDOG, ENG, ENTPD2, ENTPD8, ENTR1, EPB41L4B, ERCC6L2, ERP44, EXD3, EXOSC2, FAM102A, FAM120A, FAM120AOS, FAM122A, FAM163B, FAM166A, FAM189A2, FAM78A, FANCC, FBP1, FBP2, FBXW2, FBXW5, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOXB2, FOXE1, FPGS, FRMD3, FRRS1L, FSD1L, FUBP3, FUT7, FXN, GABBR2, GADD45G, GALNT12, GAPVD1, GARNL3, GAS1, GBGT1, GCNT1, GDA, GFI1B, GKAP1, GLE1, GLT6D1, GNA14, GNAQ, GNG10, GOLGA1, GOLGA2, GOLM1, GPR107, GPR21, GPSM1, GRIN1, GRIN3A, GSN, GTF3C4, GTF3C5, HABP4, HDHD3, HEMGN, HMCN2, HNRNPK, HSD17B3, HSDL2, HSPA5, IARS1, IDNK, IER5L, INIP, INPP5E, INVS, IPPK, ISCA1, KCNT1, KIAA1958, KIF12, KIF27, KLF4, KLF9, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN2, LCN6, LCN8, LCN9, LCNL1, LHX2, LHX3, LHX6, LMX1B, LOC651337, LPAR1, LRRC26, LRRC8A, LRSAM1, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MED22, MED27, MEGF9, MFSD14B, MIGA2, MIR126, MIR181A2, MIR181A2HG, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR2861, MIR32, MIR7-1, MIRLET7A1, MIRLET7D, MIRLET7F1, MORN5, MRPL41, MRPL50, MRPS2, MRRF, MSANTD3, MSANTD3-TMEFF1, MUSK, MVB12B, MYMK, NAA35, NACC2, NAIF1, NANS, NCBP1, NCS1, NDOR1, NDUFA8, NEK6, NELFB, NFIL3, NIBAN2, NINJ1, NIPSNAP3A, NIPSNAP3B, NMRK1, NOL8, NOTCH1, NOXA1, NPDC1, NR4A3, NR5A1, NR6A1, NRARP, NRON, NSMF, NTMT1, NTNG2, NTRK2, NUP188, NUP214, NUTM2F, NUTM2G, NXNL2, OBP2A, OBP2B, ODF2, OGN, OLFM1, OLFML2A, OMD, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR1B1, OR1J1, OR1J2, OR1J4, OR1K1, OR1L1, OR1L3, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR5C1, ORM1, ORM2, OSTF1, PAEP, PALM2, PALM2AKAP2, PAPPA, PAXX, PBX3, PCA3, PCSK5, PDCL, PGM5, PHF19, PHF2, PHPT1, PHYHD1, PIP5K1B, PIP5KL1, PKN3, PLPP7, PMPCA, PNPLA7, POLE3, POMT1, PPP1R26, PPP3R2, PPP6C, PRDM12, PRKACG, PRPF4, PRRC2B, PRRX2, PRSS47, PRUNE2, PRXL2C, PSAT1, PSMB7, PSMD5, PTAR1, PTBP3, PTCH1, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPA, PTPDC1, PTPN3, PTRH1, QRFP, QSOX2, RAB14, RABEPK, RABGAP1, RABL6, RAD23B, RALGDS, RALGPS1, RAPGEF1, RASEF, RBM18, RC3H2, REXO4, RFK, RGS3, RMI1, RNF183, RNF20, RNF208, RNF224, RNU6ATAC, ROR2, RORB, RPL12, RPL35, RPL7A, RXRA, S1PR3, SAPCD2, SARDH, SCAI, SEC16A, SEC61B, SECISBP2, SEMA4D, SET, SETX, SH2D3C, SH3GLB2, SHC3, SHOC1, SLC25A25, SLC27A4, SLC28A3, SLC2A6, SLC2A8, SLC31A1, SLC31A2, SLC34A3, SLC35D2, SLC44A1, SLC46A2, SMC2, SMC5, SNAPC4, SNHG7, SNX30, SOHLH1, SPACA9, SPATA31C1, SPATA31C2, SPATA31D1, SPATA31D3, SPATA31D4, SPATA31E1, SPIN1, SPOUT1, SPTAN1, SPTLC1, SSNA1, ST6GALNAC4, ST6GALNAC6, STKLD1, STOM, STPG3, STRBP, STX17, STXBP1, SURF1, SURF2, SURF4, SURF6, SUSD1, SUSD3, SVEP1, SWI5, SYK, TAL2, TBC1D13, TBC1D2, TDRD7, TEX10, TGFBR1, TJP2, TLE1, TLE4, TLR4, TMC1, TMEFF1, TMEM141, TMEM203, TMEM210, TMEM245, TMEM246, TMEM250, TMEM252, TMEM268, TMEM38B, TMOD1, TNC, TNFSF15, TNFSF8, TOR1A, TOR1B, TOR2A, TOR4A, TPRN, TRAF1, TRAF2, TRIM14, TRIM32, TRMO, TRPM3, TRPM6, TRUB2, TSC1, TSTD2, TTC16, TTF1, TTLL11, TTLL11-IT1, TUBB4B, TUT7, TXN, TXNDC8, UAP1L1, UBAC1, UBQLN1, UCK1, UGCG, URM1, USP20, VAV2, VPS13A, WDR31, WDR34, WDR38, WDR5, WHRN, WNK2, XPA, ZBTB26, ZBTB34, ZBTB43, ZBTB6, ZDHHC12, ZER1, ZFAND5, ZFP37, ZMYND19, ZNF169, ZNF189, ZNF367, ZNF462, ZNF483, ZNF484, ZNF510, ZNF618, ZNF782, ZNF79, ZNF883 0 1 0 0 0 0 1
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BTBD2, C19orf25, C2CD4C, CBARP, CDC34, CFD, CIRBP, CNN2, CSNK1G2, DAZAP1, DIRAS1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNA11, GNA15, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINGO3, LMNB2, LSM7, MADCAM1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1909, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RPS15, SBNO2, SCAMP4, SF3A2, SGTA, SHC2, SLC39A3, SPPL2B, STK11, TCF3, THEG, THOP1, TIMM13, TLE2, TLE5, TLE6, TMEM259, TMPRSS9, TPGS1, UQCR11, WDR18, ZNF554, ZNF555, ZNF556, ZNF77 0 1 0 0 0 0 1
ABCB11 1 0 0 0 0 0 1
ABCC6 1 0 0 0 0 0 1
ABITRAM, ACTL7A, CTNNAL1, ELP1, MIR32, TMEM245 0 0 1 0 0 0 1
ACAP3, ACTRT2, AGRN, AJAP1, 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, KCNAB2, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NPHP4, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 1
ACTN2 0 0 1 0 0 0 1
ADAM28, ADAM7, ADAMDEC1, ASAH1, ATP6V1B2, BIN3, BMP1, C8orf48, C8orf58, CCAR2, CDCA2, CHMP7, CNOT7, CSGALNACT1, DLC1, DMTN, DOCK5, DOK2, EBF2, EGR3, ENTPD4, FAM160B2, FGF17, FGF20, FGL1, GFRA2, GNRH1, HR, INTS10, KCTD9, LGI3, LOC101929066, LONRF1, LOXL2, LPL, LZTS1, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, PSD3, R3HCC1, REEP4, RHOBTB2, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRMT9B, TUSC3, VPS37A, XPO7, ZDHHC2 1 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 1
ADARB2, GTPBP4, IDI1, IDI2, LARP4B, WDR37 0 0 1 0 0 0 1
ADCK5, ADGRB1, ARC, ARHGAP39, BOP1, C8orf31, C8orf33, C8orf82, CCDC166, COMMD5, CPSF1, CYC1, CYHR1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, JRK, KIFC2, LRRC14, LRRC24, LY6D, LY6E, LY6H, LY6K, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PSCA, PUF60, PYCR3, RECQL4, RHPN1, RPL8, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, THEM6, TIGD5, TMEM249, TONSL, TOP1MT, TSNARE1, TSTA3, VPS28, ZC3H3, ZFP41, ZNF16, ZNF250, ZNF251, ZNF34, ZNF517, ZNF623, ZNF696, ZNF7, ZNF707 1 0 0 0 0 0 1
ADCY5 0 0 1 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 1
ADGRV1 0 0 1 0 0 0 1
ADIPOQ, AHSG, BCL6, C3orf70, CRYGS, DGKG, DNAJB11, EHHADH, EIF4A2, EPHB3, ETV5, FETUB, HRG, IGF2BP2, KNG1, LIPH, LPP, MAGEF1, MAP3K13, MASP1, RFC4, RPL39L, RTP1, RTP2, RTP4, SENP2, SNORA63, SNORA81, SST, ST6GAL1, TBCCD1, TMEM41A, TRA2B, VPS8 1 0 0 0 0 0 1
ADNP 0 1 0 0 0 0 1
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 1
AFF2 0 0 1 0 0 0 1
AGBL4, DMRTA2, ELAVL4, FAF1 0 0 1 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA4, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, XKR5, ZNF596 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, ZNF596 1 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 0 1 0 0 0 1
AKT3 0 1 0 0 0 0 1
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 0 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALG13 0 0 1 0 0 0 1
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A 1 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 1 0 0 0 1
AMER1 0 0 1 0 0 0 1
ANK1 0 0 1 0 0 0 1
AR 1 0 0 0 0 0 1
AR, LOC109504725 1 0 0 0 0 0 1
ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8J, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAZ, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ARID1A 0 1 0 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 0 0 1
ARL8B, BHLHE40, CHL1, CNTN4, CNTN6, CRBN, EDEM1, EGOT, IL5RA, ITPR1, LRRN1, SETMAR, SUMF1, TRNT1 0 1 0 0 0 0 1
ARMCX5-GPRASP2, GPRASP1 0 0 1 0 0 0 1
ARSA 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 0 0 1 0 0 0 1
ARX 0 1 0 0 0 0 1
ASPA, CLUH, LOC100288728, METTL16, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3 1 0 0 0 0 0 1
ASTN2, TRIM32 1 0 0 0 0 0 1
ASXL1 1 0 0 0 0 0 1
ATF3, AVPR1B, C1orf116, C1orf147, C1orf74, C4BPA, C4BPB, CAMK1G, CD34, CD46, CD55, CDK18, CNTN2, CR1, CR1L, CR2, CTSE, DSTYK, DTL, DYRK3, EIF2D, ELK4, FAM71A, FAM72A, FCAMR, FCMR, G0S2, HHAT, HSD11B1, IKBKE, IL10, IL19, IL20, IL24, INTS7, IRF6, KCNH1, KLHDC8A, LAMB3, LEMD1, LPGAT1, MAPKAPK2, MFSD4A, MIR205, MIR205HG, MIR29B2CHG, MIR29C, NEK2, NENF, NFASC, NUAK2, NUCKS1, PACC1, PFKFB2, PIGR, PLXNA2, PM20D1, PPP2R5A, RAB29, RASSF5, RBBP5, RCOR3, RD3, RHEX, SERTAD4, SLC26A9, SLC30A1, SLC41A1, SLC45A3, SRGAP2, SYT14, TMCC2, TMEM81, TRAF3IP3, TRAF5, UTP25, YOD1 1 0 0 0 0 0 1
ATL1 1 0 0 0 0 0 1
ATM 1 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 1
ATP2A1, CD19, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1 1 0 0 0 0 0 1
ATRX 0 1 0 0 0 0 1
AUTS2 0 0 1 0 0 0 1
B3GNT2, CCT4, COMMD1, FAM161A, TMEM17, USP34, XPO1 0 0 1 0 0 0 1
BBS10 1 0 0 0 0 0 1
BBS12 1 0 0 0 0 0 1
BCAP31 0 0 1 0 0 0 1
BCL11A, C2orf74, CCT4, COMMD1, FAM161A, KIAA1841, PAPOLG, PEX13, PUS10, REL, USP34, XPO1 0 1 0 0 0 0 1
BCOR 0 0 1 0 0 0 1
BCS1L 0 0 1 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 0 1
BMPR1A 0 0 1 0 0 0 1
BMPR2 0 0 1 0 0 0 1
BTD 0 0 1 0 0 0 1
C5orf17, CDH10, CDH12, PRDM9 0 0 1 0 0 0 1
CACNA1F 0 1 0 0 0 0 1
CACNA1H 0 0 1 0 0 0 1
CAPN3, SGCB 1 0 0 0 0 0 1
CASR 0 1 0 0 0 0 1
CASTOR3, STAG3 0 1 0 0 0 0 1
CDH1 0 0 1 0 0 0 1
CDHR1 0 0 1 0 0 0 1
CDK11B 0 0 1 0 0 0 1
CDK14, FZD1 0 0 1 0 0 0 1
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CEP128, TSHR 1 0 0 0 0 0 1
CFTR 1 1 0 0 0 0 1
CHD2 0 0 0 1 0 0 1
CHEK2 0 0 1 0 0 0 1
CHKB, CHKB-CPT1B 0 0 1 0 0 0 1
CHM 0 1 0 0 0 0 1
CIZ1, DNM1 0 1 0 0 0 0 1
CLCN2 0 0 1 0 0 0 1
CLCN5 0 1 0 0 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CNTNAP2 0 0 0 1 0 0 1
COL11A1 0 1 0 0 0 0 1
COL12A1 0 0 1 0 0 0 1
COL18A1 0 1 0 0 0 0 1
COL1A2 1 0 0 0 0 0 1
COL5A2 0 1 0 0 0 0 1
CRACR2A, PARP11, PRMT8, TSPAN9 0 0 1 0 0 0 1
CSF1R, LOC111188154 0 0 1 0 0 0 1
CSMD3 0 0 0 0 1 0 1
CSTB 1 0 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 1
CTRC 0 1 0 0 0 0 1
CUL4B 1 0 0 0 0 0 1
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 1
CYP24A1 1 0 0 0 0 0 1
DAG1 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
DEAF1 0 0 0 1 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 1
DLX3 0 1 0 0 0 0 1
DNAJB6 0 0 1 0 0 0 1
DPH1, HIC1, INPP5K, METTL16, MIR132, MIR212, MIR22, MNT, MYO1C, OVCA2, PAFAH1B1, PITPNA, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TLCD2, TSR1, WDR81 1 0 0 0 0 0 1
DPM3 0 1 0 0 0 0 1
DSC2 0 0 1 0 0 0 1
DSG2 1 0 0 0 0 0 1
DSPP 0 0 1 0 0 0 1
DUPD1, KAT6B 0 1 0 0 0 0 1
EARS2 1 0 0 0 0 0 1
EDA 1 0 0 0 0 0 1
EDN3 0 0 1 0 0 0 1
EFEMP1 0 1 0 0 0 0 1
EFNB1 1 0 0 0 0 0 1
EFTUD2 0 1 0 0 0 0 1
EIF2B5 0 0 1 0 0 0 1
EMD 1 0 0 0 0 0 1
EMD, FLNA 1 0 0 0 0 0 1
EMILIN2, LPIN2, METTL4, MYL12A, MYL12B, MYOM1, NDC80, SMCHD1, TGIF1 0 0 1 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 0 1
ENTPD1 0 0 1 0 0 0 1
EPHA5 0 0 1 0 0 0 1
ERCC6 0 1 0 0 0 0 1
ESPN 0 0 1 0 0 0 1
ESRRG, GPATCH2, RRP15, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
F12, SLC34A1 1 0 0 0 0 0 1
FAS 0 1 0 0 0 0 1
FBP1 0 0 1 0 0 0 1
FGFR2 0 1 0 0 0 0 1
FH 0 1 0 0 0 0 1
FKBP14 1 0 0 0 0 0 1
FKRP 1 0 0 0 0 0 1
FLVCR2 0 0 1 0 0 0 1
FMR1 0 1 0 0 0 0 1
FOLR1 0 1 0 0 0 0 1
FOXF1 0 1 0 0 0 0 1
FOXG1 0 1 0 0 0 0 1
FOXP1 0 1 0 0 0 0 1
FREM2 1 0 0 0 0 0 1
FUS 0 0 1 0 0 0 1
G6PD 0 0 1 0 0 0 1
GAA 1 0 0 0 0 0 1
GATA2 0 0 1 0 0 0 1
GATA4 0 0 1 0 0 0 1
GCH1 0 1 0 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 1
GDAP1 1 0 0 0 0 0 1
GDF3 0 0 0 1 0 0 1
GFAP 0 1 0 0 0 0 1
GFOD1, MCUR1, NOL7, PHACTR1, RANBP9, RNF182, SIRT5, TBC1D7 0 0 1 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 0 1
GHR 1 0 0 0 0 0 1
GK 0 0 1 0 0 0 1
GLDN 0 1 0 0 0 0 1
GLMN 1 0 0 0 0 0 1
GNAS 1 0 0 0 0 0 1
GNPTAB 0 1 0 0 0 0 1
GPR143 0 1 0 0 0 0 1
GRIN1 0 0 1 0 0 0 1
GSDME 0 0 1 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HERC2 1 0 0 0 0 0 1
HFE 0 0 1 0 0 0 1
HNRNPU 0 0 1 0 0 0 1
HOXD13 1 0 0 0 0 0 1
HUWE1 0 0 1 0 0 0 1
IFIH1 0 1 0 0 0 0 1
ILDR1 0 1 0 0 0 0 1
IMPDH1 0 1 0 0 0 0 1
IRF6 1 0 0 0 0 0 1
IRX4 0 0 1 0 0 0 1
ITPR1 0 0 1 0 0 0 1
KCNB1 0 1 0 0 0 0 1
KCNE3 0 0 1 0 0 0 1
KCNJ11 0 1 0 0 0 0 1
KCNMA1 0 0 1 0 0 0 1
KCNQ1 0 0 1 0 0 0 1
KIF1A 0 1 0 0 0 0 1
KIF4A 0 0 1 0 0 0 1
KIF7 0 1 0 0 0 0 1
KIRREL3 0 0 1 0 0 0 1
KLF11 0 0 1 0 0 0 1
KRT1 0 0 1 0 0 0 1
KRT14 1 0 0 0 0 0 1
KRT17 1 0 0 0 0 0 1
KRT9 0 1 0 0 0 0 1
LBR 0 1 0 0 0 0 1
LGI1 0 0 1 0 0 0 1
LMBR1, MNX1, NOM1 0 0 1 0 0 0 1
LMBR1, RNF32 0 0 1 0 0 0 1
LMNA 0 1 0 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 0 1
LOC105371049, PKD1 0 1 0 0 0 0 1
LOC107303339, VHL 1 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 1
LRRC38, PDPN 0 0 1 0 0 0 1
LRRK2 0 0 1 0 0 0 1
LURAP1L, TYRP1 0 1 0 0 0 0 1
MAF 0 1 0 0 0 0 1
MAGEC1, MAGEC3 0 0 1 0 0 0 1
MAP2K2 0 0 1 0 0 0 1
MAPT 1 0 0 0 0 0 1
MED13L 1 0 0 0 0 0 1
MEFV 0 0 1 0 0 0 1
MID1 0 0 1 0 0 0 1
MKKS 0 1 0 0 0 0 1
MLC1 0 1 0 0 0 0 1
MMAA 0 0 1 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
MT-CO2 0 0 1 0 0 0 1
MT-CO3 0 0 1 0 0 0 1
MT-CYB 0 0 1 0 0 0 1
MT-ND1 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
MT-TP, MT-TT 0 0 1 0 0 0 1
MTFMT 1 0 0 0 0 0 1
MUC20, MUC4, PCYT1A, RNF168, SLC51A, SMCO1, TCTEX1D2, TFRC, TM4SF19, TNK2, UBXN7, ZDHHC19 0 0 1 0 0 0 1
MUTYH 0 0 1 0 0 0 1
MYBPC1 0 1 0 0 0 0 1
MYCN 0 0 1 0 0 0 1
MYH11, NDE1 0 1 0 0 0 0 1
MYH9 0 1 0 0 0 0 1
MYL2 0 1 0 0 0 0 1
MYO6 0 0 1 0 0 0 1
MYOT 1 1 0 0 0 0 1
NALCN 0 0 1 0 0 0 1
NBN 1 0 0 0 0 0 1
NCAPH2, SCO2 1 0 0 0 0 0 1
NEFL 1 1 0 0 0 0 1
NEXN 0 0 1 0 0 0 1
NKX2-5 1 0 0 0 0 0 1
NLRP3 0 1 0 0 0 0 1
NOP56 0 0 1 0 0 0 1
NOTCH1 0 0 1 0 0 0 1
NR2E3 1 0 0 0 0 0 1
NRL 0 0 1 0 0 0 1
NSD1 0 1 0 0 0 0 1
OAT 0 1 0 0 0 0 1
OBSL1 0 1 0 0 0 0 1
OCA2 0 1 0 0 0 0 1
OFD1 0 0 1 0 0 0 1
OPHN1 0 1 0 0 0 0 1
OTX2 0 1 0 0 0 0 1
PAX2 0 1 0 0 0 0 1
PCDH19 1 0 0 0 0 0 1
PDCD10 0 1 0 0 0 0 1
PDE6B 0 0 1 0 0 0 1
PDGFRB 0 0 1 0 0 0 1
PDHA1 0 0 1 0 0 0 1
PFN1 0 1 0 0 0 0 1
PHEX, PTCHD1 1 0 0 0 0 0 1
PHF6 0 0 1 0 0 0 1
PIEZO2 1 0 0 0 0 0 1
PKP2 0 1 0 0 0 0 1
PMP22 0 0 1 0 0 0 1
PMS1 0 0 1 0 0 0 1
PNKD 1 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 1
POF1B 0 0 1 0 0 0 1
POU4F3 0 0 1 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
PRPF8 0 0 1 0 0 0 1
PRPH2 0 1 0 0 0 0 1
PRRT2 0 0 1 0 0 0 1
PRSS1, TRB 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
PTEN 0 1 0 0 0 0 1
PTPRQ 1 0 0 0 0 0 1
RET 1 0 0 0 0 0 1
RGR 0 0 1 0 0 0 1
RIT1 0 1 0 0 0 0 1
RNF213 0 0 1 0 0 0 1
RP1 0 0 1 0 0 0 1
RPE65 1 0 0 0 0 0 1
RPGRIP1 0 1 0 0 0 0 1
RYR2 0 0 1 0 0 0 1
SCN2A 0 0 1 0 0 0 1
SCN3A 0 1 0 0 0 0 1
SCN4A 0 1 1 0 0 0 1
SCN9A 1 0 0 0 0 0 1
SCP2 0 0 1 0 0 0 1
SELENON 0 0 1 0 0 0 1
SEPSECS 0 1 0 0 0 0 1
SETX 0 0 1 0 0 0 1
SF3B4 1 0 0 0 0 0 1
SGSH 0 1 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
SHANK3 0 0 1 0 0 0 1
SLC12A6 0 1 0 0 0 0 1
SLC16A2 0 1 0 0 0 0 1
SLC25A4 1 1 1 0 0 0 1
SLC37A4 0 1 0 0 0 0 1
SLC39A13 0 0 1 0 0 0 1
SLC6A8 0 1 0 0 0 0 1
SLC9A6 0 0 1 0 0 0 1
SMAD3 0 1 0 0 0 0 1
SMARCA4 0 0 0 1 0 0 1
SMARCB1 1 0 0 0 0 0 1
SPIN2A, SPIN2B, SPIN3, UBQLN2 0 0 1 0 0 0 1
SPINK1 1 0 0 0 0 0 1
SPTB 1 0 0 0 0 0 1
STIM1 0 0 1 0 0 0 1
SYNE1 0 0 1 0 0 0 1
SYT2 0 1 0 0 0 0 1
TAB2 0 1 0 0 0 0 1
TALDO1 0 0 1 0 0 0 1
TBX22 0 0 1 0 0 0 1
TFAP2A 1 0 0 0 0 0 1
TFAP2B 0 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 0 1
TGM6 0 0 1 0 0 0 1
TNC 0 0 1 0 0 0 1
TNFRSF1A 0 0 1 0 0 0 1
TNNI2 1 0 0 0 0 0 1
TNNI3 0 0 1 0 0 0 1
TP53 0 0 1 0 0 0 1
TPM1 1 0 0 0 0 0 1
TPO 0 1 0 0 0 0 1
TRHR 0 0 1 0 0 0 1
TRPV4 1 0 0 0 0 0 1
TSEN54 1 0 0 0 0 0 1
TSPAN12 1 0 0 0 0 0 1
TTC8 0 1 0 0 0 0 1
TUBGCP5 0 0 1 0 0 0 1
TWNK 0 1 0 0 0 0 1
TYROBP 0 0 1 0 0 0 1
TYRP1 0 1 0 0 0 0 1
UPF3B 0 0 1 0 0 0 1
VHL 1 0 0 0 0 0 1
VWF 1 0 0 0 0 0 1
WASHC5 0 0 1 0 0 0 1
WDR45 1 0 0 0 0 0 1
WFS1 0 0 1 0 0 0 1
WNT10A 0 0 1 0 0 0 1
WRN 0 1 0 0 0 0 1
XIAP 1 0 0 0 0 0 1
ZEB1 1 0 0 0 0 0 1
ZFYVE26 0 0 1 0 0 0 1
ZFYVE27 0 0 1 0 0 0 1
ZGRF1 0 0 1 0 0 0 1
ZMYND11 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 762
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Muscular Diseases 6 7 5 0 0 0 18
Hearing impairment 5 4 5 0 0 0 14
Hypertrophic cardiomyopathy 3 3 5 0 0 0 11
Breast carcinoma 1 0 7 1 0 0 9
Congenital sensorineural hearing impairment 2 3 3 0 0 0 8
Global developmental delay 3 1 3 0 0 0 7
Polycystic kidney dysplasia 7 0 0 0 0 0 7
Seizures 0 0 7 0 0 0 7
Epileptic encephalopathy 0 4 2 0 0 0 6
Cataract; Microcephaly; Severe global developmental delay 0 0 5 0 0 0 5
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 1 0 4 0 0 0 5
Hereditary cancer 0 0 5 0 0 0 5
Distal arthrogryposis 1 3 0 0 0 0 4
Global developmental delay; Progressive microcephaly; Neurodegeneration; Central hypoventilation; Brain atrophy 0 0 4 0 0 0 4
Hypoplasia of the fovea; Albinism; Abnormality of metabolism/homeostasis; Elevated hepatic transaminases; Slow decrease in visual acuity; Choroidal neovascularization 1 2 1 0 0 0 4
Intellectual disability 2 1 1 0 0 0 4
Multiple cafe-au-lait spots 2 2 0 0 0 0 4
Palmoplantar blistering; Skin fragility with non-scarring blistering 1 0 3 0 0 0 4
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 4 0 0 0 4
Seizures; Severe global developmental delay 1 0 3 0 0 0 4
Abnormal bleeding; Prolonged bleeding time 1 2 0 0 0 0 3
Abnormal blistering of the skin 2 0 1 0 0 0 3
Abnormality of the eye; Global developmental delay; Motor delay; Cognitive impairment; Brachycephaly; Delayed speech and language development; Intellectual disability, mild; Generalized hypotonia; Neonatal hypotonia 0 1 2 0 0 0 3
Anonychia 3 0 0 0 0 0 3
Arrhythmia 0 1 2 0 0 0 3
Cavernous hemangioma 2 1 0 0 0 0 3
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 3 0 0 0 3
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 1 0 2 0 0 0 3
Global developmental delay; Hyperammonemia 0 0 3 0 0 0 3
Global developmental delay; Jaundice 3 0 0 0 0 0 3
Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 1 0 2 0 0 0 3
Global developmental delay; Seizures; Muscular hypotonia 0 3 0 0 0 0 3
Hypertelorism; Bilateral cleft lip and palate; Low-set ears; Premature birth; Wide intermamillary distance; Scrotal hypoplasia; Postaxial hand polydactyly; Camptodactyly of finger 1 0 2 0 0 0 3
Metachromatic leukodystrophy variant 0 1 2 0 0 0 3
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 0 3
Myotonia 2 1 0 0 0 0 3
Neoplasm of ovary 2 0 1 0 0 0 3
Neurofibromatosis, type 1 2 1 0 0 0 0 3
Nystagmus; Abnormal electroretinogram 1 1 1 0 0 0 3
Ocular albinism 1 2 0 0 0 0 3
Parkinsonism 0 0 2 0 0 1 3
Primary dilated cardiomyopathy 0 1 2 0 0 0 3
Proteinuria; Hematuria 0 2 1 0 0 0 3
Seizures; Epileptic encephalopathy 0 2 1 0 0 0 3
Sensorimotor neuropathy 1 2 0 0 0 0 3
Sensorineural hearing loss 0 1 2 0 0 0 3
Short stature 2 1 0 0 0 0 3
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormality of dental enamel; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring 3 0 0 0 0 0 3
Visual impairment; Retinal dystrophy; Abnormality of color vision; Horizontal nystagmus 1 1 1 0 0 0 3
2-3 toe syndactyly; Small for gestational age; Elevated 7-dehydrocholesterol; Congenital microcephaly 1 1 0 0 0 0 2
Abnormal macular morphology; Peripheral neuropathy 0 0 2 0 0 0 2
Abnormal retinal morphology 0 1 1 0 0 0 2
Abnormality of cardiovascular system morphology 0 0 2 0 0 0 2
Abnormality of the intrahepatic bile duct 2 0 0 0 0 0 2
Abnormality of the skin; Nail dystrophy; Skin erosion 2 0 0 0 0 0 2
Acanthosis nigricans; Obesity; Brachydactyly; Skeletal dysplasia; Insulin resistance; Short stature; Self-injurious behavior; Renal hypoplasia; Abnormal facial shape; Abnormality of the dentition; Hepatic steatosis; Lumbar hyperlordosis; Hyperlipidemia; Short metacarpal; Intellectual disability, severe 2 0 0 0 0 0 2
Albinism; Abnormal retinal morphology; Strabismus; Abnormality of the optic nerve; Horizontal nystagmus; Hypopigmentation of the skin; Ocular albinism; Fair hair 1 1 0 0 0 0 2
Albinism; Nystagmus; Myopia 2 0 0 0 0 0 2
Amenorrhea 1 0 1 0 0 0 2
Anemia; Splenomegaly 1 0 1 0 0 0 2
Arrhythmia; Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Astigmatism; Leukodystrophy; Motor delay; Seizures; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy 0 0 2 0 0 0 2
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephalus; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 0 2 0 0 0 0 2
Autistic disorder of childhood onset; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development 2 0 0 0 0 0 2
Bilateral talipes equinovarus; Restrictive deficit on pulmonary function testing; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis 0 0 2 0 0 0 2
Blindness 2 0 0 0 0 0 2
Cafe-au-lait spot 2 0 0 0 0 0 2
Cardiac disease 0 0 2 0 0 0 2
Cataplexy; Cerebellar ataxia; Cognitive impairment; Headache; Speech apraxia; Postural instability 2 0 0 0 0 0 2
Cataract; Nystagmus; Retinal dystrophy; Severe Myopia 0 2 0 0 0 0 2
Central sleep apnea syndrome; Respiratory insufficiency; Febrile seizures; Pes planus; Lactic acidosis; External ophthalmoplegia; Gastroesophageal reflux; Decreased activity of the pyruvate dehydrogenase complex; Progressive muscle weakness; Progressive ptosis; Aspiration pneumonia 2 0 0 0 0 0 2
Cerebellar ataxia; Muscle weakness; Dysarthria; Abnormal pyramidal signs 1 1 0 0 0 0 2
Chronic pancreatitis 1 1 0 0 0 0 2
Cleft of soft palate; Talipes equinovarus; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly 0 2 0 0 0 0 2
Cobalamin deficiency; Megaloblastic anemia 1 0 1 0 0 0 2
Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased serum pyruvate 0 0 2 0 0 0 2
Colon cancer 0 0 2 0 0 0 2
Cone/cone-rod dystrophy 0 0 2 0 0 0 2
Cone/cone-rod dystrophy; Retinal pigment epithelial atrophy 2 0 0 0 0 0 2
Congenital muscular dystrophy 1 1 0 0 0 0 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Dysplasia of acetabulum 0 0 2 0 0 0 2
Congenital muscular dystrophy; Muscle weakness 0 0 2 0 0 0 2
Congenital muscular dystrophy; Muscular Diseases; Respiratory insufficiency 0 2 0 0 0 0 2
Congenital myasthenic syndrome 0 0 2 0 0 0 2
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 2 0 0 0 0 2
Cyanosis; Myoclonus; Dyspnea; Neonatal breathing dysregulation; Abnormal pattern of respiration; Breathing dysregulation; Muscular hypotonia 0 0 2 0 0 0 2
Cystic renal dysplasia; Occipital encephalocele 1 1 0 0 0 0 2
Developmental regression 0 1 1 0 0 0 2
Dilatation of ascending aorta; Dilatation 0 0 2 0 0 0 2
Dysarthria; Cerebellar atrophy; Gait ataxia 0 0 2 0 0 0 2
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 2 0 0 0 0 0 2
Dysmetria; Gait ataxia; Gait imbalance 2 0 0 0 0 0 2
Dystonia 0 2 0 0 0 0 2
Dystonia; Depressivity; Parkinsonism; Dementia 0 0 2 0 0 0 2
Dystonia; Mental deterioration; Tremor; Adult-onset night blindness; Peripheral visual field loss 2 0 0 0 0 0 2
Elevated serum creatine phosphokinase; Distal muscle weakness; Fatty replacement of skeletal muscle 1 0 1 0 0 0 2
Elevated serum creatine phosphokinase; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3 2 0 0 0 0 0 2
Elevated serum creatine phosphokinase; Polycystic kidney dysplasia; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 1 1 0 0 0 0 2
Epicanthus; Short stature; Macrotia; Delayed speech and language development; Triangular face; Hypospadias, penile; Strabismus; Laryngeal cleft; Abnormality of the pulmonary veins 0 0 2 0 0 0 2
Erythroderma; Increased IgE level 0 2 0 0 0 0 2
Fontaine progeroid syndrome 2 0 0 0 0 0 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 2
Generalized myoclonic seizures; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay 2 0 0 0 0 0 2
Genu valgum; Pes planus; Hyperextensibility of the finger joints; Generalized hypotonia; Myopathic facies; Hyperextensible hand joints; Hyperextensibility at elbow 0 1 1 0 0 0 2
Global developmental delay; Blindness 2 0 0 0 0 0 2
Global developmental delay; Seizures 0 1 1 0 0 0 2
Glycogen storage disease type 1A 2 0 0 0 0 0 2
Growth delay; Craniosynostosis; Trident hand; Limb undergrowth 0 2 0 0 0 0 2
Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination 0 2 0 0 0 0 2
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormality of the pinna; Microcephaly; Sparse and thin eyebrow; Abnormality of the optic nerve; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Postnatal microcephaly 0 0 0 2 0 0 2
Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness 0 2 0 0 0 0 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertension 0 2 0 0 0 0 2
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth 0 0 2 0 0 0 2
Hypertelorism; Abnormality of digit; Venous malformation; Dural ectasia 1 0 1 0 0 0 2
Hypertelorism; Low-set ears; Abnormal facial shape; Clinodactyly of the 5th finger; Agenesis of corpus callosum 0 1 1 0 0 0 2
Hypertelorism; Short stature; Downslanted palpebral fissures; Edema of the lower limbs 0 1 1 0 0 0 2
Hypertrichosis; Abnormality of metabolism/homeostasis; Coarse facial features; Abnormal facial shape; Thick eyebrow; Hepatosplenomegaly; Mucopolysacchariduria; Intellectual disability, severe 2 0 0 0 0 0 2
Hypertrophic cardiomyopathy; Chest pain 1 0 1 0 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 0 2 0 0 0 0 2
Ichthyosis 2 0 0 0 0 0 2
Ichthyosis; Atopic dermatitis 0 0 2 0 0 0 2
Intellectual disability; Developmental delay 0 2 0 0 0 0 2
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia 1 1 0 0 0 0 2
Ischemic stroke; Focal white matter lesions 0 0 2 0 0 0 2
Jaundice; Erythema 0 0 1 1 0 0 2
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 2 0 0 0 2
Joubert syndrome; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 0 0 2 0 0 0 2
Joubert syndrome; Oligohydramnios; Renal cyst 0 2 0 0 0 0 2
Joubert syndrome; Polycystic kidney dysplasia; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys 2 0 0 0 0 0 2
Leukodystrophy 1 1 0 0 0 0 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizures; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Intrauterine growth retardation; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; EMG abnormality; EMG: axonal abnormality; Loss of ability to walk; Dysmyelinating leukodystrophy 0 2 0 0 0 0 2
Limb-girdle muscular dystrophy; Muscular dystrophy; Waddling gait; Proximal lower limb amyotrophy; Decreased patellar reflex 0 2 0 0 0 0 2
Macrocephalus; Dolichocephaly; Neonatal hypotonia; Large for gestational age 0 0 2 0 0 0 2
Melanoma 0 0 2 0 0 0 2
Mental deterioration; Dementia 1 1 0 0 0 0 2
Migraine with aura 2 0 0 0 0 0 2
Monochromacy 0 2 0 0 0 0 2
Muscle weakness; Hypokalemia; Hypermagnesemia; Myalgia 1 0 1 0 0 0 2
Muscle weakness; Ptosis; Dyspnea; Breathing dysregulation 0 2 0 0 0 0 2
Muscular Diseases; Muscle weakness; Absent Achilles reflex 1 1 0 0 0 0 2
Muscular Diseases; Rhabdomyolysis 0 2 0 0 0 0 2
Muscular dystrophy 1 1 0 0 0 0 2
Muscular dystrophy; Muscle weakness; Arrhythmia; Elbow flexion contracture; Contractures of the joints of the lower limbs 2 0 0 0 0 0 2
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 1 0 0 0 2
Myopia; Progressive sensorineural hearing impairment; Vertigo 0 1 1 0 0 0 2
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 2 0 0 0 0 0 2
Neurodegeneration 2 0 0 0 0 0 2
Nystagmus; Molar tooth sign on MRI; Central hypotonia 2 0 0 0 0 0 2
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertension 1 1 0 0 0 0 2
Optic atrophy; Developmental regression; CNS hypomyelination; Peripheral hypomyelination; Profound global developmental delay 1 0 1 0 0 0 2
Osteoporosis; Myotonia; Mildly elevated creatine phosphokinase; Limb pain 0 0 2 0 0 0 2
Pain insensitivity 2 0 0 0 0 0 2
Palmoplantar keratoderma 0 2 0 0 0 0 2
Pectus excavatum; Cognitive impairment; Abnormality of the corpus callosum; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 0 1 1 0 0 0 2
Peripheral axonal neuropathy 0 2 0 0 0 0 2
Pigmentary retinopathy; Macular degeneration; Blurred vision; Abnormality of retinal pigmentation 0 1 1 0 0 0 2
Polycystic kidney dysplasia; Hypertension 1 1 0 0 0 0 2
Polycystic kidney dysplasia; Multicystic kidney dysplasia 0 1 1 0 0 0 2
Polycystic kidney dysplasia; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 2
Polycystic kidney dysplasia; Renal cyst; Ventricular hypertrophy 2 0 0 0 0 0 2
Polydactyly; Nystagmus; Muscular hypotonia 2 0 0 0 0 0 2
Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay 2 0 0 0 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 2
Recurrent pancreatitis 1 0 1 0 0 0 2
Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 0 2 0 0 0 0 2
Retinitis pigmentosa 0 1 1 0 0 0 2
Retinoblastoma 2 0 0 0 0 0 2
Rhabdomyosarcoma 1 0 1 0 0 0 2
Right ventricular cardiomyopathy 0 1 1 0 0 0 2
Rod-cone dystrophy 0 0 2 0 0 0 2
Scoliosis; Proximal muscle weakness; Delayed gross motor development; Pelvic girdle muscle weakness; Progressive distal muscle weakness 0 1 1 0 0 0 2
Seizures; Connective tissue nevi 1 0 1 0 0 0 2
Seizures; Delayed speech and language development; Macrocephalus; Joint laxity; Generalized joint laxity 0 0 2 0 0 0 2
Seizures; Focal seizures; Heterotopia; Agenesis of corpus callosum 0 0 2 0 0 0 2
Seizures; Memory impairment; Gait ataxia; Spastic paraplegia 1 1 0 0 0 0 2
Seizures; Ventriculomegaly 2 0 0 0 0 0 2
Short chin; Feeding difficulties; Bilateral cryptorchidism; Scrotal hypoplasia; Joint hypermobility; Generalized neonatal hypotonia 2 0 0 0 0 0 2
Short stature; Cognitive impairment 1 0 1 0 0 0 2
Short stature; Deeply set eye; Agenesis of permanent teeth; Microcephaly; Splenomegaly 1 1 0 0 0 0 2
Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Atrioventricular canal defect; Congenital microcephaly; Steroid-resistant nephrotic syndrome 2 0 0 0 0 0 2
Short stature; Hirsutism; Myopia; Synophrys; Intellectual disability, moderate; Congenital microcephaly; Muscular hypotonia 0 0 2 0 0 0 2
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 2 0 0 0 0 0 2
Short stature; Toe syndactyly; Finger syndactyly; Palmoplantar blistering 1 1 0 0 0 0 2
Sleep disturbance; Muscle weakness; Gait disturbance; Rigidity; Gait ataxia; Gait imbalance 0 1 1 0 0 0 2
Spastic paraparesis 1 1 0 0 0 0 2
Spastic paraplegia 2 0 0 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertension 0 0 2 0 0 0 2
Syncope; Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Talipes equinovarus; Abnormality of the foot; Cerebral cortical atrophy; Impaired vibration sensation in the lower limbs; Difficulty walking; EMG: axonal abnormality; Sensorimotor neuropathy; CNS demyelination; Hypertension; Gout 2 0 0 0 0 0 2
Talipes equinovarus; EMG abnormality; Lower limb amyotrophy 2 0 0 0 0 0 2
Talipes equinovarus; Encephalocele; Postaxial polydactyly; Polycystic kidney dysplasia; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 0 2
Talipes equinovarus; Polycystic kidney dysplasia; Narrow chest; Hyperechogenic kidneys 0 0 2 0 0 0 2
Vasculitis 0 0 2 0 0 0 2
Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 1 1 0 0 0 0 2
Visual impairment; Retinopathy 1 0 1 0 0 0 2
Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms 0 1 0 0 0 0 1
Abnormal blistering of the skin; Porphyrinuria; Abdominal colic 1 0 0 0 0 0 1
Abnormal heart morphology; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormality of the trabecular meshwork 0 0 1 0 0 0 1
Abnormality of acid-base homeostasis; Impaired gluconeogenesis 0 0 1 0 0 0 1
Abnormality of carbohydrate metabolism/homeostasis 0 1 0 0 0 0 1
Abnormality of color vision; Macular degeneration; Photophobia 0 1 0 0 0 0 1
Abnormality of the aortic valve 1 0 0 0 0 0 1
Abnormality of the ear; Failure to thrive; Hypotelorism; High palate; Pes planus; Nasal speech; Delayed speech and language development; Triangular face; Intellectual disability, mild; Generalized hypotonia; Leukopenia; Normocytic anemia; Clinodactyly; Attention deficit hyperactivity disorder 1 0 0 0 0 0 1
Abnormality of the ovary; Premature ovarian insufficiency 0 1 0 0 0 0 1
Abnormality of the rectum; Aganglionic megacolon 0 0 1 0 0 0 1
Abnormality of the skeletal system; Myopia; Cutis laxa; Mitral valve prolapse; Abnormality of connective tissue; Scleroderma 0 0 1 0 0 0 1
Abnormality of the skin 0 0 1 0 0 0 1
Abnormality of the thumb; Glaucoma 0 1 0 0 0 0 1
Abnormality of the thumb; Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 0 0 1
Abnormality of the thumb; Spasticity; Synophrys; Thin vermilion border; Morphological abnormality of the central nervous system; Spinal dysraphism 0 1 0 0 0 0 1
Absence seizures; Abnormal brainstem MRI signal intensity 0 0 1 0 0 0 1
Acute intermittent porphyria 1 0 0 0 0 0 1
Adenomatous colonic polyposis 1 0 0 0 0 0 1
Albinism 0 1 0 0 0 0 1
Alopecia areata; Stereotypy; Developmental regression; Incomprehensible speech; Alopecia 0 0 1 0 0 0 1
Amelogenesis imperfecta; Peripheral pulmonary artery stenosis 0 1 0 0 0 0 1
Androgen resistance syndrome 1 0 0 0 0 0 1
Anemia 0 0 1 0 0 0 1
Anemia; Abnormal hemoglobin; Persistence of hemoglobin F; Reduced beta/alpha synthesis ratio 1 0 0 0 0 0 1
Aneurysm of descending aorta; Arterial tortuosity 0 0 1 0 0 0 1
Anterior creases of earlobe; Delayed speech and language development; Strabismus; Glabellar hemangioma; Intellectual disability 0 1 0 0 0 0 1
Aplasia of the uterus; Absent axillary hair; Absent pubic hair; Female external genitalia in individual with 46,XY karyotype 1 0 0 0 0 0 1
Aplasia/Hypoplasia of the corpus callosum; Intellectual disability, severe; Congenital microcephaly 0 1 0 0 0 0 1
Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormality of the pinna; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Dilation of lateral ventricles; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele 1 0 0 0 0 0 1
Arrhythmia; Joint dislocation; Joint laxity; Wolff-Parkinson-White syndrome; Arthralgia; Hyperextensible hand joints 0 0 1 0 0 0 1
Arrhythmia; Noncompaction cardiomyopathy 0 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram 0 0 1 0 0 0 1
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 1 0 0 0 0 0 1
Astigmatism; Velopharyngeal insufficiency; Inguinal hernia; Feeding difficulties; Vomiting; Umbilical hernia; Speech articulation difficulties; Ectopic thymus tissue; Abnormality of the soft palate 1 0 0 0 0 0 1
Astrocytoma; Renal angiomyolipoma; Angiofibromas 0 0 1 0 0 0 1
Ataxia 0 0 1 0 0 0 1
Atrial septal defect; Choanal atresia; Abnormal facial shape; Pyloric stenosis 0 1 0 0 0 0 1
Atrial septal defect; Hydronephrosis; Cerebral atrophy; Large fontanelles; Hypospadias, penile; Abnormality of the nail; Teratoma; Midface retrusion 0 1 0 0 0 0 1
Atrial septal defect; Polycystic kidney dysplasia; Clinodactyly of the 5th finger; Abnormality of the face; Intellectual disability; 4-5 finger syndactyly 0 1 0 0 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 0 1
Autistic behavior; Intellectual disability 0 1 0 0 0 0 1
Autistic behavior; Seizures; Behavioral abnormality; Intellectual disability 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Attention deficit hyperactivity disorder 0 0 1 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay 0 0 1 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Cognitive impairment; Delayed speech and language development; Intellectual disability, moderate 0 0 1 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Delayed speech and language development 1 0 0 0 0 0 1
Autistic disorder of childhood onset; Short attention span; Delayed speech and language development; Long face; Strabismus; Intellectual disability; Generalized joint laxity; Prominent forehead 1 0 0 0 0 0 1
Behavioral abnormality; Slurred speech; Progressive gait ataxia; Abnormality of movement 0 0