ClinVar Miner

Variants from Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Location: Greece  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele risk factor total
603 300 141 16 0 1 1 1 1060

Gene and significance breakdown #

Total genes and gene combinations: 499
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign affects likely risk allele risk factor total
DMD 67 38 6 0 0 0 0 110
NF1 75 17 4 0 0 0 0 96
CLCN1 12 6 5 0 1 0 0 24
FBN1 10 9 3 1 0 0 0 23
RYR1 5 9 4 0 0 0 0 18
NSD1 8 2 1 1 0 0 0 12
SCN1A 9 2 1 0 0 0 0 12
PTPN11 10 0 1 0 0 0 0 11
COL4A5 5 2 2 0 0 0 0 9
COL2A1 4 3 1 0 0 0 0 8
LOC102724058, SCN1A 7 1 0 0 0 0 0 8
COL1A1 7 0 0 0 0 0 0 7
MECP2 6 1 0 0 0 0 0 7
PKHD1 4 2 1 0 0 0 0 7
PKD1 2 4 0 0 0 0 0 6
ABCA4 5 0 0 0 0 0 0 5
ANO5 2 3 0 0 0 0 0 5
COL6A1 2 2 1 0 0 0 0 5
LMNA 4 1 0 0 0 0 0 5
CACNA1S 1 2 1 0 0 0 0 4
CAPN3 3 1 0 0 0 0 0 4
COL3A1 0 3 1 0 0 0 0 4
FLNA 1 0 3 0 0 0 0 4
GNE 3 1 0 0 0 0 0 4
KCNT1 2 3 0 0 0 0 0 4
MTM1 2 2 0 0 0 0 0 4
PCDH19 3 1 0 0 0 0 0 4
PURA 3 1 0 0 0 0 0 4
SLC12A3 3 1 0 0 0 0 0 4
SPAST 2 1 0 0 0 0 1 4
ABAT 0 2 1 0 0 0 0 3
ACVRL1 2 1 0 0 0 0 0 3
ALDOB 3 0 0 0 0 0 0 3
ARX 2 1 0 0 0 0 0 3
CDKL5 3 0 0 0 0 0 0 3
CHD7 3 0 0 0 0 0 0 3
CLCN1, LOC123956257 0 3 0 0 0 0 0 3
COL4A1 2 1 0 0 0 0 0 3
COL6A2 0 2 1 0 0 0 0 3
COL7A1 3 0 0 0 0 0 0 3
EDA 2 1 0 0 0 0 0 3
GALNS 2 1 0 0 0 0 0 3
GJB2 2 1 0 0 0 0 0 3
GNPTAB 2 1 0 0 0 0 0 3
KCNQ2 1 2 0 0 0 0 0 3
KMT2D 2 1 0 0 0 0 0 3
LDLR 1 1 1 0 0 0 0 3
MYBPC3 1 1 1 0 0 0 0 3
MYH2, MYHAS 2 1 0 0 0 0 0 3
MYH7 1 1 1 0 0 0 0 3
NOTCH3 1 1 1 0 0 0 0 3
PAX6 3 0 0 0 0 0 0 3
RIT1 2 1 0 0 0 0 0 3
SCN5A 0 1 2 0 0 0 0 3
SETD1B 1 0 2 0 0 0 0 3
SOS1 2 0 1 0 0 0 0 3
STXBP1 1 2 0 0 0 0 0 3
SYNGAP1 3 0 0 0 0 0 0 3
TBCEL-TECTA, TECTA 2 0 1 0 0 0 0 3
TSC1 1 1 1 0 0 0 0 3
TYR 2 1 0 0 0 0 0 3
USH2A 3 0 0 0 0 0 0 3
USP9X 1 0 1 1 0 0 0 3
ABCD1 1 1 0 0 0 0 0 2
ACAD9 2 0 0 0 0 0 0 2
ACADM 1 1 0 0 0 0 0 2
AGXT 2 0 0 0 0 0 0 2
ALDOA, LOC112694756 0 2 0 0 0 0 0 2
APOB 2 0 0 0 0 0 0 2
ATP1A3 2 0 0 0 0 0 0 2
ATP6V1B2 1 1 0 0 0 0 0 2
ATP7A 1 0 0 1 0 0 0 2
BRCA2 1 1 0 0 0 0 0 2
CEP290 2 0 0 0 0 0 0 2
CHRNG 1 1 0 0 0 0 0 2
CNGB3 2 0 0 0 0 0 0 2
COL11A1 0 1 1 0 0 0 0 2
COL4A3, MFF-DT 0 2 0 0 0 0 0 2
COL4A4 1 0 1 0 0 0 0 2
COL6A3 1 1 0 0 0 0 0 2
CPLANE1 2 0 0 0 0 0 0 2
CSNK2B 2 0 0 0 0 0 0 2
CUX2 0 0 2 0 0 0 0 2
CYP27B1 1 1 0 0 0 0 0 2
DCLRE1C 1 1 0 0 0 0 0 2
DDX3X 2 0 0 0 0 0 0 2
DDX59 0 1 1 0 0 0 0 2
DNAH11 0 0 2 0 0 0 0 2
DNM2 2 0 0 0 0 0 0 2
DPAGT1 0 2 0 0 0 0 0 2
EXT1 2 0 0 0 0 0 0 2
FANCA 2 0 0 0 0 0 0 2
FBN2 0 2 0 0 0 0 0 2
FBP1 1 1 0 0 0 0 0 2
FGFR3 1 0 1 0 0 0 0 2
FGG 2 0 0 0 0 0 0 2
FKTN 0 2 0 0 0 0 0 2
FLCN 1 0 1 0 0 0 0 2
FOXG1 2 0 0 0 0 0 0 2
GABBR2 0 1 0 1 0 0 0 2
GALC 2 0 0 0 0 0 0 2
GBA1, LOC106627981 2 0 0 0 0 0 0 2
GLB1 2 0 0 0 0 0 0 2
GLI3 1 1 0 0 0 0 0 2
GMPPB 1 1 0 0 0 0 0 2
GNAO1 0 1 1 0 0 0 0 2
GNAS 1 1 0 0 0 0 0 2
GPT2 0 2 0 0 0 0 0 2
GRIN2B 2 0 0 0 0 0 0 2
GUCY2D 2 0 0 0 0 0 0 2
HGD 2 0 0 0 0 0 0 2
HIVEP2 0 1 1 0 0 0 0 2
IQCE 1 1 0 0 0 0 0 2
KAT6B 1 1 0 0 0 0 0 2
KIFBP 2 0 0 0 0 0 0 2
KRAS 1 1 0 0 0 0 0 2
LOC126862264, MEFV 2 0 0 0 0 0 0 2
LOC126863207, MID1 0 2 0 0 0 0 0 2
LRP2 0 0 0 2 0 0 0 2
MAP2K1 1 1 0 0 0 0 0 2
MED13L 0 0 2 0 0 0 0 2
MKS1 1 1 0 0 0 0 0 2
MMP2 0 2 0 0 0 0 0 2
MTOR 0 0 2 0 0 0 0 2
MVP-DT, PRRT2 2 0 0 0 0 0 0 2
NEK9 0 2 0 0 0 0 0 2
NFIX 0 0 2 0 0 0 0 2
NIPBL 0 1 1 0 0 0 0 2
NOG 2 0 0 0 0 0 0 2
NOTCH2 0 1 1 0 0 0 0 2
NPHS2 2 0 0 0 0 0 0 2
NPR2 0 1 1 0 0 0 0 2
OPA1 2 0 0 0 0 0 0 2
ORC4 1 1 0 0 0 0 0 2
PAX3 1 1 0 0 0 0 0 2
PEPD 2 0 0 0 0 0 0 2
PIK3CA 2 0 0 0 0 0 0 2
PIK3R1 2 0 0 0 0 0 0 2
PKLR 0 2 0 0 0 0 0 2
PMM2 2 0 0 0 0 0 0 2
POLR3B 0 0 2 0 0 0 0 2
PTCH1 1 0 1 0 0 0 0 2
PYGM 1 1 0 0 0 0 0 2
RAPSN 1 1 0 0 0 0 0 2
RPGR 2 0 0 0 0 0 0 2
SACS 0 1 1 0 0 0 0 2
SAR1B 1 1 0 0 0 0 0 2
SBDS 2 0 0 0 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 0 2
SCN2A 1 1 0 0 0 0 0 2
SCN8A 0 1 1 0 0 0 0 2
SH3TC2 2 0 0 0 0 0 0 2
SLC2A1 0 0 2 0 0 0 0 2
SLC6A8 0 2 0 0 0 0 0 2
SMAD4 2 0 0 0 0 0 0 2
SPTB 1 1 0 0 0 0 0 2
SRCAP 2 0 0 0 0 0 0 2
TEK 0 2 0 0 0 0 0 2
TGFB2 2 0 0 0 0 0 0 2
TNNT2 0 2 0 0 0 0 0 2
TPP1 0 2 0 0 0 0 0 2
TRPS1 1 1 0 0 0 0 0 2
TRPV4 2 0 0 0 0 0 0 2
TTN 0 1 1 0 0 0 0 2
TWNK 2 0 0 0 0 0 0 2
WFS1 2 0 0 0 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3F, ZNHIT3 1 0 0 0 0 0 0 1
ABCA4, LOC126805794 0 1 0 0 0 0 0 1
ABCB11 1 0 0 0 0 0 0 1
ABCB7, ABCD1, ACE2, ACOT9, ACSL4, ACTRT1, ADGRG2, ADGRG4, AFF2, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMELX, AMER1, AMMECR1, AMOT, ANOS1, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSF, ARSH, ARSL, ARX, ASB11, ASB12, ASB9, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCLAF3, BCOR, BCORL1, BEND2, BEX1, BEX2, BEX3, BEX4, BEX5, BGN, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CACNA1F, CAPN6, CASK, CBLL2, CCDC120, CCDC160, CCDC22, CCNB3, CCNQ, CD40LG, CD99L2, CDK16, CDKL5, CDR1, CDX4, CENPI, CETN2, CFAP47, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLIC2, CLTRN, CMC4, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CSAG1, CSAG3, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf58, CXorf65, CXorf66, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX3X, DDX53, DGAT2L6, DGKK, DIAPH2, DIPK2B, DKC1, DLG3, DMD, DMRTC1, DMRTC1B, DNAAF6, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, EOLA1, EOLA2, ERAS, ERCC6L, ESX1, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM3A, FAM47A, FAM47B, FAM47C, FAM50A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FLNA, FMR1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR82, GPRASP1, GPRASP2, GPRASP3, GRIA3, GRIPAP1, GRPR, GSPT2, GUCY2F, GYG2, H2AB1, H2AB2, H2AB3, H2AP, H2BW1, H2BW2, HAUS7, HCCS, HCFC1, HDAC6, HDAC8, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, INE1, INE2, INTS6L, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, KRBOX4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, LOC100509091, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB17, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCF2, MCTS1, MECP2, MED12, MED14, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR424, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR509-3, MIR510, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPC1L, MPP1, MSL3, MSN, MTCP1, MTM1, MTMR1, MTMR8, MTRNR2L10, MXRA5, NAA10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHS, NHSL2, NKAP, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PBDC1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PJA1, PLAC1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R3F, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRR32, PRRG1, PRRG3, PSMD10, PTCHD1, PUDP, PWWP3B, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RADX, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, S100G, SAGE1, SASH3, SAT1, SATL1, SCML1, SCML2, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMIM10, SMIM9, SMPX, SMS, SNORA11, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXB1, SPANXC, SPANXD, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, STS, SUPT20HL1, SUPT20HL2, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAFAZZIN, TASL, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCEANC, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TMEM164, TMEM185A, TMEM187, TMEM255A, TMEM31, TMEM35A, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TXLNG, UBA1, UBE2A, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VBP1, VCX, VCX2, VCX3A, VCX3B, VEGFD, VGLL1, VMA21, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XG, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB 1 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 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, BLID, BSX, CCDC15, CDON, CHEK1, CLMP, CRTAM, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, GRAMD1B, GRIK4, HEPACAM, HEPN1, HSPA8, HYLS1, IGSF9B, JAM3, JHY, KCNJ1, KCNJ5, KIRREL3, LINC02743, LINC02873, LOC101929473, MIR100, MIR125B1, MIRLET7A2, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SC5D, SCN3B, SIAE, SLC37A2, SNX19, SORL1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBCEL, TBRG1, TECTA, THYN1, TIRAP, TMEM218, TMEM225, TMEM45B, TP53AIP1, UBASH3B, VPS26B, VSIG2, VWA5A, ZBTB44, ZNF202 1 0 0 0 0 0 0 1
ACAN 0 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 0 0 0 0 0 0 1
ACSL6, ADAMTS19, AFF4, C5orf15, CCNI2, CDC42SE2, CDKL3, CDKN2AIPNL, CHSY3, CSF2, FBN2, FNIP1, FSTL4, GDF9, HINT1, HSPA4, IL13, IL3, IL4, IL5, IRF1, ISOC1, JADE2, KIF3A, LEAP2, LYRM7, MINAR2, P4HA2, PDLIM4, PPP2CA, RAD50, RAPGEF6, SAR1B, SEC24A, SEPTIN8, SHROOM1, SKP1, SLC22A4, SLC22A5, SLC27A6, SOWAHA, TCF7, UBE2B, UQCRQ, VDAC1, ZCCHC10 1 0 0 0 0 0 0 1
ACTB 1 0 0 0 0 0 0 1
ACTL6B 1 0 0 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 1
ADNP 1 0 0 0 0 0 0 1
AFF3 1 0 0 0 0 0 0 1
AGL 1 0 0 0 0 0 0 1
AIRE 0 1 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 1
ALAS2 0 1 0 0 0 0 0 1
ALDH5A1 1 0 0 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 1
ALMS1 1 0 0 0 0 0 0 1
ALOX12B 1 0 0 0 0 0 0 1
ALOX12B, LOC130060196 0 1 0 0 0 0 0 1
ALPK2, ATP8B1, FECH, GRP, MALT1, MIR122, NARS1, NEDD4L, ONECUT2, SEC11C, ST8SIA3, ZNF532 1 0 0 0 0 0 0 1
ALPK3, LOC111718493 0 1 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 1 0 0 0 0 0 0 1
AMD1, CDK19 1 0 0 0 0 0 0 1
ANK2 0 0 1 0 0 0 0 1
AP2M1 0 0 1 0 0 0 0 1
AP4M1 0 0 1 0 0 0 0 1
AP4S1 1 0 0 0 0 0 0 1
APBB2, CHRNA9, LIMCH1, NSUN7, PHOX2B, RBM47, TMEM33, UCHL1 1 0 0 0 0 0 0 1
APOA1 0 1 0 0 0 0 0 1
APOLD1, BCL2L14, BORCS5, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1, LRP6, MANSC1, PRB1, PRB2, PRB4 1 0 0 0 0 0 0 1
ARPC1B 1 0 0 0 0 0 0 1
ASL 1 0 0 0 0 0 0 1
ASXL1 0 0 0 1 0 0 0 1
ATL1 1 0 0 0 0 0 0 1
ATM, C11orf65 1 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 1
ATP1A2 0 1 0 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 0 0 0 1
ATXN10 0 0 1 0 0 0 0 1
AVPR2 1 0 0 0 0 0 0 1
BBS1 1 0 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 0 1
BBS2 0 1 0 0 0 0 0 1
BBS5 1 0 0 0 0 0 0 1
BCLAF3, SH3KBP1 0 0 1 0 0 0 0 1
BCR, C22orf15, CHCHD10, DERL3, DRICH1, GGTLC2, GNAZ, IGLC1, IGLL1, IGLL5, MMP11, PRAME, RAB36, RGL4, RSPH14, SMARCB1, VPREB3, ZNF70 1 0 0 0 0 0 0 1
BLM 1 0 0 0 0 0 0 1
BRAF 1 0 0 0 0 0 0 1
BUB1B 1 0 0 0 0 0 0 1
C12orf4 0 1 0 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 1
CACNA1F 1 0 0 0 0 0 0 1
CALB1, CCNE2, CDH17, CFAP418, CIBAR1, CPQ, DECR1, DPY19L4, ESRP1, FSBP, GDF6, GEM, INTS8, LINC02906, LRRC69, MMP16, MTERF3, NBN, NDUFAF6, NECAB1, OSGIN2, OTUD6B, PDP1, PIP4P2, PLEKHF2, PTDSS1, RAD54B, RBM12B, RIPK2, RUNX1T1, SDC2, SLC26A7, TMEM64, TMEM67, TP53INP1, TRIQK, UQCRB, VIRMA 1 0 0 0 0 0 0 1
CAMK2B 0 0 0 1 0 0 0 1
CAPN3, LOC130056921 1 0 0 0 0 0 0 1
CAPRIN1 1 0 0 0 0 0 0 1
CASD1, SGCE 1 0 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 1
CBL 1 0 0 0 0 0 0 1
CBX1, CDC27, CDK5RAP3, COPZ2, EFCAB13, GOSR2, ITGB3, KPNB1, LRRC46, MIR152, MRPL10, MYL4, NFE2L1, NPEPPS, OSBPL7, PNPO, PRR15L, RPRML, SCRN2, SKAP1, SNX11, SP2, SP6, TBKBP1, TBX21, WNT9B 0 1 0 0 0 0 0 1
CCN6 0 1 0 0 0 0 0 1
CCNK 0 0 1 0 0 0 0 1
CDK8 0 0 0 1 0 0 0 1
CDKN1C 1 0 0 0 0 0 0 1
CEP85L, PLN 1 0 0 0 0 0 0 1
CHD1 0 0 0 1 0 0 0 1
CHD2 0 0 0 1 0 0 0 1
CHD3 1 0 0 0 0 0 0 1
CHD4 0 0 1 0 0 0 0 1
CHM, LOC129391306 0 1 0 0 0 0 0 1
CIC 1 0 0 0 0 0 0 1
CLCN4 1 0 0 0 0 0 0 1
CLCN7 1 0 0 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 0 1
CLDN2, DNAAF6, MORC4, NRK, NUP62CL, PWWP3B, RADX, RBM41, RIPPLY1, RNF128, SERPINA7, TBC1D8B 0 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 0 1 0 0 0 0 1
CNOT3 1 0 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 1
COL4A2 1 0 0 0 0 0 0 1
COL5A1 1 0 0 0 0 0 0 1
COMP 0 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 1
CRYAA 1 0 0 0 0 0 0 1
CRYBB2 1 0 0 0 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 0 0 1
CTXN2, SLC12A1 0 1 0 0 0 0 0 1
CUL3 1 0 0 0 0 0 0 1
CYCS 0 0 1 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 1
CYLD, NOD2 0 0 0 0 0 1 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 0 1
DCX 1 0 0 0 0 0 0 1
DDB1 0 0 0 1 0 0 0 1
DDX11 1 0 0 0 0 0 0 1
DEPDC5 1 0 0 0 0 0 0 1
DHCR7 1 0 0 0 0 0 0 1
DHX37 1 0 0 0 0 0 0 1
DICER1 1 0 0 0 0 0 0 1
DLG3 0 0 1 0 0 0 0 1
DNAJC19 1 0 0 0 0 0 0 1
DNAJC30 0 1 0 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 0 0 1
DNM1L 0 0 1 0 0 0 0 1
DPP6 1 0 0 0 0 0 0 1
DYNC1H1 0 1 0 0 0 0 0 1
DYRK1A 1 0 0 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 0 1
EHMT1 1 0 0 0 0 0 0 1
ELN 0 1 0 0 0 0 0 1
ENG 0 1 0 0 0 0 0 1
EPC2, MBD5 0 1 0 0 0 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 0 0 1
FANCC 1 0 0 0 0 0 0 1
FANCL 1 0 0 0 0 0 0 1
FBLN5 0 0 1 0 0 0 0 1
FERMT1 1 0 0 0 0 0 0 1
FGFR1 0 0 1 0 0 0 0 1
FGFR2 1 0 0 0 0 0 0 1
FHL1 0 1 0 0 0 0 0 1
FHOD3 0 0 1 0 0 0 0 1
FKBP10 1 0 0 0 0 0 0 1
FKRP 1 0 0 0 0 0 0 1
FLG 0 1 0 0 0 0 0 1
FLNB 0 0 0 1 0 0 0 1
FOXP1 0 0 1 0 0 0 0 1
FREM1 0 0 1 0 0 0 0 1
FRMPD4 0 0 1 0 0 0 0 1
G6PD 1 0 0 0 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 0 0 1
GATA2 1 0 0 0 0 0 0 1
GCK 0 0 1 0 0 0 0 1
GCM2 0 1 0 0 0 0 0 1
GDF9 0 1 0 0 0 0 0 1
GFAP 1 0 0 0 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 0 0 1
GHSR 0 0 1 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 1
GPT2, LOC130058930 0 1 0 0 0 0 0 1
GRIA2 0 0 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 0 0 1
GRIN2D 0 0 0 1 0 0 0 1
GTPBP2, LOC129996523, POLR1C 1 0 0 0 0 0 0 1
H3-3B 0 1 0 0 0 0 0 1
HAX1 0 1 0 0 0 0 0 1
HDAC4 1 0 0 0 0 0 0 1
HNF1B 1 0 0 0 0 0 0 1
HNRNPA1 0 1 0 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 0 0 1
HNRNPU 1 0 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 0 1
HUWE1 0 0 1 0 0 0 0 1
IDH3A 1 0 0 0 0 0 0 1
IDS 1 0 0 0 0 0 0 1
IFIH1 1 0 0 0 0 0 0 1
IFNAR2-IL10RB, IL10RB 1 0 0 0 0 0 0 1
IGSF1 0 1 0 0 0 0 0 1
ITCH 1 0 0 0 0 0 0 1
ITPR1 0 1 0 0 0 0 0 1
ITPR1, LOC126806590 0 1 0 0 0 0 0 1
ITSN1 1 0 0 0 0 0 0 1
JAG1 1 0 0 0 0 0 0 1
JAG2 0 1 0 0 0 0 0 1
KANSL1 1 0 0 0 0 0 0 1
KAT5 0 0 1 0 0 0 0 1
KAT6A 1 0 0 0 0 0 0 1
KAT8 1 0 0 0 0 0 0 1
KCNH2 0 0 1 0 0 0 0 1
KCNJ10 0 1 0 0 0 0 0 1
KCNJ2 1 0 0 0 0 0 0 1
KCNJ8 0 1 0 0 0 0 0 1
KCNQ1 1 0 0 0 0 0 0 1
KCNQ1, KCNQ1OT1 0 1 0 0 0 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 0 0 0 1
KDM6A 1 0 0 0 0 0 0 1
KIDINS220 0 0 1 0 0 0 0 1
KIF1A 1 0 0 0 0 0 0 1
KIF22 0 1 0 0 0 0 0 1
KIF5C 0 0 1 0 0 0 0 1
KIT 1 0 0 0 0 0 0 1
KITLG 0 0 1 0 0 0 0 1
KLHL24 1 0 0 0 0 0 0 1
KMT2A 1 0 0 0 0 0 0 1
KMT2C 1 0 0 0 0 0 0 1
KRT10 1 0 0 0 0 0 0 1
KRT9 1 0 0 0 0 0 0 1
LAMA2 0 1 0 0 0 0 0 1
LHX4 0 1 0 0 0 0 0 1
LIFR 1 0 0 0 0 0 0 1
LOC109611589, RUNX2 0 1 0 0 0 0 0 1
LOC126860568, RIC1 0 1 0 0 0 0 0 1
LOC126861897, MHRT, MYH7 1 0 0 0 0 0 0 1
LOC126861897, MYH7 0 0 1 0 0 0 0 1
LOC129935594, PNKD 1 0 0 0 0 0 0 1
LOC130009585, UFM1 1 0 0 0 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 0 0 1
LRBA, MAB21L2 1 0 0 0 0 0 0 1
LTBP2 1 0 0 0 0 0 0 1
LZTR1 1 0 0 0 0 0 0 1
MAGEL2 1 0 0 0 0 0 0 1
MAPK1 0 1 0 0 0 0 0 1
MED12 0 0 1 0 0 0 0 1
MED13 0 0 1 0 0 0 0 1
MEF2C 1 0 0 0 0 0 0 1
MEIS2 1 0 0 0 0 0 0 1
MERTK 1 0 0 0 0 0 0 1
MORC2 0 0 1 0 0 0 0 1
MPV17 1 0 0 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 0 0 1
MYH11, NDE1 0 1 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 0 1
MYH3 1 0 0 0 0 0 0 1
MYO7A 0 0 1 0 0 0 0 1
MYOC 1 0 0 0 0 0 0 1
MYT1L 0 0 1 0 0 0 0 1
NAA10 0 1 0 0 0 0 0 1
NAGLU 1 0 0 0 0 0 0 1
NALCN 0 0 1 0 0 0 0 1
NEB 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
NFIA 0 1 0 0 0 0 0 1
NHLRC1 1 0 0 0 0 0 0 1
NKAP 0 0 1 0 0 0 0 1
NKX2-1, SFTA3 0 0 1 0 0 0 0 1
NLRP12 0 1 0 0 0 0 0 1
NPHS1 0 1 0 0 0 0 0 1
NR1D1, THRA 1 0 0 0 0 0 0 1
NR2F1 1 0 0 0 0 0 0 1
NR5A1 0 1 0 0 0 0 0 1
OCRL 0 1 0 0 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 0 0 1
OPN1LW 1 0 0 0 0 0 0 1
PACS2 1 0 0 0 0 0 0 1
PAFAH1B1 1 0 0 0 0 0 0 1
PDE6B 0 0 1 0 0 0 0 1
PDE6G 0 0 1 0 0 0 0 1
PDHA1 0 1 0 0 0 0 0 1
PHEX 0 1 0 0 0 0 0 1
PHF6 1 0 0 0 0 0 0 1
PHKA2 1 0 0 0 0 0 0 1
PKD1L1 0 1 0 0 0 0 0 1
PKD2 1 0 0 0 0 0 0 1
PLP1, RAB9B 0 1 0 0 0 0 0 1
PLS3 0 0 1 0 0 0 0 1
PMP22 1 0 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3B 1 0 0 0 0 0 0 1
POGZ 1 0 0 0 0 0 0 1
POLR2A 0 1 0 0 0 0 0 1
POU3F4 0 0 1 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 0 1
PRDM5 1 0 0 0 0 0 0 1
PROKR2 0 0 1 0 0 0 0 1
RAB11B 1 0 0 0 0 0 0 1
RAG1 0 0 1 0 0 0 0 1
RARB 1 0 0 0 0 0 0 1
RB1 1 0 0 0 0 0 0 1
RNASEH2A 1 0 0 0 0 0 0 1
RNASEH2C 0 1 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 1
RP2 0 1 0 0 0 0 0 1
RPL11 1 0 0 0 0 0 0 1
RPS26 1 0 0 0 0 0 0 1
RPS6KA3 1 0 0 0 0 0 0 1
RUNX2 1 0 0 0 0 0 0 1
SCN1A, SCN7A, SCN9A 1 0 0 0 0 0 0 1
SDHB 0 1 0 0 0 0 0 1
SET 1 0 0 0 0 0 0 1
SETD2 0 0 1 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 1
SF3B1 0 0 1 0 0 0 0 1
SGCB 1 0 0 0 0 0 0 1
SH3BP2 1 0 0 0 0 0 0 1
SHANK3 0 1 0 0 0 0 0 1
SHH 0 0 1 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
SIX3 1 0 0 0 0 0 0 1
SLC12A1 0 1 0 0 0 0 0 1
SLC22A5 1 0 0 0 0 0 0 1
SLC29A3 1 0 0 0 0 0 0 1
SLC37A4 1 0 0 0 0 0 0 1
SLC52A2 1 0 0 0 0 0 0 1
SLCO1B1, SLCO1B3, SLCO1B7 0 1 0 0 0 0 0 1
SMARCA2 1 0 0 0 0 0 0 1
SMCHD1 0 1 0 0 0 0 0 1
SNHG14, UBE3A 0 1 0 0 0 0 0 1
SOS2 0 0 1 0 0 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 0 0 1
SPEN 0 1 0 0 0 0 0 1
SPOP 0 0 0 1 0 0 0 1
SPTA1 0 1 0 0 0 0 0 1
SPTAN1 0 0 1 0 0 0 0 1
SSR4 0 1 0 0 0 0 0 1
TAOK1 0 1 0 0 0 0 0 1
TBX1 0 0 1 0 0 0 0 1
TCF12 0 1 0 0 0 0 0 1
TCF4 0 1 0 0 0 0 0 1
TGFB3 0 0 1 0 0 0 0 1
TGFBI 0 1 0 0 0 0 0 1
TGFBR2 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 1
TMEM106B 0 1 0 0 0 0 0 1
TMPRSS15 1 0 0 0 0 0 0 1
TMPRSS6 0 1 0 0 0 0 0 1
TNC 0 0 1 0 0 0 0 1
TNFRSF13B 0 1 0 0 0 0 0 1
TOR1A 1 0 0 0 0 0 0 1
TP63 0 1 0 0 0 0 0 1
TPM1 0 1 0 0 0 0 0 1
TPM2 0 1 0 0 0 0 0 1
TRIP12 0 0 1 0 0 0 0 1
TRPV6 0 1 0 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 1
TTC21B 0 1 0 0 0 0 0 1
TUBB2B 1 0 0 0 0 0 0 1
TUBB3 1 0 0 0 0 0 0 1
TULP1 1 0 0 0 0 0 0 1
VWF 1 0 0 0 0 0 0 1
WAS 1 0 0 0 0 0 0 1
WDR73 0 1 0 0 0 0 0 1
WNK4 0 0 1 0 0 0 0 1
WNT1 0 1 0 0 0 0 0 1
WNT10A 0 0 1 0 0 0 0 1
XK 1 0 0 0 0 0 0 1
ZFPM2 0 1 0 0 0 0 0 1
ZMYM2 1 0 0 0 0 0 0 1
ZNF142 0 1 0 0 0 0 0 1
ZNF462 0 1 0 0 0 0 0 1
ZNF699 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 522
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign affects likely risk allele risk factor total
Neurofibromatosis, type 1 75 17 5 0 0 0 0 97
Duchenne muscular dystrophy 61 31 0 0 0 0 0 92
Congenital myotonia, autosomal recessive form 11 9 5 0 1 0 0 26
Marfan syndrome 10 9 3 1 0 0 0 23
Becker muscular dystrophy 3 6 5 0 0 0 0 14
Central core myopathy 4 5 4 0 0 0 0 13
Sotos syndrome 9 1 1 1 0 0 0 12
Generalized epilepsy with febrile seizures plus, type 2 9 1 0 0 0 0 0 10
Hereditary spastic paraplegia 4 6 3 0 0 0 0 1 10
Severe myoclonic epilepsy in infancy 8 1 1 0 0 0 0 10
X-linked Alport syndrome 5 2 2 0 0 0 0 9
Noonan syndrome 1 8 0 0 0 0 0 0 8
Rett syndrome 6 1 0 0 0 0 0 7
Bethlem myopathy 1 1 3 2 0 0 0 0 6
Osteogenesis imperfecta type I 6 0 0 0 0 0 0 6
Polycystic kidney disease, adult type 2 4 0 0 0 0 0 6
Severe early-childhood-onset retinal dystrophy 5 1 0 0 0 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2A 4 1 0 0 0 0 0 5
Polycystic kidney disease 4 2 2 1 0 0 0 0 5
Spondyloperipheral dysplasia 3 1 1 0 0 0 0 5
Developmental and epileptic encephalopathy, 14 1 3 0 0 0 0 0 4
Elevated circulating creatine kinase concentration 2 2 0 0 0 0 0 4
Familial hypokalemia-hypomagnesemia 3 1 0 0 0 0 0 4
GNE myopathy 3 1 0 0 0 0 0 4
Goldberg-Shprintzen syndrome 2 2 0 0 0 0 0 4
Hypokalemic periodic paralysis, type 1 1 2 1 0 0 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 3 1 0 0 0 0 0 4
Severe X-linked myotubular myopathy 2 2 0 0 0 0 0 4
Ullrich congenital muscular dystrophy 1 2 2 0 0 0 0 0 4
Aniridia 1 3 0 0 0 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 2 0 0 0 0 0 3
Brain small vessel disease 1 with or without ocular anomalies 2 1 0 0 0 0 0 3
CHARGE association 3 0 0 0 0 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 1 0 0 0 0 3
Congenital multicore myopathy with external ophthalmoplegia 0 3 0 0 0 0 0 3
Congenital muscular dystrophy due to LMNA mutation 2 1 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 1 2 1 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 2 3 0 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 4 1 2 0 0 0 0 0 3
Developmental and epileptic encephalopathy, 9 3 0 0 0 0 0 0 3
Dilated cardiomyopathy 1S 0 1 2 0 0 0 0 3
Dilated cardiomyopathy 3B 2 0 1 0 0 0 0 3
Gamma-aminobutyric acid transaminase deficiency 0 2 1 0 0 0 0 3
Glutamate pyruvate transaminase 2 deficiency 0 3 0 0 0 0 0 3
Hereditary fructosuria 3 0 0 0 0 0 0 3
Hypercholesterolemia, familial, 1 1 1 1 0 0 0 0 3
Hypertrophic cardiomyopathy 4 1 1 1 0 0 0 0 3
Hypohidrotic X-linked ectodermal dysplasia 2 1 0 0 0 0 0 3
Infantile convulsions and choreoathetosis 3 0 0 0 0 0 0 3
Intellectual developmental disorder with seizures and language delay 1 0 2 0 0 0 0 3
Intellectual disability, autosomal dominant 5 3 0 0 0 0 0 0 3
Kabuki syndrome 1 2 1 0 0 0 0 0 3
LEOPARD syndrome 1 2 0 1 0 0 0 0 3
Mucolipidosis type II 2 1 0 0 0 0 0 3
Mucopolysaccharidosis, MPS-IV-A 2 1 0 0 0 0 0 3
Myopathy, proximal, and ophthalmoplegia 2 1 0 0 0 0 0 3
Noonan syndrome 4 2 0 1 0 0 0 0 3
Noonan syndrome 8 2 1 0 0 0 0 0 3
Recessive dystrophic epidermolysis bullosa 3 0 0 0 0 0 0 3
Telangiectasia, hereditary hemorrhagic, type 2 2 1 0 0 0 0 0 3
Tuberous sclerosis 1 1 1 1 0 0 0 0 3
Tyrosinase-negative oculocutaneous albinism 2 1 0 0 0 0 0 3
Usher syndrome type 2A 3 0 0 0 0 0 0 3
Achromatopsia 3 2 0 0 0 0 0 0 2
Acyl-CoA dehydrogenase 9 deficiency 2 0 0 0 0 0 0 2
Adrenoleukodystrophy 1 1 0 0 0 0 0 2
Alkaptonuria 2 0 0 0 0 0 0 2
Autosomal dominant Alport syndrome 0 2 0 0 0 0 0 2
Autosomal dominant centronuclear myopathy 2 0 0 0 0 0 0 2
Autosomal dominant optic atrophy classic form 2 0 0 0 0 0 0 2
Autosomal recessive congenital ichthyosis 2 1 1 0 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 1 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 1 0 0 0 0 0 2
Autosomal recessive multiple pterygium syndrome 1 1 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 21 1 0 1 0 0 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 0 0 0 2
Bardet-Biedl syndrome 1 2 0 0 0 0 0 0 2
Bartter disease type 1 0 2 0 0 0 0 0 2
Benign familial hematuria 1 0 1 0 0 0 0 2
Birt-Hogg-Dube syndrome 1 0 1 0 0 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 1 0 0 0 0 0 2
CLAPO syndrome 2 0 0 0 0 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 2 0 0 0 0 2
Cardiofaciocutaneous syndrome 3 1 1 0 0 0 0 0 2
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease type 4C 2 0 0 0 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 1 1 0 0 0 0 2
Chylomicron retention disease 1 1 0 0 0 0 0 2
Cleidocranial dysostosis 1 1 0 0 0 0 0 2
Congenital contractural arachnodactyly 0 2 0 0 0 0 0 2
Congenital myasthenic syndrome 11 1 1 0 0 0 0 0 2
Congenital myasthenic syndrome 13 0 2 0 0 0 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 0 0 0 2
Creatine transporter deficiency 0 2 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 11 1 1 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 13 0 1 1 0 0 0 0 2
Developmental and epileptic encephalopathy, 59 0 1 0 1 0 0 0 2
Developmental and epileptic encephalopathy, 67 0 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 7 0 2 0 0 0 0 0 2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 2 0 0 0 0 2
Dilated cardiomyopathy 1D 0 2 0 0 0 0 0 2
Donnai-Barrow syndrome 0 0 0 2 0 0 0 2
Exostoses, multiple, type 1 2 0 0 0 0 0 0 2
Familial Mediterranean fever 2 0 0 0 0 0 0 2
Fanconi anemia complementation group A 2 0 0 0 0 0 0 2
Fanconi anemia complementation group D1 1 1 0 0 0 0 0 2
Floating-Harbor syndrome 2 0 0 0 0 0 0 2
Fructose-biphosphatase deficiency 1 1 0 0 0 0 0 2
Galactosylceramide beta-galactosidase deficiency 2 0 0 0 0 0 0 2
Gaucher disease type I 2 0 0 0 0 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 0 0 2
Gorlin syndrome 1 0 1 0 0 0 0 2
Greig cephalopolysyndactyly syndrome 1 1 0 0 0 0 0 2
HNSHA due to aldolase A deficiency 0 2 0 0 0 0 0 2
Hereditary cryohydrocytosis with reduced stomatin 0 0 2 0 0 0 0 2
Hereditary spherocytosis type 2 1 1 0 0 0 0 0 2
Holoprosencephaly 2 1 1 0 0 0 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 2 0 0 0 0 2
Infantile GM1 gangliosidosis 2 0 0 0 0 0 0 2
Infantile onset spinocerebellar ataxia 2 0 0 0 0 0 0 2
Intellectual disability, X-linked 102 2 0 0 0 0 0 0 2
Intellectual disability, X-linked 99 0 0 1 1 0 0 0 2
Intellectual disability, autosomal dominant 43 0 1 1 0 0 0 0 2
Intellectual disability, autosomal dominant 6 2 0 0 0 0 0 0 2
Joubert syndrome 17 2 0 0 0 0 0 0 2
Joubert syndrome 28 1 1 0 0 0 0 0 2
Leber congenital amaurosis 1 2 0 0 0 0 0 0 2
Leber hereditary optic neuropathy, autosomal recessive 1 1 0 0 0 0 0 2
Loeys-Dietz syndrome 4 2 0 0 0 0 0 0 2
Long QT syndrome 1 1 1 0 0 0 0 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 2 0 0 0 0 2
Malignant hyperthermia, susceptibility to, 1 1 1 0 0 0 0 0 2
Meckel syndrome, type 4 2 0 0 0 0 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 0 0 0 0 2
Meier-Gorlin syndrome 2 1 1 0 0 0 0 0 2
Menkes kinky-hair syndrome 1 0 0 1 0 0 0 2
Miyoshi muscular dystrophy 3 1 1 0 0 0 0 0 2
Multicentric osteolysis nodulosis arthropathy spectrum 0 2 0 0 0 0 0 2
Multiple cutaneous and mucosal venous malformations 0 2 0 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 2 0 0 0 0 0 2
Myhre syndrome 2 0 0 0 0 0 0 2
Nephrotic syndrome, type 2 2 0 0 0 0 0 0 2
Neurodevelopmental disorder with involuntary movements 0 1 1 0 0 0 0 2
Neuronal ceroid lipofuscinosis 2 0 2 0 0 0 0 0 2
Noonan syndrome 3 1 1 0 0 0 0 0 2
Orofaciodigital syndrome V 0 1 1 0 0 0 0 2
Oto-palato-digital syndrome, type I 0 0 2 0 0 0 0 2
PMM2-congenital disorder of glycosylation 2 0 0 0 0 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 2 0 0 0 0 0 0 2
Polydactyly, postaxial, type a7 1 1 0 0 0 0 0 2
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 2 0 0 0 0 0 2
Primary ciliary dyskinesia 7 0 0 2 0 0 0 0 2
Primary hyperoxaluria, type I 2 0 0 0 0 0 0 2
Prolidase deficiency 2 0 0 0 0 0 0 2
Pyruvate kinase deficiency of red cells 0 2 0 0 0 0 0 2
Rett syndrome, congenital variant 2 0 0 0 0 0 0 2
Severe combined immunodeficiency due to DCLRE1C deficiency 1 1 0 0 0 0 0 2
Shwachman-Diamond syndrome 1 2 0 0 0 0 0 0 2
Trichorhinophalangeal dysplasia type I 1 1 0 0 0 0 0 2
Vitamin D-dependent rickets, type 1A 1 1 0 0 0 0 0 2
Waardenburg syndrome type 1 1 1 0 0 0 0 0 2
Wolfram syndrome 1 2 0 0 0 0 0 0 2
X-linked Opitz G/BBB syndrome 0 2 0 0 0 0 0 2
X-linked cone-rod dystrophy 1 2 0 0 0 0 0 0 2
Zimmermann-Laband syndrome 2 1 1 0 0 0 0 0 2
not provided 2 0 0 0 0 0 0 2
11q partial monosomy syndrome 1 0 0 0 0 0 0 1
15q11q13 microduplication syndrome 1 0 0 0 0 0 0 1
3-methylglutaconic aciduria type 5 1 0 0 0 0 0 0 1
46,XY sex reversal 11 1 0 0 0 0 0 0 1
46,XY sex reversal 9 0 1 0 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 0 0 0 1
AFF3-related neurodevelopmental disorders 1 0 0 0 0 0 0 1
ATP6V1B2 related neurodevelopmental disorders 1 0 0 0 0 0 0 1
Achondroplasia 0 0 1 0 0 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 0 0 1
Aicardi-Goutieres syndrome 3 0 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 4 1 0 0 0 0 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 0 0 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 1 0 0 0 0 0 1
Alexander disease 1 0 0 0 0 0 0 1
Alstrom syndrome 1 0 0 0 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 0 0 1
Angelman syndrome 0 1 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 10 0 1 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 0 0 1
Autistic behavior 1 0 0 0 0 0 0 1
Autosomal dominant hypocalcemia 1 0 1 0 0 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 0 0 1
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0 1 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 1 0 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 0 0 0 1
Autosomal dominant osteopetrosis 2 1 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 0 0 1
Bardet-Biedl syndrome 2 0 1 0 0 0 0 0 1
Bardet-Biedl syndrome 5 1 0 0 0 0 0 0 1
Bartter disease type 3 1 0 0 0 0 0 0 1
Beckwith-Wiedemann syndrome 1 0 0 0 0 0 0 1
Benign hereditary chorea 0 0 1 0 0 0 0 1
Bloom syndrome 1 0 0 0 0 0 0 1
Bohring-Opitz syndrome 0 0 0 1 0 0 0 1
Bone mineral density quantitative trait locus 18 0 0 1 0 0 0 0 1
Boomerang dysplasia 0 0 0 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 0 0 0 1
Brachydactyly type B2 1 0 0 0 0 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 0 0 0 0 1
Brittle cornea syndrome 2 1 0 0 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 1 0 0 0 0 0 0 1
Bruck syndrome 1 1 0 0 0 0 0 0 1
Brugada syndrome 1 0 0 1 0 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 0 0 0 1
CAPRIN1-related neurodevelopmental disorders 1 0 0 0 0 0 0 1
CBL-related disorder 1 0 0 0 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 0 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 0 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 0 0 1
Cataract 3 multiple types 1 0 0 0 0 0 0 1
Cataract 9 multiple types 1 0 0 0 0 0 0 1
Catifa syndrome 0 1 0 0 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 0 0 1
Chilblain lupus 1 0 1 0 0 0 0 0 1
Cholestasis 1 0 0 0 0 0 0 1
Choroideremia 0 1 0 0 0 0 0 1
Chromosome 15q11.2 deletion syndrome 1 0 0 0 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 0 0 1
Chromosome 2q37 deletion syndrome 1 0 0 0 0 0 0 1
Clark-Baraitser syndrome 0 0 1 0 0 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 0 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 7 1 0 0 0 0 0 0 1
Cone monochromatism 1 0 0 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 0 0 1
Congenital myopathy 23 0 1 0 0 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 0 0 0 1
Congenital nongoitrous hypothryoidism 6 1 0 0 0 0 0 0 1
Congenital reticular ichthyosiform erythroderma 1 0 0 0 0 0 0 1
Costello syndrome 1 0 0 0 0 0 0 1
Crouzon syndrome 1 0 0 0 0 0 0 1
DEGCAGS syndrome 1 0 0 0 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 0 0 0 1
Developmental and epileptic encephalopathy 94 0 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 99 1 0 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 87 1 0 0 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 0 0 0 0 1
DiGeorge syndrome 0 0 1 0 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 0 0 0 1
Diamond-Blackfan anemia 10 1 0 0 0 0 0 0 1
Diamond-Blackfan anemia 7 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1P 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 0 0 0 1
EAST syndrome 0 1 0 0 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 0 0 0 1
Ehlers-danlos syndrome, arthrochalasia type, 2 0 0 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 1 0 0 0 0 1
Enterokinase deficiency 1 0 0 0 0 0 0 1
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 1 0 0 0 0 0 0 1
Epidermolytic palmoplantar keratoderma 1 0 0 0 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 0 0 1
Euthyroid goiter 1 0 0 0 0 0 0 1
Facioscapulohumeral muscular dystrophy 2 0 1 0 0 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 0 0 0 1
Familial cold autoinflammatory syndrome 2 0 1 0 0 0 0 0 1
Familial dysfibrinogenemia 1 0 0 0 0 0 0 1
Familial hypobetalipoproteinemia 1 1 0 0 0 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 1 0 0 0 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 0 0 1
Fanconi anemia complementation group L 1 0 0 0 0 0 0 1
Fibrous dysplasia of jaw 1 0 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 0 0 1
Freeman-Sheldon syndrome 1 0 0 0 0 0 0 1
Galloway-Mowat syndrome 1 0 1 0 0 0 0 0 1
Gillespie syndrome 0 1 0 0 0 0 0 1
Glaucoma 1, open angle, A 1 0 0 0 0 0 0 1
Glomuvenous malformation 1 0 0 0 0 0 0 1
Glucose-6-phosphate transport defect 1 0 0 0 0 0 0 1
Glycogen storage disease IXa1 1 0 0 0 0 0 0 1
Glycogen storage disease type III 1 0 0 0 0 0 0 1
H syndrome 1 0 0 0 0 0 0 1
HNF1B-related disorders 1 0 0 0 0 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 0 0 0 1
Hearing loss, autosomal dominant 37 0 1 0 0 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 0 0 1
Hereditary spastic paraplegia 50 0 0 1 0 0 0 0 1
Hereditary spastic paraplegia 73 0 1 0 0 0 0 0 1
Hereditary spherocytosis type 3 0 1 0 0 0 0 0 1
Heterotaxy, visceral, 8, autosomal 0 1 0 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 0 0 1
Histiocytic medullary reticulosis 0 0 1 0 0 0 0 1
Holoprosencephaly 3 0 0 1 0 0 0 0 1
Hutchinson-Gilford syndrome 1 0 0 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 0 0 1
Hyperinsulinism due to glucokinase deficiency 0 0 1 0 0 0 0 1
Hyperparathyroidism 4 0 1 0 0 0 0 0 1
Hyperparathyroidism, transient neonatal 0 1 0 0 0 0 0 1
Hyperpigmentation with or without hypopigmentation, familial progressive 0 0 1 0 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 1 1 0 0 0 0 0 0 1
Hypogonadotropic hypogonadism 26 with or without anosmia 0 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 0 0 1
Ichthyosis vulgaris 0 1 0 0 0 0 0 1
Immunodeficiency 36 1 0 0 0 0 0 0 1
Immunodeficiency 61 0 0 1 0 0 0 0 1
Immunodeficiency, common variable, 2 0 1 0 0 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 0 1 0 0 0 0 0 1
Inflammatory bowel disease 1 0 0 0 0 0 1 0 1
Inflammatory bowel disease 25 1 0 0 0 0 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 0 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 0 0 1
Intellectual developmental disorder with hypertelorism and distinctive facies 0 0 1 0 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 0 1 0 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 1 0 0 0 0 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 0 0 1
Intellectual disability, X-linked 49 1 0 0 0 0 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 0 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 20 1 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 33 1 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 45 1 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 54 0 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 58 1 0 0 0 0 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 0 0 0 1
Intellectual disability, autosomal recessive 66 0 1 0 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 0 1 0 0 0 0 1
Iron-refractory iron deficiency anemia 0 1 0 0 0 0 0 1
Jaberi-Elahi syndrome 1 0 0 0 0 0 0 1
KCNT1-related channelopathy 1 0 0 0 0 0 0 1
KINSSHIP syndrome 1 0 0 0 0 0 0 1
Kabuki syndrome 2 1 0 0 0 0 0 0 1
Kindler syndrome 1 0 0 0 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 0 0 1
Kleefstra syndrome 2 1 0 0 0 0 0 0 1
Klinefelter syndrome 1 0 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 0 1
Kostmann syndrome 0 1 0 0 0 0 0 1
Lafora disease 1 0 0 0 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 0 0 1
Leber congenital amaurosis 15 1 0 0 0 0 0 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 0 0 0 1
Leukodystrophy, hypomyelinating, 16 0 1 0 0 0 0 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 1 0 0 0 0 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 0 0 1
Long QT syndrome 2 0 0 1 0 0 0 0 1
Long QT syndrome 3 0 1 0 0 0 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 0 0 0 0 1
Lowe syndrome 0 1 0 0 0 0 0 1
Luscan-Lumish syndrome 0 0 1 0 0 0 0 1
Macular degeneration, age-related, 3 0 0 1 0 0 0 0 1
Malan overgrowth syndrome 0 0 1 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 0 0 1
Marshall-Smith syndrome 0 0 1 0 0 0 0 1
McLeod neuroacanthocytosis syndrome 1 0 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 0 0 0 0 1
Melnick-Needles syndrome 1 0 0 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 1 0 0 0 0 0 0 1
Microphthalmia, syndromic 12 1 0 0 0 0 0 0 1
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 1 0 0 0 0 0 0 1
Migraine, familial hemiplegic, 2 0 1 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 0 0 1
Monocytopenia with susceptibility to infections 1 0 0 0 0 0 0 1
Mosaic variegated aneuploidy syndrome 1 1 0 0 0 0 0 0 1
Moyamoya disease 2 0 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-B 1 0 0 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 1 0 0 0 0 0 1
Myelodysplastic syndrome 0 0 1 0 0 0 0 1
Myoclonic dystonia 11 1 0 0 0 0 0 0 1
Myopathy, reducing body, X-linked, early-onset, severe 0 1 0 0 0 0 0 1
Myosin storage myopathy 1 0 0 0 0 0 0 1
NOG-related disorders 1 0 0 0 0 0 0 1
Nemaline myopathy 2 0 0 1 0 0 0 0 1
Nephronophthisis 12 0 1 0 0 0 0 0 1
Neurodevelopmental disorder and language delay with or without structural brain abnormalities 1 0 0 0 0 0 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 1 0 0 0 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 0 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 0 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 0 0 0 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 0 0 1 0 0 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 0 0 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 0 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Noonan syndrome 10 1 0 0 0 0 0 0 1
Noonan syndrome 13 0 1 0 0 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 0 0 0 1
Ogden syndrome 0 1 0 0 0 0 0 1
Osteogenesis imperfecta type 15 0 1 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 0 0 0 1
PCDH19-related epilespy 0 1 0 0 0 0 0 1
PNPO-related disorders 0 1 0 0 0 0 0 1
Paragangliomas 4 0 1 0 0 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 0 0 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 0 0 0 0 1
Phelan-McDermid syndrome 0 1 0 0 0 0 0 1
Piebaldism 1 0 0 0 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 0 1 0 0 0 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 0 0 0 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 0 0 1
Polyglandular autoimmune syndrome, type 1 0 1 0 0 0 0 0 1
Porencephaly 2 1 0 0 0 0 0 0 1
Potocki-Lupski syndrome 1 0 0 0 0 0 0 1
Premature chromatid separation trait 1 0 0 0 0 0 0 1
Premature ovarian failure 14 0 1 0 0 0 0 0 1
Premature ovarian failure 7 0 1 0 0 0 0 0 1
Primary ciliary dyskinesia 0 1 0 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 2 1 0 0 0 0 0 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 0 0 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 0 0 0 1
Pseudopseudohypoparathyroidism 0 1 0 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 0 0 0 1
Radio-Tartaglia syndrome 0 1 0 0 0 0 0 1
Reis-Bucklers' corneal dystrophy 0 1 0 0 0 0 0 1
Renal carnitine transport defect 1 0 0 0 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 0 0 0 1
Retinitis pigmentosa 2 0 1 0 0 0 0 0 1
Retinitis pigmentosa 38 1 0 0 0 0 0 0 1
Retinitis pigmentosa 40 0 0 1 0 0 0 0 1
Retinitis pigmentosa 49 0 0 1 0 0 0 0 1
Retinitis pigmentosa 57 0 0 1 0 0 0 0 1
Retinitis pigmentosa 90 1 0 0 0 0 0 0 1
Retinoblastoma 1 0 0 0 0 0 0 1
Rotor syndrome 0 1 0 0 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 0 0 0 1
SCN1A-related channelopathy 0 1 0 0 0 0 0 1
SHORT syndrome 1 0 0 0 0 0 0 1
SSR4-congenital disorder of glycosylation 0 1 0 0 0 0 0 1
SYNGAP1-related encephalopathy 1 0 0 0 0 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 0 0 1
Schwannomatosis 1 1 0 0 0 0 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 0 0 0 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 0 0 0 0 0 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 0 0 0 0 1
Short stature with nonspecific skeletal abnormalities 0 0 1 0 0 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 1 0 0 0 0 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 0 0 0 1
Smith-Lemli-Opitz syndrome 1 0 0 0 0 0 0 1
Snijders Blok-Campeau syndrome 1 0 0 0 0 0 0 1
Spastic paraplegia 52, autosomal recessive 1 0 0 0 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 0 0 1
Spinocerebellar ataxia type 10 0 0 1 0 0 0 0 1
Spinocerebellar ataxia type 15/16 0 1 0 0 0 0 0 1
Spinocerebellar ataxia type 35 1 0 0 0 0 0 0 1
Split hand-foot malformation 4 0 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Maroteaux type 1 0 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 1 0 0 0 0 0 0 1
Spondylometaphyseal dysplasia, Kozlowski type 1 0 0 0 0 0 0 1
Stickler syndrome type 1 0 1 0 0 0 0 0 1
Stickler syndrome type 2 0 0 1 0 0 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 0 0 0 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 0 0 1
Syndromic multisystem autoimmune disease due to ITCH deficiency 1 0 0 0 0 0 0 1
Teebi hypertelorism syndrome 1 0 0 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 0 0 1
Thrombocytopenia 4 0 0 1 0 0 0 0 1
Tooth agenesis, selective, 4 0 0 1 0 0 0 0 1
Trigonocephaly 1 0 0 1 0 0 0 0 1
Trigonocephaly 2 0 0 1 0 0 0 0 1
Tuberous sclerosis 2 0 0 1 0 0 0 0 1
WDR73-related disorders 1 0 0 0 0 0 0 1
Warsaw breakage syndrome 1 0 0 0 0 0 0 1
Weiss-kruszka syndrome 0 1 0 0 0 0 0 1
White-Kernohan syndrome 0 0 0 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 0 0 1
Williams syndrome 1 0 0 0 0 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 0 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 1 0 0 0 0 0 1
X-linked cone-rod dystrophy 3 1 0 0 0 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus 0 0 1 0 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 0 0 0 0 1
X-linked sideroblastic anemia 1 0 1 0 0 0 0 0 1
von Willebrand disease type 1 1 0 0 0 0 0 0 1

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