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:
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Gene type:

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 total
911 475 141 16 0 1 1540

Gene and significance breakdown #

Total genes and gene combinations: 649
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign affects total
DMD 69 38 6 0 0 112
NF1 76 18 4 0 0 98
FBN1 11 11 3 1 0 26
CLCN1 12 6 5 0 1 24
PAH 17 1 0 0 0 18
RYR1 5 9 4 0 0 18
CFTR 11 3 0 0 0 14
NSD1 8 3 1 1 0 13
PKHD1 8 5 1 0 0 13
PTPN11 12 0 1 0 0 13
SCN1A 10 2 1 0 0 13
ATP7B 7 5 0 0 0 12
USH2A 9 3 0 0 0 12
CAPN3 8 2 0 0 0 10
COL2A1 5 4 1 0 0 10
GJB2 8 2 0 0 0 10
COL1A1 9 0 0 0 0 9
COL4A5 5 2 2 0 0 9
PKD1 4 5 0 0 0 9
SLC22A5 5 4 0 0 0 9
DHCR7 6 2 0 0 0 8
HBB, LOC106099062, LOC107133510 8 0 0 0 0 8
LOC102724058, SCN1A 7 1 0 0 0 8
ACADM 4 3 0 0 0 7
ASL 7 0 0 0 0 7
MECP2 6 1 0 0 0 7
GAA 6 0 0 0 0 6
NEB 2 3 1 0 0 6
ABCA4 5 0 0 0 0 5
ALMS1 2 3 0 0 0 5
ANO5 2 3 0 0 0 5
BBS2 1 4 0 0 0 5
COL1A2 4 0 1 0 0 5
COL3A1 0 4 1 0 0 5
COL6A1 2 2 1 0 0 5
FLNA 1 1 3 0 0 5
GNPTAB 2 3 0 0 0 5
KMT2D 4 1 0 0 0 5
LDLR 3 1 1 0 0 5
LMNA 4 1 0 0 0 5
MYO7A 2 2 1 0 0 5
NAGLU 5 0 0 0 0 5
NPC1 2 3 0 0 0 5
SACS 0 4 1 0 0 5
SPAST 4 1 0 0 0 5
ACADVL 4 0 0 0 0 4
AMT 4 0 0 0 0 4
ATM, C11orf65 4 0 0 0 0 4
CACNA1S 1 2 1 0 0 4
CHD7 4 0 0 0 0 4
COL4A4 1 2 1 0 0 4
COL6A2 1 2 1 0 0 4
CYP21A2, LOC106780800 4 0 0 0 0 4
FANCA 3 1 0 0 0 4
FKTN 1 3 0 0 0 4
GALC 3 1 0 0 0 4
GNE 3 1 0 0 0 4
HEXB 3 1 0 0 0 4
HGSNAT 2 2 0 0 0 4
KCNT1 2 3 0 0 0 4
MTM1 2 2 0 0 0 4
MYBPC3 1 2 1 0 0 4
PCDH19 3 1 0 0 0 4
PMM2 4 0 0 0 0 4
PURA 3 1 0 0 0 4
SLC12A3 3 1 0 0 0 4
USP9X 1 1 1 1 0 4
VPS13B 3 1 0 0 0 4
ABAT 0 2 1 0 0 3
ABCD1, PLXNB3 3 0 0 0 0 3
ACADS 3 0 0 0 0 3
ACVRL1 2 1 0 0 0 3
AGL 1 2 0 0 0 3
AGXT 3 0 0 0 0 3
ALDOB 3 0 0 0 0 3
ARX 2 1 0 0 0 3
ASS1 3 0 0 0 0 3
ATM 2 1 0 0 0 3
AXDND1, NPHS2 2 1 0 0 0 3
BCKDHB 2 1 0 0 0 3
BTD 2 1 0 0 0 3
CBS 3 0 0 0 0 3
CDKL5 3 0 0 0 0 3
CFTR, LOC111674472 0 3 0 0 0 3
CLCN1, LOC123956257 0 3 0 0 0 3
COL4A1 2 1 0 0 0 3
COL4A3, MFF-DT 0 3 0 0 0 3
COL7A1 3 0 0 0 0 3
CREBBP 0 3 0 0 0 3
CYP27A1 2 1 0 0 0 3
DBT 1 2 0 0 0 3
DNM2 3 0 0 0 0 3
DYSF 0 3 0 0 0 3
EDA 2 1 0 0 0 3
EVC 1 2 0 0 0 3
FGFR3 2 0 1 0 0 3
GALNS 2 1 0 0 0 3
GBA1, LOC106627981 3 0 0 0 0 3
GLB1 2 1 0 0 0 3
GLDC 1 2 0 0 0 3
GNAS 1 2 0 0 0 3
GNPTG 2 1 0 0 0 3
HBB, LOC107133510, LOC110006319 3 0 0 0 0 3
HOGA1 2 1 0 0 0 3
KCNQ2 1 2 0 0 0 3
LAMA3 2 1 0 0 0 3
LIPA 2 1 0 0 0 3
LOC126862264, MEFV 3 0 0 0 0 3
LOC126863207, MID1 0 3 0 0 0 3
MEFV 1 2 0 0 0 3
MKS1 1 2 0 0 0 3
MYH2, MYHAS 2 1 0 0 0 3
MYH7 1 1 1 0 0 3
NBN 2 1 0 0 0 3
NOTCH3 1 1 1 0 0 3
NPHP4 1 2 0 0 0 3
NPHS2 3 0 0 0 0 3
PAX6 3 0 0 0 0 3
PCDH15 0 3 0 0 0 3
PEX6 1 2 0 0 0 3
PTS 2 1 0 0 0 3
RIT1 2 1 0 0 0 3
SCN5A 0 1 2 0 0 3
SETD1B 1 0 2 0 0 3
SLC26A4 3 0 0 0 0 3
SOS1 2 0 1 0 0 3
SPTB 2 1 0 0 0 3
STXBP1 1 2 0 0 0 3
SYNGAP1 3 0 0 0 0 3
TBCEL-TECTA, TECTA 2 0 1 0 0 3
TGM1 2 1 0 0 0 3
TRPV4 3 0 0 0 0 3
TSC1 1 1 1 0 0 3
TTN 1 1 1 0 0 3
TYR 2 1 0 0 0 3
USH1C 0 3 0 0 0 3
ABCD1 0 2 0 0 0 2
ACAD9 2 0 0 0 0 2
AIRE 1 1 0 0 0 2
ALDH3A2 1 1 0 0 0 2
ALDOA, LOC112694756 0 2 0 0 0 2
ALPL 2 0 0 0 0 2
ANKRD11 2 0 0 0 0 2
APOB 2 0 0 0 0 2
ATP1A3 2 0 0 0 0 2
ATP6V1B2 1 1 0 0 0 2
ATP7A 1 0 0 1 0 2
BBS1 1 1 0 0 0 2
BBS1, ZDHHC24 2 0 0 0 0 2
BLM 2 0 0 0 0 2
BRAF 2 0 0 0 0 2
BRCA2 1 1 0 0 0 2
CD36 1 1 0 0 0 2
CEP290 2 0 0 0 0 2
CHD3 1 1 0 0 0 2
CHD4 0 1 1 0 0 2
CHRNG 1 1 0 0 0 2
CNGB3 2 0 0 0 0 2
COL11A1 0 1 1 0 0 2
COL5A1 1 1 0 0 0 2
COL6A3 1 1 0 0 0 2
CPLANE1 2 0 0 0 0 2
CSNK2B 2 0 0 0 0 2
CTNS 0 2 0 0 0 2
CUL7 1 1 0 0 0 2
CUX2 0 0 2 0 0 2
CYP27B1 1 1 0 0 0 2
DCLRE1C 1 1 0 0 0 2
DDX3X 2 0 0 0 0 2
DDX59 0 1 1 0 0 2
DEPDC5 2 0 0 0 0 2
DLD 1 1 0 0 0 2
DNAH11 0 0 2 0 0 2
DPAGT1 0 2 0 0 0 2
EHMT1 2 0 0 0 0 2
EXT1 2 0 0 0 0 2
FBN2 0 2 0 0 0 2
FBP1 1 1 0 0 0 2
FGG 2 0 0 0 0 2
FKRP 2 0 0 0 0 2
FLCN 1 0 1 0 0 2
FOXG1 2 0 0 0 0 2
GABBR2 0 1 0 1 0 2
GALK1 0 2 0 0 0 2
GALK1, ITGB4 2 0 0 0 0 2
GALT 2 0 0 0 0 2
GAREM2, HADHA 2 0 0 0 0 2
GLI3 1 1 0 0 0 2
GMPPB 1 1 0 0 0 2
GNAO1 0 1 1 0 0 2
GPT2 0 2 0 0 0 2
GRIN2B 2 0 0 0 0 2
GUCY2D 2 0 0 0 0 2
HEXA 1 1 0 0 0 2
HGD 2 0 0 0 0 2
HIVEP2 0 1 1 0 0 2
HLCS 1 1 0 0 0 2
HNRNPH2, RPL36A-HNRNPH2 2 0 0 0 0 2
IQCE 1 1 0 0 0 2
KANSL1 2 0 0 0 0 2
KAT6B 1 1 0 0 0 2
KIFBP 2 0 0 0 0 2
KRAS 1 1 0 0 0 2
LAMA2 0 2 0 0 0 2
LAMB3 2 0 0 0 0 2
LRP2 0 0 0 2 0 2
MAP2K1 1 1 0 0 0 2
MED12 0 1 1 0 0 2
MED13L 0 0 2 0 0 2
MMP2 0 2 0 0 0 2
MMUT 2 0 0 0 0 2
MPV17 2 0 0 0 0 2
MTOR 0 0 2 0 0 2
MVP-DT, PRRT2 2 0 0 0 0 2
NEB, RIF1 1 1 0 0 0 2
NEK9 0 2 0 0 0 2
NFIX 0 0 2 0 0 2
NIPBL 0 1 1 0 0 2
NOG 2 0 0 0 0 2
NOTCH2 0 1 1 0 0 2
NPHS1 1 1 0 0 0 2
NPR2 0 1 1 0 0 2
OPA1 2 0 0 0 0 2
ORC4 1 1 0 0 0 2
PAX3 1 1 0 0 0 2
PEPD 2 0 0 0 0 2
PEX7 1 1 0 0 0 2
PIK3CA 2 0 0 0 0 2
PIK3R1 2 0 0 0 0 2
PKLR 0 2 0 0 0 2
PNPLA6 1 1 0 0 0 2
POLR3B 0 0 2 0 0 2
PPP1CB 1 1 0 0 0 2
PROP1 2 0 0 0 0 2
PTCH1 1 0 1 0 0 2
PYGM 1 1 0 0 0 2
RAPSN 1 1 0 0 0 2
RPGR 2 0 0 0 0 2
SAR1B 1 1 0 0 0 2
SBDS 2 0 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 2
SCN2A 1 1 0 0 0 2
SCN8A 0 1 1 0 0 2
SGCB 1 1 0 0 0 2
SGSH 2 0 0 0 0 2
SH3TC2 2 0 0 0 0 2
SLC12A1 0 2 0 0 0 2
SLC12A5 0 2 0 0 0 2
SLC26A2 1 1 0 0 0 2
SLC2A1 0 0 2 0 0 2
SLC37A4 1 1 0 0 0 2
SLC6A8 0 2 0 0 0 2
SMAD4 2 0 0 0 0 2
SMARCA2 2 0 0 0 0 2
SMPD1 2 0 0 0 0 2
SPINK5 1 1 0 0 0 2
SPTAN1 1 0 1 0 0 2
SRCAP 2 0 0 0 0 2
STAR 2 0 0 0 0 2
TEK 0 2 0 0 0 2
TGFB2 2 0 0 0 0 2
TGM6 1 1 0 0 0 2
TH 2 0 0 0 0 2
TNNT2 0 2 0 0 0 2
TPM2 1 1 0 0 0 2
TPP1 0 2 0 0 0 2
TRIP12 1 0 1 0 0 2
TRPS1 1 1 0 0 0 2
TWNK 2 0 0 0 0 2
WAS 1 1 0 0 0 2
WFS1 2 0 0 0 0 2
XPA 1 1 0 0 0 2
ZMYM2 1 1 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 1
ABCA4, LOC126805794 0 1 0 0 0 1
ABCB11 1 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, 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, 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, KRABD4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC01560, 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, VCF2, 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 1
ABCC8 1 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 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, BLID, BSX, CCDC15, CDON, CHEK1, CLMP, CRTAM, DCPS, DDX25, EI24, ESAM, ETS1, 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, SIRAL1, 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 1
ACAN 0 1 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 1 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 1
ACTB 1 0 0 0 0 1
ACTG2 0 1 0 0 0 1
ACTL6B 1 0 0 0 0 1
ACTN2 0 0 1 0 0 1
ADA 0 1 0 0 0 1
ADA, PKIG 1 0 0 0 0 1
ADNP 1 0 0 0 0 1
AFF3 1 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SACK1G, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 1
AKT3 0 1 0 0 0 1
ALAS2 0 1 0 0 0 1
ALDH5A1 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, CDIPT, CORO1A, DOC2A, FIMP1, 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 1
ALOX12B 1 0 0 0 0 1
ALOX12B, LOC130060196 0 1 0 0 0 1
ALPK2, ATP8B1, FECH, GRP, MALT1, MIR122, NARS1, NEDD4L, ONECUT2, SEC11C, ST8SIA3, ZNF532 1 0 0 0 0 1
ALPK3, LOC111718493 0 1 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 1 0 0 0 0 1
AMD1, CDK19 1 0 0 0 0 1
ANK2 0 0 1 0 0 1
ANOS1 0 1 0 0 0 1
AOPEP, FANCC 1 0 0 0 0 1
AP2M1 0 0 1 0 0 1
AP4M1 0 0 1 0 0 1
AP4S1 1 0 0 0 0 1
APBB2, CHRNA9, LIMCH1, NSUN7, PHOX2B, RBM47, TMEM33, UCHL1 1 0 0 0 0 1
APOA1 0 1 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 1
ARPC1B 1 0 0 0 0 1
ARSA 1 0 0 0 0 1
ARSL 0 1 0 0 0 1
ASL, LOC129998526 0 1 0 0 0 1
ASPA, SPATA22 1 0 0 0 0 1
ASXL1 0 0 0 1 0 1
ATL1 1 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 1
ATP1A2 0 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 0 1
ATXN10 0 0 1 0 0 1
AVPR2 1 0 0 0 0 1
BBS12 0 1 0 0 0 1
BBS5 1 0 0 0 0 1
BCKDHA 1 0 0 0 0 1
BCLAF3, SH3KBP1 0 0 1 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 1
BCS1L 1 0 0 0 0 1
BUB1B 1 0 0 0 0 1
CACNA1A 0 0 1 0 0 1
CACNA1F 1 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 1
CAMK2B 0 0 0 1 0 1
CAPN3, LOC130056921 1 0 0 0 0 1
CAPRIN1 1 0 0 0 0 1
CASD1, SGCE 1 0 0 0 0 1
CASR 0 1 0 0 0 1
CBL 1 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 1
CCDST, FLG 0 1 0 0 0 1
CCN6 0 1 0 0 0 1
CCNK 0 0 1 0 0 1
CDK8 0 0 0 1 0 1
CDKL5, RS1 1 0 0 0 0 1
CDKN1C 1 0 0 0 0 1
CEP85L, PLN 1 0 0 0 0 1
CHD1 0 0 0 1 0 1
CHD2 0 0 0 1 0 1
CHM, LOC129391306 0 1 0 0 0 1
CIC 1 0 0 0 0 1
CLCN4 1 0 0 0 0 1
CLCN7 1 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 1
CLDN2, DNAAF6, MORC4, NRK, NUP62CL, PWWP3B, RADX, RBM41, RIPPLY1, RNF128, SERPINA7, TBC1D8B 0 1 0 0 0 1
CLN6 1 0 0 0 0 1
CNGA1, LOC101927157 0 0 1 0 0 1
CNOT3 1 0 0 0 0 1
COL4A2 1 0 0 0 0 1
COMP 0 1 0 0 0 1
CPS1 0 1 0 0 0 1
CPT2 1 0 0 0 0 1
CRYAA 1 0 0 0 0 1
CRYBB2 1 0 0 0 0 1
CTNNB1, LOC126806659 1 0 0 0 0 1
CUL3 1 0 0 0 0 1
CYCS 0 0 1 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 1
CYLD, NOD2 0 1 0 0 0 1
DCX 1 0 0 0 0 1
DDB1 0 0 0 1 0 1
DDX11 1 0 0 0 0 1
DES 1 0 0 0 0 1
DHX37 1 0 0 0 0 1
DICER1 1 0 0 0 0 1
DLG3 0 0 1 0 0 1
DNAJC19 1 0 0 0 0 1
DNAJC30 0 1 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 1
DNM1L 0 1 0 0 0 1
DNMT3A 1 0 0 0 0 1
DPP6 0 0 1 0 0 1
DYNC1H1 0 1 0 0 0 1
DYRK1A 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 1
ELN 0 1 0 0 0 1
ENG 0 1 0 0 0 1
EP300 1 0 0 0 0 1
EPC2, MBD5 0 1 0 0 0 1
ERCC6, PGBD3 0 1 0 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 1
EYS 0 1 0 0 0 1
EYS, PHF3 1 0 0 0 0 1
FAH 1 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FANCA, LOC132090450 1 0 0 0 0 1
FANCC 1 0 0 0 0 1
FANCL 1 0 0 0 0 1
FAS 0 1 0 0 0 1
FBLN5 0 0 1 0 0 1
FBXW11 0 1 0 0 0 1
FERMT1 1 0 0 0 0 1
FERRY3 0 1 0 0 0 1
FGD1 0 1 0 0 0 1
FGFR1 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FHL1 0 1 0 0 0 1
FHOD3 0 0 1 0 0 1
FKBP10 1 0 0 0 0 1
FLNB 0 0 0 1 0 1
FOXF1 1 0 0 0 0 1
FOXL2 1 0 0 0 0 1
FOXP1 0 0 1 0 0 1
FREM1 0 0 1 0 0 1
FRMPD4 0 0 1 0 0 1
G6PC1 1 0 0 0 0 1
G6PD 1 0 0 0 0 1
GATA2 1 0 0 0 0 1
GCDH 1 0 0 0 0 1
GCDH, LOC126862860, SYCE2 1 0 0 0 0 1
GCK 0 0 1 0 0 1
GCM2 0 1 0 0 0 1
GDF9 0 1 0 0 0 1
GFAP 1 0 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 1
GHSR 0 0 1 0 0 1
GLMN 1 0 0 0 0 1
GNB5 0 1 0 0 0 1
GPT2, LOC130058930 0 1 0 0 0 1
GRHPR 1 0 0 0 0 1
GRIA2 0 0 1 0 0 1
GRIN2A 0 1 0 0 0 1
GRIN2D 0 0 0 1 0 1
GTPBP2, LOC129996523 1 0 0 0 0 1
H3-3B 0 1 0 0 0 1
HAX1 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HDAC4 1 0 0 0 0 1
HDAC8 1 0 0 0 0 1
HNF1B 1 0 0 0 0 1
HNRNPA1 0 1 0 0 0 1
HNRNPU 1 0 0 0 0 1
HPS1 1 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HUWE1 0 0 1 0 0 1
IDH3A 1 0 0 0 0 1
IDS 1 0 0 0 0 1
IFIH1 1 0 0 0 0 1
IFITM5, PGGHG 1 0 0 0 0 1
IFNAR2-IL10RB, IL10RB 1 0 0 0 0 1
IGSF1 0 1 0 0 0 1
IL2RG 0 1 0 0 0 1
ITCH 1 0 0 0 0 1
ITPR1 0 1 0 0 0 1
ITPR1, LOC126806590 0 1 0 0 0 1
ITSN1 1 0 0 0 0 1
IVD 1 0 0 0 0 1
JAG1 1 0 0 0 0 1
JAG2 0 1 0 0 0 1
KAT5 0 0 1 0 0 1
KAT6A 1 0 0 0 0 1
KAT8 1 0 0 0 0 1
KCNH2 0 0 1 0 0 1
KCNJ10 0 1 0 0 0 1
KCNJ11 0 1 0 0 0 1
KCNJ2 1 0 0 0 0 1
KCNJ8 0 1 0 0 0 1
KCNQ1 1 0 0 0 0 1
KCNQ1, KCNQ1OT1 0 1 0 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 0 1
KDM6A 1 0 0 0 0 1
KDM6B, LOC121587574 0 0 1 0 0 1
KIDINS220 0 0 1 0 0 1
KIF11 0 1 0 0 0 1
KIF1A 1 0 0 0 0 1
KIF22 0 1 0 0 0 1
KIF5C 0 0 1 0 0 1
KIT 1 0 0 0 0 1
KITLG 0 0 1 0 0 1
KLHL24 1 0 0 0 0 1
KMT2A 1 0 0 0 0 1
KMT2C 1 0 0 0 0 1
KRT10 1 0 0 0 0 1
KRT9 1 0 0 0 0 1
LAMC2 0 1 0 0 0 1
LHX4 0 1 0 0 0 1
LIFR 1 0 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LOC109611589, RUNX2 0 1 0 0 0 1
LOC126859690, PKHD1 1 0 0 0 0 1
LOC126860568, RIC1 0 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 0 1
LOC126861897, MHRT, MYH7 1 0 0 0 0 1
LOC126861897, MYH7 0 0 1 0 0 1
LOC126861898, MYH7 0 1 0 0 0 1
LOC129935594, PNKD 1 0 0 0 0 1
LOC130009585, UFM1 1 0 0 0 0 1
LOX, SRFBP1 0 1 0 0 0 1
LRBA, MAB21L2 1 0 0 0 0 1
LRPPRC 0 1 0 0 0 1
LTBP2 1 0 0 0 0 1
LZTR1 1 0 0 0 0 1
MAGEL2 1 0 0 0 0 1
MAN2B1 0 1 0 0 0 1
MAPK1 0 1 0 0 0 1
MCM2 0 0 1 0 0 1
MCOLN1 0 1 0 0 0 1
MED13 0 0 1 0 0 1
MEF2C 1 0 0 0 0 1
MEIS2 1 0 0 0 0 1
MERTK 1 0 0 0 0 1
MMACHC 1 0 0 0 0 1
MORC2 0 0 1 0 0 1
MPI 1 0 0 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MPZL2 1 0 0 0 0 1
MYH11, NDE1 0 1 0 0 0 1
MYH14 0 0 1 0 0 1
MYH3 1 0 0 0 0 1
MYOC 1 0 0 0 0 1
MYT1L 0 0 1 0 0 1
NAA10 0 1 0 0 0 1
NALCN 0 0 1 0 0 1
NEXMIF 1 0 0 0 0 1
NF2 0 0 1 0 0 1
NFIA 0 1 0 0 0 1
NHLRC1 1 0 0 0 0 1
NKAP 0 0 1 0 0 1
NKX2-1, SFTA3 0 0 1 0 0 1
NLRP12 0 1 0 0 0 1
NR1D1, THRA 1 0 0 0 0 1
NR2F1 1 0 0 0 0 1
NR5A1 0 1 0 0 0 1
OCRL 0 1 0 0 0 1
OFD1, TRAPPC2 1 0 0 0 0 1
OPN1LW 1 0 0 0 0 1
PACS2 1 0 0 0 0 1
PAFAH1B1 1 0 0 0 0 1
PCCB 1 0 0 0 0 1
PDE6B 0 1 0 0 0 1
PDE6G 0 0 1 0 0 1
PDHA1 0 1 0 0 0 1
PDHX 1 0 0 0 0 1
PEX1 1 0 0 0 0 1
PEX10 1 0 0 0 0 1
PEX12 0 1 0 0 0 1
PEX2 1 0 0 0 0 1
PHEX 0 1 0 0 0 1
PHF6 1 0 0 0 0 1
PHKA2 1 0 0 0 0 1
PKD1L1 0 1 0 0 0 1
PKD2 1 0 0 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PLS3 0 0 1 0 0 1
PMP22 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3B 1 0 0 0 0 1
POGZ 1 0 0 0 0 1
POLR2A 0 1 0 0 0 1
POMGNT1 1 0 0 0 0 1
POMT1 1 0 0 0 0 1
POU3F4 0 0 1 0 0 1
PPM1D 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 1
PRDM5 1 0 0 0 0 1
PROKR2 0 1 0 0 0 1
PRR12 0 1 0 0 0 1
RAB11B 1 0 0 0 0 1
RAG1 0 0 1 0 0 1
RARB 1 0 0 0 0 1
RASA1 0 1 0 0 0 1
RB1 1 0 0 0 0 1
RNASEH2A 1 0 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RNF213 0 1 0 0 0 1
RP2 0 1 0 0 0 1
RPL11 1 0 0 0 0 1
RPS26 1 0 0 0 0 1
RPS6KA3 1 0 0 0 0 1
RUNX2 1 0 0 0 0 1
SCN1A, SCN7A, SCN9A 1 0 0 0 0 1
SDHB 0 1 0 0 0 1
SET 1 0 0 0 0 1
SETD2 0 0 1 0 0 1
SETD5 0 1 0 0 0 1
SF3B1 0 0 1 0 0 1
SGCA 1 0 0 0 0 1
SGCG 1 0 0 0 0 1
SH3BP2 1 0 0 0 0 1
SHANK3 0 1 0 0 0 1
SHH 0 0 1 0 0 1
SHOC2 1 0 0 0 0 1
SIX3 1 0 0 0 0 1
SKI 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 1
SLC29A3 1 0 0 0 0 1
SLC45A2 0 1 0 0 0 1
SLC4A1 1 0 0 0 0 1
SLC52A2 1 0 0 0 0 1
SLCO1B1, SLCO1B3, SLCO1B7 0 1 0 0 0 1
SMCHD1 0 1 0 0 0 1
SNHG14, UBE3A 0 1 0 0 0 1
SOS2 0 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 1
SPEN 0 1 0 0 0 1
SPOP 0 0 0 1 0 1
SPRED1 1 0 0 0 0 1
SPTA1 0 1 0 0 0 1
SSR4 0 1 0 0 0 1
STIM1 0 1 0 0 0 1
STS 0 1 0 0 0 1
SUZ12 1 0 0 0 0 1
TAOK1 0 1 0 0 0 1
TBX1 0 0 1 0 0 1
TCF12 0 1 0 0 0 1
TCF4 0 1 0 0 0 1
TCIRG1 0 1 0 0 0 1
TFE3 1 0 0 0 0 1
TGFB3 0 0 1 0 0 1
TGFBI 0 1 0 0 0 1
TGFBR1 1 0 0 0 0 1
TGFBR2 1 0 0 0 0 1
THPO 0 1 0 0 0 1
TMEM106B 0 1 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TMPRSS6 0 1 0 0 0 1
TNC 0 0 1 0 0 1
TNFRSF13B 0 1 0 0 0 1
TOR1A 1 0 0 0 0 1
TP63 0 1 0 0 0 1
TPM1 0 1 0 0 0 1
TRPV6 0 1 0 0 0 1
TSC2 0 0 1 0 0 1
TTC21B 0 1 0 0 0 1
TUBB 0 1 0 0 0 1
TUBB2B 1 0 0 0 0 1
TUBB3 1 0 0 0 0 1
TULP1 1 0 0 0 0 1
VWF 1 0 0 0 0 1
WDR73 0 1 0 0 0 1
WNK4 0 0 1 0 0 1
WNT1 0 1 0 0 0 1
WNT10A 0 0 1 0 0 1
XK 1 0 0 0 0 1
XPC 0 1 0 0 0 1
ZFPM2 0 1 0 0 0 1
ZFYVE26 1 0 0 0 0 1
ZNF142 0 1 0 0 0 1
ZNF462 0 1 0 0 0 1
ZNF699 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 674
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign affects total
Neurofibromatosis, type 1 76 18 5 0 0 99
Duchenne muscular dystrophy 63 31 0 0 0 94
Congenital myotonia, autosomal recessive form 11 9 5 0 1 26
Marfan syndrome 11 11 3 1 0 26
Phenylketonuria 18 1 0 0 0 19
Cystic fibrosis 12 6 0 0 0 18
Becker muscular dystrophy 3 6 5 0 0 14
Central core myopathy 4 5 4 0 0 13
Polycystic kidney disease 4 7 5 1 0 0 13
Sotos syndrome 9 2 1 1 0 13
Beta-thalassemia HBB/LCRB 12 0 0 0 0 12
Hereditary spastic paraplegia 4 8 4 0 0 0 12
Usher syndrome type 2A 9 3 0 0 0 12
Wilson disease 7 5 0 0 0 12
Autosomal recessive limb-girdle muscular dystrophy type 2A 9 2 0 0 0 11
Severe myoclonic epilepsy in infancy 9 1 1 0 0 11
Generalized epilepsy with febrile seizures plus, type 2 9 1 0 0 0 10
Noonan syndrome 1 10 0 0 0 0 10
Autosomal recessive nonsyndromic hearing loss 1A 8 1 0 0 0 9
Polycystic kidney disease, adult type 4 5 0 0 0 9
Renal carnitine transport defect 5 4 0 0 0 9
X-linked Alport syndrome 5 2 2 0 0 9
Nemaline myopathy 2 3 4 1 0 0 8
Smith-Lemli-Opitz syndrome 6 2 0 0 0 8
Argininosuccinate lyase deficiency 6 1 0 0 0 7
Ataxia-telangiectasia syndrome 6 1 0 0 0 7
Medium-chain acyl-coenzyme A dehydrogenase deficiency 4 3 0 0 0 7
Osteogenesis imperfecta type I 7 0 0 0 0 7
Rett syndrome 6 1 0 0 0 7
Bethlem myopathy 1A 1 3 2 0 0 6
Familial Mediterranean fever 4 2 0 0 0 6
Fanconi anemia complementation group A 4 2 0 0 0 6
Glycogen storage disease, type II 6 0 0 0 0 6
Nephrotic syndrome, type 2 5 1 0 0 0 6
Severe early-childhood-onset retinal dystrophy 5 1 0 0 0 6
Adrenoleukodystrophy 3 2 0 0 0 5
Alstrom syndrome 2 3 0 0 0 5
Bardet-Biedl syndrome 2 1 4 0 0 0 5
Charlevoix-Saguenay spastic ataxia 0 4 1 0 0 5
Hypercholesterolemia, familial, 1 3 1 1 0 0 5
Kabuki syndrome 1 4 1 0 0 0 5
Mucolipidosis type II 2 3 0 0 0 5
Mucopolysaccharidosis, MPS-III-B 5 0 0 0 0 5
Niemann-Pick disease, type C1 2 3 0 0 0 5
Spondyloperipheral dysplasia 3 1 1 0 0 5
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 4 0 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 2 2 2 0 0 0 4
Bardet-Biedl syndrome 1 3 1 0 0 0 4
CHARGE syndrome 4 0 0 0 0 4
Cohen syndrome 3 1 0 0 0 4
Developmental and epileptic encephalopathy, 14 1 3 0 0 0 4
Dilated cardiomyopathy 1S 0 2 2 0 0 4
Elevated circulating creatine kinase concentration 2 2 0 0 0 4
Familial hypokalemia-hypomagnesemia 3 1 0 0 0 4
GNE myopathy 3 1 0 0 0 4
Galactosylceramide beta-galactosidase deficiency 3 1 0 0 0 4
Glycine encephalopathy 2 4 0 0 0 0 4
Goldberg-Shprintzen syndrome 2 2 0 0 0 4
Hypertrophic cardiomyopathy 4 1 2 1 0 0 4
Hypokalemic periodic paralysis, type 1 1 2 1 0 0 4
Mucopolysaccharidosis, MPS-III-C 2 2 0 0 0 4
PMM2-congenital disorder of glycosylation 4 0 0 0 0 4
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 3 1 0 0 0 4
Sandhoff disease 3 1 0 0 0 4
Severe X-linked myotubular myopathy 2 2 0 0 0 4
Ullrich congenital muscular dystrophy 1A 2 2 0 0 0 4
Very long chain acyl-CoA dehydrogenase deficiency 4 0 0 0 0 4
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 1 0 0 0 3
Aniridia 1 3 0 0 0 0 3
Autosomal dominant centronuclear myopathy 3 0 0 0 0 3
Autosomal recessive congenital ichthyosis 1 2 1 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 2 0 0 0 3
Biotinidase deficiency 2 1 0 0 0 3
Brain small vessel disease 1 with or without ocular anomalies 2 1 0 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 1 0 0 3
Cholestanol storage disease 2 1 0 0 0 3
Cholesteryl ester storage disease 2 1 0 0 0 3
Citrullinemia type I 3 0 0 0 0 3
Classic homocystinuria 3 0 0 0 0 3
Congenital multicore myopathy with external ophthalmoplegia 0 3 0 0 0 3
Congenital muscular dystrophy due to LMNA mutation 2 1 0 0 0 3
Deficiency of butyryl-CoA dehydrogenase 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 1 2 1 0 0 0 3
Developmental and epileptic encephalopathy, 2 3 0 0 0 0 3
Developmental and epileptic encephalopathy, 4 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 9 3 0 0 0 0 3
Dilated cardiomyopathy 3B 2 0 1 0 0 3
Ellis-van Creveld syndrome 1 2 0 0 0 3
Epidermolysis bullosa, junctional 2A, intermediate 2 1 0 0 0 3
GNPTG-mucolipidosis 2 1 0 0 0 3
Gamma-aminobutyric acid transaminase deficiency 0 2 1 0 0 3
Gaucher disease type I 3 0 0 0 0 3
Glutamate pyruvate transaminase 2 deficiency 0 3 0 0 0 3
Glycine encephalopathy 1 1 2 0 0 0 3
Glycogen storage disease type III 1 2 0 0 0 3
Hereditary fructosuria 3 0 0 0 0 3
Hereditary spherocytosis type 2 2 1 0 0 0 3
Hypohidrotic X-linked ectodermal dysplasia 2 1 0 0 0 3
Infantile GM1 gangliosidosis 2 1 0 0 0 3
Infantile convulsions and choreoathetosis 3 0 0 0 0 3
Intellectual developmental disorder with seizures and language delay 1 0 2 0 0 3
Intellectual disability, X-linked 99 0 1 1 1 0 3
Intellectual disability, autosomal dominant 5 3 0 0 0 0 3
LEOPARD syndrome 1 2 0 1 0 0 3
Maple syrup urine disease type 1B 2 1 0 0 0 3
Maple syrup urine disease type 2 1 2 0 0 0 3
Microcephaly, normal intelligence and immunodeficiency 2 1 0 0 0 3
Mucopolysaccharidosis, MPS-IV-A 2 1 0 0 0 3
Myopathy, proximal, and ophthalmoplegia 2 1 0 0 0 3
Nephronophthisis 4 1 2 0 0 0 3
Noonan syndrome 4 2 0 1 0 0 3
Noonan syndrome 8 2 1 0 0 0 3
Oculocutaneous albinism type 1A 2 1 0 0 0 3
Pendred syndrome 3 0 0 0 0 3
Peroxisome biogenesis disorder 4A (Zellweger) 1 2 0 0 0 3
Primary hyperoxaluria type 3 2 1 0 0 0 3
Primary hyperoxaluria, type I 3 0 0 0 0 3
Recessive dystrophic epidermolysis bullosa 3 0 0 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 0 3 0 0 0 3
Telangiectasia, hereditary hemorrhagic, type 2 2 1 0 0 0 3
Tuberous sclerosis 1 1 1 1 0 0 3
Usher syndrome type 1C 0 3 0 0 0 3
Usher syndrome type 1D 0 3 0 0 0 3
X-linked Opitz G/BBB syndrome 0 3 0 0 0 3
3M syndrome 1 1 1 0 0 0 2
Achromatopsia 3 2 0 0 0 0 2
Acyl-CoA dehydrogenase 9 deficiency 2 0 0 0 0 2
Alkaptonuria 2 0 0 0 0 2
Ataxia-hypogonadism-choroidal dystrophy syndrome 1 1 0 0 0 2
Autosomal dominant Alport syndrome 0 2 0 0 0 2
Autosomal dominant optic atrophy classic form 2 0 0 0 0 2
Autosomal recessive Alport syndrome 0 2 0 0 0 2
Autosomal recessive DOPA responsive dystonia 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 2 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 2 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2M 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 1 0 0 0 2
Autosomal recessive multiple pterygium syndrome 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 21 1 0 1 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 0 2
Bartter disease type 1 0 2 0 0 0 2
Benign familial hematuria 1 0 1 0 0 2
Birt-Hogg-Dube syndrome 1 0 1 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 1 0 0 0 2
Bloom syndrome 2 0 0 0 0 2
CLAPO syndrome 2 0 0 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 2 0 0 2
Cardiofaciocutaneous syndrome 1 2 0 0 0 0 2
Cardiofaciocutaneous syndrome 3 1 1 0 0 0 2
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 2 0 0 2
Charcot-Marie-Tooth disease type 4C 2 0 0 0 0 2
Chylomicron retention disease 1 1 0 0 0 2
Clark-Baraitser syndrome 1 0 1 0 0 2
Cleidocranial dysostosis 1 1 0 0 0 2
Congenital contractural arachnodactyly 0 2 0 0 0 2
Congenital myasthenic syndrome 11 1 1 0 0 0 2
Congenital myasthenic syndrome 13 0 2 0 0 0 2
Congenital myopathy 23 1 1 0 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 0 2
Creatine transporter deficiency 0 2 0 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 0 2
Deficiency of galactokinase 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 11 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 13 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 34 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 59 0 1 0 1 0 2
Developmental and epileptic encephalopathy, 67 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 7 0 2 0 0 0 2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 2 0 0 2
Dilated cardiomyopathy 1D 0 2 0 0 0 2
Donnai-Barrow syndrome 0 0 0 2 0 2
Ehlers-Danlos syndrome, arthrochalasia type, 2 1 0 1 0 0 2
Ehlers-Danlos syndrome, classic type, 1 1 1 0 0 0 2
Epilepsy, familial focal, with variable foci 1 2 0 0 0 0 2
Exostoses, multiple, type 1 2 0 0 0 0 2
FOXG1 disorder 2 0 0 0 0 2
Fanconi anemia complementation group C 2 0 0 0 0 2
Fanconi anemia complementation group D1 1 1 0 0 0 2
Finnish congenital nephrotic syndrome 1 1 0 0 0 2
Floating-Harbor syndrome 2 0 0 0 0 2
Fructose-biphosphatase deficiency 1 1 0 0 0 2
Glucose-6-phosphate transport defect 1 1 0 0 0 2
Glutaric aciduria, type 1 2 0 0 0 0 2
Glycogen storage disease, type V 1 1 0 0 0 2
Gorlin syndrome 1 0 1 0 0 2
Greig cephalopolysyndactyly syndrome 1 1 0 0 0 2
HNSHA due to aldolase A deficiency 0 2 0 0 0 2
Hereditary cryohydrocytosis with reduced stomatin 0 0 2 0 0 2
Holocarboxylase synthetase deficiency 1 1 0 0 0 2
Holoprosencephaly 2 1 1 0 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 2 0 0 2
Infantile hypophosphatasia 2 0 0 0 0 2
Infantile onset spinocerebellar ataxia 2 0 0 0 0 2
Intellectual disability, X-linked 102 2 0 0 0 0 2
Intellectual disability, X-linked, syndromic, Bain type 2 0 0 0 0 2
Intellectual disability, autosomal dominant 43 0 1 1 0 0 2
Intellectual disability, autosomal dominant 6 2 0 0 0 0 2
Joubert syndrome 17 2 0 0 0 0 2
Joubert syndrome 28 1 1 0 0 0 2
Junctional epidermolysis bullosa gravis of Herlitz 2 0 0 0 0 2
Junctional epidermolysis bullosa with pyloric atresia 2 0 0 0 0 2
KBG syndrome 2 0 0 0 0 2
Kleefstra syndrome 1 2 0 0 0 0 2
Koolen-de Vries syndrome 2 0 0 0 0 2
Leber congenital amaurosis 1 2 0 0 0 0 2
Leber hereditary optic neuropathy, autosomal recessive 1 1 0 0 0 2
Loeys-Dietz syndrome 4 2 0 0 0 0 2
Long QT syndrome 1 1 1 0 0 0 2
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2 0 0 0 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 2 0 0 2
Malignant hyperthermia, susceptibility to, 1 1 1 0 0 0 2
Meckel syndrome, type 1 0 2 0 0 0 2
Meckel syndrome, type 4 2 0 0 0 0 2
Meier-Gorlin syndrome 2 1 1 0 0 0 2
Melnick-Needles syndrome 1 1 0 0 0 2
Menkes kinky-hair syndrome 1 0 0 1 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 0 0 0 0 2
Miyoshi muscular dystrophy 3 1 1 0 0 0 2
Mucopolysaccharidosis, MPS-III-A 2 0 0 0 0 2
Multicentric osteolysis nodulosis arthropathy spectrum 0 2 0 0 0 2
Multiple cutaneous and mucosal venous malformations 0 2 0 0 0 2
Multiple epiphyseal dysplasia type 4 1 1 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 2 0 0 0 2
Myhre syndrome 2 0 0 0 0 2
Nephropathic cystinosis 0 2 0 0 0 2
Netherton syndrome 1 1 0 0 0 2
Neurodevelopmental disorder with involuntary movements 0 1 1 0 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 2 0 2 0 0 0 2
Niemann-Pick disease, type A 2 0 0 0 0 2
Noonan syndrome 3 1 1 0 0 0 2
Noonan syndrome-like disorder with loose anagen hair 2 1 1 0 0 0 2
Orofaciodigital syndrome V 0 1 1 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 2 0 0 0 0 2
Oto-palato-digital syndrome, type I 0 0 2 0 0 2
Peroxisome biogenesis disorder 9B 1 1 0 0 0 2
Pituitary hormone deficiency, combined, 2 2 0 0 0 0 2
Platelet-type bleeding disorder 10 1 1 0 0 0 2
Poirier-Bienvenu neurodevelopmental syndrome 2 0 0 0 0 2
Polydactyly, postaxial, type a7 1 1 0 0 0 2
Polyglandular autoimmune syndrome, type 1 1 1 0 0 0 2
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 2 0 0 0 2
Primary ciliary dyskinesia 7 0 0 2 0 0 2
Prolidase deficiency 2 0 0 0 0 2
Pyruvate dehydrogenase E3 deficiency 1 1 0 0 0 2
Pyruvate kinase deficiency of red cells 0 2 0 0 0 2
Retinitis pigmentosa 25 1 1 0 0 0 2
Severe combined immunodeficiency due to DCLRE1C deficiency 1 1 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 1 0 0 0 2
Shwachman-Diamond syndrome 1 2 0 0 0 0 2
Sifrim-Hitz-Weiss syndrome 0 1 1 0 0 2
Sjögren-Larsson syndrome 1 1 0 0 0 2
Snijders Blok-Campeau syndrome 1 1 0 0 0 2
Spinocerebellar ataxia type 35 1 1 0 0 0 2
Spondylometaphyseal dysplasia, Kozlowski type 2 0 0 0 0 2
Stickler syndrome type 1 1 1 0 0 0 2
Syndactyly-telecanthus-anogenital and renal malformations syndrome 2 0 0 0 0 2
Tay-Sachs disease 1 1 0 0 0 2
Trichorhinophalangeal dysplasia type I 1 1 0 0 0 2
Vitamin D-dependent rickets, type 1A 1 1 0 0 0 2
Waardenburg syndrome type 1 1 1 0 0 0 2
Wolfram syndrome 1 2 0 0 0 0 2
X-linked cone-rod dystrophy 1 2 0 0 0 0 2
X-linked ichthyosis with steryl-sulfatase deficiency 1 1 0 0 0 2
Xeroderma pigmentosum group A 1 1 0 0 0 2
Zimmermann-Laband syndrome 2 1 1 0 0 0 2
not provided 2 0 0 0 0 2
11q partial monosomy syndrome 1 0 0 0 0 1
15q11q13 microduplication syndrome 1 0 0 0 0 1
17p11.2 microduplication syndrome 1 0 0 0 0 1
3-methylglutaconic aciduria type 5 1 0 0 0 0 1
46,XY sex reversal 11 1 0 0 0 0 1
46,XY sex reversal 9 0 1 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 0 1
AFF3-related neurodevelopmental disorders 1 0 0 0 0 1
ATP6V1B2 related neurodevelopmental disorders 1 0 0 0 0 1
Aarskog syndrome 0 1 0 0 0 1
Achondroplasia 0 0 1 0 0 1
Acromesomelic dysplasia 1, Maroteaux type 0 1 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 0 1
Aicardi-Goutieres syndrome 3 0 1 0 0 0 1
Aicardi-Goutieres syndrome 4 1 0 0 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 1 0 0 0 1
Alexander disease 1 0 0 0 0 1
Alport syndrome 3b, autosomal recessive 0 1 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 1
Angelman syndrome 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 10 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 0 1
Autistic behavior 1 0 0 0 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 0 1
Autosomal dominant distal renal tubular acidosis 1 0 0 0 0 1
Autosomal dominant hypocalcemia 1 0 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 1
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 70 0 0 1 0 0 1
Autosomal dominant osteopetrosis 2 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2K 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O 1 0 0 0 0 1
Autosomal recessive osteopetrosis 1 0 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 1
Bardet-Biedl syndrome 12 0 1 0 0 0 1
Bardet-Biedl syndrome 5 1 0 0 0 0 1
Bartter disease type 3 1 0 0 0 0 1
Beckwith-Wiedemann syndrome 1 0 0 0 0 1
Benign hereditary chorea 0 0 1 0 0 1
Bethlem myopathy 1B 1 0 0 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 1
Blepharophimosis-impaired intellectual development syndrome 1 0 0 0 0 1
Bohring-Opitz syndrome 0 0 0 1 0 1
Bone mineral density quantitative trait locus 18 0 0 1 0 0 1
Boomerang dysplasia 0 0 0 1 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 0 1
Brachydactyly type B2 1 0 0 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 1 0 0 0 0 1
Brittle cornea syndrome 2 1 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 1 0 0 0 0 1
Bruck syndrome 1 1 0 0 0 0 1
Brugada syndrome 1 0 0 1 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 1 0 0 0 1
CAPRIN1-related neurodevelopmental disorders 1 0 0 0 0 1
CBL-related disorder 1 0 0 0 0 1
Capillary malformation-arteriovenous malformation 1 0 1 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 1 0 0 0 0 1
Cataract 3 multiple types 1 0 0 0 0 1
Cataract 9 multiple types 1 0 0 0 0 1
Catifa syndrome 0 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 1
Chilblain lupus 1 0 1 0 0 0 1
Cholestasis 1 0 0 0 0 1
Choroideremia 0 1 0 0 0 1
Chromosome 15q11.2 deletion syndrome 1 0 0 0 0 1
Chromosome 1q21.1 duplication syndrome 1 0 0 0 0 1
Chromosome 2q37 deletion syndrome 1 0 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Cockayne syndrome type 2 0 1 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 0 0 0 1
Combined immunodeficiency, X-linked 0 1 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 7 1 0 0 0 0 1
Cone monochromatism 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 0 1
Congenital hyperammonemia, type I 0 1 0 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 1 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 0 1
Congenital nongoitrous hypothyroidism 6 1 0 0 0 0 1
Congenital reticular ichthyosiform erythroderma 1 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Costello syndrome 1 0 0 0 0 1
Crouzon syndrome 1 0 0 0 0 1
DEGCAGS syndrome 1 0 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 0 1
Deficiency of alpha-mannosidase 0 1 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 0 0 0 1 0 1
Developmental and epileptic encephalopathy 99 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 87 1 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 0 0 1
DiGeorge syndrome 0 0 1 0 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 0 1
Diamond-Blackfan anemia 10 1 0 0 0 0 1
Diamond-Blackfan anemia 7 1 0 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 1
Dilated cardiomyopathy 1G 1 0 0 0 0 1
Dilated cardiomyopathy 1P 1 0 0 0 0 1
Dilated cardiomyopathy 1Y 0 1 0 0 0 1
EAST syndrome 0 1 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 0 0 1
Enterokinase deficiency 1 0 0 0 0 1
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 1 0 0 0 0 1
Epidermolysis bullosa, junctional 3B, severe 0 1 0 0 0 1
Euthyroid goiter 1 0 0 0 0 1
Facioscapulohumeral muscular dystrophy 2 0 1 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 0 1
Familial cold autoinflammatory syndrome 2 0 1 0 0 0 1
Familial dysfibrinogenemia 1 0 0 0 0 1
Familial hypobetalipoproteinemia 1 1 0 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 1 0 0 0 1
Fanconi anemia complementation group L 1 0 0 0 0 1
Fibrous dysplasia of jaw 1 0 0 0 0 1
Freeman-Sheldon syndrome 1 0 0 0 0 1
Galloway-Mowat syndrome 1 0 1 0 0 0 1
Gillespie syndrome 0 1 0 0 0 1
Glaucoma 1, open angle, A 1 0 0 0 0 1
Glomuvenous malformation 1 0 0 0 0 1
Glycogen storage disease IXa1 1 0 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 0 1 0 0 0 1
H syndrome 1 0 0 0 0 1
HNF1B-related disorder 1 0 0 0 0 1
HP:0000729 Autistic spectrum disorder 0 0 1 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 0 1
Hearing loss, autosomal dominant 37 0 1 0 0 0 1
Hearing loss, autosomal recessive 111 1 0 0 0 0 1
Hereditary spastic paraplegia 15 1 0 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 50 0 0 1 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 0 1
Hereditary spastic paraplegia 73 0 1 0 0 0 1
Hereditary spherocytosis type 3 0 1 0 0 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 1
Heterotaxy, visceral, 8, autosomal 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 1
Histiocytic medullary reticulosis 0 0 1 0 0 1
Holoprosencephaly 3 0 0 1 0 0 1
Houge-Janssens syndrome 1 1 0 0 0 0 1
Houge-Janssens syndrome 3 1 0 0 0 0 1
Hutchinson-Gilford syndrome 1 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 1 0 0 0 1
Hyperinsulinemic hypoglycemia, familial, 3 0 0 1 0 0 1
Hyperparathyroidism 4 0 1 0 0 0 1
Hyperparathyroidism, transient neonatal 0 1 0 0 0 1
Hyperpigmentation with or without hypopigmentation, familial progressive 0 0 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 0 1 0 0 0 1
Hypertrophic cardiomyopathy 1 1 0 0 0 0 1
Hypochondroplasia 1 0 0 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 26 with or without anosmia 0 1 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 0 0 1
Ichthyosis vulgaris 0 1 0 0 0 1
Imagawa-Matsumoto syndrome 1 0 0 0 0 1
Immunodeficiency 36 with lymphoproliferation 1 0 0 0 0 1
Immunodeficiency 61 0 0 1 0 0 1
Immunodeficiency, common variable, 2 0 1 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 0 1 0 0 0 1
Infantile cortical hyperostosis 1 0 0 0 0 1
Inflammatory bowel disease 1 0 1 0 0 0 1
Inflammatory bowel disease 25 1 0 0 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 0 1
Intellectual developmental disorder with hypertelorism and distinctive facies 0 0 1 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 0 0 1 0 1
Intellectual developmental disorder with severe speech and ambulation defects 1 0 0 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 49 1 0 0 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 0 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 0 1
Intellectual disability, autosomal dominant 45 1 0 0 0 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 0 1
Intellectual disability, autosomal dominant 54 0 0 0 1 0 1
Intellectual disability, autosomal dominant 58 1 0 0 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 0 1
Intellectual disability, autosomal recessive 66 0 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 0 1 0 0 1
Iron-refractory iron deficiency anemia 0 1 0 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Jaberi-Elahi syndrome 1 0 0 0 0 1
Juvenile retinoschisis 1 0 0 0 0 1
KCNT1-related channelopathy 1 0 0 0 0 1
KINSSHIP syndrome 1 0 0 0 0 1
Kabuki syndrome 2 1 0 0 0 0 1
Kindler syndrome 1 0 0 0 0 1
Kleefstra syndrome 2 1 0 0 0 0 1
Klinefelter syndrome 1 0 0 0 0 1
Kostmann syndrome 0 1 0 0 0 1
Lafora disease 1 0 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 1
Leber congenital amaurosis 15 1 0 0 0 0 1
Legius syndrome 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 16 0 1 0 0 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 1 0 0 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 0 1
Loeys-Dietz syndrome 1 1 0 0 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 1
Long QT syndrome 2 0 0 1 0 0 1
Long QT syndrome 3 0 1 0 0 0 1
Lowe syndrome 0 1 0 0 0 1
Luscan-Lumish syndrome 0 0 1 0 0 1
MPI-congenital disorder of glycosylation 1 0 0 0 0 1
Macular degeneration, age-related, 3 0 0 1 0 0 1
Malan overgrowth syndrome 0 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Maple syrup urine disease type 1A 1 0 0 0 0 1
Marshall-Smith syndrome 0 0 1 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 1 0 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 0 1
Microphthalmia, syndromic 12 1 0 0 0 0 1
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 1 0 0 0 0 1
Migraine, familial hemiplegic, 2 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 1 1 0 0 0 0 1
Monocytopenia with susceptibility to infections 1 0 0 0 0 1
Mosaic variegated aneuploidy syndrome 1 1 0 0 0 0 1
Moyamoya disease 2 0 1 0 0 0 1
Mucolipidosis type IV 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 1 0 0 0 1
Myelodysplastic syndrome 0 0 1 0 0 1
Myoclonic dystonia 11 1 0 0 0 0 1
Myopathy, reducing body, X-linked, early-onset, severe 0 1 0 0 0 1
Myopathy, tubular aggregate, 1 0 1 0 0 0 1
Myosin storage myopathy 1 0 0 0 0 1
NOG-related disorder 1 0 0 0 0 1
Nephronophthisis 12 0 1 0 0 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 1 0 0 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 0 0 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 0 0 1 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 0 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 1 0 0 0 1
Neuroocular syndrome 1 0 1 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 1
Noonan syndrome 10 1 0 0 0 0 1
Noonan syndrome 13 0 1 0 0 0 1
Noonan syndrome 9 0 0 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 0 1
Oculocutaneous albinism type 4 0 1 0 0 0 1
Ogden syndrome 0 1 0 0 0 1
Osteogenesis imperfecta type 15 0 1 0 0 0 1
Osteogenesis imperfecta type 5 1 0 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 0 1
PCDH19-related epilespy 0 1 0 0 0 1
PNPO-related disorder 0 1 0 0 0 1
Palmoplantar keratoderma, epidermolytic 1 0 0 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder 3A (Zellweger) 0 1 0 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder 6A (Zellweger) 1 0 0 0 0 1
Phelan-McDermid syndrome 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 0 1 0 0 0 1
Piebaldism 1 0 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 0 1 0 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 0 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Premature chromatid separation trait 1 0 0 0 0 1
Premature ovarian failure 14 0 1 0 0 0 1
Premature ovarian failure 7 0 1 0 0 0 1
Primary ciliary dyskinesia 0 1 0 0 0 1
Primary hyperoxaluria, type II 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 2 1 0 0 0 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 0 0 1
Propionic acidemia 1 0 0 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 0 1
Pseudohypoparathyroidism type I A 0 1 0 0 0 1
Pseudopseudohypoparathyroidism 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 1 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 1
Radio-Tartaglia syndrome 0 1 0 0 0 1
Reis-Bucklers' corneal dystrophy 0 1 0 0 0 1
Renal cysts and diabetes syndrome 1 0 0 0 0 1
Retinitis pigmentosa 2 0 1 0 0 0 1
Retinitis pigmentosa 38 1 0 0 0 0 1
Retinitis pigmentosa 40 0 1 0 0 0 1
Retinitis pigmentosa 49 0 0 1 0 0 1
Retinitis pigmentosa 57 0 0 1 0 0 1
Retinitis pigmentosa 90 1 0 0 0 0 1
Retinoblastoma 1 0 0 0 0 1
Rotor syndrome 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 0 1
SCN1A-related channelopathy 0 1 0 0 0 1
SHORT syndrome 1 0 0 0 0 1
SMARCB1-related schwannomatosis 1 0 0 0 0 1
SSR4-congenital disorder of glycosylation 0 1 0 0 0 1
SYNGAP1-related encephalopathy 1 0 0 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 1
Seizures, benign familial neonatal, 1 1 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 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 0 0 1
Short stature with nonspecific skeletal abnormalities 0 0 1 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 1 0 0 0 1
Shprintzen-Goldberg syndrome 1 0 0 0 0 1
Sialic acid storage disease, severe infantile type 1 0 0 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 1 0 0 0 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 1 0 0 1
Spinocerebellar ataxia type 10 0 0 1 0 0 1
Spinocerebellar ataxia type 15/16 0 1 0 0 0 1
Split hand-foot malformation 4 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Maroteaux type 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 1 0 0 0 0 1
Spondyloepiphyseal dysplasia congenita 0 1 0 0 0 1
Spongy degeneration of central nervous system 1 0 0 0 0 1
Stickler syndrome type 2 0 0 1 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 0 0 0 1
Stüve-Wiedemann syndrome 1 1 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 0 1
Syndromic multisystem autoimmune disease due to ITCH deficiency 1 0 0 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 0 1
Teebi hypertelorism syndrome 1 0 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 1
Thrombocytopenia 1 0 1 0 0 0 1
Thrombocytopenia 12 with or without myopathy 1 0 0 0 0 1
Thrombocytopenia 4 0 0 1 0 0 1
Thrombocytopenia 9 0 1 0 0 0 1
Tooth agenesis, selective, 4 0 0 1 0 0 1
Trigonocephaly 1 0 0 1 0 0 1
Trigonocephaly 2 0 0 1 0 0 1
Tuberous sclerosis 2 0 0 1 0 0 1
Tyrosinemia type I 1 0 0 0 0 1
WDR73-related disorder 1 0 0 0 0 1
Warsaw breakage syndrome 1 0 0 0 0 1
Weiss-Kruszka syndrome 0 1 0 0 0 1
White-Kernohan syndrome 0 0 0 1 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
Williams syndrome 1 0 0 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 1 0 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 0 1
X-linked cone-rod dystrophy 3 1 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus 0 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 0 0 1
X-linked sideroblastic anemia 1 0 1 0 0 0 1
XK-related neurodegenerative disease 1 0 0 0 0 1
Xeroderma pigmentosum, group C 0 1 0 0 0 1
von Willebrand disease type 1 1 0 0 0 0 1

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