ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Location: Saudi Arabia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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 total
279 363 246 1 6 895

Gene and significance breakdown #

Total genes and gene combinations: 690
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTPN11 7 0 0 0 0 7
ARID1B 2 4 0 0 0 6
ASPM 2 3 1 0 0 6
PKD1 2 0 4 0 0 6
TTN 1 3 2 0 0 6
GAA 3 1 1 0 0 5
RFXANK 2 1 2 0 0 5
ACADVL 0 3 1 0 0 4
BRCA2 2 1 0 0 1 4
G6PD 4 0 0 0 0 4
LDLR 1 2 0 0 1 4
NF1 2 1 1 0 0 4
TUBA1A 2 2 0 0 0 4
ABCB11 2 1 0 0 0 3
ASNS, CZ1P-ASNS 1 1 1 0 0 3
ATP7B 3 0 0 0 0 3
CIT 0 0 3 0 0 3
CNGA3 2 0 1 0 0 3
CPLANE1 2 1 0 0 0 3
CTNNB1 1 2 0 0 0 3
DHCR7 2 0 1 0 0 3
DNAH5 0 1 2 0 0 3
GALT 1 2 0 0 0 3
GRIN2B 0 2 1 0 0 3
HEXB 3 0 0 0 0 3
KCNQ1 1 0 2 0 0 3
LAMA2 1 2 0 0 0 3
MPDZ 1 1 1 0 0 3
MYO7A 1 2 0 0 0 3
NALCN 0 2 1 0 0 3
NPR2, SPAG8 0 2 1 0 0 3
PKHD1 1 1 1 0 0 3
PMS2 1 1 1 0 0 3
SAMHD1 0 2 1 0 0 3
AAAS 1 0 1 0 0 2
ADNP 0 2 0 0 0 2
AGK 1 1 0 0 0 2
AGL 1 0 1 0 0 2
AIRE 1 1 0 0 0 2
ALDOB 1 1 0 0 0 2
ANKRD11 1 1 0 0 0 2
ANKRD26 0 1 1 0 0 2
ARSB 1 1 0 0 0 2
ASS1 2 0 0 0 0 2
ATF6 0 2 0 0 0 2
ATP8A2 0 2 0 0 0 2
BBS9 1 1 0 0 0 2
BCKDHA 2 0 0 0 0 2
BTD 1 1 0 0 0 2
C12orf57 2 0 0 0 0 2
C2CD3 0 0 2 0 0 2
CBL 0 2 0 0 0 2
CBS 1 1 0 0 0 2
CCDC40 0 2 0 0 0 2
CCN6 1 0 1 0 0 2
CEL 0 2 0 0 0 2
CEP164 0 1 1 0 0 2
CEP290 1 1 0 0 0 2
CFTR 1 1 0 0 0 2
CHD7 0 1 1 0 0 2
CLN5 1 0 1 0 0 2
CLN8 0 2 0 0 0 2
COL2A1 1 1 0 0 0 2
COL4A1 1 1 0 0 0 2
COL6A2 1 0 1 0 0 2
COL6A3 0 0 2 0 0 2
COQ8A 0 1 1 0 0 2
CPT2 1 0 1 0 0 2
CUL7 1 0 1 0 0 2
CYP1B1 1 1 0 0 0 2
CYP27B1 2 0 0 0 0 2
CYP4F22 1 0 1 0 0 2
DDX59 1 1 0 0 0 2
DLD 1 1 0 0 0 2
DSP 0 1 1 0 0 2
EBF3 0 2 0 0 0 2
ECEL1 2 0 0 0 0 2
ELAC2 1 0 1 0 0 2
FBN1 0 2 0 0 0 2
FGFR3 2 0 0 0 0 2
FKRP 1 1 0 0 0 2
FRAS1 0 2 0 0 0 2
GALNS 1 1 0 0 0 2
GNE 1 1 0 0 0 2
GUSB 2 0 0 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 0 2
HSD11B2 0 1 1 0 0 2
IHH 0 1 1 0 0 2
INPP5E 1 1 0 0 0 2
KATNIP 0 2 0 0 0 2
KCNA2 1 1 0 0 0 2
KCNB1 1 1 0 0 0 2
KCNQ2 0 1 1 0 0 2
KIAA0586 0 2 0 0 0 2
KIF11 0 1 1 0 0 2
KNL1 0 1 1 0 0 2
LACC1 0 2 0 0 0 2
LARP7, MIR302CHG 1 1 0 0 0 2
LOC106029312, NCF1 2 0 0 0 0 2
LOC126862264, MEFV 2 0 0 0 0 2
LOC129992813, PKD2 0 2 0 0 0 2
LRBA 0 2 0 0 0 2
LRPPRC 0 2 0 0 0 2
MAP3K7 0 1 1 0 0 2
MMUT 1 1 0 0 0 2
MPIG6B 1 0 1 0 0 2
MRE11 1 0 1 0 0 2
MTHFR 1 0 1 0 0 2
MTMR2 1 0 1 0 0 2
MYH11, NDE1 1 0 0 0 1 2
MYO15A 0 1 1 0 0 2
MYO18B 0 1 1 0 0 2
NDUFS1 0 1 1 0 0 2
OXCT1 1 1 0 0 0 2
P3H1 0 1 1 0 0 2
PCCA 1 0 0 1 0 2
PDHA1 0 1 1 0 0 2
PIEZO2 0 2 0 0 0 2
PIGA 1 0 1 0 0 2
PMM2 1 1 0 0 0 2
PRF1 1 1 0 0 0 2
PRG4 2 0 0 0 0 2
PROKR2 0 2 0 0 0 2
PTEN 1 1 0 0 0 2
RAB3GAP1 1 1 0 0 0 2
RBCK1 0 1 1 0 0 2
RIT1 1 1 0 0 0 2
RUBCN 0 0 2 0 0 2
SELENON 0 0 2 0 0 2
SERAC1 1 1 0 0 0 2
SKIC2 1 1 0 0 0 2
SKIC3 0 1 1 0 0 2
SLC13A5 1 0 1 0 0 2
SLC26A4 1 1 0 0 0 2
SLC37A4 1 1 0 0 0 2
SMAD6 0 1 1 0 0 2
SNHG14, UBE3A 1 0 1 0 0 2
SNX14 0 1 1 0 0 2
SPTA1 0 1 1 0 0 2
TBCD 1 0 1 0 0 2
TBX19 0 1 1 0 0 2
TMPRSS3 1 1 0 0 0 2
TRAPPC11 0 1 1 0 0 2
UNC80 0 2 0 0 0 2
VPS13B 1 1 0 0 0 2
ABCA3 1 0 0 0 0 1
ABCB4 1 0 0 0 0 1
ABCC2 1 0 0 0 0 1
ABCC6 0 0 1 0 0 1
ABCC8 0 0 1 0 0 1
ABCD1 1 0 0 0 0 1
ABCD1, PLXNB3 1 0 0 0 0 1
ABHD14A-ACY1, ACY1 1 0 0 0 0 1
ACADM 1 0 0 0 0 1
ACADS 0 1 0 0 0 1
ACADVL, LOC130060113 1 0 0 0 0 1
ACAN 0 0 1 0 0 1
ACAT1 0 1 0 0 0 1
ACO2 0 0 1 0 0 1
ACTA1 1 0 0 0 0 1
ACTB 0 0 1 0 0 1
ACTL6B 0 1 0 0 0 1
ACVR1 1 0 0 0 0 1
ADA2 0 1 0 0 0 1
ADAT3, SCAMP4 1 0 0 0 0 1
ADGRV1 0 0 1 0 0 1
ADK 0 1 0 0 0 1
AFG2A 1 0 0 0 0 1
AGPAT2 0 1 0 0 0 1
AGXT 1 0 0 0 0 1
AHDC1 0 1 0 0 0 1
AK2 1 0 0 0 0 1
AKR1D1 0 0 1 0 0 1
AKT2 1 0 0 0 0 1
ALMS1 0 1 0 0 0 1
ALOX12B 0 0 1 0 0 1
ALOX12B, LOC130060196 0 1 0 0 0 1
ALPK3 0 1 0 0 0 1
ANTXR2 0 1 0 0 0 1
AP2S1 1 0 0 0 0 1
APC 0 0 0 0 1 1
APOB 1 0 0 0 0 1
AQP2, AQP5 0 1 0 0 0 1
ARHGEF2 0 0 1 0 0 1
ARHGEF9 0 1 0 0 0 1
ARID1A, LOC129929837 0 0 1 0 0 1
ARSA 1 0 0 0 0 1
ARSL 1 0 0 0 0 1
ASH1L 0 0 1 0 0 1
ASIC4, SPEG 0 0 1 0 0 1
ASL 1 0 0 0 0 1
ASXL3 0 1 0 0 0 1
ATAD3A 0 1 0 0 0 1
ATL1 1 0 0 0 0 1
ATM 1 0 0 0 0 1
ATP1A3 1 0 0 0 0 1
ATP8B1 0 1 0 0 0 1
ATRX 0 0 1 0 0 1
AXDND1, NPHS2 1 0 0 0 0 1
BBS4 0 1 0 0 0 1
BCKDHB 0 0 1 0 0 1
BCOR 0 1 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 1 0 0 0 1
BLTP1 0 0 1 0 0 1
BPTF 0 0 1 0 0 1
BRCA1 0 1 0 0 0 1
BRME1, CC2D1A 1 0 0 0 0 1
BRWD3 0 0 1 0 0 1
C1QA 0 0 1 0 0 1
C1QC 1 0 0 0 0 1
C6 0 1 0 0 0 1
CA2 1 0 0 0 0 1
CACNA1E 0 0 1 0 0 1
CACNA1H 0 0 1 0 0 1
CASK 0 1 0 0 0 1
CAV3, OXTR 0 0 1 0 0 1
CC2D1A 0 0 1 0 0 1
CC2D2A 1 0 0 0 0 1
CCDC47 0 1 0 0 0 1
CCDC78 0 1 0 0 0 1
CCDC8 0 1 0 0 0 1
CCDST, FLG2 1 0 0 0 0 1
CCNO 0 1 0 0 0 1
CDH23 0 0 1 0 0 1
CDH3 0 1 0 0 0 1
CDK13 0 1 0 0 0 1
CDKL5 0 1 0 0 0 1
CDKL5, RS1 0 1 0 0 0 1
CDKN1B 0 0 1 0 0 1
CEP152 0 1 0 0 0 1
CERS3 0 0 1 0 0 1
CERT1 0 0 1 0 0 1
CFL2 1 0 0 0 0 1
CHAMP1 0 0 1 0 0 1
CHRNA2 0 0 1 0 0 1
CHRNG, TIGD1 0 1 0 0 0 1
CHST14 0 0 1 0 0 1
CHST3 1 0 0 0 0 1
CIC 0 0 1 0 0 1
CLDN16 1 0 0 0 0 1
CLN6 1 0 0 0 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 1
CNTNAP1, LOC125177481, LOC130060922 0 1 0 0 0 1
CNTNAP2 0 0 1 0 0 1
COG5 0 0 1 0 0 1
COG6 1 0 0 0 0 1
COG7 0 1 0 0 0 1
COL10A1, NT5DC1 0 1 0 0 0 1
COL12A1 0 1 0 0 0 1
COL17A1 0 0 1 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COL1A2 1 0 0 0 0 1
COL4A2 0 0 1 0 0 1
COL5A1 0 0 1 0 0 1
COL7A1 0 1 0 0 0 1
COMP 0 1 0 0 0 1
COQ2, LOC112997540 0 0 1 0 0 1
COQ8B 0 1 0 0 0 1
COQ9 0 1 0 0 0 1
CREBBP 0 0 1 0 0 1
CRLF1 1 0 0 0 0 1
CRPPA 0 1 0 0 0 1
CRYBA4, CRYBB1 1 0 0 0 0 1
CSPP1 1 0 0 0 0 1
CTNND1, TMX2-CTNND1 1 0 0 0 0 1
CTSA 0 1 0 0 0 1
CTU2 0 0 1 0 0 1
CUBN 0 0 1 0 0 1
CWF19L1 0 1 0 0 0 1
CYP21A2, LOC106780800 0 1 0 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 0 1
CYP2U1 1 0 0 0 0 1
DACT1 0 1 0 0 0 1
DCAF17 1 0 0 0 0 1
DDC 0 1 0 0 0 1
DDHD1 0 1 0 0 0 1
DDX11 0 0 1 0 0 1
DEAF1 0 0 1 0 0 1
DGUOK 1 0 0 0 0 1
DHDDS 0 1 0 0 0 1
DIAPH1 0 1 0 0 0 1
DLL4 0 1 0 0 0 1
DLX3 0 0 1 0 0 1
DMD 1 0 0 0 0 1
DNAI1 0 1 0 0 0 1
DNAJC12 1 0 0 0 0 1
DNAJC19 0 1 0 0 0 1
DNAJC3 1 0 0 0 0 1
DNMT3A 0 0 1 0 0 1
DNMT3B 0 1 0 0 0 1
DOCK8 0 1 0 0 0 1
DPAGT1 0 1 0 0 0 1
DPH1 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSE 0 0 1 0 0 1
DST 0 1 0 0 0 1
DSTYK 0 0 1 0 0 1
DVL3 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 1
DYNC2LI1 0 1 0 0 0 1
ECHS1, LOC130005023 0 0 1 0 0 1
EDAR, RANBP2 1 0 0 0 0 1
EDN1 0 0 1 0 0 1
EFEMP2 0 1 0 0 0 1
EIF2AK3 0 1 0 0 0 1
EIF2B2 0 1 0 0 0 1
EIF2B4 0 0 1 0 0 1
ELN 0 0 1 0 0 1
ENPP1 0 0 1 0 0 1
EPCAM 1 0 0 0 0 1
EPG5 0 0 1 0 0 1
EPRS1 0 0 1 0 0 1
ERBB3 0 1 0 0 0 1
ERCC1 0 0 1 0 0 1
ERCC6 1 0 0 0 0 1
ESCO2 0 1 0 0 0 1
ETFA 0 1 0 0 0 1
ETFB 0 1 0 0 0 1
ETHE1 0 1 0 0 0 1
EXOSC9 1 0 0 0 0 1
EXT1 1 0 0 0 0 1
EYS 0 1 0 0 0 1
F8 1 0 0 0 0 1
F9 0 0 1 0 0 1
FANCG 0 0 1 0 0 1
FAR1 0 1 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 1
FBP1 0 1 0 0 0 1
FBXL4 0 1 0 0 0 1
FBXO11 0 1 0 0 0 1
FBXO38 0 0 1 0 0 1
FIBP 0 0 1 0 0 1
FIG4 0 0 1 0 0 1
FKBP14 1 0 0 0 0 1
FLNA 0 1 0 0 0 1
FLNB 0 0 1 0 0 1
FOXL2 0 1 0 0 0 1
FZD4, PRSS23 0 0 1 0 0 1
FZD6 0 1 0 0 0 1
G6PC1 0 1 0 0 0 1
GABRA1 0 0 1 0 0 1
GABRD 0 0 1 0 0 1
GAD1 0 1 0 0 0 1
GALC 0 1 0 0 0 1
GALNS, LOC126862447 1 0 0 0 0 1
GBE1 1 0 0 0 0 1
GCDH 0 0 1 0 0 1
GCSH 0 0 1 0 0 1
GDAP1 0 1 0 0 0 1
GDF5 0 0 1 0 0 1
GFAP 1 0 0 0 0 1
GLB1 0 1 0 0 0 1
GLDC 0 0 1 0 0 1
GLI3 0 0 1 0 0 1
GM2A 0 1 0 0 0 1
GORAB 1 0 0 0 0 1
GP9 0 1 0 0 0 1
GRIA3 0 0 1 0 0 1
GRID2 0 1 0 0 0 1
GRIN2A 0 1 0 0 0 1
GSS 1 0 0 0 0 1
GTPBP2 0 1 0 0 0 1
GTPBP3 0 1 0 0 0 1
GUCY2D 0 0 1 0 0 1
HAX1 0 1 0 0 0 1
HBA2, LOC106804612 1 0 0 0 0 1
HDAC8 0 1 0 0 0 1
HECW2 0 0 1 0 0 1
HIBCH 0 1 0 0 0 1
HJV 0 0 1 0 0 1
HMGA2 0 0 1 0 0 1
HMGCL 1 0 0 0 0 1
HNF4A 0 0 1 0 0 1
HOXA1 1 0 0 0 0 1
HPS5 0 0 1 0 0 1
HSPG2 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
HYLS1, PUS3 0 1 0 0 0 1
IDH2 0 1 0 0 0 1
IFT57 0 1 0 0 0 1
IGF1R 0 0 1 0 0 1
IGHMBP2 0 1 0 0 0 1
IL12B 0 0 1 0 0 1
IL12RB1 1 0 0 0 0 1
IL4I1, NUP62 0 0 1 0 0 1
INSR 0 0 1 0 0 1
ISCA2 1 0 0 0 0 1
ITGA2B 1 0 0 0 0 1
ITGB3 0 1 0 0 0 1
KANK1 0 0 1 0 0 1
KANSL1 0 1 0 0 0 1
KAT6A 0 1 0 0 0 1
KAT6B 0 0 1 0 0 1
KCNK3 0 0 1 0 0 1
KCNQ1, KCNQ1OT1 0 0 1 0 0 1
KCNV2 0 1 0 0 0 1
KCTD7 0 1 0 0 0 1
KDM5C 0 0 1 0 0 1
KIF14 0 1 0 0 0 1
KIF1C 0 1 0 0 0 1
KIF2A 1 0 0 0 0 1
KISS1R 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2D 0 1 0 0 0 1
KRIT1 0 1 0 0 0 1
LAMA3 0 0 1 0 0 1
LARS2 0 0 1 0 0 1
LEMD3 0 0 1 0 0 1
LGI4 0 1 0 0 0 1
LHX3 0 0 1 0 0 1
LINS1 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LMBRD1 0 0 1 0 0 1
LMF1 1 0 0 0 0 1
LMNA, LOC129931597 0 0 0 0 1 1
LOC101928335, MID2 0 1 0 0 0 1
LOC107303340, VHL 0 1 0 0 0 1
LOC126807125, SLC39A8 0 0 1 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 1
LOC126861110, TALDO1 0 0 1 0 0 1
LOC126861242, NDUFV1 0 1 0 0 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 1
LOC126863275, MED12 0 0 1 0 0 1
LOC129930446, MMACHC 0 1 0 0 0 1
LOC130060295, MYH3 0 1 0 0 0 1
LOC130061627, USH1G 0 1 0 0 0 1
LOC130067862, SCO2, TYMP 1 0 0 0 0 1
LONP1 0 0 1 0 0 1
LPAR6, RB1 1 0 0 0 0 1
LRBA, MAB21L2 1 0 0 0 0 1
LTBP2 0 0 1 0 0 1
LTBP4 0 1 0 0 0 1
LYST 0 1 0 0 0 1
LZTFL1 0 1 0 0 0 1
LZTR1 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MAGEL2 0 1 0 0 0 1
MAN1B1 0 1 0 0 0 1
MAPK8IP3 0 0 1 0 0 1
MAPKBP1 0 1 0 0 0 1
MC2R 1 0 0 0 0 1
MC4R 1 0 0 0 0 1
MCCC2 1 0 0 0 0 1
MCFD2 0 0 1 0 0 1
MCOLN1 1 0 0 0 0 1
MCPH1 0 1 0 0 0 1
MECP2 1 0 0 0 0 1
MED12 0 0 1 0 0 1
MEFV 1 0 0 0 0 1
MHRT, MYH7 0 0 1 0 0 1
MICU1 0 1 0 0 0 1
MKKS 1 0 0 0 0 1
MLPH 1 0 0 0 0 1
MMAA 1 0 0 0 0 1
MMACHC 0 1 0 0 0 1
MMP13 1 0 0 0 0 1
MPV17 0 1 0 0 0 1
MPZL2 0 1 0 0 0 1
MSH2 0 0 1 0 0 1
MTHFD1 1 0 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 0 1
MYBPC1 0 0 1 0 0 1
MYH7 0 1 0 0 0 1
MYO5A 0 0 1 0 0 1
MYO5B 0 1 0 0 0 1
MYO5B, SNHG22 0 1 0 0 0 1
MYO6 0 0 1 0 0 1
MYT1L 1 0 0 0 0 1
NAA15 0 1 0 0 0 1
NCAPH2, SCO2 1 0 0 0 0 1
NDE1 0 0 1 0 0 1
NDRG1 0 1 0 0 0 1
NDUFA12 0 1 0 0 0 1
NDUFAF5 0 1 0 0 0 1
NDUFS2 0 0 1 0 0 1
NDUFS6 0 1 0 0 0 1
NDUFS8 0 1 0 0 0 1
NEB 0 0 1 0 0 1
NEK1 0 1 0 0 0 1
NEMF 0 1 0 0 0 1
NFIB 0 1 0 0 0 1
NIPBL 0 1 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 1
NKX6-2 1 0 0 0 0 1
NLRP3 0 1 0 0 0 1
NNT 0 1 0 0 0 1
NOC3L, PLCE1 0 0 1 0 0 1
NPC1 1 0 0 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 0 0 1
NPHS1 1 0 0 0 0 1
NPR2 0 1 0 0 0 1
NR2C2AP, RFXANK 0 0 1 0 0 1
NR2F1 0 1 0 0 0 1
NR2F2 0 0 1 0 0 1
NR5A1 0 1 0 0 0 1
NSD1 0 0 1 0 0 1
NSDHL 0 1 0 0 0 1
NSUN2 1 0 0 0 0 1
NTRK1 1 0 0 0 0 1
OCA2 1 0 0 0 0 1
OCLN 0 1 0 0 0 1
ODAD4 0 0 1 0 0 1
OFD1 0 1 0 0 0 1
OPHN1 0 1 0 0 0 1
OTOF 0 1 0 0 0 1
PARK7 0 1 0 0 0 1
PARS2 1 0 0 0 0 1
PAX1 0 0 1 0 0 1
PAX3 0 0 1 0 0 1
PCARE 1 0 0 0 0 1
PCCB 1 0 0 0 0 1
PCDH15 0 1 0 0 0 1
PCNT 0 1 0 0 0 1
PEX1 0 1 0 0 0 1
PEX5 1 0 0 0 0 1
PGAP3 0 1 0 0 0 1
PGK1 0 1 0 0 0 1
PGM1 0 0 1 0 0 1
PIGQ 0 1 0 0 0 1
PINK1 0 1 0 0 0 1
PLA2G6 0 1 0 0 0 1
PLCE1 1 0 0 0 0 1
PLD1 0 1 0 0 0 1
POGZ 0 0 1 0 0 1
POLG 1 0 0 0 0 1
POLR1A 0 0 1 0 0 1
POMC 0 0 1 0 0 1
POMT1 1 0 0 0 0 1
POMT2 0 1 0 0 0 1
PORCN 0 1 0 0 0 1
PROC 1 0 0 0 0 1
PRUNE1 0 0 1 0 0 1
PRX 0 1 0 0 0 1
PSAP 1 0 0 0 0 1
PSPH 0 1 0 0 0 1
PSTPIP1 0 0 1 0 0 1
PTDSS1 0 0 1 0 0 1
PTF1A 1 0 0 0 0 1
PTH1R 1 0 0 0 0 1
PTRH2 1 0 0 0 0 1
PUF60 0 1 0 0 0 1
PYCR1 0 1 0 0 0 1
PYCR2 0 0 1 0 0 1
QARS1 1 0 0 0 0 1
RAB27A 1 0 0 0 0 1
RAD50 0 1 0 0 0 1
RAF1 0 0 1 0 0 1
RAI1 0 1 0 0 0 1
RARB 0 1 0 0 0 1
RELN 0 1 0 0 0 1
RELN, SLC26A5 0 1 0 0 0 1
RETREG1 0 1 0 0 0 1
RFT1 0 0 1 0 0 1
RGS9BP 1 0 0 0 0 1
RHOBTB2 0 0 1 0 0 1
RIMS1 0 1 0 0 0 1
RIPK1 0 1 0 0 0 1
RMND1 0 0 1 0 0 1
RNASEH2A 1 0 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RNF216 0 0 1 0 0 1
ROBO3 0 0 1 0 0 1
RP1 1 0 0 0 0 1
RP1L1 0 1 0 0 0 1
RPGRIP1 1 0 0 0 0 1
RPL11 1 0 0 0 0 1
RUNX1 1 0 0 0 0 1
RUNX2 0 0 1 0 0 1
SACK1H 1 0 0 0 0 1
SACS 0 1 0 0 0 1
SATB2 0 0 1 0 0 1
SCARB2 0 1 0 0 0 1
SCARF2 0 1 0 0 0 1
SCN1A 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCN2A 0 1 0 0 0 1
SCN3A 0 0 1 0 0 1
SCYL1 0 0 1 0 0 1
SDCCAG8 0 1 0 0 0 1
SETD5 0 1 0 0 0 1
SH3PXD2B 0 0 1 0 0 1
SHANK2 0 1 0 0 0 1
SLC11A2 0 1 0 0 0 1
SLC16A1 0 1 0 0 0 1
SLC16A2 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 1
SLC19A3 1 0 0 0 0 1
SLC1A4 0 1 0 0 0 1
SLC22A5 0 1 0 0 0 1
SLC25A22 0 1 0 0 0 1
SLC25A42 0 1 0 0 0 1
SLC26A3 1 0 0 0 0 1
SLC2A10 0 1 0 0 0 1
SLC2A9 0 1 0 0 0 1
SLC36A2 0 0 1 0 0 1
SLC3A1 1 0 0 0 0 1
SLC45A2 0 1 0 0 0 1
SLC4A11 1 0 0 0 0 1
SLC52A3 0 1 0 0 0 1
SLC5A1 1 0 0 0 0 1
SLC6A1 1 0 0 0 0 1
SLC9A3 0 1 0 0 0 1
SLITRK6 0 0 1 0 0 1
SMARCA2 0 1 0 0 0 1
SMG9 1 0 0 0 0 1
SMPD1 0 1 0 0 0 1
SMS 0 0 1 0 0 1
SOS1 0 0 1 0 0 1
SOX5 0 0 1 0 0 1
SPAST 1 0 0 0 0 1
SPTBN4 0 1 0 0 0 1
SRP54 1 0 0 0 0 1
SRPX2 0 0 1 0 0 1
ST3GAL5 1 0 0 0 0 1
STRADA 0 1 0 0 0 1
STX11 0 0 1 0 0 1
STXBP2 1 0 0 0 0 1
SUMF1 1 0 0 0 0 1
SUOX 1 0 0 0 0 1
SYNGAP1 0 1 0 0 0 1
SYT1 0 1 0 0 0 1
SZT2 0 0 1 0 0 1
TAFAZZIN 0 1 0 0 0 1
TALDO1 1 0 0 0 0 1
TBC1D24 0 0 1 0 0 1
TBCE 1 0 0 0 0 1
TBCK 1 0 0 0 0 1
TBK1 0 0 1 0 0 1
TBX4 0 0 1 0 0 1
TBXAS1 1 0 0 0 0 1
TCF12 1 0 0 0 0 1
TCF4 0 1 0 0 0 1
TCIRG1 0 0 1 0 0 1
TCOF1 1 0 0 0 0 1
TCTN1 1 0 0 0 0 1
TDRD7 0 1 0 0 0 1
TECRL 1 0 0 0 0 1
TFRC 0 0 1 0 0 1
TG 0 1 0 0 0 1
TGFBR2 1 0 0 0 0 1
TGM5 1 0 0 0 0 1
THOC2 0 0 1 0 0 1
THOC6 0 1 0 0 0 1
THPO 0 0 1 0 0 1
TJP2 0 1 0 0 0 1
TMEM231 0 0 1 0 0 1
TMLHE 0 0 1 0 0 1
TNFRSF13B 1 0 0 0 0 1
TP53 1 0 0 0 0 1
TRAK1 0 1 0 0 0 1
TRAPPC9 0 1 0 0 0 1
TRIOBP 0 0 1 0 0 1
TRPV4 1 0 0 0 0 1
TSC1 1 0 0 0 0 1
TSC2 0 0 0 0 1 1
TUBA8 0 0 1 0 0 1
TUBB2A 0 1 0 0 0 1
TUBB2B 0 0 1 0 0 1
TUBGCP6 0 1 0 0 0 1
TULP1 1 0 0 0 0 1
TUSC3 1 0 0 0 0 1
TWIST1 1 0 0 0 0 1
TYR 1 0 0 0 0 1
UBR1 1 0 0 0 0 1
UCP3 0 0 1 0 0 1
UGDH 1 0 0 0 0 1
UPB1 1 0 0 0 0 1
USB1 0 1 0 0 0 1
USH2A 0 1 0 0 0 1
USP18 0 1 0 0 0 1
USP9X 0 0 1 0 0 1
VARS1 0 0 1 0 0 1
VDR 1 0 0 0 0 1
VSX2 0 1 0 0 0 1
VWF 0 1 0 0 0 1
WARS2 0 0 1 0 0 1
WDR19 0 1 0 0 0 1
WDR35 0 1 0 0 0 1
WFS1 0 0 1 0 0 1
WNT1 0 0 1 0 0 1
WNT10B 0 1 0 0 0 1
WRN 0 1 0 0 0 1
XPC 0 1 0 0 0 1
XYLT2 1 0 0 0 0 1
YWHAG 1 0 0 0 0 1
ZEB2 0 0 1 0 0 1
ZNF335 0 1 0 0 0 1
ZNF423 0 1 0 0 0 1
ZNF462 0 1 0 0 0 1
ZNF711 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 688
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Coffin-Siris syndrome 1 2 4 0 0 0 6
MHC class II deficiency 2 1 3 0 0 6
Microcephaly 5, primary, autosomal recessive 2 3 1 0 0 6
Polycystic kidney disease, adult type 2 0 4 0 0 6
Hypercholesterolemia, familial, 1 2 2 0 0 1 5
Noonan syndrome 1 5 0 0 0 0 5
Very long chain acyl-CoA dehydrogenase deficiency 1 3 1 0 0 5
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 0 0 0 0 4
Epilepsy, familial focal, with variable foci 2 0 3 1 0 0 4
Fanconi anemia complementation group D1 2 1 0 0 1 4
Glycogen storage disease, type II 2 1 1 0 0 4
Lissencephaly due to TUBA1A mutation 2 2 0 0 0 4
Neurofibromatosis, type 1 2 1 1 0 0 4
Achromatopsia 2 2 0 1 0 0 3
Aicardi-Goutieres syndrome 5 0 2 1 0 0 3
Autosomal recessive polycystic kidney disease 0 2 1 0 0 3
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 1 1 0 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 2 0 0 0 3
Familial Mediterranean fever, autosomal dominant 3 0 0 0 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 1 1 0 0 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 2 1 0 0 3
Joubert syndrome 17 2 1 0 0 0 3
Joubert syndrome 9 1 0 2 0 0 3
Maple syrup urine disease 2 0 1 0 0 3
Merosin deficient congenital muscular dystrophy 1 2 0 0 0 3
Microcephaly 17, primary, autosomal recessive 0 0 3 0 0 3
Mismatch repair cancer syndrome 1 1 1 1 0 0 3
Mucopolysaccharidosis, MPS-IV-A 2 1 0 0 0 3
Primary ciliary dyskinesia 3 0 1 2 0 0 3
Progressive familial intrahepatic cholestasis type 2 2 1 0 0 0 3
Propionic acidemia 2 0 0 1 0 3
Sandhoff disease 3 0 0 0 0 3
Smith-Lemli-Opitz syndrome 2 0 1 0 0 3
Wilson disease 3 0 0 0 0 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 1 0 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 1 0 0 0 2
3M syndrome 1 1 0 1 0 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 2 0 0 0 2
Achromatopsia 7 0 2 0 0 0 2
Acrocapitofemoral dysplasia 0 1 1 0 0 2
Adrenoleukodystrophy 2 0 0 0 0 2
Angelman syndrome 1 0 1 0 0 2
Aortic aneurysm, familial thoracic 4 1 0 0 0 1 2
Apparent mineralocorticoid excess 0 1 1 0 0 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 1 1 0 0 2
Arthrogryposis, distal, with impaired proprioception and touch 0 2 0 0 0 2
Ataxia-telangiectasia-like disorder 1 1 0 1 0 0 2
Autosomal dominant KCNQ1-related disease 0 0 2 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 1 1 0 0 2
Autosomal recessive congenital ichthyosis 2 0 1 1 0 0 2
Autosomal recessive congenital ichthyosis 5 1 0 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 8 1 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 15 0 0 2 0 0 2
Autosomal recessive spinocerebellar ataxia 20 0 1 1 0 0 2
Bardet-Biedl syndrome 9 1 1 0 0 0 2
Biotinidase deficiency 1 1 0 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 0 0 2
C1Q deficiency 1 0 1 0 0 2
CBL-related disorder 0 2 0 0 0 2
CHARGE syndrome 0 1 1 0 0 2
COL6A3-related phenotype 0 0 2 0 0 2
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2 0 0 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4B1 1 0 1 0 0 2
Citrullinemia type I 2 0 0 0 0 2
Classic homocystinuria 1 1 0 0 0 2
Cobalamin C disease 0 2 0 0 0 2
Cohen syndrome 1 1 0 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 17 1 0 1 0 0 2
Congenital isolated adrenocorticotropic hormone deficiency 0 1 1 0 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 2 0 0 0 2
Congenital microvillous atrophy 0 2 0 0 0 2
Cowden syndrome 1 1 1 0 0 0 2
Cystic fibrosis 1 1 0 0 0 2
Deficiency of transaldolase 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 25 1 0 1 0 0 2
Developmental and epileptic encephalopathy, 26 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 27 0 1 1 0 0 2
Developmental and epileptic encephalopathy, 32 1 1 0 0 0 2
Dilated cardiomyopathy 1S 0 1 1 0 0 2
Distal arthrogryposis type 5D 2 0 0 0 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 1 0 1 0 0 2
Eichsfeld type congenital muscular dystrophy 0 0 2 0 0 2
Familial hemophagocytic lymphohistiocytosis 2 1 1 0 0 0 2
Fraser syndrome 1 0 2 0 0 0 2
Glaucoma 3A 1 1 0 0 0 2
Glucocorticoid deficiency with achalasia 1 0 1 0 0 2
Glucose-6-phosphate transport defect 1 1 0 0 0 2
Glycine encephalopathy 0 0 2 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 1 0 0 0 2
Glycogen storage disease type III 1 0 1 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 2 0 0 0 0 2
Hereditary fructosuria 1 1 0 0 0 2
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 0 1 0 0 2
Hypogonadotropic hypogonadism 3 with or without anosmia 0 2 0 0 0 2
Hypotonia, ataxia, and delayed development syndrome 0 2 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 2 0 0 0 2
Intellectual disability, autosomal recessive 3 1 0 1 0 0 2
Joubert syndrome 1 1 1 0 0 0 2
Joubert syndrome 26 0 2 0 0 0 2
Joubert syndrome 5 1 1 0 0 0 2
Juvenile arthritis due to defect in LACC1 0 2 0 0 0 2
KBG syndrome 1 1 0 0 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 1 0 0 2
Long QT syndrome 1 1 0 1 0 0 2
Marfan syndrome 0 2 0 0 0 2
Maturity-onset diabetes of the young type 8 0 2 0 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 1 0 0 0 2
Microcephalic primordial dwarfism, Alazami type 1 1 0 0 0 2
Microcephaly 4, primary, autosomal recessive 0 1 1 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 5 0 1 1 0 0 2
Mucopolysaccharidosis type 6 1 1 0 0 0 2
Mucopolysaccharidosis type 7 2 0 0 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 0 2 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 0 1 0 0 2
Nephronophthisis 15 0 1 1 0 0 2
Nephrotic syndrome, type 3 1 0 1 0 0 2
Neuronal ceroid lipofuscinosis 5 1 0 1 0 0 2
Neuronal ceroid lipofuscinosis 8 0 2 0 0 0 2
Noonan syndrome 8 1 1 0 0 0 2
Obesity 0 0 2 0 0 2
Orofaciodigital syndrome V 1 1 0 0 0 2
Orofaciodigital syndrome type 14 0 0 2 0 0 2
Osteogenesis imperfecta type 8 0 1 1 0 0 2
PMM2-congenital disorder of glycosylation 1 1 0 0 0 2
PTPN11-related disorder 2 0 0 0 0 2
Pendred syndrome 1 1 0 0 0 2
Polycystic kidney disease 2 0 2 0 0 0 2
Polyglandular autoimmune syndrome, type 1 1 1 0 0 0 2
Polyglucosan body myopathy type 1 0 1 1 0 0 2
Primary ciliary dyskinesia 15 0 2 0 0 0 2
Progressive pseudorheumatoid dysplasia 1 0 1 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 0 1 1 0 0 2
Pyruvate dehydrogenase E3 deficiency 1 1 0 0 0 2
Severe intellectual disability-progressive spastic diplegia syndrome 1 1 0 0 0 2
Succinyl-CoA acetoacetate transferase deficiency 1 1 0 0 0 2
Temtamy syndrome 2 0 0 0 0 2
Thrombocytopenia 2 0 1 1 0 0 2
Thrombocytopenia, anemia, and myelofibrosis 1 0 1 0 0 2
Tibial muscular dystrophy 0 1 1 0 0 2
Trichohepatoenteric syndrome 1 0 1 1 0 0 2
Trichohepatoenteric syndrome 2 1 1 0 0 0 2
Usher syndrome type 1 1 1 0 0 0 2
Vanishing white matter disease 0 1 1 0 0 2
Vitamin D-dependent rickets, type 1 2 0 0 0 0 2
Warburg micro syndrome 1 1 1 0 0 0 2
X-linked MED12-related disorder 0 0 2 0 0 2
3-Methylglutaconic aciduria type 2 0 1 0 0 0 1
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 0 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 1
3-methylglutaconic aciduria type 5 0 1 0 0 0 1
3M syndrome 3 0 1 0 0 0 1
46,XY sex reversal 3 0 1 0 0 0 1
8q24.3 microdeletion syndrome 0 1 0 0 0 1
ABCC8-related disorder 0 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 0 0 1
Achondroplasia 1 0 0 0 0 1
Acral peeling skin syndrome 1 0 0 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 1 0 0 1
Actin accumulation myopathy 1 0 0 0 0 1
Action myoclonus-renal failure syndrome 0 1 0 0 0 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 0 1 0 0 1
Adams-Oliver syndrome 6 0 1 0 0 0 1
Adenosine kinase deficiency 0 1 0 0 0 1
Aicardi-Goutieres syndrome 2 0 1 0 0 0 1
Aicardi-Goutieres syndrome 4 1 0 0 0 0 1
Alexander disease 1 0 0 0 0 1
Alkuraya-Kucinskas syndrome 0 0 1 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 0 0 1
Alstrom syndrome 0 1 0 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 0 1
Amelogenesis imperfecta, hypocalcification type 1 0 0 0 0 1
Aminoacylase 1 deficiency 1 0 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 0 0 1
Arterial calcification, generalized, of infancy, 1 0 0 1 0 0 1
Arterial tortuosity syndrome 0 1 0 0 0 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 1 0 0 0 1
Arthrogryposis, distal, type 1B 0 0 1 0 0 1
Arthrogryposis, distal, type 2B3 0 1 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 1
Autism, susceptibility to, 17 0 1 0 0 0 1
Autosomal dominant MYH7-related disorder 0 0 1 0 0 1
Autosomal dominant Robinow syndrome 3 0 1 0 0 0 1
Autosomal dominant SCN1A-related disorder 0 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 1 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 65 0 0 1 0 0 1
Autosomal recessive AGK-related phenotype 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 9 0 0 1 0 0 1
Autosomal recessive cutis laxa type 2B 0 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 0 1 0 0 0 1
Autosomal recessive early-onset Parkinson disease 7 0 1 0 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 1 0 0 1
Autosomal recessive multiple pterygium syndrome 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 0 0 0 1
Autosomal recessive osteopetrosis 1 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 17 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 18 0 1 0 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 0 1
Baraitser-Winter syndrome 1 0 0 1 0 0 1
Bardet-Biedl syndrome 16 0 1 0 0 0 1
Bardet-Biedl syndrome 17 0 1 0 0 0 1
Bardet-Biedl syndrome 4 0 1 0 0 0 1
Bardet-Biedl syndrome 6 1 0 0 0 0 1
Bernard Soulier syndrome 0 1 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 1
Blepharocheilodontic syndrome 2 1 0 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 0 1
Bradyopsia 1 0 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 0 1
Brain-lung-thyroid syndrome 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 1 0 0 0 1
CNTNAP1-related disorder 0 1 0 0 0 1
CODAS syndrome 0 0 1 0 0 1
COG5-congenital disorder of glycosylation 0 0 1 0 0 1
COG6-related disorder 1 0 0 0 0 1
COG7 congenital disorder of glycosylation 0 1 0 0 0 1
COL1A2-related disorder 1 0 0 0 0 1
COL2A1-related phenotype 0 1 0 0 0 1
COL6A2-related disorder 0 0 1 0 0 1
COL7A1-related disorder 0 1 0 0 0 1
COMP-related disorder 0 1 0 0 0 1
Cardiac valvular defect, developmental 0 1 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 0 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, neonatal form 1 0 0 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 0 1 0 0 1
Cataract 17 multiple types 1 0 0 0 0 1
Cataract 36 0 1 0 0 0 1
Cataract 41 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 3 1 0 0 0 0 1
Central precocious puberty 1 0 0 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 1 0 0 1
Cerebral cavernous malformation 0 1 0 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 3 0 1 0 0 0 1
Cerebrooculofacioskeletal syndrome 4 0 0 1 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4D 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4F 0 1 0 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 0 1
Child syndrome 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 0 1 0 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome 0 1 0 0 0 1
Chédiak-Higashi syndrome 0 1 0 0 0 1
Cleidocranial dysostosis 0 0 1 0 0 1
Cockayne syndrome type 2 1 0 0 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 0 0 1
Cold-induced sweating syndrome 1 1 0 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 0 0 0 1
Combined deficiency of sialidase AND beta galactosidase 0 1 0 0 0 1
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 1 0 0 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 11 0 0 1 0 0 1
Combined oxidative phosphorylation defect type 14 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 23 0 1 0 0 0 1
Complement component 6 deficiency 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 0 0 1
Cone dystrophy with supernormal rod response 0 1 0 0 0 1
Cone-rod dystrophy 7 0 1 0 0 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1 0 0 1
Congenital bile acid synthesis defect 2 0 0 1 0 0 1
Congenital diarrhea 5 with tufting enteropathy 1 0 0 0 0 1
Congenital generalized lipodystrophy type 1 0 1 0 0 0 1
Congenital glucose-galactose malabsorption 1 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 1
Congenital heart defects, multiple types, 4 0 0 1 0 0 1
Congenital hereditary endothelial dystrophy of cornea 1 0 0 0 0 1
Congenital hypotrichosis with juvenile macular dystrophy 0 1 0 0 0 1
Congenital myopathy with internal nuclei and atypical cores 0 1 0 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 0 1
Congenital secretory sodium diarrhea 8 0 1 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 0 1
Cortical dysplasia-focal epilepsy syndrome 0 0 1 0 0 1
Coxopodopatellar syndrome 0 0 1 0 0 1
Cranioectodermal dysplasia 2 0 1 0 0 0 1
Craniosynostosis 7 0 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 1 0 0 0 1
Cutis laxa, autosomal recessive, type 1B 0 1 0 0 0 1
Cystinuria 1 0 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 1 0 0 0 1
DACT1-related neural tube defects 0 1 0 0 0 1
DPAGT1-congenital disorder of glycosylation 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Deficiency of adenosine deaminase 2 0 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 0 0 1
Deficiency of beta-ureidopropionase 1 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 0 1
Deficiency of phosphoserine phosphatase 0 1 0 0 0 1
Dermatofibrosis lenticularis disseminata 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 56 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 60 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 64 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 68 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 76 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 77 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 1 0 0 0 1
Diabetes insipidus, nephrogenic, autosomal 0 1 0 0 0 1
Diamond-Blackfan anemia 7 1 0 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 0 0 1 1
Dubin-Johnson syndrome 1 0 0 0 0 1
ELN-related disorder 0 0 1 0 0 1
Early Myoclonic Encephalopathy 0 1 0 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 1 0 0 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 0 0 1 0 0 1
Ehlers-Danlos syndrome, musculocontractural type 2 0 0 1 0 0 1
Elliptocytosis 2 0 0 1 0 0 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 0 0 1 0 0 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 1 0 0 0 1
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 1 0 0 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 0 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 1
Epileptic encephalopathy 1 0 0 0 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 0 1
Exostoses, multiple, type 1 1 0 0 0 0 1
Exudative vitreoretinopathy 1 0 0 1 0 0 1
Exudative vitreoretinopathy 7 0 1 0 0 0 1
Factor 5 and Factor VIII, combined deficiency of, 2 0 0 1 0 0 1
Familial adenomatous polyposis 1 0 0 0 0 1 1
Familial hemophagocytic lymphohistiocytosis 4 0 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 5 1 0 0 0 0 1
Familial hypocalciuric hypercalcemia 3 1 0 0 0 0 1
Familial temporal lobe epilepsy 7 0 1 0 0 0 1
Fanconi anemia complementation group G 0 0 1 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 0 0 1
Fatty acyl-CoA reductase 1 deficiency 0 1 0 0 0 1
Fetal hemoglobin quantitative trait locus 1 1 0 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 0 1
Focal dermal hypoplasia 0 1 0 0 0 1
Frank-Ter Haar syndrome 0 0 1 0 0 1
Frontometaphyseal dysplasia 2 0 1 0 0 0 1
Fructose-biphosphatase deficiency 0 1 0 0 0 1
GLI3-related postaxial polydactyly 0 0 1 0 0 1
GM3 synthase deficiency 1 0 0 0 0 1
GNE myopathy 1 0 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 0 0 1
Geroderma osteodysplastica 1 0 0 0 0 1
Ghosal hematodiaphyseal dysplasia 1 0 0 0 0 1
Glanzmann thrombasthenia 0 1 0 0 0 1
Glucocorticoid deficiency 1 1 0 0 0 0 1
Glucocorticoid deficiency 4 0 1 0 0 0 1
Glutaric aciduria, type 1 0 0 1 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 1 0 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 1
Grebe syndrome 0 0 1 0 0 1
Griscelli syndrome type 1 0 0 1 0 0 1
Griscelli syndrome type 2 1 0 0 0 0 1
Griscelli syndrome type 3 1 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 0 1
Harel-Yoon syndrome 0 1 0 0 0 1
Hearing loss, autosomal recessive 111 0 1 0 0 0 1
Heart and brain malformation syndrome 1 0 0 0 0 1
Hemochromatosis type 2A 0 0 1 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 1 0 0 0 0 1
Hereditary spastic paraplegia 28 0 1 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 0 1
Hereditary spastic paraplegia 4 1 0 0 0 0 1
Hereditary spastic paraplegia 56 1 0 0 0 0 1
Hereditary spherocytosis type 3 0 1 0 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 0 0 0 1
Hermansky-Pudlak syndrome 5 0 0 1 0 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 0 0 1
High myopia-sensorineural deafness syndrome 0 0 1 0 0 1
Human HOXA1 syndromes 1 0 0 0 0 1
Hyaline fibromatosis syndrome 0 1 0 0 0 1
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 0 1 0 0 1
Hyperglycinuria 0 0 1 0 0 1
Hyperphenylalaninemia due to DNAJC12 deficiency 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 0 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy 1 0 0 0 0 1
Hypomyelinating leukodystrophy 10 0 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 1 0 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 0 0 1
Hypotrichosis 8 1 0 0 0 0 1
Hypouricemia, renal, 2 0 1 0 0 0 1
INSR-related disorder 0 0 1 0 0 1
ISPD-related disorder 0 1 0 0 0 1
Imerslund-Grasbeck syndrome 0 0 1 0 0 1
Immunodeficiency 57 0 1 0 0 0 1
Immunodeficiency, common variable, 2 1 0 0 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 1 0 0 0 1
Infantile GM1 gangliosidosis 0 1 0 0 0 1
Infantile bilateral striatal necrosis 0 0 1 0 0 1
Infantile cerebellar-retinal degeneration 0 0 1 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 0 0 1
Inherited glutathione synthetase deficiency 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0 1 0 0 0 1
Intellectual disability, X-linked 101 0 1 0 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 0 1
Intellectual disability, X-linked 97 0 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 0 0 1
Intellectual disability, autosomal dominant 40 0 0 1 0 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 0 1
Intellectual disability, autosomal recessive 13 0 1 0 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 0 1
Intellectual disability, autosomal recessive 5 1 0 0 0 0 1
Intellectual disability, autosomal recessive 7 1 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 0 0 1
Intellectual disability-strabismus syndrome 1 0 0 0 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 0 1
Iodotyrosyl coupling defect 0 1 0 0 0 1
Isolated microphthalmia 2 0 1 0 0 0 1
Jaberi-Elahi syndrome 0 1 0 0 0 1
Johanson-Blizzard syndrome 1 0 0 0 0 1
Joubert syndrome 13 1 0 0 0 0 1
Joubert syndrome 21 1 0 0 0 0 1
Joubert syndrome 23 0 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 0 1 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 0 0 1 0 0 1
Juvenile retinoschisis 0 1 0 0 0 1
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 0 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 0 1
Kabuki syndrome 1 0 1 0 0 0 1
Kartagener syndrome 0 1 0 0 0 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 1 0 0 0 1
Knobloch syndrome 0 1 0 0 0 1
Koolen-de Vries syndrome 0 1 0 0 0 1
Kostmann syndrome 0 1 0 0 0 1
LTBP2-related disorder 0 0 1 0 0 1
Lamb-Shaffer syndrome 0 0 1 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 1
Leber congenital amaurosis 1 0 0 1 0 0 1
Leber congenital amaurosis 6 1 0 0 0 0 1
Lenz-Majewski hyperostosis syndrome 0 0 1 0 0 1
Lethal Kniest-like syndrome 0 1 0 0 0 1
Lethal congenital contracture syndrome 2 0 1 0 0 0 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 1 0 0 0 1
Leukodystrophy, hypomyelinating, 15 0 0 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 1
Lipase deficiency, combined 1 0 0 0 0 1
Lissencephaly 4 0 0 1 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 1
MAP3K7-related disorder 0 0 1 0 0 1
MSH2-related disorder 0 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 1 0 0 0 1
Meckel syndrome, type 11 0 0 1 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 0 0 1 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 1 0 0 0 1
Metaphyseal chondrodysplasia, Spahr type 1 0 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblF 0 0 1 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 0 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 9, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly and chorioretinopathy 1 0 1 0 0 0 1
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 0 1 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 0 0 0 0 1
Microcytic anemia with liver iron overload 0 1 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 2 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 23 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 4 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 9 0 1 0 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 0 1 0 0 1
Mowat-Wilson syndrome 0 0 1 0 0 1
Mucolipidosis type IV 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Multiple endocrine neoplasia type 4 0 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 0 0 0 1
Multiple sulfatase deficiency 1 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 1 0 0 0 1
Myopathy, centronuclear, 5 0 0 1 0 0 1
Nemaline myopathy 2 0 0 1 0 0 1
Nemaline myopathy 7 1 0 0 0 0 1
Nephronophthisis 14 0 1 0 0 0 1
Nephronophthisis 20 0 1 0 0 0 1
Nephronophthisis 3 0 1 0 0 0 1
Nephrotic syndrome, type 2 1 0 0 0 0 1
Nephrotic syndrome, type 9 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 0 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 1 0 0 1
Neurodevelopmental disorder with midbrain and hindbrain malformations 0 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 0 0 1 0 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2B 0 1 0 0 0 1
Neutropenia, severe congenital, 8, autosomal dominant 1 0 0 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 0 1
Niemann-Pick disease, type A 0 1 0 0 0 1
Niemann-Pick disease, type C1 1 0 0 0 0 1
Nijmegen breakage syndrome-like disorder 0 1 0 0 0 1
Non-acquired combined pituitary hormone deficiency with spine abnormalities 0 0 1 0 0 1
Nonsyndromic congenital nail disorder 1 0 1 0 0 0 1
Noonan syndrome 10 0 0 1 0 0 1
Noonan syndrome 4 0 0 1 0 0 1
Noonan syndrome 5 0 0 1 0 0 1
Norman-Roberts syndrome 0 1 0 0 0 1
Occult macular dystrophy 0 1 0 0 0 1
Oculocutaneous albinism type 1A 1 0 0 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 0 1
Oculofaciocardiodental syndrome 0 1 0 0 0 1
Orofaciodigital syndrome 18 0 1 0 0 0 1
Orofaciodigital syndrome I 0 1 0 0 0 1
Osteogenesis imperfecta type 15 0 0 1 0 0 1
Osteopetrosis with renal tubular acidosis 1 0 0 0 0 1
Otofaciocervical syndrome 2 0 0 1 0 0 1
PARS2-related disorder 1 0 0 0 0 1
PGM1-congenital disorder of glycosylation 0 0 1 0 0 1
Pancreatic agenesis 2 1 0 0 0 0 1
Peeling skin syndrome 6 1 0 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 1 0 0 0 1
Peroxisome biogenesis disorder 2A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder 2B 1 0 0 0 0 1
Phosphate transport defect 0 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 0 1
Platelet-type bleeding disorder 16 1 0 0 0 0 1
Poikiloderma with neutropenia 0 1 0 0 0 1
Polycystic kidney disease 4 1 0 0 0 0 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 1 0 0 0 1
Polymicrogyria with optic nerve hypoplasia 0 0 1 0 0 1
Pontocerebellar hypoplasia, type 1D 1 0 0 0 0 1
Primary ciliary dyskinesia 29 0 1 0 0 0 1
Primary ciliary dyskinesia 35 0 0 1 0 0 1
Primary failure of tooth eruption 1 0 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 1
Primary hypomagnesemia 1 0 0 0 0 1
Progressive bulbar palsy of childhood 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 1 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 3 1 0 0 0 0 1
Progressive myoclonic epilepsy type 3 0 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 1
Progressive sclerosing poliodystrophy 1 0 0 0 0 1
Proximal myopathy with extrapyramidal signs 0 1 0 0 0 1
Pseudo-TORCH syndrome 1 0 1 0 0 0 1
Pseudo-TORCH syndrome 2 0 1 0 0 0 1
Pulmonary hypertension, primary, 4 0 0 1 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 1 0 0 1
Question mark ears, isolated 0 0 1 0 0 1
RFT1-congenital disorder of glycosylation 0 0 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 1
Rafiq syndrome 0 1 0 0 0 1
Renal carnitine transport defect 0 1 0 0 0 1
Reticular dysgenesis 1 0 0 0 0 1
Retinitis pigmentosa 1 1 0 0 0 0 1
Retinitis pigmentosa 14 1 0 0 0 0 1
Retinitis pigmentosa 25 0 1 0 0 0 1
Retinitis pigmentosa 54 1 0 0 0 0 1
Retinitis pigmentosa 59 0 1 0 0 0 1
Rett syndrome 1 0 0 0 0 1
Roberts-SC phocomelia syndrome 0 1 0 0 0 1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 0 1
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR 0 1 0 0 0 1
SLC25A42-related mitochondrial disorder 0 1 0 0 0 1
SLC39A8-CDG 0 0 1 0 0 1
Salla disease 1 0 0 0 0 1
Schaaf-Yang syndrome 0 1 0 0 0 1
Seizures, benign familial infantile, 2 1 0 0 0 0 1
Sengers syndrome 0 1 0 0 0 1
Senior-Loken syndrome 8 0 1 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 1 0 0 0 1
Short-rib thoracic dysplasia 14 with polydactyly 0 1 0 0 0 1
Short-rib thoracic dysplasia 15 with polydactyly 0 1 0 0 0 1
Sialuria 0 1 0 0 0 1
Smith-Magenis syndrome 0 1 0 0 0 1
Sotos syndrome 0 0 1 0 0 1
Spastic ataxia 2 0 1 0 0 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 1 0 0 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 0 0 0 1
Sphingolipid activator protein 1 deficiency 1 0 0 0 0 1
Split hand-foot malformation 6 0 1 0 0 0 1
Spondylo-ocular syndrome 1 0 0 0 0 1
Spondylocarpotarsal synostosis syndrome 0 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, aggrecan type 0 0 1 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 1 0 0 0 0 1
Spondylometaphyseal dysplasia, Kozlowski type 1 0 0 0 0 1
Spondyloperipheral dysplasia 1 0 0 0 0 1
Sulfite oxidase deficiency 1 0 0 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 0 0 1
Systemic mast cell disease 0 0 1 0 0 1
TCF12-related craniosynostosis 1 0 0 0 0 1
TFRC-related combined immunodeficiency 0 0 1 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 0 1
TTN-related disorder 0 0 1 0 0 1
TWIST1-related disorder 1 0 0 0 0 1
Tall stature-intellectual disability-renal anomalies syndrome 0 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 0 1 0 0 1
Tay-Sachs disease, variant AB 0 1 0 0 0 1
Thrombocythemia 1 0 0 1 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 1 0 0 0 0 1
Thrombophilia, X-linked, due to factor 9 defect 0 0 1 0 0 1
Treacher Collins syndrome 1 1 0 0 0 0 1
Tricho-dento-osseous syndrome 0 0 1 0 0 1
Trichohepatoneurodevelopmental syndrome 0 1 0 0 0 1
Tuberous sclerosis 1 1 0 0 0 0 1
Tuberous sclerosis 2 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 0 1
Ullrich congenital muscular dystrophy 2 0 1 0 0 0 1
Usher syndrome type 1D 0 0 1 0 0 1
Usher syndrome type 1G 0 1 0 0 0 1
Usher syndrome type 2A 0 1 0 0 0 1
Usher syndrome type 2C 0 0 1 0 0 1
Uterine leiomyoma 0 0 1 0 0 1
Van den Ende-Gupta syndrome 0 1 0 0 0 1
Vici syndrome 0 0 1 0 0 1
Vitamin D-dependent rickets type II with alopecia 1 0 0 0 0 1
Von Hippel-Lindau syndrome 0 1 0 0 0 1
Waardenburg syndrome type 1 0 0 1 0 0 1
Warsaw breakage syndrome 0 0 1 0 0 1
Weiss-Kruszka syndrome 0 1 0 0 0 1
Werner syndrome 0 1 0 0 0 1
Wolcott-Rallison dysplasia 0 1 0 0 0 1
Woodhouse-Sakati syndrome 1 0 0 0 0 1
X-linked DMD-related dystrophinopathy 1 0 0 0 0 1
X-linked chondrodysplasia punctata 1 1 0 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1
Xeroderma pigmentosum, group C 0 1 0 0 0 1
Yunis-Varon syndrome 0 0 1 0 0 1
alpha Thalassemia 1 0 0 0 0 1
beta Thalassemia 1 0 0 0 0 1
von Willebrand disease type 1 0 1 0 0 0 1

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