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:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign total
279 363 246 1 6 895

Gene and significance breakdown #

Total genes and gene combinations: 689
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
ABCD1 2 0 0 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
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
FAM83H 1 0 0 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, POLR1C 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, POLGARF 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
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
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 association 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 congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 1 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
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 1 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
Non-ketotic hyperglycinemia 0 0 2 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-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
Beta-hydroxyisobutyryl-CoA deacylase deficiency 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-lung-thyroid syndrome 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 1 0 0 0 1
CNTNAP1-related disease 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 disorders 0 1 0 0 0 1
COMP-related disorders 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
Centra 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