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
194 279 233 1 6 713

Gene and significance breakdown #

Total genes and gene combinations: 576
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARID1B 2 3 0 0 0 5
TTN 1 2 2 0 0 5
ACADVL 1 2 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
PTPN11 4 0 0 0 0 4
ABCB11 2 1 0 0 0 3
ASPM 1 2 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
GAA 1 1 1 0 0 3
GALNS 2 1 0 0 0 3
LAMA2 1 2 0 0 0 3
MYO7A 1 2 0 0 0 3
NALCN 0 2 1 0 0 3
PKD1 1 0 2 0 0 3
PKHD1 0 2 1 0 0 3
PMS2 1 1 1 0 0 3
RFXANK 0 1 2 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
ARSB 1 1 0 0 0 2
ASNS, CZ1P-ASNS 0 1 1 0 0 2
ATF6 0 2 0 0 0 2
ATP7B 2 0 0 0 0 2
ATP8A2 0 2 0 0 0 2
C2CD3 0 0 2 0 0 2
CBL 0 2 0 0 0 2
CC2D1A 1 0 1 0 0 2
CCN6 1 0 1 0 0 2
CEL 0 2 0 0 0 2
CHD7 0 1 1 0 0 2
CLN5, FBXL3 1 0 1 0 0 2
CLN8 0 2 0 0 0 2
COL2A1 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
CTNNB1 1 1 0 0 0 2
CUL7 1 0 1 0 0 2
CYP1B1 1 1 0 0 0 2
CYP21A2, LOC106780800 1 1 0 0 0 2
CYP27B1 2 0 0 0 0 2
CYP4F22 1 0 1 0 0 2
DLD 1 1 0 0 0 2
DSP 0 1 1 0 0 2
ECEL1 2 0 0 0 0 2
ELAC2 1 0 1 0 0 2
FBN1 0 2 0 0 0 2
FKRP 1 1 0 0 0 2
GALT 1 1 0 0 0 2
GRIN2B 0 1 1 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 0 2
HEXB 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
KCNA2 1 1 0 0 0 2
KCNB1 1 1 0 0 0 2
KCNQ1 1 0 1 0 0 2
KCNQ2 0 1 1 0 0 2
KIAA0556 0 2 0 0 0 2
LARP7, MIR302CHG 1 1 0 0 0 2
LRPPRC 0 2 0 0 0 2
MAP3K7 0 1 1 0 0 2
MED12 0 0 2 0 0 2
MEFV 2 0 0 0 0 2
MHRT, MYH7 0 0 2 0 0 2
MPDZ 1 0 1 0 0 2
MRE11 1 0 1 0 0 2
MTHFR 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
NPR2, SPAG8 0 2 0 0 0 2
OXCT1 1 1 0 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
RAB3GAP1 1 1 0 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
SKIV2L 1 1 0 0 0 2
SLC13A5 1 0 1 0 0 2
SLC26A4 1 1 0 0 0 2
SNX14 0 1 1 0 0 2
SPTA1 0 1 1 0 0 2
TALDO1 1 0 1 0 0 2
TBCD 1 0 1 0 0 2
TBX19 0 1 1 0 0 2
TRAPPC11 0 1 1 0 0 2
TTC37 0 1 1 0 0 2
TUBA1A 1 1 0 0 0 2
VPS13B 1 1 0 0 0 2
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
ACADS 0 1 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
AGPAT2 0 1 0 0 0 1
AHDC1 0 1 0 0 0 1
AKR1D1 0 0 1 0 0 1
ALDOB 1 0 0 0 0 1
ALMS1 0 1 0 0 0 1
ALOX12B 0 0 1 0 0 1
ANKRD11 0 1 0 0 0 1
ANKRD26 0 1 0 0 0 1
APC 0 0 0 0 1 1
APOB 1 0 0 0 0 1
AQP2, LOC101927318 0 1 0 0 0 1
ARHGEF2 0 0 1 0 0 1
ARHGEF9 0 1 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
ASS1 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
BBS4 0 1 0 0 0 1
BBS9 0 1 0 0 0 1
BCOR 0 1 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 1
BPTF 0 0 1 0 0 1
BRWD3 0 0 1 0 0 1
BTD 0 1 0 0 0 1
C12orf57 1 0 0 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 0 0 1 0 0 1
CBS 0 1 0 0 0 1
CC2D2A 1 0 0 0 0 1
CCDC78 0 1 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
CDKN1B 0 0 1 0 0 1
CEP152 0 1 0 0 0 1
CEP164 0 0 1 0 0 1
CEP290 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
CFTR 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 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
CPT2 0 0 1 0 0 1
CREBBP 0 0 1 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
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
DDX59 0 1 0 0 0 1
DEAF1 0 0 1 0 0 1
DGUOK 1 0 0 0 0 1
DHCR7 0 0 1 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
DNAH5 0 0 1 0 0 1
DNAJC12 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
DSC2 0 0 1 0 0 1
DSE 0 0 1 0 0 1
DSTYK 0 0 1 0 0 1
DUPD1, KAT6B 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
EBF3 0 1 0 0 0 1
ECHS1 0 0 1 0 0 1
EDAR 1 0 0 0 0 1
EDN1 0 0 1 0 0 1
EFEMP2 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
EXT1 1 0 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
FAR1 0 1 0 0 0 1
FARS2 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
FLG, FLG2 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
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
GBE1 1 0 0 0 0 1
GCSH 0 0 1 0 0 1
GDAP1 0 1 0 0 0 1
GDF5 0 0 1 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
GNE 1 0 0 0 0 1
GORAB 1 0 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
IL4I1, NUP62 0 0 1 0 0 1
INCA1, KIF1C 0 1 0 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
KAT6A 0 1 0 0 0 1
KCNK3 0 0 1 0 0 1
KCNQ1, KCNQ1OT1 0 0 1 0 0 1
KCTD7 0 1 0 0 0 1
KDM5C 0 0 1 0 0 1
KIAA0586 0 1 0 0 0 1
KIAA1109 0 0 1 0 0 1
KIF11 0 0 1 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
KNL1 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
LMBRD1 0 0 1 0 0 1
LMNA 0 0 0 0 1 1
LOC101927870, RELN 0 1 0 0 0 1
LOC101928335, MID2 0 1 0 0 0 1
LOC107303340, VHL 0 1 0 0 0 1
LONP1 0 0 1 0 0 1
LPAR6, RB1 1 0 0 0 0 1
LRBA 0 1 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
MAN1B1 0 1 0 0 0 1
MAPK8IP3 0 0 1 0 0 1
MAPKBP1 0 1 0 0 0 1
MC4R 1 0 0 0 0 1
MCFD2 0 0 1 0 0 1
MCOLN1 1 0 0 0 0 1
MECP2 1 0 0 0 0 1
MICU1 0 1 0 0 0 1
MKKS 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
MMUT 1 0 0 0 0 1
MPIG6B 0 0 1 0 0 1
MSH2 0 0 1 0 0 1
MTHFD1 1 0 0 0 0 1
MTMR2 0 0 1 0 0 1
MYBPC1 0 0 1 0 0 1
MYH3 0 1 0 0 0 1
MYH7 0 1 0 0 0 1
MYO5A 0 0 1 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
NDUFV1 0 1 0 0 0 1
NEB 0 0 1 0 0 1
NFIB 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
NPHP3, NPHP3-ACAD11 0 1 0 0 0 1
NPHS1 1 0 0 0 0 1
NPR2 0 1 0 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
OFD1 0 1 0 0 0 1
OTOF 0 1 0 0 0 1
P3H1 0 0 1 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
PCCB 1 0 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
PINK1 0 1 0 0 0 1
PKD2 0 1 0 0 0 1
PLA2G6 0 1 0 0 0 1
PLCE1 1 0 0 0 0 1
PMM2 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
PORCN 0 1 0 0 0 1
PRF1 1 0 0 0 0 1
PRG4 1 0 0 0 0 1
PROC 1 0 0 0 0 1
PROKR2 0 1 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
PSTPIP1 0 0 1 0 0 1
PTDSS1 0 0 1 0 0 1
PTEN 0 1 0 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
RBCK1 0 0 1 0 0 1
RETREG1 0 1 0 0 0 1
RFT1 0 0 1 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
RPGRIP1 1 0 0 0 0 1
RUNX1 1 0 0 0 0 1
RUNX2 0 0 1 0 0 1
SATB2 0 0 1 0 0 1
SCN1A 0 0 1 0 0 1
SCN1B 0 0 1 0 0 1
SCN3A 0 0 1 0 0 1
SCO2, TYMP 1 0 0 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
SLC2A10 0 1 0 0 0 1
SLC2A9 0 1 0 0 0 1
SLC36A2 0 0 1 0 0 1
SLC37A4 0 1 0 0 0 1
SLC39A8 0 0 1 0 0 1
SLC3A1 1 0 0 0 0 1
SLC45A2 0 1 0 0 0 1
SLC52A3 0 1 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
SMAD6 0 0 1 0 0 1
SMG9 1 0 0 0 0 1
SMPD1 0 1 0 0 0 1
SMS 0 0 1 0 0 1
SNHG14, UBE3A 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
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
TBC1D24 0 0 1 0 0 1
TBCE 1 0 0 0 0 1
TBK1 0 0 1 0 0 1
TBX4 0 0 1 0 0 1
TCIRG1 0 0 1 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
TMPRSS3 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
TSC1 1 0 0 0 0 1
TSC2 0 0 0 0 1 1
TTC25 0 0 1 0 0 1
TUBA8 0 0 1 0 0 1
TUBB2A 0 1 0 0 0 1
TUBB2B 0 0 1 0 0 1
TULP1 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
UNC80 0 1 0 0 0 1
USB1 0 1 0 0 0 1
USH1G 0 1 0 0 0 1
USH2A 0 1 0 0 0 1
USP9X 0 0 1 0 0 1
VARS1 0 0 1 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
XPC 0 1 0 0 0 1
XYLT2 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: 580
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Coffin-Siris syndrome 1 2 3 0 0 0 5
Familial hypercholesterolemia 1 2 2 0 0 1 5
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 0 0 0 0 4
Fanconi anemia, complementation group D1 2 1 0 0 1 4
Neurofibromatosis, type 1 2 1 1 0 0 4
Very long chain acyl-CoA dehydrogenase deficiency 1 2 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
Bare lymphocyte syndrome 2 0 1 2 0 0 3
Epilepsy, familial focal, with variable foci 2 0 3 0 0 0 3
Glycogen storage disease, type II 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
Merosin deficient congenital muscular dystrophy 1 2 0 0 0 3
Microcephaly 17, primary, autosomal recessive 0 0 3 0 0 3
Mucopolysaccharidosis, MPS-IV-A 2 1 0 0 0 3
Polycystic kidney disease, adult type 1 0 2 0 0 3
Primary autosomal recessive microcephaly 5 1 2 0 0 0 3
Progressive familial intrahepatic cholestasis 2 2 1 0 0 0 3
Propionyl-CoA carboxylase deficiency 2 0 0 1 0 3
Turcot syndrome 1 1 1 0 0 3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 1 0 0 0 2
Achromatopsia 7 0 2 0 0 0 2
Acrocapitofemoral dysplasia 0 1 1 0 0 2
Adrenocorticotropic hormone deficiency 0 1 1 0 0 2
Alazami syndrome 1 1 0 0 0 2
Aortic aneurysm, familial thoracic 4 1 0 0 0 1 2
Apparent mineralocorticoid excess 0 1 1 0 0 2
Arthrogryposis, distal, with impaired proprioception and touch 0 2 0 0 0 2
Asparagine synthetase deficiency 0 1 1 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 congenital ichthyosis 5 1 0 1 0 0 2
C1q deficiency 1 0 1 0 0 2
CHARGE association 0 1 1 0 0 2
COL6A3-related phenotype 0 0 2 0 0 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 0 2 0 0 0 2
Ceroid lipofuscinosis neuronal 5 1 0 1 0 0 2
Ceroid lipofuscinosis neuronal 8 0 2 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 1 0 0 0 2
Coenzyme Q10 deficiency, primary, 4 0 1 1 0 0 2
Cohen syndrome 1 1 0 0 0 2
Combined oxidative phosphorylation deficiency 17 1 0 1 0 0 2
Deafness, autosomal recessive 3 0 1 1 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 1 0 0 0 2
Deficiency of transaldolase 1 0 1 0 0 2
Dilated cardiomyopathy 1S 0 1 1 0 0 2
Dilated cardiomyopathy with woolly hair and keratoderma 0 1 1 0 0 2
Distal arthrogryposis type 5D 2 0 0 0 0 2
Distal myopathy Markesbery-Griggs type 0 1 1 0 0 2
Eichsfeld type congenital muscular dystrophy 0 0 2 0 0 2
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 1 0 1 0 0 2
Epileptic encephalopathy, early infantile, 25 1 0 1 0 0 2
Epileptic encephalopathy, early infantile, 26 1 1 0 0 0 2
Epileptic encephalopathy, early infantile, 27 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 32 1 1 0 0 0 2
Familial mediterranean fever, autosomal dominant 2 0 0 0 0 2
Glaucoma 3, primary congenital, A 1 1 0 0 0 2
Glucocorticoid deficiency with achalasia 1 0 1 0 0 2
Glutaric aciduria, type 2 0 2 0 0 0 2
Glycogen storage disease type III 1 0 1 0 0 2
Helsmoortel-Van der Aa Syndrome 0 2 0 0 0 2
Homocysteinemia due to MTHFR deficiency 1 0 1 0 0 2
Hydrocephalus, congenital, 2, with or without brain or eye anomalies 1 0 1 0 0 2
Joubert syndrome 1 1 1 0 0 0 2
Joubert syndrome 26 0 2 0 0 0 2
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 1 1 0 0 2
Leigh syndrome, French Canadian type 0 2 0 0 0 2
Leukoencephalopathy with vanishing white matter 0 1 1 0 0 2
Limb-girdle muscular dystrophy, type 2J 1 1 0 0 0 2
Limb-girdle muscular dystrophy, type 2S 0 1 1 0 0 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 1 1 0 0 0 2
Lissencephaly 3 1 1 0 0 0 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 0 1 1 0 0 2
Maple syrup urine disease, type 3 1 1 0 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
Mental retardation, autosomal dominant 19 1 1 0 0 0 2
Mental retardation, autosomal recessive 3 1 0 1 0 0 2
Mucopolysaccharidosis type VI 1 1 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 2 1 0 1 0 0 2
Nephrotic syndrome, type 3 1 0 1 0 0 2
Non-ketotic hyperglycinemia 0 0 2 0 0 2
Noonan syndrome 1 2 0 0 0 0 2
Noonan syndrome 8 1 1 0 0 0 2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 2 0 0 0 2
Obesity 0 0 2 0 0 2
Orofaciodigital syndrome xiv 0 0 2 0 0 2
PTPN11-related disorder 2 0 0 0 0 2
Pendred syndrome 1 1 0 0 0 2
Progressive pseudorheumatoid dysplasia 1 0 1 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 0 1 1 0 0 2
Sandhoff disease 2 0 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 15 0 0 2 0 0 2
Spinocerebellar ataxia, autosomal recessive 20 0 1 1 0 0 2
Succinyl-CoA acetoacetate transferase deficiency 1 1 0 0 0 2
Three M syndrome 1 1 0 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
Vitamin D-dependent rickets, type 1 2 0 0 0 0 2
Warburg micro syndrome 1 1 1 0 0 0 2
Wilson disease 2 0 0 0 0 2
X-linked MED12-related disorder 0 0 2 0 0 2
46,XY sex reversal, type 3 0 1 0 0 0 1
ABCC8-related disorder 0 0 1 0 0 1
ALKURAYA-KUCINSKAS SYNDROME 0 0 1 0 0 1
ARTHROGRYPOSIS, DISTAL, TYPE 2B3 0 1 0 0 0 1
Acrofacial dysostosis, Cincinnati type 0 0 1 0 0 1
Adams-Oliver syndrome 6 0 1 0 0 0 1
Adolescent nephronophthisis 0 1 0 0 0 1
Adult junctional epidermolysis bullosa 0 0 1 0 0 1
Aicardi Goutieres syndrome 2 0 1 0 0 0 1
Aicardi Goutieres syndrome 4 1 0 0 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
Anemia, hypochromic microcytic, with iron overload 1 0 1 0 0 0 1
Angelman syndrome 0 0 1 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 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, neurogenic, with myelin defect 0 1 0 0 0 1
Ataxia, spastic, 2, autosomal recessive 0 1 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 1
Athabaskan brainstem dysgenesis 1 0 0 0 0 1
Autism 17 0 1 0 0 0 1
Autism, susceptibility to, X-linked 6 0 0 1 0 0 1
Autosomal dominant MYH7-related disorder 0 0 1 0 0 1
Autosomal dominant SCN1A-related disorder 0 0 1 0 0 1
Autosomal recessive AGK-related phenotype 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 2 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 9 0 0 1 0 0 1
Autosomal recessive cutis laxa type 1B 0 1 0 0 0 1
Autosomal recessive cutis laxa type 2B 0 1 0 0 0 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 1 0 0 0 0 1
BAKER-GORDON SYNDROME 0 1 0 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 0 0 1
Bainbridge-Ropers syndrome 0 1 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
Bardet-Biedl syndrome 9 0 1 0 0 0 1
Beaulieu-Boycott-Innes syndrome 0 1 0 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 1 0 0 0 1
Bile acid synthesis defect, congenital, 2 0 0 1 0 0 1
Biotin-thiamine-responsive basal ganglia disease 1 0 0 0 0 1
Biotinidase deficiency 0 1 0 0 0 1
Blepharocheilodontic syndrome 2 1 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 0 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 0 1
CNTNAP1-related disease 0 1 0 0 0 1
CODAS syndrome 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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1 0 0 0 0 1
COMP-related disorders 0 1 0 0 0 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 0 0 1 0 0 1
Camptodactyly arthropathy coxa vara pericarditis syndrome 1 0 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 0 0 1
Carnitine palmitoyltransferase II deficiency, infantile 0 0 1 0 0 1
Cataract 41 0 0 1 0 0 1
Cataract, autosomal recessive congenital 4 0 1 0 0 0 1
Cataract, congenital nuclear, autosomal recessive 3 1 0 0 0 0 1
Cerebral cavernous malformation 0 1 0 0 0 1
Cerebral palsy, spastic quadriplegic, 1 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 6 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2K 0 1 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 4F 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4B1 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type 4D 0 1 0 0 0 1
Child syndrome 0 1 0 0 0 1
Cholestasis, progressive familial intrahepatic 1 0 1 0 0 0 1
Chondrodysplasia punctata 1, X-linked recessive 1 0 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
Ciliary dyskinesia, primary, 29 0 1 0 0 0 1
Ciliary dyskinesia, primary, 3 0 0 1 0 0 1
Ciliary dyskinesia, primary, 35 0 0 1 0 0 1
Citrullinemia type I 1 0 0 0 0 1
Cleidocranial dysostosis 0 0 1 0 0 1
Cockayne syndrome B 1 0 0 0 0 1
Coenzyme Q10 deficiency, primary 1 0 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 5 0 1 0 0 0 1
Combined deficiency of sialidase AND beta galactosidase 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 11 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 14 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 23 0 1 0 0 0 1
Common variable immunodeficiency 8, with autoimmunity 0 1 0 0 0 1
Complement component 6 deficiency 0 1 0 0 0 1
Cone-rod dystrophy 7 0 1 0 0 0 1
Congenital anomalies of kidney and urinary tract 1, susceptibility to 0 0 1 0 0 1
Congenital disorder of glycosylation type 1J 0 1 0 0 0 1
Congenital disorder of glycosylation type 1N 0 0 1 0 0 1
Congenital disorder of glycosylation type 1t 0 0 1 0 0 1
Congenital disorder of glycosylation type 2i 0 0 1 0 0 1
Congenital disorder of glycosylation, type Ia 0 1 0 0 0 1
Congenital generalized lipodystrophy type 1 0 1 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 microvillous atrophy 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 3 1 0 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 5 0 1 0 0 0 1
Cowden syndrome 1 0 1 0 0 0 1
Cranioectodermal dysplasia 2 0 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 0 1 0 0 0 1
Cystic fibrosis 1 0 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
Deafness and myopia 0 0 1 0 0 1
Deafness, autosomal dominant 1 0 1 0 0 0 1
Deafness, autosomal dominant 11 0 1 0 0 0 1
Deafness, autosomal dominant 22 0 0 1 0 0 1
Deafness, autosomal dominant 65 0 0 1 0 0 1
Deafness, autosomal recessive 28 0 0 1 0 0 1
Deafness, autosomal recessive 8 1 0 0 0 0 1
Deafness, autosomal recessive 9 0 1 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 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
Dermatofibrosis lenticularis disseminata 0 0 1 0 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 0 0 1
Diarrhea 8, secretory sodium, congenital 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 0 0 1 1
Distal arthrogryposis type 1B 0 0 1 0 0 1
Distal hereditary motor neuronopathy 2D 0 0 1 0 0 1
Dubin-Johnson syndrome 1 0 0 0 0 1
ELN-related disorder 0 0 1 0 0 1
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 0 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 0 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 0 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 0 1 0 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 0 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 0 1 0 0 0 1
Early infantile epileptic encephalopathy 18 0 0 1 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 0 1
Early infantile epileptic encephalopathy 7 0 0 1 0 0 1
Early infantile epileptic encephalopathy 8 0 1 0 0 0 1
Early myoclonic encephalopathy 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 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
Epilepsy, childhood absence 6 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 0 0 1
Epilepsy, idiopathic generalized 10 0 0 1 0 0 1
Epilepsy, nocturnal frontal lobe, type 4 0 0 1 0 0 1
Epilepsy, progressive myoclonic 3 0 1 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 1
Epileptic encephalopathy, early infantile, 19 0 0 1 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 0 1
Exudative vitreoretinopathy 1 0 0 1 0 0 1
Factor v and factor viii, combined deficiency of, 2 0 0 1 0 0 1
Failure of tooth eruption, primary 1 0 0 0 0 1
Familial adenomatous polyposis 1 0 0 0 0 1 1
Familial platelet disorder with associated myeloid malignancy 1 0 0 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 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
GLI3-related postaxial polydactyly 0 0 1 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
Glanzmann thrombasthenia 0 1 0 0 0 1
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 0 1 0 0 0 1
Glucose-6-phosphate transport defect 0 1 0 0 0 1
Gluthathione synthetase deficiency 1 0 0 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 1
Gordon Holmes syndrome 0 0 1 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
Harel-Yoon syndrome 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
Hemophagocytic lymphohistiocytosis, familial, 2 1 0 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 4 0 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 5 1 0 0 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 0 1
Hereditary fructosuria 1 0 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 1 0 0 0 0 1
Hereditary sensory and autonomic neuropathy type IIB 0 1 0 0 0 1
Hermansky-Pudlak syndrome 5 0 0 1 0 0 1
Homocystinuria due to CBS deficiency 0 1 0 0 0 1
Hydrops, lactic acidosis, and sideroblastic anemia 0 0 1 0 0 1
Hyperglycinuria 0 0 1 0 0 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 1 0 0 0 1
Hypermethioninemia due to adenosine kinase deficiency 0 1 0 0 0 1
Hyperphenylalaninemia, mild, non-bh4-deficient 1 0 0 0 0 1
Hyperphosphatasia with mental retardation syndrome 4 0 1 0 0 0 1
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 1 0 0 0 0 1
Hypoparathyroidism retardation dysmorphism syndrome 1 0 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 0 1
Hypotrichosis 8 1 0 0 0 0 1
IMMUNODEFICIENCY 57 0 1 0 0 0 1
INSR-related disorder 0 0 1 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 0 1 0 0 0 1
ISPD-Related Disorder 0 1 0 0 0 1
Immunodeficiency 29 0 0 1 0 0 1
Immunodeficiency 46 0 0 1 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 cerebellar-retinal degeneration 0 0 1 0 0 1
Insulin-like growth factor 1 resistance to 0 0 1 0 0 1
Iodotyrosyl coupling defect 0 1 0 0 0 1
Ischiopatellar dysplasia 0 0 1 0 0 1
JABERI-ELAHI SYNDROME 0 1 0 0 0 1
Johanson-Blizzard syndrome 1 0 0 0 0 1
Joubert syndrome 21 1 0 0 0 0 1
Joubert syndrome 23 0 1 0 0 0 1
Joubert syndrome 5 0 1 0 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz 0 0 1 0 0 1
Juvenile macular degeneration and hypotrichosis 0 1 0 0 0 1
KBG syndrome 0 1 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 0 1
Kabuki syndrome 1 0 1 0 0 0 1
Kallmann syndrome 3 0 1 0 0 0 1
Knobloch syndrome 1 0 1 0 0 0 1
LEUKODYSTROPHY, HYPOMYELINATING, 15 0 0 1 0 0 1
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION 0 0 1 0 0 1
LTBP2-related Disorder 0 0 1 0 0 1
Lamb-shaffer syndrome 0 0 1 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
Leukodystrophy, hypomyelinating, 10 0 0 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 1
Lissencephaly 2 0 1 0 0 0 1
Lissencephaly 4 0 0 1 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 1
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 0 1 0 0 0 1
MAP3K7-related disorder 0 0 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 0 0 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 0 1 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 0 0 1 0 0 1
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 0 0 1 0 0 1
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 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
MSH2-related disorder 0 0 1 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 1 0 0 0 0 1
Mast cell disease, systemic 0 0 1 0 0 1
Meckel syndrome, type 11 0 0 1 0 0 1
Megaloblastic anemia due to inborn errors of metabolism 0 0 1 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 1 0 0 0 1
Mental retardation, X-linked 101 0 1