ClinVar Miner

Variants from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Location: Saudi Arabia  Primary collection method: research
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
139 530 58 31 2 751

Gene and significance breakdown #

Total genes and gene combinations: 537
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 0 17 0 1 0 18
TMEM67 3 4 0 0 0 7
ALMS1 2 4 0 0 0 6
BBS2 1 3 0 1 0 5
DYM 0 5 0 0 0 5
IMPG2 0 4 0 1 0 5
MKS1 4 2 0 0 0 5
NR2E3 0 5 0 0 0 5
PKHD1 0 5 0 0 0 5
ABCC9 0 2 1 1 0 4
BBS1, ZDHHC24 2 1 1 0 0 4
BBS4 3 1 0 0 0 4
BBS9 4 1 0 0 0 4
CEP290 2 2 0 0 0 4
COL1A1 0 4 0 0 0 4
CTU2 4 0 0 0 0 4
CUL7 1 4 0 0 0 4
GUSB 0 4 0 0 0 4
PDE6C 0 4 0 0 0 4
RTTN 0 4 0 0 0 4
ABCA4 0 3 0 0 0 3
AHI1 1 2 0 0 0 3
ASPM 0 3 0 0 0 3
ASXL1 0 1 1 1 0 3
BBS5 0 3 0 0 0 3
BLTP1 2 1 0 0 0 3
CAPN3 0 3 0 0 0 3
CC2D2A 0 3 0 0 0 3
CDHR1 0 3 0 0 0 3
CHRNA1 0 1 2 0 0 3
CNGA3 0 3 0 0 0 3
COL11A2 1 1 1 0 0 3
COL4A4 0 3 0 0 0 3
CPLANE1 0 2 1 0 0 3
CRB1 0 3 0 0 0 3
DCAF17 0 3 0 0 0 3
DYSF 0 3 0 0 0 3
EVC 1 2 0 0 0 3
FKTN 1 2 0 0 0 3
HSD17B4 1 2 0 0 0 3
MERTK 0 3 0 0 0 3
NEB 2 1 0 0 0 3
NPHP4 0 3 0 0 0 3
PEX1 1 2 0 0 0 3
PEX12 1 2 0 0 0 3
RAG2 0 3 0 0 0 3
RYR2 0 2 1 0 0 3
SLC17A5 2 1 0 0 0 3
TCTN1 2 1 0 0 0 3
TCTN2 0 3 0 0 0 3
TMEM231 2 1 0 0 0 3
TRIP11 3 0 0 0 0 3
WDR19 1 3 0 0 0 3
WDR81 1 2 0 0 0 3
AGRN 0 0 0 2 0 2
ANK2, LOC126807137 0 1 1 0 0 2
ARFGEF2 0 2 0 0 0 2
ARID1B 0 1 0 1 0 2
ARL13B 0 2 0 0 0 2
ATP1A3 2 0 0 0 0 2
B4GAT1 1 1 0 0 0 2
BBS7 2 0 0 0 0 2
BRCA2 1 0 0 1 0 2
C1QTNF5, MFRP 0 2 0 0 0 2
CACNA1F 0 0 0 2 0 2
CD40LG 0 2 0 0 0 2
CDH23 0 2 0 0 0 2
CHD7 0 1 0 1 0 2
COQ8A 0 2 0 0 0 2
CRIPT 2 0 0 0 0 2
CRX 0 2 0 0 0 2
CTSA 1 2 0 0 0 2
DCLRE1C 0 2 0 0 0 2
DMD 0 2 0 0 0 2
DSG2 0 2 0 0 0 2
DYNC2H1 1 1 0 0 0 2
DYNC2I1 0 2 0 0 0 2
ECEL1 0 2 0 0 0 2
EHBP1L1 0 0 2 0 0 2
ETFA 1 1 0 0 0 2
EVC2 1 1 0 0 0 2
EXOC3L2 1 1 0 0 0 2
FKBP10 0 2 0 0 0 2
FKRP 0 1 0 1 0 2
FLVCR2 0 2 0 0 0 2
FRAS1 0 2 0 0 0 2
GATAD1, PEX1 1 1 0 0 0 2
GDAP1 0 2 0 0 0 2
GUCY2D 0 2 0 0 0 2
IFT122 1 2 0 0 0 2
IFT56 1 1 0 0 0 2
IL7R 0 2 0 0 0 2
INO80 0 2 0 0 0 2
INVS 1 1 0 0 0 2
JAK3 0 2 0 0 0 2
KATNIP 0 2 0 0 0 2
KIAA0586 1 1 0 0 0 2
KIF19 2 0 0 0 0 2
LAMA2 0 2 0 0 0 2
LAMB2 0 2 0 0 0 2
LAMB3 1 1 0 0 0 2
LARS2 0 2 0 0 0 2
MCPH1 0 2 0 0 0 2
MLPH 0 2 0 0 0 2
MYBPC3 0 2 0 0 0 2
MYO7A 0 2 0 0 0 2
NFIX 0 2 0 0 0 2
NOTCH1 0 2 0 0 0 2
NPHP3, NPHP3-ACAD11 1 1 0 0 0 2
NSD1 0 2 0 0 0 2
PCNT 1 2 0 0 0 2
PLA2G6 1 1 0 0 0 2
POMGNT2 1 1 0 0 0 2
RAG1 0 2 0 0 0 2
RLBP1 0 2 0 0 0 2
RP1 0 2 0 0 0 2
SMG9 0 2 0 0 0 2
SOS1 0 2 0 0 0 2
SPART 0 2 0 0 0 2
THSD1 0 2 0 0 0 2
TMEM138 1 1 0 0 0 2
TNFRSF11B 0 2 0 0 0 2
TULP1 0 2 0 0 0 2
TXNDC15 0 2 0 0 0 2
UBR1 1 1 0 0 0 2
UNC80 0 2 0 0 0 2
USH2A 0 1 0 1 0 2
ZNF668 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
ABAT 0 1 0 0 0 1
ABCA3 1 0 0 0 0 1
ABCA4, LOC126805793 0 1 0 0 0 1
ABCB4 0 1 0 0 0 1
ABCC2 0 1 0 0 0 1
ABHD12 0 0 0 1 0 1
ACE 0 1 0 0 0 1
ACOX1 1 0 0 0 0 1
ACTB 0 1 0 0 0 1
ACTN2 0 0 1 0 0 1
ACYP1, NPC2 0 1 0 0 0 1
ADAT3, SCAMP4 0 1 0 0 0 1
ADK 0 1 0 0 0 1
ADRA2B 0 1 0 0 0 1
AGT 0 1 0 0 0 1
AICDA 0 1 0 0 0 1
AIPL1 0 1 0 0 0 1
AK2 0 1 0 0 0 1
ALDH18A1 0 1 0 0 0 1
ALDH3A2 0 1 0 0 0 1
ALMS1, LOC126806252 0 1 0 0 0 1
ALPL 1 0 0 0 0 1
ALS2 0 1 0 0 0 1
AMPD2, LOC126805822 0 1 0 0 0 1
ANK2 0 0 1 0 0 1
ANKRD1 0 1 0 0 0 1
ANKS3 0 0 1 0 0 1
AP4M1 0 1 0 0 0 1
ARHGEF6 0 0 1 0 0 1
ARL14EP 0 1 0 0 0 1
ARL6 0 1 0 0 0 1
ARV1 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASCC1 1 0 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 0 1
ATL1 0 1 0 0 0 1
ATN1 0 1 0 0 0 1
ATP11C 1 0 0 0 0 1
ATP2B3 0 0 1 0 0 1
ATRX 0 1 0 0 0 1
B3GAT3 1 0 0 0 0 1
B4GALT7 0 1 0 0 0 1
B9D1 0 1 0 0 0 1
BAAT 0 1 0 0 0 1
BAG3 0 1 0 0 0 1
BBIP1 1 0 0 0 0 1
BBS1 1 0 0 0 0 1
BBS10 1 0 0 0 0 1
BCS1L 1 0 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 1 0 0 0 1
BLM 0 1 0 0 0 1
C12orf4 0 1 0 0 0 1
C12orf57 0 1 0 0 0 1
C19orf12 0 1 0 0 0 1
C1orf105, PIGC 0 1 0 0 0 1
CACNA1C 0 1 0 0 0 1
CACNA1G 0 1 0 0 0 1
CANT1 1 0 0 0 0 1
CBX3 0 0 1 0 0 1
CCDC172 0 0 1 0 0 1
CCDC68 0 1 0 0 0 1
CCDC88C 0 1 0 0 0 1
CCDC96, LOC100129931 0 0 1 0 0 1
CCNO 0 1 0 0 0 1
CD247 0 0 1 0 0 1
CDK5RAP2 0 1 0 0 0 1
CELSR2 0 1 0 0 0 1
CENPH 0 0 1 0 0 1
CENPJ 0 1 0 0 0 1
CEP295 0 0 1 0 0 1
CEP55 1 0 0 0 0 1
CEP57 0 1 0 0 0 1
CERKL 0 1 0 0 0 1
CFAP73, DDX54, DTX1, IQCD, LHX5, OAS1, OAS2, OAS3, PLBD2, RASAL1, RBM19, RITA1, RPH3A, SDS, SDSL, SLC8B1, TBX3, TBX5, TPCN1 1 0 0 0 0 1
CFTR 0 1 0 0 0 1
CHAF1B 0 1 0 0 0 1
CHAT 0 0 1 0 0 1
CHM 0 1 0 0 0 1
CHRNG 0 1 0 0 0 1
CHRNG, TIGD1 0 0 1 0 0 1
CIMIP2B 0 0 1 0 0 1
CLHC1 0 1 0 0 0 1
CLYBL, DOCK9, GGACT, GPR18, GPR183, PCCA, SLC15A1, STK24, TM9SF2, TMTC4, UBAC2, ZIC2, ZIC5 1 0 0 0 0 1
CNNM4 0 1 0 0 0 1
CNTNAP1 1 0 0 0 0 1
COG6 0 1 0 0 0 1
COL18A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COL1A2 0 1 0 0 0 1
COL2A1 0 1 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 1
COL4A6 0 1 0 0 0 1
COL6A1 0 1 0 0 0 1
COL6A2 0 1 0 0 0 1
COL6A3 0 1 0 0 0 1
COL7A1 0 1 0 0 0 1
COLEC11 0 0 1 0 0 1
COLGALT1 0 1 0 0 0 1
CPA6 0 1 0 0 0 1
CPT2 0 1 0 0 0 1
CREBBP 0 1 0 0 0 1
CRPPA 1 0 0 0 0 1
CRYBA1 0 1 0 0 0 1
CRYGC, LOC100507443 0 1 0 0 0 1
CRYGD, LOC100507443 0 1 0 0 0 1
CSPP1 0 1 0 0 0 1
CTSD 0 1 0 0 0 1
CYBB, LOC130068093 0 0 0 1 0 1
CYP27A1 0 1 0 0 0 1
CYP2U1 0 1 0 0 0 1
DCDC2, KAAG1 0 1 0 0 0 1
DDHD2 0 1 0 0 0 1
DDX39A 0 1 0 0 0 1
DEUP1 0 0 1 0 0 1
DIAPH1 0 1 0 0 0 1
DLAT 1 0 0 0 0 1
DLL3 0 1 0 0 0 1
DMAP1 0 0 1 0 0 1
DMBX1 0 1 0 0 0 1
DNA2 0 1 0 0 0 1
DNAH11 1 0 0 0 0 1
DNAH14 0 0 0 0 1 1
DOCK6 0 1 0 0 0 1
DOCK8 0 1 0 0 0 1
DPH1 1 1 0 0 0 1
DSP 0 1 0 0 0 1
DYNLT2B 1 0 0 0 0 1
EBP 0 1 0 0 0 1
EFEMP1 0 0 0 1 0 1
EHMT1 0 1 0 0 0 1
EHMT1, LOC651337 0 1 0 0 0 1
EML1, LOC126862047 0 0 1 0 0 1
EOGT 0 1 0 0 0 1
EP300 0 1 0 0 0 1
EPB41L4A 0 1 0 0 0 1
EPG5, PSTPIP2 1 0 0 0 0 1
EPHA2 0 1 0 0 0 1
ERCC2 1 0 0 0 0 1
ERCC8 0 1 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 1
EXT1 0 1 0 0 0 1
EYS 0 1 0 0 0 1
FAAH2 1 0 0 0 0 1
FAM120AOS 0 1 0 0 0 1
FAM149B1 0 1 0 0 0 1
FAM177A1 0 1 0 0 0 1
FAM20C 0 1 0 0 0 1
FAM98C 0 1 0 0 0 1
FAN1 0 1 0 0 0 1
FANCM 0 0 0 1 0 1
FARS2, LOC126859565 0 1 0 0 0 1
FBN2 0 1 0 0 0 1
FBXL4 0 1 0 0 0 1
FCRL4, LOC126805881 0 0 1 0 0 1
FEN1 0 0 1 0 0 1
FLG 0 0 0 1 0 1
FOXG1 0 1 0 0 0 1
FREM2 1 0 0 0 0 1
FSHR 0 0 1 0 0 1
FZD6 0 1 0 0 0 1
GAA 0 0 0 1 0 1
GAL3ST2 0 1 0 0 0 1
GALNT14 0 1 0 0 0 1
GBA2 0 1 0 0 0 1
GCNT2 0 1 0 0 0 1
GDF3 0 1 0 0 0 1
GEMIN4 0 1 0 0 0 1
GFPT1 1 0 0 0 0 1
GHRHR 0 1 0 0 0 1
GIGYF2, KCNJ13 0 1 0 0 0 1
GLRX5 1 0 0 0 0 1
GM2A 0 1 0 0 0 1
GNB5 0 1 0 0 0 1
GNPAT 1 0 0 0 0 1
GNPTAB 1 0 0 0 0 1
GNS 0 1 0 0 0 1
GPR179 0 1 0 0 0 1
GPX4 1 0 0 0 0 1
GTPBP3 0 0 1 0 0 1
GUSB, LOC126860055 0 1 0 0 0 1
H6PD 0 0 0 1 0 1
HEPACAM 0 1 0 0 0 1
HPS1 0 1 0 0 0 1
HSD3B7 0 1 0 0 0 1
HTRA2 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
IFT140 0 1 0 0 0 1
IFT25 0 0 1 0 0 1
IGF1, LINC02456 1 0 0 0 0 1
IGFBP7 1 0 0 0 0 1
ISCA2 0 1 0 0 0 1
ITGB4 1 0 0 0 0 1
KCNE2, LOC105372791 0 1 0 0 0 1
KCNH2 0 1 0 0 0 1
KCTD3 0 1 0 0 0 1
KCTD7 1 0 0 0 0 1
KIF1A 0 1 0 0 0 1
KIF7 0 1 0 0 0 1
KLHL41 0 1 0 0 0 1
KMT2A 0 1 0 0 0 1
KMT2D 0 1 0 0 0 1
KNL1 0 1 0 0 0 1
KRIT1 1 0 0 0 0 1
KRT83 0 1 0 0 0 1
L1CAM 0 1 0 0 0 1
LACC1 0 1 0 0 0 1
LAMA3 1 0 0 0 0 1
LARGE1 0 1 0 0 0 1
LCA5 0 1 0 0 0 1
LDB3 0 1 0 0 0 1
LFNG 0 0 1 0 0 1
LGI4 0 1 0 0 0 1
LIFR 0 1 0 0 0 1
LMNA 0 1 0 0 0 1
LOC110121269, SCN5A 0 1 0 0 0 1
LOC121725110, UNC80 0 1 0 0 0 1
LOC126805688, YARS1 0 1 0 0 0 1
LOC126806423, TTN 0 0 0 1 0 1
LOC126806425, TTN 0 1 0 0 0 1
LOC126806433, TTN 0 1 0 0 0 1
LOC126807212, TLL1 1 0 0 0 0 1
LOC126862246, TTC23 0 0 0 0 1 1
LOC127814297, POU4F3 0 1 0 0 0 1
LOC130065945, PABPC1L 0 1 0 0 0 1
LOC130068202, RP2 0 1 0 0 0 1
LOXHD1 0 0 0 1 0 1
LRAT 0 1 0 0 0 1
LRP5 0 1 0 0 0 1
LRPPRC 0 1 0 0 0 1
LRRC34 0 0 1 0 0 1
LRRCC1 0 1 0 0 0 1
LTBP2 0 1 0 0 0 1
LYST 0 1 0 0 0 1
MAPKBP1 0 1 0 0 0 1
MASP1 0 1 0 0 0 1
MATN4 0 1 0 0 0 1
MECP2 0 1 0 0 0 1
MED23 0 1 0 0 0 1
MFF 0 1 0 0 0 1
MFSD8 1 0 0 0 0 1
MGAT2 0 1 0 0 0 1
MMACHC 1 0 0 0 0 1
MMP2 0 1 0 0 0 1
MOCS3 0 0 1 0 0 1
MRI1 0 1 0 0 0 1
MSN 1 0 0 0 0 1
MTR 0 1 0 0 0 1
MTSS2 0 1 0 0 0 1
MTTP 0 0 1 0 0 1
MYBPHL 0 0 1 0 0 1
MYH11 1 0 0 0 0 1
MYH6 0 1 0 0 0 1
MYL3 0 1 0 0 0 1
MYOCD 0 1 0 0 0 1
MYOM1 0 1 0 0 0 1
MYPN 0 1 0 0 0 1
MZT2B, TUBA3E 0 1 0 0 0 1
NAXE 1 0 0 0 0 1
NDE1 0 0 1 0 0 1
NDUFS1 0 1 0 0 0 1
NECAP1 0 1 0 0 0 1
NEK1 1 1 0 0 0 1
NEK4 0 1 0 0 0 1
NEK8 0 1 0 0 0 1
NHEJ1 0 1 0 0 0 1
NHS 0 1 0 0 0 1
NID1 0 1 0 0 0 1
NLRP5 0 1 0 0 0 1
NLRP7 1 0 0 0 0 1
NMNAT1 0 1 0 0 0 1
NODAL 0 0 1 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 0 1
NPHS1 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
NUP107 0 1 0 0 0 1
NUP160 1 0 0 0 0 1
OBSL1 0 1 0 0 0 1
OCLN 0 1 0 0 0 1
OFD1 1 0 0 0 0 1
OPLAH 0 1 0 0 0 1
OPTN 0 1 0 0 0 1
OTOF 0 1 0 0 0 1
P3H1 0 1 0 0 0 1
PAX6 0 1 0 0 0 1
PCDHB4, PCDHB@ 0 1 0 0 0 1
PDE6D 0 1 0 0 0 1
PDGFRB 0 0 0 1 0 1
PDHA1 1 0 0 0 0 1
PDPR 0 0 0 1 0 1
PEX26 0 1 0 0 0 1
PEX6 0 1 0 0 0 1
PHC1 0 1 0 0 0 1
PHGDH 0 1 0 0 0 1
PIF1 0 0 1 0 0 1
PIGQ 0 1 0 0 0 1
PKD1 0 1 0 0 0 1
PKP2 0 1 0 0 0 1
PLK1 0 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 0 1
PNKP 0 1 0 0 0 1
PNPO 1 0 0 0 0 1
POC1A 0 1 0 0 0 1
POMT1 1 0 0 0 0 1
POMT2 0 1 0 0 0 1
PPP1R12B 0 0 1 0 0 1
PROM1 0 1 0 0 0 1
PRPF19 0 0 1 0 0 1
PRPH2 0 1 0 0 0 1
PRSS56 0 1 0 0 0 1
PTPN23 0 1 0 0 0 1
PTPRC 0 1 0 0 0 1
PTRH2 0 1 0 0 0 1
RAB3GAP1 0 1 0 0 0 1
RBBP8 1 0 0 0 0 1
RELN 0 1 0 0 0 1
REN 1 0 0 0 0 1
REXO4 0 0 1 0 0 1
RFXANK 0 1 0 0 0 1
RGS9 0 1 0 0 0 1
RIPK4 0 0 0 1 0 1
RNASEH2A 0 0 1 0 0 1
RNASEH2B 0 1 0 0 0 1
RNASEH2C 0 1 0 0 0 1
RNF216 0 1 0 0 0 1
ROR2 0 1 0 0 0 1
RPE65 0 1 0 0 0 1
RPGRIP1 0 1 0 0 0 1
RYR1 0 1 0 0 0 1
SBF1 0 1 0 0 0 1
SCARF2 0 1 0 0 0 1
SCN2A 0 1 0 0 0 1
SDCCAG8 1 0 0 0 0 1
SEC24D 0 1 0 0 0 1
SEPSECS 0 1 0 0 0 1
SERPINA11 0 0 1 0 0 1
SETX 0 1 0 0 0 1
SFTPB 0 0 0 1 0 1
SGCA 0 1 0 0 0 1
SLC13A5 0 1 0 0 0 1
SLC16A12 0 1 0 0 0 1
SLC25A19 0 1 0 0 0 1
SLC25A42 0 1 0 0 0 1
SLC4A4 0 1 0 0 0 1
SMAD4 0 1 0 0 0 1
SMARCD2 1 0 0 0 0 1
SNRNP200 0 1 0 0 0 1
SPATA7 0 1 0 0 0 1
SPDL1 0 1 0 0 0 1
SPG11 0 1 0 0 0 1
SPTBN2 0 1 0 0 0 1
ST7 0 1 0 0 0 1
STAT3 0 1 0 0 0 1
STXBP1 0 1 0 0 0 1
SUFU 0 1 0 0 0 1
SVOPL 0 0 1 0 0 1
SYNE2 0 1 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TAF6 0 1 0 0 0 1
TAPT1 1 0 0 0 0 1
TASP1 1 0 0 0 0 1
TBCK 0 1 0 0 0 1
TBX3 1 0 0 0 0 1
TCOF1 0 1 0 0 0 1
TGM1 0 1 0 0 0 1
TJP2 0 1 0 0 0 1
TLE6 0 1 0 0 0 1
TMEM17 0 0 1 0 0 1
TMEM237 0 1 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 1
TMEM92 0 1 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TOGARAM1 0 0 1 0 0 1
TP73 0 1 0 0 0 1
TRAK1 1 0 0 0 0 1
TRAPPC3 0 1 0 0 0 1
TRAPPC9 0 1 0 0 0 1
TRMT1 0 1 0 0 0 1
TRPM1 0 1 0 0 0 1
TSEN15 0 1 0 0 0 1
TTC21B 1 0 0 0 0 1
TTC6 0 0 1 0 0 1
TTC8 0 1 0 0 0 1
TUBA1A 0 1 0 0 0 1
TYMP 0 1 0 0 0 1
UBE3B 0 1 0 0 0 1
UBN1 0 1 0 0 0 1
UGCG 0 1 0 0 0 1
UPK3A 0 1 0 0 0 1
USP2 0 0 1 0 0 1
VAPB 0 0 0 1 0 1
VCL 0 0 0 1 0 1
VIPAS39 0 0 0 1 0 1
VPS13D 0 0 1 0 0 1
VRK1 0 1 0 0 0 1
WASHC5 0 1 0 0 0 1
WDPCP 1 0 0 0 0 1
WDR45B 0 1 0 0 0 1
WDR93 0 1 0 0 0 1
WFS1 0 0 1 0 0 1
WNK1 0 1 0 0 0 1
WWOX 0 1 0 0 0 1
XDH 0 0 0 1 0 1
XIRP1 0 1 0 0 0 1
XIRP2 0 0 1 0 0 1
XRCC4 1 0 0 0 0 1
ZMIZ2 0 0 1 0 0 1
ZNF526 0 1 0 0 0 1
ZP1 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 240
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 346 6 1 0 353
not specified 0 0 7 28 0 35
Non-immune hydrops fetalis 2 15 11 0 1 29
Meckel-Gruber syndrome 3 10 4 0 0 17
Bardet-Biedl syndrome 10 3 0 0 0 13
Asphyxiating thoracic dystrophy 3 4 3 0 0 0 7
Joubert syndrome and related disorders 3 4 0 0 0 7
Ateleiotic dwarfism 4 2 0 0 0 6
Familial aplasia of the vermis 0 2 3 1 0 6
Recurrent spontaneous abortion 0 1 5 0 0 6
Autosomal recessive polycystic kidney disease 0 4 0 0 0 4
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 4 0 0 0 0 4
Primary microcephaly 0 4 0 0 0 4
Achondrogenesis, type IA 3 0 0 0 0 3
Bardet-Biedl syndrome 1 1 1 1 0 0 3
Ellis-van Creveld syndrome 2 1 0 0 0 3
Encephalopathy 0 3 0 0 0 3
Global developmental delay; Typical Joubert syndrome MRI findings 0 3 0 0 0 3
Larsen-like syndrome, B3GAT3 type 1 1 1 0 0 3
Lethal multiple pterygium syndrome 0 0 3 0 0 3
Meckel syndrome, type 3 3 0 0 0 0 3
Mitochondrial encephalomyopathy; Global developmental delay 0 3 0 0 0 3
Renal tubular dysgenesis 1 2 0 0 0 3
Adams-Oliver syndrome 0 2 0 0 0 2
Alkuraya-Kucinskas syndrome 2 0 0 0 0 2
Alstrom syndrome 2 0 0 0 0 2
Alternating hemiplegia of childhood 2 2 0 0 0 0 2
Bardet-Biedl syndrome 2 0 1 0 1 0 2
Bardet-Biedl syndrome 7 2 0 0 0 0 2
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes 0 2 0 0 0 2
Combined deficiency of sialidase AND beta galactosidase 1 1 0 0 0 2
Cranioectodermal dysplasia 1 1 0 0 0 2
Failure to thrive; Progressive microcephaly; Profound global developmental delay; marked facial dysmorphism 2 0 0 0 0 2
Global developmental delay; Abnormal cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia 0 2 0 0 0 2
Infantile nephronophthisis 1 1 0 0 0 2
Joubert syndrome 13 2 0 0 0 0 2
Joubert syndrome 17 0 1 1 0 0 2
Joubert syndrome 3 1 1 0 0 0 2
Junctional epidermolysis bullosa gravis of Herlitz 2 0 0 0 0 2
Meckel syndrome, type 1 2 0 0 0 0 2
Meckel syndrome, type 6 0 2 0 0 0 2
Meckel-like syndrome 2 0 0 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 1 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 1 0 0 0 2
Nemaline myopathy 2 2 0 0 0 0 2
Orofacial-digital syndrome III 1 1 0 0 0 2
Orofaciodigital syndrome 0 0 1 0 1 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 0 2
Polycystic kidney disease 1 0 1 0 0 2
Seizure; Intellectual disability 0 2 0 0 0 2
Seizure; Intellectual disability; Primary microcephaly 0 2 0 0 0 2
Short-rib thoracic dysplasia 8 with or without polydactyly 0 2 0 0 0 2
Sialic acid storage disease, severe infantile type 2 0 0 0 0 2
3-methylglutaconic aciduria type 8 0 1 0 0 0 1
3M syndrome 1 1 0 0 0 0 1
Abetalipoproteinaemia 0 0 1 0 0 1
Abnormality of the skeletal system; Hirsutism; Abnormal facial shape; Intellectual disability, severe 0 1 0 0 0 1
Abnormality of the upper limb; Radial dysplasia 1 0 0 0 0 1
Acrocallosal syndrome 0 1 0 0 0 1
Acyl-CoA oxidase deficiency 1 0 0 0 0 1
Aicardi-Goutieres syndrome 4 0 0 1 0 0 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 1 0 0 0 1
Atrial septal defect 6 1 0 0 0 0 1
Autistic spectrum disorder with isolated skills 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 0 0 0 1
Band heterotopia of brain 0 0 1 0 0 1
Bardet-Biedl syndrome 15 1 0 0 0 0 1
Bardet-Biedl syndrome 16 1 0 0 0 0 1
Bardet-Biedl syndrome 18 1 0 0 0 0 1
Bardet-Biedl syndrome 8 0 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 1 0 0 0 0 1
Blepharophimosis 0 0 1 0 0 1
Blindness; Neurodegeneration 0 1 0 0 0 1
Brain small vessel disease 3 0 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, severe infantile form 0 1 0 0 0 1
Caroli disease 0 1 0 0 0 1
Cerebellar ataxia; Dysarthria; Spastic diplegia; Neurodegeneration; Elliptical nystagmus; Progressive limb weakness 0 1 0 0 0 1
Cerebellar ataxia; Global developmental delay; Failure to thrive; Dysarthria; Microcephaly; Strabismus 0 1 0 0 0 1
Cerebellar ataxia; Global developmental delay; Hearing impairment 0 1 0 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 1
Cerebrooculofacioskeletal syndrome 2 1 0 0 0 0 1
Charcot-Marie-Tooth disease 0 1 0 0 0 1
Ciliopathy 0 1 0 0 0 1
Classical primary microcephaly 0 1 0 0 0 1
Cobalamin C disease 1 0 0 0 0 1
Combined immunodeficiency due to moesin deficiency 1 0 0 0 0 1
Combined oxidative phosphorylation defect type 23 0 0 1 0 0 1
Complex lethal osteochondrodysplasia 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Seizure; Severe global developmental delay 0 1 0 0 0 1
Congenital lactic acidosis 0 0 1 0 0 1
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 0 0 0 0 1
Congenital myasthenic syndrome 12 1 0 0 0 0 1
Congenital nonbullous ichthyosiform erythroderma 0 1 0 0 0 1
Congenitally corrected transposition of the great arteries 0 0 1 0 0 1
Dandy-Walker syndrome; Clubfoot; Micrognathia; Pleural effusion; Hydrocephalus; Flexed deformity 0 1 0 0 0 1
Dandy-Walker syndrome; Global developmental delay; Hydrocephalus; Cerebellar vermis hypoplasia 0 1 0 0 0 1
Death in infancy 0 0 1 0 0 1
Desbuquois dysplasia 1 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 21 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 44 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 68 1 0 0 0 0 1
Developmental cataract; Global developmental delay; Microcephaly; Severe dystonia 0 1 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 0 0 0 1
Dizygotic twins 0 0 1 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 1 0 0 0 0 1
Enterokinase deficiency 1 0 0 0 0 1
Epilepsy; Global developmental delay; Failure to thrive; Microcephaly 0 1 0 0 0 1
Epilepsy; Intellectual disability, profound 0 1 0 0 0 1
Exaggerated startle response; Severe microlissencephaly 0 1 0 0 0 1
Facial hypotonia 0 0 1 0 0 1
Failure to thrive; Spastic paraplegia 0 1 0 0 0 1
Familial infantile myasthenia 0 0 1 0 0 1
Familial retinal arterial macroaneurysm 1 0 0 0 0 1
Female infertility due to zona pellucida defect 0 1 0 0 0 1
Fetal akinesia deformation sequence 1; Neonatal death; Cerebral ischemia 0 1 0 0 0 1
Fibrochondrogenesis 2 1 0 0 0 0 1
Fowler syndrome 0 1 0 0 0 1
Fraser syndrome 2 1 0 0 0 0 1
GRACILE syndrome 1 0 0 0 0 1
Generalized hypotonia; Profound global developmental delay 0 0 1 0 0 1
Global developmental delay; Abnormal facial shape 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Abnormal glycosylation 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Happy demeanor 1 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Microcephaly; Truncal obesity 0 1 0 0 0 1
Global developmental delay; Brain atrophy; Intractable seizure 0 1 0 0 0 1
Global developmental delay; Cerebellar atrophy; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Cerebral calcification; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Global developmental delay; Failure to thrive; Spastic tetraplegia; Optic atrophy; Axial hypotonia; Death in infancy; High CSF lactic acid; Neurodegeration 0 1 0 0 0 1
Global developmental delay; Hydrocephalus; Cerebellar atrophy; Bilateral squint 0 1 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; CNS hypomyelination; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Intellectual disability; Attention deficit hyperactivity disorder 0 1 0 0 0 1
Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis 0 1 0 0 0 1
Global developmental delay; Microcephaly; Intellectual disability; Iron deposition in globus pallidus; Hypotonia 0 1 0 0 0 1
Global developmental delay; Neurodegeneration 0 1 0 0 0 1
Global developmental delay; Optic atrophy; Intractable seizure 0 1 0 0 0 1
Global developmental delay; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Seizure; Abnormal corpus callosum morphology; Microphthalmia, isolated, with coloboma 0 1 0 0 0 1
Global developmental delay; Seizure; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Seizure; Brain malformation 0 1 0 0 0 1
Global developmental delay; Seizure; Chronic kidney disease 0 1 0 0 0 1
Global developmental delay; Seizure; Hearing impairment; Hypermetropia; Strabismus; Hypotonia 0 1 0 0 0 1
Global developmental delay; Seizure; Hydrocephalus 0 1 0 0 0 1
Global developmental delay; Seizure; Microcephaly; Brain atrophy 0 1 0 0 0 1
Global developmental delay; Seizure; Primary microcephaly 0 1 0 0 0 1
Global developmental delay; Seizure; Ventral septal defect; Delayed reflexes; Dysmorphism; Hypotonia 0 1 0 0 0 1
Gorlin syndrome 0 1 0 0 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 1 0 0 0 0 1
Hemiparesis; Focal epilepsy; Hydrocephalus 0 1 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 1
Holoprosencephaly sequence; Global developmental delay; Seizure; Proptosis; Microcephaly; Diabetes insipidus; Lumbosacral myelomeningocele 0 1 0 0 0 1
Hydatidiform mole, recurrent, 1 1 0 0 0 0 1
Hydrocephalus 1 0 0 0 0 1
Hydrocephalus, congenital, 3, with brain anomalies 1 0 0 0 0 1
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 0 1 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia; Leukodystrophy 0 1 0 0 0 1
Hypohidrosis; Intellectual disability 0 1 0 0 0 1
Inborn mitochondrial myopathy 0 1 0 0 0 1
Infantile hypophosphatasia 1 0 0 0 0 1
Infertility disorder; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 0 1 0 0 0 1
Inherited oocyte maturation defect 0 1 0 0 0 1
Intellectual disability-strabismus syndrome 0 1 0 0 0 1
Intellectual disability; Attention deficit hyperactivity disorder; Hypotonia 0 1 0 0 0 1
Intellectual disability; Primary microcephaly 0 1 0 0 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 0 0 1
Johanson-Blizzard syndrome 1 0 0 0 0 1
Joubert syndrome 16 1 0 0 0 0 1
Joubert syndrome 22 0 1 0 0 0 1
Joubert syndrome 26 0 1 0 0 0 1
Joubert syndrome 6 0 1 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 0 0 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 1 0 0 0 1
Lethal congenital contracture syndrome 7 1 0 0 0 0 1
Lissencephaly; Global developmental delay; Seizure; Primary microcephaly 0 1 0 0 0 1
Lobar holoprosencephaly 1 0 0 0 0 1
Macrocephaly; Dolichocephaly; Intellectual disability; Mild obesity 0 1 0 0 0 1
Meckel syndrome, type 11 1 0 0 0 0 1
Meckel syndrome, type 8 0 1 0 0 0 1
Megacystis, microcolon, hypoperistalsis syndrome 1 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 1
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 1 0 0 0 0 1
Nemaline myopathy 0 1 0 0 0 1
Neonatal death; Abnormal facial shape; Cortical dysplasia; Severe brain malformation 0 1 0 0 0 1
Neonatal death; Hydranencephaly; Severe brain malformation; Severe cerebellar hypoplasia 0 1 0 0 0 1
Neonatal death; Severe hydrocephalus 0 1 0 0 0 1
Neonatal death; Severe primary microcephaly 0 1 0 0 0 1
Nephronophthisis 12 1 0 0 0 0 1
Nephronophthisis 13 0 1 0 0 0 1
Nephronophthisis 19 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 19 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 2B 1 0 0 0 0 1
Neurodegeneration; Brain iron accummulation 0 1 0 0 0 1
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 7 1 0 0 0 0 1
Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1 0 1 0 0 0 1
Pectus excavatum; Scoliosis; Coarse facial features; Cutis laxa; Gastroesophageal reflux; Chronic lung disease; Hyperactive airways; Bilateral undescended testicles; Hypotonia 0 1 0 0 0 1
Peroxisome biogenesis disorder 3A (Zellweger) 1 0 0 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 1
Pontocerebellar hypoplasia type 1A 0 1 0 0 0 1
Preimplantation embryonic lethality 1 0 1 0 0 0 1
Preimplantation lethality 0 1 0 0 0 1
Primary ciliary dyskinesia 29 0 1 0 0 0 1
Primary ciliary dyskinesia 7 1 0 0 0 0 1
Progressive myoclonic epilepsy type 3 1 0 0 0 0 1
Ptosis; Absence of the sacrum; History of neonatal hypotonia 0 1 0 0 0 1
Pulmonic stenosis; Intellectual disability; Noonan-like facies 0 1 0 0 0 1
Pyridoxal phosphate-responsive seizures 1 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
Pyruvate dehydrogenase E2 deficiency 1 0 0 0 0 1
Regression of motor development with severe dystonia and corresponding basal ganglia lesions 0 1 0 0 0 1
Renal agenesis 0 0 1 0 0 1
Respiratory failure 0 1 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 1 0 0 0 0 1
Seckel syndrome 2 1 0 0 0 0 1
Seizure; Microcephaly; Intellectual disability 0 1 0 0 0 1
Senior-Loken syndrome 8 1 0 0 0 0 1
Severe cystic degeneration of the brain; Infantile epilepsy 0 1 0 0 0 1
Severe short-limb dwarfism 1 0 0 0 0 1
Spastic paraplegia 0 1 0 0 0 1
Spasticity-ataxia-gait anomalies syndrome 1 0 0 0 0 1
Specific granule deficiency 2 1 0 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 0 0 1
Spondylocostal dysostosis 3, autosomal recessive 0 0 1 0 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 1 0 0 0 0 1
Ulnar-mammary syndrome 1 0 0 0 0 1
Vici syndrome 1 0 0 0 0 1
Waddling gait; Marked Hypotonia 0 1 0 0 0 1
X-linked congenital hemolytic anemia 1 0 0 0 0 1
Xeroderma pigmentosum, group G 0 1 0 0 0 1

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