ClinVar Miner

Variants from Genomic Research Center,Shahid Beheshti University of Medical Sciences

Location: Iran, Islamic Republic of — 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 not provided total
348 285 857 33 11 46 1572

Gene and significance breakdown #

Total genes and gene combinations: 965
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ITGB2 12 1 0 0 1 11 25
BRCA1 7 0 4 0 1 12 22
BRCA2 5 1 6 1 2 4 18
TTN 2 5 11 0 0 0 18
SYNE1 3 2 11 0 0 0 16
RYR1 2 0 11 1 0 0 14
EDAR, RANBP2 1 1 7 0 0 2 11
CC2D2A 5 2 3 0 0 0 10
LAMA2 3 0 7 0 0 0 10
COL6A3 2 2 4 0 0 0 8
LMNA 2 3 2 0 1 0 8
MECP2 2 2 2 2 0 0 8
PLA2G6 3 4 1 0 0 0 8
POLG 3 1 3 0 1 0 8
ADGRV1 0 0 6 0 0 0 6
ASPM 1 1 2 2 0 0 6
CFTR 5 0 1 0 0 0 6
NAGLU 4 1 1 0 0 0 6
SGSH 5 1 0 0 0 0 6
SYNE2 0 1 5 0 0 0 6
CACNA1G 0 0 4 1 0 0 5
CDH23 1 3 1 0 0 0 5
COL6A2 0 1 3 1 0 0 5
GLB1 3 2 0 0 0 0 5
GLDC 2 1 2 0 0 0 5
MMACHC 3 0 2 0 0 0 5
MYH14 0 0 4 0 0 1 5
MYH7 1 3 1 0 0 0 5
NUCB2 0 1 0 0 0 4 5
ABCC8 1 2 1 0 0 0 4
ARL13B 0 0 4 0 0 0 4
CCDC88C 0 0 4 0 0 0 4
CLN6 2 2 0 0 0 0 4
COL12A1 0 2 2 0 0 0 4
COL6A1 0 1 3 0 0 0 4
DMD 1 2 1 0 0 0 4
ERCC2 1 1 2 0 0 0 4
FAT4 0 0 4 0 0 0 4
FLNC 0 0 4 0 0 0 4
GALNS 3 1 0 0 0 0 4
GCDH 1 2 1 0 0 0 4
HEXA 1 2 1 0 0 0 4
IFIH1 1 1 2 0 0 0 4
MED12 0 0 4 0 0 0 4
MMUT 3 0 1 0 0 0 4
MYO18B 0 1 2 1 0 0 4
NALCN 1 1 2 0 0 0 4
PHGDH 2 1 1 0 0 0 4
PIEZO2 0 1 3 0 0 0 4
PLOD1 1 1 2 0 0 0 4
SAMD9 2 1 1 0 0 0 4
SCN1A, SCN9A 0 0 3 1 0 0 4
ABCA4 2 1 0 0 0 0 3
ABCC6 0 0 3 0 0 0 3
ADCY5 0 0 3 0 0 0 3
AGL 1 0 1 1 0 0 3
ALG13 0 0 3 0 0 0 3
ALMS1 0 0 2 0 1 0 3
ANO5 1 0 2 0 0 0 3
AR 0 0 3 0 0 0 3
ARSA 1 0 2 0 0 0 3
ASNS, CZ1P-ASNS 0 2 1 0 0 0 3
ASXL1 0 0 3 0 0 0 3
ATP7A 1 1 1 0 0 0 3
ATP7B 1 1 1 0 0 0 3
BCKDHA 2 1 0 0 0 0 3
BCOR 0 2 1 0 0 0 3
CC2D1A 0 0 3 0 0 0 3
CDKL5 2 0 0 1 0 0 3
CEP152 0 2 1 0 0 0 3
CEP290 2 0 1 0 0 0 3
CHKB, CHKB-CPT1B 1 0 1 1 0 0 3
CLCN1 0 0 3 0 0 0 3
COL7A1 2 1 0 0 0 0 3
COL9A3 1 1 1 0 0 0 3
CREBBP 1 0 2 0 0 0 3
DHTKD1 1 0 2 0 0 0 3
DM1, DMPK, LOC107075317 0 0 3 0 0 0 3
DONSON 1 0 2 0 0 0 3
DST 0 1 2 0 0 0 3
DYSF 0 2 1 0 0 0 3
ERCC6 2 0 1 0 0 0 3
FIG4 0 0 3 0 0 0 3
FLNA 0 0 3 0 0 0 3
GBA, LOC106627981 2 1 0 0 0 0 3
GLYCTK 0 1 2 0 0 0 3
GUCY2D 1 0 2 0 0 0 3
HSPG2 0 0 3 0 0 0 3
JAG1 2 0 1 0 0 0 3
KANSL1 0 0 3 0 0 0 3
KIF1A 0 2 1 0 0 0 3
LAMA1 0 2 1 0 0 0 3
LAMB1 0 2 1 0 0 0 3
LIX1L, RBM8A 1 1 0 0 1 0 3
LOC109611589, RUNX2 1 0 3 0 0 0 3
LRP5 0 3 0 0 0 0 3
MCCC1 0 0 3 0 0 0 3
MFN2 0 3 0 0 0 0 3
MLC1 1 0 2 0 0 0 3
MTHFR 1 2 0 0 0 0 3
NSD1 0 1 1 1 0 0 3
OTOF 0 0 3 0 0 0 3
PAH 1 2 0 0 0 0 3
PCDH15 1 1 1 0 0 0 3
PEX12 2 0 1 0 0 0 3
PIGN 0 3 0 0 0 0 3
PLEC 0 0 3 0 0 0 3
PPT1 1 0 2 0 0 0 3
SACS 3 0 0 0 0 0 3
SLC22A5 2 1 0 0 0 0 3
SPR 2 0 1 0 0 0 3
TBCD 0 0 3 0 0 0 3
TCIRG1 1 0 2 0 0 0 3
TNXB 0 0 3 0 0 0 3
TRIOBP 0 0 2 0 0 1 3
TSC2 0 0 3 0 0 0 3
VPS13B 2 1 0 0 0 0 3
WFS1 1 1 1 0 0 0 3
A2ML1 0 0 2 0 0 0 2
ABCA1 0 0 2 0 0 0 2
ABCA3 0 0 2 0 0 0 2
ABCB11 0 0 2 0 0 0 2
ABCB4 1 0 1 0 0 0 2
ACADS 0 1 0 0 1 0 2
AHDC1 0 0 2 0 0 0 2
AHNAK 0 0 2 0 0 0 2
ALDH3A2 1 0 1 0 0 0 2
ALDH5A1 2 0 0 0 0 0 2
ALG12 0 1 1 0 0 0 2
ALOX12B 0 2 0 0 0 0 2
ANKRD11 0 0 1 1 0 0 2
AP4M1 2 0 0 0 0 0 2
ARID1B 0 0 2 0 0 0 2
ATAD3A 1 0 1 0 0 0 2
ATM 2 0 0 0 0 0 2
ATP6V0A4 0 0 2 0 0 0 2
ATP8A2 0 1 1 0 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 0 1 0 0 0 2
BBS7 2 0 0 0 0 0 2
BICD2 0 0 2 0 0 0 2
C19orf12 0 1 1 0 0 0 2
CACNA1A 0 1 1 0 0 0 2
CACNA1D 0 0 2 0 0 0 2
CACNA1S 0 0 2 0 0 0 2
CANT1 0 2 0 0 0 0 2
CASP10 0 0 2 0 0 0 2
CD59 0 1 1 0 0 0 2
CHD7 0 0 2 0 0 0 2
CHRNB2 0 1 1 0 0 0 2
CHRND 0 0 2 0 0 0 2
CHST3 1 1 0 0 0 0 2
CLIC5 0 0 1 1 0 0 2
CLN3 0 1 1 0 0 0 2
CLN5, FBXL3 1 0 1 0 0 0 2
COG6 0 0 2 0 0 0 2
COL11A2 0 1 1 0 0 0 2
COL2A1 0 1 1 0 0 0 2
COLQ 1 0 1 0 0 0 2
COQ4 0 1 1 0 0 0 2
CRPPA 0 2 0 0 0 0 2
CYP4F2 0 0 2 0 0 0 2
DBT 2 0 0 0 0 0 2
DDHD2 1 0 1 0 0 0 2
DDR2 0 0 2 0 0 0 2
DDX3X 0 1 1 0 0 0 2
DGCR6, PRODH 1 0 1 0 0 0 2
DHCR7 1 1 0 0 0 0 2
DIAPH1 0 1 1 0 0 0 2
DPP6 0 0 2 0 0 0 2
EP300 0 0 2 0 0 0 2
ERBB3 0 0 2 0 0 0 2
EXOSC3 1 1 0 0 0 0 2
FAH 2 0 0 0 0 0 2
FBN1 0 0 2 0 0 0 2
FBN2 0 0 2 0 0 0 2
FBP1 1 0 1 0 0 0 2
FGD4 0 0 2 0 0 0 2
FLG 1 0 1 0 0 0 2
FLNB 0 0 2 0 0 0 2
FOXRED1 0 1 1 0 0 0 2
GAA 1 1 0 0 0 0 2
GBA2 0 0 2 0 0 0 2
GJB2 2 0 0 0 0 0 2
GNPTAB 2 0 0 0 0 0 2
GPSM2 0 1 1 0 0 0 2
HADHB 0 1 1 0 0 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 0 0 2
HECW2 0 0 2 0 0 0 2
HERC2 1 0 1 0 0 0 2
HGSNAT 1 0 1 0 0 0 2
IBA57 1 0 1 0 0 0 2
IDS, LOC106050102 2 0 0 0 0 0 2
IDUA 1 1 0 0 0 0 2
ITGA7 0 2 0 0 0 0 2
JAK3 0 0 2 0 0 0 2
KAT6A 0 0 1 1 0 0 2
KCNJ10 0 0 2 0 0 0 2
KIF7 1 0 1 0 0 0 2
KMT2D 1 0 1 0 0 0 2
LAMA3 0 0 2 0 0 0 2
LDB3, LOC110121486 0 0 2 0 0 0 2
LOXHD1 1 0 1 0 0 0 2
LPL 1 1 0 0 0 0 2
LRIG2 0 0 2 0 0 0 2
LRP2 0 0 2 0 0 0 2
LTBP3 0 0 2 0 0 0 2
MCM6 0 0 2 0 0 0 2
MERTK 0 1 1 0 0 0 2
MIPEP 0 0 2 0 0 0 2
MMAA 0 1 1 0 0 0 2
MOCS1 0 1 1 0 0 0 2
MOCS2 1 0 1 0 0 0 2
MTRR 1 0 1 0 0 0 2
MUTYH 1 1 0 0 0 0 2
MYH3 0 1 1 0 0 0 2
MYH8, MYHAS 0 0 2 0 0 0 2
MYO15A 1 1 1 0 0 0 2
MYO7A 0 2 0 0 0 0 2
NARS2 2 0 0 0 0 0 2
NDUFS8 0 0 2 0 0 0 2
NEB 0 0 2 0 0 0 2
NEDD4L 0 0 2 0 0 0 2
NEK1 0 0 2 0 0 0 2
NF1 2 0 0 0 0 0 2
NPC1 2 0 0 0 0 0 2
OPHN1 0 0 2 0 0 0 2
OPLAH 0 0 2 0 0 0 2
P3H1 1 0 1 0 0 0 2
PANK2 1 0 1 0 0 0 2
PC 0 0 2 0 0 0 2
PCCB 0 0 2 0 0 0 2
PHKA2 0 0 2 0 0 0 2
PHKB 0 0 2 0 0 0 2
PIGT 0 0 2 0 0 0 2
PKLR 1 1 0 0 0 0 2
PLCB1 0 0 2 0 0 0 2
PMS1 0 0 2 0 0 0 2
POC1A 1 0 1 0 0 0 2
POLA1 0 0 2 0 0 0 2
POLR1C 0 1 1 0 0 0 2
PREPL 0 0 1 1 0 0 2
PRX 1 0 1 0 0 0 2
PTEN 1 0 1 0 0 0 2
PTH1R 0 0 2 0 0 0 2
PTPN11 1 1 0 0 0 0 2
PYGL 1 0 1 0 0 0 2
PYGM 0 0 2 0 0 0 2
RNASEH2A 0 0 2 0 0 0 2
RPGRIP1 2 0 0 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 0 2
SBF1 1 0 1 0 0 0 2
SBF2 0 0 2 0 0 0 2
SCN8A 0 2 0 0 0 0 2
SCNN1A 0 0 2 0 0 0 2
SDCCAG8 1 0 1 0 0 0 2
SDHA 0 0 2 0 0 0 2
SETBP1 0 0 2 0 0 0 2
SETX 0 1 1 0 0 0 2
SGCG 1 0 1 0 0 0 2
SHROOM4 0 0 2 0 0 0 2
SLC1A4 1 0 1 0 0 0 2
SLC26A4 1 1 1 0 0 0 2
SLC2A2 1 1 0 0 0 0 2
SLC7A7 2 0 0 0 0 0 2
SMAD4 2 0 0 0 0 0 2
SMPD1 1 0 1 0 0 0 2
SNX14 1 0 1 0 0 0 2
SRD5A2 1 0 1 0 0 0 2
STIM1 0 0 2 0 0 0 2
STXBP5L 0 0 2 0 0 0 2
SUCLA2 2 0 0 0 0 0 2
SURF1 1 0 1 0 0 0 2
SYNJ1 0 0 2 0 0 0 2
TBC1D24 1 0 1 0 0 0 2
TECPR2 1 0 1 0 0 0 2
TMEM67 1 0 1 0 0 0 2
TOP2A 0 0 2 0 0 0 2
TPP1 1 0 1 0 0 0 2
TRAPPC11 0 0 2 0 0 0 2
TRPS1 0 1 1 0 0 0 2
TYR 0 1 0 0 0 1 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 1 0 0 0 2
UNC80 0 0 2 0 0 0 2
USH1C 0 2 0 0 0 0 2
WDR45 1 1 0 0 0 0 2
WDR81 0 0 2 0 0 0 2
WNK1 0 0 2 0 0 0 2
ZNF592 0 0 2 0 0 0 2
​intergenic 0 1 0 0 0 0 1
AAAS 1 0 0 0 0 0 1
AARS1 0 0 1 0 0 0 1
AASS 0 0 1 0 0 0 1
ABCC3 0 0 1 0 0 0 1
ABCD1 0 0 1 0 0 0 1
ABCD4 0 0 1 0 0 0 1
ABCG2 0 0 1 0 0 0 1
ABHD14A-ACY1, ACY1 0 1 0 0 0 0 1
ABHD5 0 0 1 0 0 0 1
ACAD9 0 0 1 0 0 0 1
ACADM 0 1 0 0 0 0 1
ACADSB 0 0 1 0 0 0 1
ACADVL 0 0 1 0 0 0 1
ACAT1 1 0 0 0 0 0 1
ACAT2 0 0 1 0 0 0 1
ACE 0 0 1 0 0 0 1
ACER3 1 0 0 0 0 0 1
ACO2 0 0 1 0 0 0 1
ACO2, POLR3H 0 0 1 0 0 0 1
ACSF3 0 0 1 0 0 0 1
ACVR1 1 0 0 0 0 0 1
ADA 0 0 1 0 0 0 1
ADA2 0 1 0 0 0 0 1
ADAMTSL4 0 0 1 0 0 0 1
ADGRG1 0 0 1 0 0 0 1
ADPRHL2 0 0 1 0 0 0 1
ADSL 0 0 1 0 0 0 1
ADSS1 0 0 1 0 0 0 1
AFF4 0 0 1 0 0 0 1
AFG3L2 0 0 1 0 0 0 1
AGK 0 0 1 0 0 0 1
ALDH18A1 0 1 0 0 0 0 1
ALDH2 0 0 1 0 0 0 1
ALDH6A1, BBOF1 0 1 0 0 0 0 1
ALDOB 0 1 0 0 0 0 1
ALG1 0 1 0 0 0 0 1
ALG3 0 0 1 0 0 0 1
ALG9 1 0 0 0 0 0 1
ALOX15 0 0 1 0 0 0 1
ALOX15B 0 0 1 0 0 0 1
ALS2 0 0 1 0 0 0 1
ALX4 0 0 1 0 0 0 1
ANAPC15, LRTOMT 0 0 1 0 0 0 1
ANK3 0 0 1 0 0 0 1
ANKLE2 0 0 1 0 0 0 1
ANXA1 0 0 1 0 0 0 1
AP4E1 0 1 0 0 0 0 1
APC 0 0 1 0 0 0 1
APOC2, APOC4-APOC2 1 0 0 0 0 0 1
APTX 1 0 0 0 0 0 1
ARAP3 0 0 1 0 0 0 1
ARFGEF1, CSPP1 0 0 0 1 0 0 1
ARFGEF2 0 0 1 0 0 0 1
ARHGDIA 0 0 1 0 0 0 1
ARHGEF10 0 0 1 0 0 0 1
ARMC9 0 0 1 0 0 0 1
ARSE 0 1 0 0 0 0 1
ASAH1 0 1 0 0 0 0 1
ASCC1 0 0 0 1 0 0 1
ASCC3 0 0 1 0 0 0 1
ASH1L 0 0 1 0 0 0 1
ASL 1 0 0 0 0 0 1
ASS1 0 1 0 0 0 0 1
ASTN2, TRIM32 0 1 0 0 0 0 1
ASXL2 0 0 1 0 0 0 1
ASXL3 0 0 1 0 0 0 1
ATIC 0 0 1 0 0 0 1
ATM, C11orf65 0 1 0 0 0 0 1
ATOH7 1 0 0 0 0 0 1
ATP13A2 0 0 1 0 0 0 1
ATP8B1 0 0 1 0 0 0 1
ATR 0 0 1 0 0 0 1
ATRX 0 0 1 0 0 0 1
ATXN2 0 1 0 0 0 0 1
AUTS2 0 1 0 0 0 0 1
B3GALNT2 0 1 0 0 0 0 1
BARD1 0 0 0 1 0 0 1
BBIP1 0 0 1 0 0 0 1
BBS12 0 0 1 0 0 0 1
BBS4 0 0 1 0 0 0 1
BBS9 1 0 0 0 0 0 1
BCL11A 0 1 0 0 0 0 1
BCR 0 0 1 0 0 0 1
BCS1L 0 0 0 1 0 0 1
BIVM-ERCC5, ERCC5 1 0 0 0 0 0 1
BLM 0 0 1 0 0 0 1
BMPER 0 0 1 0 0 0 1
BMPR1B 0 0 1 0 0 0 1
BRAF 0 1 0 0 0 0 1
BRAT1 0 0 1 0 0 0 1
BTD 0 0 1 0 0 0 1
C12orf29, CEP290 0 0 1 0 0 0 1
C17orf107, CHRNE 0 0 1 0 0 0 1
C2CD3 0 0 1 0 0 0 1
CA2, CA3 1 0 0 0 0 0 1
CACNA1B 0 0 1 0 0 0 1
CACNA1C 0 0 1 0 0 0 1
CACNA1F 0 0 1 0 0 0 1
CAMTA1 0 0 1 0 0 0 1
CASK 0 0 1 0 0 0 1
CASQ1 0 1 0 0 0 0 1
CBS 1 0 0 0 0 0 1
CCDC103 0 0 1 0 0 0 1
CCDC78 0 0 1 0 0 0 1
CCN6 1 0 0 0 0 0 1
CCT5 0 0 1 0 0 0 1
CD36 0 1 0 0 0 0 1
CD79A 0 0 1 0 0 0 1
CD99 0 0 1 0 0 0 1
CDH1 0 0 1 0 0 0 1
CDH3 0 1 0 0 0 0 1
CDSN, PSORS1C1 0 0 1 0 0 0 1
CDT1 0 0 1 0 0 0 1
CEL 0 0 1 0 0 0 1
CENPJ, RNF17 1 0 0 0 0 0 1
CEP164 0 1 0 0 0 0 1
CEP41 0 0 0 1 0 0 1
CERS1, GDF1 1 0 0 0 0 0 1
CERT1 0 0 1 0 0 0 1
CERT1, POLK 1 0 0 0 0 0 1
CFHR3 0 1 0 0 0 0 1
CFHR5 1 0 0 0 0 0 1
CHAT 0 0 1 0 0 0 1
CHD2 0 0 1 0 0 0 1
CHEK2 0 1 0 0 0 0 1
CHMP1A 1 0 0 0 0 0 1
CHMP2B 0 0 1 0 0 0 1
CHRD 0 0 1 0 0 0 1
CHRNA1 0 0 1 0 0 0 1
CHRNA4 0 0 1 0 0 0 1
CHRNB1 0 0 1 0 0 0 1
CHSY1 0 0 1 0 0 0 1
CLCF1, LOC100130987 0 0 1 0 0 0 1
CLCN2 0 0 1 0 0 0 1
CLCNKA 0 0 1 0 0 0 1
CLCNKA, LOC106501712 0 0 1 0 0 0 1
CLMP 1 0 0 0 0 0 1
CLN8 0 0 1 0 0 0 1
CMYA5 0 0 1 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CNKSR2 1 0 0 0 0 0 1
CNOT1 0 0 0 0 1 0 1
CNTN2 0 0 1 0 0 0 1
COA8 0 0 1 0 0 0 1
COCH, LOC100506071 0 1 0 0 0 0 1
COG5 1 0 0 0 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL13A1 0 0 1 0 0 0 1
COL18A1 0 0 1 0 0 0 1
COL18A1, SLC19A1 0 0 1 0 0 0 1
COL1A1 1 0 0 0 0 0 1
COL4A1 0 1 0 0 0 0 1
COL4A2 0 0 1 0 0 0 1
COQ6, ENTPD5 0 0 1 0 0 0 1
COQ7 0 0 1 0 0 0 1
COQ7, LOC102723385 0 0 1 0 0 0 1
COQ8A 0 1 0 0 0 0 1
COX15 0 1 0 0 0 0 1
CP, HPS3 0 1 0 0 0 0 1
CPLANE1 0 1 0 0 0 0 1
CRB1 0 1 0 0 0 0 1
CSRNP1 0 0 0 0 0 1 1
CTF1 0 0 1 0 0 0 1
CTSC 0 1 0 0 0 0 1
CTSK 0 1 0 0 0 0 1
CTTN 0 0 1 0 0 0 1
CUBN 1 0 0 0 0 0 1
CUL7 0 0 1 0 0 0 1
CXXC1 0 0 1 0 0 0 1
CYP11B1, LOC106799833 1 0 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 1
CYP27A1 1 0 0 0 0 0 1
CYP27B1 1 0 0 0 0 0 1
CYP2U1, LOC101929595 0 0 1 0 0 0 1
CYP7B1 0 0 1 0 0 0 1
DARS1 1 0 0 0 0 0 1
DARS2 1 0 0 0 0 0 1
DBNL, PGAM2 0 1 0 0 0 0 1
DCDC2 0 1 0 0 0 0 1
DCHS1 0 0 1 0 0 0 1
DCLRE1C 0 1 0 0 0 0 1
DCX 1 0 0 0 0 0 1
DDOST 0 1 0 0 0 0 1
DES 0 1 0 0 0 0 1
DGCR6 0 0 1 0 0 0 1
DIAPH3 0 0 1 0 0 0 1
DIP2B 0 0 1 0 0 0 1
DIPK1A, RPL5 0 1 0 0 0 0 1
DIS3 0 0 1 0 0 0 1
DMGDH 0 0 1 0 0 0 1
DMPK 1 0 0 0 0 0 1
DNA2 0 1 0 0 0 0 1
DNAJC19 0 0 1 0 0 0 1
DNAJC21 0 0 1 0 0 0 1
DNM1L 0 0 1 0 0 0 1
DNM1L, YARS2 0 0 1 0 0 0 1
DNMT1 0 0 1 0 0 0 1
DOCK3 0 0 0 0 0 1 1
DOCK6, LOC105372273 1 0 0 0 0 0 1
DOK7 0 0 1 0 0 0 1
DPAGT1 0 0 1 0 0 0 1
DSPP 0 0 1 0 0 0 1
EARS2 0 0 1 0 0 0 1
ECM1 1 0 0 0 0 0 1
EDA 1 0 0 0 0 0 1
EFNB1 0 0 1 0 0 0 1
EGR2 0 0 1 0 0 0 1
EHHADH 0 0 1 0 0 0 1
EIF2B1 0 0 1 0 0 0 1
EIF2B2 1 0 0 0 0 0 1
ELP1 0 0 1 0 0 0 1
EMC1 1 0 0 0 0 0 1
ENPP2 0 0 1 0 0 0 1
EPG5 0 0 1 0 0 0 1
EPHA2 0 0 1 0 0 0 1
ERCC6, ERCC6-PGBD3 1 0 0 0 0 0 1
ERMAP 0 0 0 1 0 0 1
ESCO2 0 1 0 0 0 0 1
ETFB 0 0 1 0 0 0 1
ETFDH 0 1 0 0 0 0 1
EVC2 0 0 1 0 0 0 1
EXOSC8 0 0 1 0 0 0 1
EXT2 0 0 1 0 0 0 1
F2RL2, IQGAP2 0 0 1 0 0 0 1
F7 0 1 0 0 0 0 1
FAAH2 1 0 0 0 0 0 1
FAM20A, PRKAR1A 0 1 0 0 0 0 1
FANCA 0 1 0 0 0 0 1
FANCA, ZNF276 0 1 0 0 0 0 1
FANCC 0 1 0 0 0 0 1
FANCG 0 0 1 0 0 0 1
FARSB 0 0 1 0 0 0 1
FAS 0 0 1 0 0 0 1
FASLG 0 0 0 1 0 0 1
FBLN5 1 0 0 0 0 0 1
FBXL4 1 0 0 0 0 0 1
FBXO38 0 0 1 0 0 0 1
FGFR1 1 0 0 0 0 0 1
FHL1 0 0 1 0 0 0 1
FKBP10 1 0 0 0 0 0 1
FKRP 0 0 1 0 0 0 1
FKTN 1 0 0 0 0 0 1
FMNL2 0 0 1 0 0 0 1
FOXP1 0 0 1 0 0 0 1
FREM1 0 0 1 0 0 0 1
FREM2 0 0 1 0 0 0 1
FRMD1 0 0 1 0 0 0 1
FRZB 0 0 1 0 0 0 1
FTL 0 0 1 0 0 0 1
FTO 0 1 0 0 0 0 1
FUCA1 0 0 1 0 0 0 1
G6PC 1 0 0 0 0 0 1
G6PC2 0 0 1 0 0 0 1
GABRB3 0 0 1 0 0 0 1
GAD1 0 1 0 0 0 0 1
GALC 1 0 0 0 0 0 1
GALT 0 1 0 0 0 0 1
GAN 0 0 1 0 0 0 1
GAREM2, HADHA 0 1 0 0 0 0 1
GATA4 1 0 0 0 0 0 1
GATAD1, PEX1 0 0 1 0 0 0 1
GATM 0 0 1 0 0 0 1
GBA 0 1 0 0 0 0 1
GCH1 0 1 0 0 0 0 1
GDAP1 1 0 0 0 0 0 1
GFAP 0 0 1 0 0 0 1
GFM1 0 1 0 0 0 0 1
GJB1 0 1 1 0 0 0 1
GJB4 0 1 0 0 0 0 1
GJC2 0 0 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 0 1
GLI3 0 1 0 0 0 0 1
GLRA1 0 1 0 0 0 0 1
GLUD1 0 0 1 0 0 0 1
GLUL 0 0 1 0 0 0 1
GNAI3 0 0 1 0 0 0 1
GNAO1 0 1 0 0 0 0 1
GNAT1 0 0 1 0 0 0 1
GNAT2 0 1 0 0 0 0 1
GNPAT 0 0 1 0 0 0 1
GNPTG 1 0 0 0 0 0 1
GNRHR 1 0 0 0 0 0 1
GOLGA4 0 0 0 0 0 1 1
GORAB 0 1 0 0 0 0 1
GPC3 1 0 0 0 0 0 1
GRIN1 0 1 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 1
GRN 0 1 0 0 0 0 1
GTF2H5 0 1 0 0 0 0 1
GYG1 0 0 1 0 0 0 1
GYS1 0 1 0 0 0 0 1
H2BM 0 0 0 1 0 0 1
HACE1 1 0 0 0 0 0 1
HBA2, LOC106804612 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HBS1L 0 0 1 0 0 0 1
HCCS 0 1 0 0 0 0 1
HCN1 0 0 1 0 0 0 1
HEMK1 0 0 1 0 0 0 1
HEXB 0 0 1 0 0 0 1
HGD 1 0 0 0 0 0 1
HIBCH 0 1 0 0 0 0 1
HK1 0 0 1 0 0 0 1
HMBS 0 1 0 0 0 0 1
HMGCL 1 0 0 0 0 0 1
HNRNPDL 0 1 0 0 0 0 1
HPD 1 0 0 0 0 0 1
HPRT1 1 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 1
HSD17B10 0 0 1 0 0 0 1
HSD17B4 0 0 1 0 0 0 1
HSF4 0 0 1 0 0 0 1
HSPB1 0 1 0 0 0 0 1
HSPB3 0 0 1 0 0 0 1
HSPD1 0 0 1 0 0 0 1
HUWE1 0 0 1 0 0 0 1
IARS2 0 0 1 0 0 0 1
IDS 1 0 0 0 0 0 1
IFT57 0 0 1 0 0 0 1
IGF1R 0 0 1 0 0 0 1
IKBKB 0 0 0 1 0 0 1
IL11RA 0 0 1 0 0 0 1
INPP5E 0 0 1 0 0 0 1
IQSEC2 0 0 1 0 0 0 1
IRF2 0 0 1 0 0 0 1
IRF4 0 0 1 0 0 0 1
ITGA2B 0 0 1 0 0 0 1
ITGA8 1 0 0 0 0 0 1
ITGB5 0 0 1 0 0 0 1
ITPR1 0 1 0 0 0 0 1
ITSN2 0 1 0 0 0 0 1
IVD 0 1 0 0 0 0 1
JPH3 0 0 1 0 0 0 1
KBTBD13 0 1 0 0 0 0 1
KCNC3 1 0 0 0 0 0 1
KCND3 0 1 0 0 0 0 1
KCNH1 0 0 1 0 0 0 1
KCNJ11 0 1 0 0 0 0 1
KCNK9 0 0 1 0 0 0 1
KCNQ3 0 0 0 1 0 0 1
KCNT1 0 0 1 0 0 0 1
KCTD3 0 0 1 0 0 0 1
KCTD7 0 0 1 0 0 0 1
KDM5C 1 0 0 0 0 0 1
KIAA0586 1 0 0 0 0 0 1
KIAA1109 0 0 1 0 0 0 1
KIDINS220 0 0 1 0 0 0 1
KIF5A 0 0 1 0 0 0 1
KIFBP 1 0 0 0 0 0 1
KLHL3 0 0 1 0 0 0 1
KLHL40 0 0 1 0 0 0 1
KMT2A 1 0 0 0 0 0 1
KMT2B 0 0 1 0 0 0 1
KRT14 0 0 1 0 0 0 1
KRT16 0 0 1 0 0 0 1
L1CAM 1 0 0 0 0 0 1
LAMB2 0 0 1 0 0 0 1
LAMB3 1 0 0 0 0 0 1
LAMC3 0 0 1 0 0 0 1
LAMP3 0 0 1 0 0 0 1
LARP7, MIR302CHG 0 0 1 0 0 0 1
LBR 0 1 0 0 0 0 1
LHFPL5 0 0 1 0 0 0 1
LIG4 1 0 0 0 0 0 1
LINC00630, RAB40AL 0 0 1 0 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 0 1
LOC100289580, PIEZO1 0 0 1 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 0 1
LOC108663996, TBP 0 0 1 0 0 0 1
LOC108903148, OPTN 0 0 1 0 0 0 1
LOC112449713, PHKB 0 0 1 0 0 0 1
LOR 0 0 1 0 0 0 1
LPCAT1 0 0 0 0 0 1 1
LPIN2 1 0 0 0 0 0 1
LRRC14B 0 0 0 0 0 1 1
LRRK1 1 0 0 0 0 0 1
LZTFL1 0 0 1 0 0 0 1
MAG 0 0 1 0 0 0 1
MAGEL2 0 0 1 0 0 0 1
MAN2B1 0 0 1 0 0 0 1
MANBA 0 0 1 0 0 0 1
MAPT 0 0 1 0 0 0 1
MARVELD2 0 1 0 0 0 0 1
MASTL 0 0 1 0 0 0 1
MATN3 0 0 1 0 0 0 1
MBOAT7 0 0 1 0 0 0 1
MBTPS2 0 0 1 0 0 0 1
MC1R 0 0 1 0 0 0 1
MCM2 0 0 1 0 0 0 1
MEA1, PPP2R5D 0 1 0 0 0 0 1
MED13L 0 0 1 0 0 0 1
MED17 0 1 0 0 0 0 1
MED23 1 0 0 0 0 0 1
MEFV 1 0 0 0 0 0 1
MEGF10 0 0 1 0 0 0 1
MFF 0 0 1 0 0 0 1
MFSD8 0 0 1 0 0 0 1
MGP 0 0 0 1 0 0 1
MHRT, MYH7 1 0 0 0 0 0 1
MID1 0 0 1 0 0 0 1
MID2 0 0 1 0 0 0 1
MILR1, POLG2 0 1 0 0 0 0 1
MITF 0 0 1 0 0 0 1
MKS1 1 0 0 0 0 0 1
MLH1 0 1 0 0 0 0 1
MLYCD 0 0 1 0 0 0 1
MMAB 1 0 0 0 0 0 1
MMADHC 0 0 1 0 0 0 1
MMP13 0 0 1 0 0 0 1
MOK 0 0 1 0 0 0 1
MPDZ 1 0 0 0 0 0 1
MPLKIP 0 0 1 0 0 0 1
MROH7-TTC4, TTC4 0 0 1 0 0 0 1
MRPS22 0 0 1 0 0 0 1
MST1 0 0 0 0 0 1 1
MT-CO3 1 0 0 0 0 0 1
MT-ND4 0 1 0 0 0 0 1
MT-ND5 0 1 0 0 0 0 1
MTM1 0 0 1 0 0 0 1
MTOR 0 0 1 0 0 0 1
MYH9 0 0 1 0 0 0 1
MYO3A 0 0 1 0 0 0 1
NAGA 1 0 0 0 0 0 1
NAXE 0 0 1 0 0 0 1
NBAS 0 1 0 0 0 0 1
NCOR2 0 0 1 0 0 0 1
NDE1 0 0 1 0 0 0 1
NDN 0 0 1 0 0 0 1
NDP 0 1 0 0 0 0 1
NDUFAF1 0 0 1 0 0 0 1
NDUFAF6 0 1 0 0 0 0 1
NDUFS2 1 0 0 0 0 0 1
NDUFS3 0 1 0 0 0 0 1
NDUFS4 0 0 1 0 0 0 1
NDUFV1 0 0 1 0 0 0 1
NEB, RIF1 1 0 0 0 0 0 1
NIPBL 0 0 0 1 0 0 1
NKX6-2 1 0 0 0 0 0 1
NLRP6 0 0 1 0 0 0 1
NOD2 0 0 1 0 0 0 1
NOTCH2 0 0 1 0 0 0 1
NOTCH3 1 0 0 0 0 0 1
NPC2 0 0 1 0 0 0 1
NPHS2 0 0 1 0 0 0 1
NPR2, SPAG8 0 0 1 0 0 0 1
NPRL2 0 0 1 0 0 0 1
NR0B1 1 0 0 0 0 0 1
NR1H2 0 0 1 0 0 0 1
NRL, PCK2 1 0 0 0 0 0 1
NRXN3 0 1 0 0 0 0 1
NUBPL 0 0 0 1 0 0 1
OBSCN 0 0 1 0 0 0 1
OCLN 1 0 0 0 0 0 1
OCRL 0 0 1 0 0 0 1
OPA3 0 1 0 0 0 0 1
ORC6 1 0 0 0 0 0 1
OTC 0 1 0 0 0 0 1
OTOA 0 0 1 0 0 0 1
P2RX5, P2RX5-TAX1BP3 0 0 1 0 0 0 1
PAK3 0 0 1 0 0 0 1
PAX5 0 0 1 0 0 0 1
PCDH12 0 0 1 0 0 0 1
PCNT 0 0 1 0 0 0 1
PDE11A 1 0 0 0 0 0 1
PDE4D 0 0 1 0 0 0 1
PDHA1 1 0 0 0 0 0 1
PDSS2 0 1 0 0 0 0 1
PDX1 0 1 1 0 0 0 1
PEPD 0 0 1 0 0 0 1
PEX1 1 0 0 0 0 0 1
PEX13 0 0 1 0 0 0 1
PEX26 1 0 0 0 0 0 1
PGAP1 0 0 1 0 0 0 1
PGAP3 1 0 0 0 0 0 1
PHF8 0 0 1 0 0 0 1
PHIP 1 0 0 0 0 0 1
PHKA1 0 0 1 0 0 0 1
PHTF1 0 0 1 0 0 0 1
PHYH 0 0 1 0 0 0 1
PIGO 0 1 0 0 0 0 1
PIGQ 0 0 1 0 0 0 1
PIGW 0 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 0 1
PIK3R1 0 0 1 0 0 0 1
PLA2G7 0 0 1 0 0 0 1
PLD2 0 0 1 0 0 0 1
PLIN1 0 0 1 0 0 0 1
PNCK 0 0 1 0 0 0 1
PNKD 0 0 1 0 0 0 1
PNKP 0 0 1 0 0 0 1
PNP 0 0 1 0 0 0 1
PNPLA1 0 0 1 0 0 0 1
PNPLA2 0 0 0 1 0 0 1
PNPLA8 0 0 1 0 0 0 1
POGZ 0 0 1 0 0 0 1
POLE 0 0 1 0 0 0 1
POLK 0 0 1 0 0 0 1
POLR3A 0 0 1 0 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 0 1
POMT2 0 0 1 0 0 0 1
PPP1R15B 0 0 1 0 0 0 1
PPP1R3B 0 0 1 0 0 0 1
PPP2R2B 0 0 1 0 0 0 1
PRF1 0 1 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKDC 0 0 1 0 0 0 1
PRKN 1 0 0 0 0 0 1
PRODH 0 0 1 0 0 0 1
PROK2 1 0 0 0 0 0 1
PROKR2 0 0 1 0 0 0 1
PROM1 1 0 0 0 0 0 1
PRRX1 0 0 1 0 0 0 1
PRSS12 0 0 1 0 0 0 1
PTCH1 1 0 0 0 0 0 1
PTPRQ 0 0 1 0 0 0 1
PUS1 0 1 0 0 0 0 1
PYCR1 0 0 1 0 0 0 1
PYROXD1 0 0 1 0 0 0 1
QARS1 0 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 0 1
RAB3GAP2 0 1 0 0 0 0 1
RAG2 0 0 1 0 0 0 1
RAI1 0 0 1 0 0 0 1
RAPSN 0 1 0 0 0 0 1
RARB 0 1 0 0 0 0 1
RARS1 1 0 0 0 0 0 1
RARS2 0 0 1 0 0 0 1
RBMX 0 1 0 0 0 0 1
RECQL4 0 0 1 0 0 0 1
RERE 0 0 1 0 0 0 1
RERG 0 0 1 0 0 0 1
RGS9BP 0 1 0 0 0 0 1
RHBDD3 0 0 1 0 0 0 1
RLN3 0 0 1 0 0 0 1
RNF216 1 0 0 0 0 0 1
ROGDI 0 0 1 0 0 0 1
ROM1 0 1 0 0 0 0 1
RP1L1 0 1 0 0 0 0 1
RPE65 0 1 0 0 0 0 1
RPGRIP1L 1 0 0 0 0 0 1
RPL11 1 0 0 0 0 0 1
RPS6KA3 0 1 0 0 0 0 1
RSPH1 1 0 0 0 0 0 1
RTN2 0 0 1 0 0 0 1
RUBCN 0 0 1 0 0 0 1
RUNX2 0 0 1 0 0 0 1
RUNX2, SUPT3H 1 0 0 0 0 0 1
SALL1 0 0 1 0 0 0 1
SCN11A 0 0 1 0 0 0 1
SCN1A 0 0 1 0 0 0 1
SCN2A 0 1 0 0 0 0 1
SCN5A 1 0 0 0 0 0 1
SCN9A 0 1 0 0 0 0 1
SCYL1 0 1 0 0 0 0 1
SDHB 0 0 1 0 0 0 1
SDHD 0 0 1 0 0 0 1
SEMA4D 0 0 1 0 0 0 1
SENP6 0 0 1 0 0 0 1
SETD2 0 0 1 0 0 0 1
SETD6 0 0 1 0 0 0 1
SFTPB 1 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
SHH 0 0 1 0 0 0 1
SIGMAR1 0 1 0 0 0 0 1
SLC12A1 0 1 0 0 0 0 1
SLC12A3 0 0 1 0 0 0 1
SLC12A5 0 0 1 0 0 0 1
SLC12A6 0 0 1 0 0 0 1
SLC16A2 1 0 0 0 0 0 1
SLC17A9 0 0 1 0 0 0 1
SLC19A3 1 0 0 0 0 0 1
SLC25A13 0 0 1 0 0 0 1
SLC25A20 0 0 1 0 0 0 1
SLC25A46 0 0 1 0 0 0 1
SLC26A2 1 0 0 0 0 0 1
SLC2A9 0 0 1 0 0 0 1
SLC35A2 0 0 1 0 0 0 1
SLC35C1 0 1 0 0 0 0 1
SLC38A6 0 0 1 0 0 0 1
SLC4A11 0 1 0 0 0 0 1
SLC52A2 0 0 1 0 0 0 1
SLC5A1 0 0 1 0 0 0 1
SLC5A2 1 0 0 0 0 0 1
SLC6A13 0 0 1 0 0 0 1
SLC6A19 0 0 1 0 0 0 1
SLC6A3 0 0 1 0 0 0 1
SLC7A14 0 0 1 0 0 0 1
SLC7A9 0 0 1 0 0 0 1
SMARCA2 0 0 1 0 0 0 1
SMARCA4 0 0 1 0 0 0 1
SMC1A 0 1 0 0 0 0 1
SMC4, TRIM59-IFT80 0 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
SON 0 0 1 0 0 0 1
SOX17 0 0 0 1 0 0 1
SOX5 0 0 1 0 0 0 1
SPAST 0 0 1 0 0 0 1
SPATA5 0 0 1 0 0 0 1
SPG11 1 0 0 0 0 0 1
SPINK5 0 0 1 0 0 0 1
SPTLC2 0 0 1 0 0 0 1
SQSTM1 0 0 1 0 0 0 1
SRPX2 0 1 0 0 0 0 1
ST3GAL3 0 0 1 0 0 0 1
ST3GAL5 0 1 0 0 0 0 1
STAC3 0 0 1 0 0 0 1
STRC 0 0 0 0 0 1 1
STT3B 0 0 1 0 0 0 1
STXBP1 1 0 0 0 0 0 1
STXBP2 0 0 1 0 0 0 1
STYXL1 0 0 1 0 0 0 1
SUGCT 0 0 1 0 0 0 1
SULT1A1 0 0 1 0 0 0 1
SYNGAP1 0 0 1 0 0 0 1
SZT2 0 0 1 0 0 0 1
TBCE 0 1 0 0 0 0 1
TBCK 0 1 0 0 0 0 1
TBK1 0 0 1 0 0 0 1
TCAP 0 1 0 0 0 0 1
TCF4 0 0 1 0 0 0 1
TCOF1 0 0 1 0 0 0 1
TDRD12 0 0 1 0 0 0 1
TFRC 1 0 0 0 0 0 1
TGFB1 0 0 1 0 0 0 1
TGFBR2 0 1 0 0 0 0 1
TGM1 0 0 1 0 0 0 1
THBS1 0 0 1 0 0 0 1
TMC1 0 1 0 0 0 0 1
TMEM231 0 1 0 0 0 0 1
TMEM237 0 0 1 0 0 0 1
TMEM240 1 0 0 0 0 0 1
TNPO3 0 1 0 0 0 0 1
TP53 0 1 0 0 0 0 1
TPI1 0 0 1 0 0 0 1
TPM2 0 0 1 0 0 0 1
TRAIP 0 0 1 0 0 0 1
TRAPPC9 0 0 1 0 0 0 1
TRIM37 0 0 1 0 0 0 1
TRPM4 0 1 0 0 0 0 1
TRPV1 0 0 1 0 0 0 1
TSC1 0 0 0 0 1 0 1
TSEN2 1 0 0 0 0 0 1
TSPYL2 0 0 1 0 0 0 1
TTBK2 0 0 1 0 0 0 1
TTR 0 0 1 0 0 0 1
TUBGCP6 0 0 1 0 0 0 1
UBA1 0 0 1 0 0 0 1
UBQLN2 1 0 0 0 0 0 1
UMPS 0 1 0 0 0 0 1
UPB1 0 0 1 0 0 0 1
UROD 1 0 0 0 0 0 1
USH2A 0 0 1 0 0 0 1
USP9X 0 0 1 0 0 0 1
VARS2 0 0 1 0 0 0 1
VLDLR 0 0 1 0 0 0 1
VPS13A 0 0 1 0 0 0 1
VPS13D 0 0 1 0 0 0 1
VPS33B 1 0 0 0 0 0 1
VSX2 0 0 1 0 0 0 1
WAC 0 1 0 0 0 0 1
WASHC5 0 0 1 0 0 0 1
WDR35 0 0 1 0 0 0 1
WHRN 0 0 0 0 0 1 1
WNT4 0 0 1 0 0 0 1
XIRP1 0 0 0 0 0 1 1
XPR1 0 0 1 0 0 0 1
XRCC1 0 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 0 1
ZBTB42 0 1 0 0 0 0 1
ZC4H2 1 0 0 0 0 0 1
ZFYVE26 0 0 1 0 0 0 1
ZKSCAN7, ZNF660, ZNF660-ZNF197 0 0 0 0 0 1 1
ZNF408 0 0 1 0 0 0 1
ZNF711 0 0 1 0 0 0 1
ZSWIM6 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1030
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 12 4