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Department of Pathology and Laboratory Medicine (Sinai Health System), PLM-SHS

General information

Department of Pathology and Laboratory Medicine, PLM-SHS
Sinai Health System
600 University Avenue, 6th Floor, Suite 6-500
Toronto
Ontario
Canada - M5G 1X5
https://www.mountsinai.on.ca/
Organization ID: 506152

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 8271

Gene

GeneSubmissionsLast Updated
A2M1Mar 31, 2021
A4GALT1Mar 31, 2021
AARS22Mar 31, 2021
ABCA11Mar 31, 2021
ABCA126Mar 31, 2021
ABCA410Mar 31, 2021
ABCA51Mar 31, 2021
ABCA72Mar 31, 2021
ABCB11Mar 31, 2021
ABCB112Mar 31, 2021
ABCB42Mar 31, 2021
ABCC114Mar 31, 2021
ABCC22Mar 31, 2021
ABCC66Mar 31, 2021
ABCC81Mar 31, 2021
ABCD17Mar 31, 2021
ABHD51Mar 31, 2021
ABRAXAS11Mar 31, 2021
ACACA1Mar 31, 2021
ACADM1Mar 31, 2021
ACADVL1Mar 31, 2021
ACAN4Mar 31, 2021
ACBD61Mar 31, 2021
ACD3Mar 31, 2021
ACE4Mar 31, 2021
ACHE1Mar 31, 2021
ACO22Mar 31, 2021
ACOX11Mar 31, 2021
ACSF31Mar 31, 2021
ACSL61Mar 31, 2021
ACTN21Mar 31, 2021
ACTN31Mar 31, 2021
ACTN41Mar 31, 2021
ADA1Mar 31, 2021
ADAM102Mar 31, 2021
ADAMTS134Mar 31, 2021
ADAMTS22Mar 31, 2021
ADAMTS31Mar 31, 2021
ADAR1Mar 31, 2021
ADCY101Mar 31, 2021
ADGRE21Mar 31, 2021
ADGRL11Mar 31, 2021
ADGRL1-AS11Mar 31, 2021
ADGRV17Mar 31, 2021
ADRB32Mar 31, 2021
AFF41Mar 31, 2021
AFG2A2Mar 31, 2021
AGL1Mar 31, 2021
AGPS1Mar 31, 2021
AGRP1Mar 31, 2021
AGT3Mar 31, 2021
AGTR11Mar 31, 2021
AGXT1Mar 31, 2021
AHDC15Mar 31, 2021
AHI11Mar 31, 2021
AHNAK2Mar 31, 2021
AIP3Mar 31, 2021
AIPL13Mar 31, 2021
AIRE1Mar 31, 2021
AKAP101Mar 31, 2021
AKAP92Mar 31, 2021
ALAS21Mar 31, 2021
ALDH18A11Mar 31, 2021
ALDH1A31Mar 31, 2021
ALDH1A3-AS11Mar 31, 2021
ALDH21Mar 31, 2021
ALDH5A12Mar 31, 2021
ALDOB1Mar 31, 2021
ALG13Mar 31, 2021
ALG10B1Mar 31, 2021
ALG111Mar 31, 2021
ALG131Mar 31, 2021
ALG61Mar 31, 2021
ALG81Mar 31, 2021
ALK10Mar 31, 2021
ALMS13Mar 31, 2021
ALOX12B1Mar 31, 2021
ALPL3Mar 31, 2021
ALS21Mar 31, 2021
ALX41Mar 31, 2021
AMPD14Mar 31, 2021
AMT1Mar 31, 2021
ANAPC11Mar 31, 2021
ANK21Mar 31, 2021
ANKRD115Mar 31, 2021
ANKRD2610Mar 31, 2021
ANLN1Mar 31, 2021
ANO101Mar 31, 2021
ANO31Mar 31, 2021
ANO51Mar 31, 2021
ANTXR11Mar 31, 2021
AOPEP40Mar 31, 2021
AP1B12Mar 31, 2021
APC370Dec 8, 2022
APOA51Mar 31, 2021
APOB14Mar 31, 2021
APOBEC3B7Mar 31, 2021
APOBEC3B-AS12Mar 31, 2021
APOE3Dec 8, 2022
APOL12Dec 8, 2022
APP2Mar 31, 2021
APPL11Mar 31, 2021
AQP51Mar 31, 2021
AQP5-AS11Mar 31, 2021
AR6Mar 31, 2021
ARCN11Mar 31, 2021
ARFGEF1-DT1Mar 31, 2021
ARHGAP312Mar 31, 2021
ARHGEF11Mar 31, 2021
ARHGEF102Mar 31, 2021
ARMC22Mar 31, 2021
ARMS21Mar 31, 2021
ARSA1Mar 31, 2021
ARSB1Mar 31, 2021
ARSL2Mar 31, 2021
ASB101Mar 31, 2021
ASCL11Mar 31, 2021
ASIC4-AS11Mar 31, 2021
ASPA1Mar 31, 2021
ASPM1Mar 31, 2021
ASPN1Mar 31, 2021
ASXL11Mar 31, 2021
ASXL21Mar 31, 2021
ASXL33Mar 31, 2021
ATIC1Mar 31, 2021
ATM328Mar 31, 2021
ATN13Mar 31, 2021
ATP12A1Mar 31, 2021
ATP1A21Mar 31, 2021
ATP2A21Mar 31, 2021
ATP6V0D1-DT1Mar 31, 2021
ATP7B11Mar 31, 2021
ATP8B12Mar 31, 2021
ATP8B1-AS11Mar 31, 2021
ATR3Mar 31, 2021
ATRX3Mar 31, 2021
ATXN13Mar 31, 2021
ATXN21Mar 31, 2021
ATXN36Mar 31, 2021
AUH1Mar 31, 2021
AXIN25Mar 31, 2021
BACH22Mar 31, 2021
BAG31Mar 31, 2021
BAP12Mar 31, 2021
BARD185Mar 31, 2021
BBS11Mar 31, 2021
BBS101Mar 31, 2021
BBS123Mar 31, 2021
BBS42Mar 31, 2021
BBS93Mar 31, 2021
BCHE1Mar 31, 2021
BCKDHB1Mar 31, 2021
BCL2L13Mar 31, 2021
BCOR2Mar 31, 2021
BCORL11Mar 31, 2021
BCS1L1Mar 31, 2021
BDNF1Mar 31, 2021
BDP12Mar 31, 2021
BEAN13Mar 31, 2021
BEAN1-AS11Mar 31, 2021
BEST11Mar 31, 2021
BFSP11Mar 31, 2021
BFSP21Mar 31, 2021
BFSP2-AS11Mar 31, 2021
BGN1Mar 31, 2021
BIVM-ERCC512Mar 31, 2021
BLM2Mar 31, 2021
BMPR1A19Mar 31, 2021
BMPR22Mar 31, 2021
BRAF9Mar 31, 2021
BRCA1655Mar 31, 2021
BRCA2933Mar 31, 2021
BRIP180Mar 31, 2021
BRPF11Mar 31, 2021
BSND1Mar 31, 2021
BTD4Mar 31, 2021
BUB1B3Mar 31, 2021
BUB1B-PAK61Mar 31, 2021
C10orf551Mar 31, 2021
C11orf65110Mar 31, 2021
C17orf1072Mar 31, 2021
C1QTNF51Mar 31, 2021
C2CD32Mar 31, 2021
C31Mar 31, 2021
C52Mar 31, 2021
C61Mar 31, 2021
CACNA1A1Mar 31, 2021
CACNA1B3Mar 31, 2021
CACNA1C2Mar 31, 2021
CACNA1C-AS11Mar 31, 2021
CACNA1D4Mar 31, 2021
CACNA1E2Mar 31, 2021
CACNA1H3Mar 31, 2021
CACNA1S4Mar 31, 2021
CACNB23Mar 31, 2021
CALR1Mar 31, 2021
CAMK2B1Mar 31, 2021
CAMTA11Mar 31, 2021
CAPN101Mar 31, 2021
CAPN121Mar 31, 2021
CAPN131Mar 31, 2021
CAPN141Mar 31, 2021
CAPN151Mar 31, 2021
CAPN32Mar 31, 2021
CARD112Mar 31, 2021
CARD142Mar 31, 2021
CASP12Mar 31, 2021
CASP81Mar 31, 2021
CASQ11Mar 31, 2021
CASR2Mar 31, 2021
CAT1Mar 31, 2021
CATIP-AS21Mar 31, 2021
CAV11Mar 31, 2021
CAVIN11Mar 31, 2021
CBS2Mar 31, 2021
CC2D2A6Mar 31, 2021
CCDC1581Mar 31, 2021
CCDC331Mar 31, 2021
CCDC406Mar 31, 2021
CCDC501Mar 31, 2021
CCDC782Mar 31, 2021
CCDC88C2Mar 31, 2021
CCDST13Mar 31, 2021
CCL21Mar 31, 2021
CCR51Mar 31, 2021
CCR5AS1Mar 31, 2021
CD1511Mar 31, 2021
CD2071Mar 31, 2021
CD461Mar 31, 2021
CD961Mar 31, 2021
CDC452Mar 31, 2021
CDH1110Mar 31, 2021
CDH103Mar 31, 2021
CDH152Mar 31, 2021
CDH239Mar 31, 2021
CDK131Mar 31, 2021
CDK41Mar 31, 2021
CDK5RAP22Mar 31, 2021
CDKL51Mar 31, 2021
CDKN1B3Mar 31, 2021
CDKN1C2Mar 31, 2021
CDKN2A2Mar 31, 2021
CDSN2Mar 31, 2021
CEBPA1Mar 31, 2021
CEL1Mar 31, 2021
CENPF2Mar 31, 2021
CENPP1Mar 31, 2021
CEP2906Mar 31, 2021
CEP571Mar 31, 2021
CERS51Mar 31, 2021
CFAP2512Mar 31, 2021
CFAP653Mar 31, 2021
CFAP961Mar 31, 2021
CFH1Mar 31, 2021
CFP1Mar 31, 2021
CFTR10Mar 31, 2021
CFTR-AS14Mar 31, 2021
CHD21Mar 31, 2021
CHD31Mar 31, 2021
CHD44Mar 31, 2021
CHD75Mar 31, 2021
CHD82Mar 31, 2021
CHEK2107Dec 8, 2022
CHMP2B1Mar 31, 2021
CHRNA41Mar 31, 2021
CHRNA51Mar 31, 2021
CHRND3Mar 31, 2021
CHRNE3Mar 31, 2021
CHRNG4Mar 31, 2021
CHROMR1Mar 31, 2021
CHST101Mar 31, 2021
CIC1Mar 31, 2021
CILP3Mar 31, 2021
CISD21Mar 31, 2021
CISH1Mar 31, 2021
CITED21Mar 31, 2021
CLCN21Mar 31, 2021
CLCN54Mar 31, 2021
CLEC1A1Mar 31, 2021
CLIP11Mar 31, 2021
CLN51Mar 31, 2021
CLN62Mar 31, 2021
CLN81Mar 31, 2021
CLRN11Mar 31, 2021
CLRN1-AS11Mar 31, 2021
CMYA51Mar 31, 2021
CNGA33Mar 31, 2021
CNGB11Mar 31, 2021
CNGB31Mar 31, 2021
CNOT21Mar 31, 2021
COG51Mar 31, 2021
COG71Mar 31, 2021
COL10A11Mar 31, 2021
COL11A11Mar 31, 2021
COL11A21Mar 31, 2021
COL12A13Mar 31, 2021
COL17A12Mar 31, 2021
COL2A11Mar 31, 2021
COL3A11Mar 31, 2021
COL4A13Mar 31, 2021
COL4A21Mar 31, 2021
COL4A31Mar 31, 2021
COL4A43Mar 31, 2021
COL4A51Mar 31, 2021
COL5A12Mar 31, 2021
COL5A25Mar 31, 2021
COL6A11Mar 31, 2021
COL6A23Mar 31, 2021
COL6A34Mar 31, 2021
COL6A61Mar 31, 2021
COL7A111Mar 31, 2021
COL8A21Mar 31, 2021
COL9A12Mar 31, 2021
COL9A21Mar 31, 2021
COL9A35Mar 31, 2021
COLGALT11Mar 31, 2021
COLQ1Mar 31, 2021
COMP3Mar 31, 2021
COQ21Mar 31, 2021
COQ61Mar 31, 2021
COQ91Mar 31, 2021
CP2Mar 31, 2021
CPA63Mar 31, 2021
CPOX1Mar 31, 2021
CPT1A1Mar 31, 2021
CR11Mar 31, 2021
CRAT1Mar 31, 2021
CREBBP2Mar 31, 2021
CRIPTO1Mar 31, 2021
CRP1Mar 31, 2021
CRTAP2Mar 31, 2021
CRX1Mar 31, 2021
CRYBA21Mar 31, 2021
CSF1R2Mar 31, 2021
CSRP31Mar 31, 2021
CTBP23Mar 31, 2021
CTHRC11Mar 31, 2021
CTNNA15Mar 31, 2021
CTNNA21Mar 31, 2021
CTNNB11Mar 31, 2021
CTNND12Mar 31, 2021
CTNS2Mar 31, 2021
CTSC2Mar 31, 2021
CTSD1Mar 31, 2021
CTSK1Mar 31, 2021
CTU21Mar 31, 2021
CTXN2-AS11Mar 31, 2021
CUL31Mar 31, 2021
CX3CR11Mar 31, 2021
CXCR11Mar 31, 2021
CXCR41Mar 31, 2021
CYFIP21Mar 31, 2021
CYLD1Mar 31, 2021
CYLD-AS11Dec 8, 2022
CYP11A11Mar 31, 2021
CYP11B11Mar 31, 2021
CYP21A22Nov 18, 2022
CYP27A11Mar 31, 2021
CYP2C81Mar 31, 2021
CYP2C91Mar 31, 2021
CYP4V21Mar 31, 2021
DCAF171Mar 31, 2021
DCAF61Mar 31, 2021
DCC3Mar 31, 2021
DCHS14Mar 31, 2021
DCX1Mar 31, 2021
DDB23Mar 31, 2021
DDX3X1Mar 31, 2021
DDX411Mar 31, 2021
DEAF11Mar 31, 2021
DGUOK2Mar 31, 2021
DHCR241Mar 31, 2021
DHCR71Mar 31, 2021
DHDDS2Mar 31, 2021
DHFR4Mar 31, 2021
DHX381Mar 31, 2021
DIAPH21Mar 31, 2021
DICER14Mar 31, 2021
DIP2B1Mar 31, 2021
DIS3L24Mar 31, 2021
DLC11Mar 31, 2021
DLD1Mar 31, 2021
DLL31Mar 31, 2021
DLL41Mar 31, 2021
DLX41Mar 31, 2021
DMD4Mar 31, 2021
DMP14Mar 31, 2021
DNAAF11Mar 31, 2021
DNAH112Mar 31, 2021
DNAH171Mar 31, 2021
DNAH57Mar 31, 2021
DNAH94Mar 31, 2021
DNM21Mar 31, 2021
DNMBP2Mar 31, 2021
DNMT13Mar 31, 2021
DNMT3B2Mar 31, 2021
DOCK31Mar 31, 2021
DOK74Mar 31, 2021
DOLK1Mar 31, 2021
DPM11Mar 31, 2021
DPP62Mar 31, 2021
DPYD1Mar 31, 2021
DRG21Mar 31, 2021
DSC21Mar 31, 2021
DSC32Mar 31, 2021
DSE1Mar 31, 2021
DSG11Mar 31, 2021
DSG1-AS11Mar 31, 2021
DSP3Mar 31, 2021
DST2Mar 31, 2021
DSTYK1Mar 31, 2021
DTNA1Mar 31, 2021
DVL13Mar 31, 2021
DVL31Mar 31, 2021
DYNC1H13Mar 31, 2021
DYNC2H16Mar 31, 2021
DYRK1A1Mar 31, 2021
DYRK1B1Mar 31, 2021
EDAR1Mar 31, 2021
EEF21Mar 31, 2021
EEF2KMT1Mar 31, 2021
EFCAB102Mar 31, 2021
EFEMP21Mar 31, 2021
EGF3Mar 31, 2021
EGFR4Mar 31, 2021
EGR21Mar 31, 2021
EHBP11Mar 31, 2021
EHHADH1Mar 31, 2021
EHMT11Mar 31, 2021
EIF4G31Mar 31, 2021
ELN2Mar 31, 2021
ELN-AS11Mar 31, 2021
ELOVL51Mar 31, 2021
ENAM1Mar 31, 2021
ENG1Mar 31, 2021
ENTPD51Mar 31, 2021
EP3004Mar 31, 2021
EPAS13Mar 31, 2021
EPB411Mar 31, 2021
EPB421Mar 31, 2021
EPCAM6Mar 31, 2021
EPM2A3Mar 31, 2021
EPOR1Mar 31, 2021
ERBB21Mar 31, 2021
ERBB31Mar 31, 2021
ERBB42Mar 31, 2021
ERCC22Mar 31, 2021
ERCC31Mar 31, 2021
ERCC410Mar 31, 2021
ERCC512Mar 31, 2021
ERCC65Mar 31, 2021
ERCC82Mar 31, 2021
ESPN2Mar 31, 2021
ESR12Mar 31, 2021
ESR21Mar 31, 2021
ETFB1Mar 31, 2021
ETFDH2Mar 31, 2021
ETV63Mar 31, 2021
EVC1Mar 31, 2021
EVC25Mar 31, 2021
EXT12Mar 31, 2021
EXT22Mar 31, 2021
EYS10Mar 31, 2021
EZH21Mar 31, 2021
F112Mar 31, 2021
F11-AS11Mar 31, 2021
F22Dec 8, 2022
F58Dec 8, 2022
F82Mar 31, 2021
F91Mar 31, 2021
FAH1Mar 31, 2021
FAM111A2Mar 31, 2021
FAM111B1Mar 31, 2021
FAM161A1Mar 31, 2021
FAM20C1Mar 31, 2021
FAM83H1Mar 31, 2021
FANCA5Mar 31, 2021
FANCB1Mar 31, 2021
FANCC57Mar 31, 2021
FANCD25Mar 31, 2021
FANCD2OS2Mar 31, 2021
FANCE1Mar 31, 2021
FANCF1Mar 31, 2021
FANCG1Mar 31, 2021
FANCM6Mar 31, 2021
FARS21Mar 31, 2021
FASTKD22Mar 31, 2021
FAT138Mar 31, 2021
FAT28Mar 31, 2021
FBN13Mar 31, 2021
FBN23Mar 31, 2021
FBXO111Mar 31, 2021
FBXO75Mar 31, 2021
FCGR2B1Mar 31, 2021
FDFT12Mar 31, 2021
FFAR41Mar 31, 2021
FGD41Mar 31, 2021
FGF161Mar 31, 2021
FGF231Mar 31, 2021
FGFR12Mar 31, 2021
FGFR31Mar 31, 2021
FGG3Mar 31, 2021
FIS12Mar 31, 2021
FITM21Mar 31, 2021
FKBP1A1Mar 31, 2021
FKBP1A-SDCBP21Mar 31, 2021
FLCN2Mar 31, 2021
FLG13Mar 31, 2021
FLNB3Mar 31, 2021
FLNC3Mar 31, 2021
FLNC-AS12Mar 31, 2021
FN15Mar 31, 2021
FOXC11Mar 31, 2021
FOXC21Mar 31, 2021
FOXD31Mar 31, 2021
FOXD3-AS11Mar 31, 2021
FOXE11Mar 31, 2021
FOXE31Mar 31, 2021
FOXF11Mar 31, 2021
FOXN12Mar 31, 2021
FOXRED11Mar 31, 2021
FPGT-TNNI3K4Mar 31, 2021
FRAS19Mar 31, 2021
FREM18Mar 31, 2021
FREM26Mar 31, 2021
FSCN22Mar 31, 2021
FSHR1Mar 31, 2021
FSIP27Mar 31, 2021
FSIP2-AS14Mar 31, 2021
FTL1Mar 31, 2021
FUCA11Mar 31, 2021
FUT21Mar 31, 2021
FUT61Mar 31, 2021
FZD21Mar 31, 2021
G6PD2Mar 31, 2021
GAA10Mar 31, 2021
GALC3Mar 31, 2021
GALK11Mar 31, 2021
GALNT121Mar 31, 2021
GALT5Mar 31, 2021
GANAB3Mar 31, 2021
GAS11Mar 31, 2021
GAS2L21Mar 31, 2021
GATA11Mar 31, 2021
GATA43Mar 31, 2021
GATA51Mar 31, 2021
GATAD12Mar 31, 2021
GBE13Mar 31, 2021
GCDH2Mar 31, 2021
GCGR1Mar 31, 2021
GCKR1Mar 31, 2021
GCM21Mar 31, 2021
GDAP21Mar 31, 2021
GDF21Mar 31, 2021
GDF62Mar 31, 2021
GEN11Mar 31, 2021
GFAP1Mar 31, 2021
GFER1Mar 31, 2021
GFM12Mar 31, 2021
GH-LCR1Mar 31, 2021
GH11Mar 31, 2021
GHRL1Mar 31, 2021
GHRLOS1Mar 31, 2021
GHSR3Mar 31, 2021
GIGYF21Mar 31, 2021
GIPC31Mar 31, 2021
GJA11Mar 31, 2021
GJA82Mar 31, 2021
GJB21Mar 31, 2021
GJB32Mar 31, 2021
GJC21Mar 31, 2021
GLA1Mar 31, 2021
GLB13Mar 31, 2021
GLCCI12Mar 31, 2021
GLE11Mar 31, 2021
GLI11Mar 31, 2021
GLI26Mar 31, 2021
GLI31Mar 31, 2021
GLMN1Mar 31, 2021
GLS1Mar 31, 2021
GNAI31Mar 31, 2021
GNAS6Mar 31, 2021
GNAT21Mar 31, 2021
GNB11Mar 31, 2021
GNPTAB1Mar 31, 2021
GOLGA6L26Mar 31, 2021
GP1BB2Mar 31, 2021
GPC41Mar 31, 2021
GPD22Mar 31, 2021
GPR1431Mar 31, 2021
GPR1791Mar 31, 2021
GREB1L4Mar 31, 2021
GREM11Mar 31, 2021
GRHPR2Mar 31, 2021
GRID21Mar 31, 2021
GRIN2A1Mar 31, 2021
GRIN2B1Mar 31, 2021
GRIN2D1Mar 31, 2021
GRM11Mar 31, 2021
GSDME1Mar 31, 2021
GSR1Mar 31, 2021
GTF2H51Mar 31, 2021
GUCA1A1Nov 9, 2020
GUCA1ANB-GUCA1A1Nov 9, 2020
GUCY2D2Mar 31, 2021
GUSB1Mar 31, 2021
HABP21Mar 31, 2021
HACL11Mar 31, 2021
HADH1Mar 31, 2021
HARS11Mar 31, 2021
HAVCR21Mar 31, 2021
HBA11Mar 31, 2021
HBB1Mar 31, 2021
HDAC62Mar 31, 2021
HEXA4Mar 31, 2021
HEXB2Nov 24, 2022
HFE3Dec 8, 2022
HFE-AS12Dec 8, 2022
HGF2Mar 31, 2021
HGSNAT2Mar 31, 2021
HIVEP24Mar 31, 2021
HK12Mar 31, 2021
HLA-A2Mar 31, 2021
HLA-DRB12Mar 31, 2021
HLCS3Mar 31, 2021
HLCS-AS11Mar 31, 2021
HMBS2Mar 31, 2021
HMCN15Mar 31, 2021
HMMR1Mar 31, 2021
HMOX11Mar 31, 2021
HNF1A2Mar 31, 2021
HNRNPDL1Mar 31, 2021
HNRNPH21Mar 31, 2021
HOMER22Mar 31, 2021
HOXA131Mar 31, 2021
HOXA21Mar 31, 2021
HPS11Mar 31, 2021
HPS33Mar 31, 2021
HPS44Mar 31, 2021
HPS52Mar 31, 2021
HPS61Mar 31, 2021
HR1Mar 31, 2021
HRAS1Mar 31, 2021
HS6ST11Mar 31, 2021
HSALR12Mar 31, 2021
HSD17B41Mar 31, 2021
HSF41Mar 31, 2021
HSPB81Mar 31, 2021
HSPG211Mar 31, 2021
HTR1A1Mar 31, 2021
HTT1Mar 31, 2021
HYCC13Mar 31, 2021
HYDIN3Mar 31, 2021
HYLS11Mar 31, 2021
ICAM41Mar 31, 2021
ICAM4-AS11Mar 31, 2021
IDUA5Mar 31, 2021
IFIH12Mar 31, 2021
IFITM31Mar 31, 2021
IFNGR11Mar 31, 2021
IFT802Mar 31, 2021
IGF11Mar 31, 2021
IGF1R4Mar 31, 2021
IGF21Mar 31, 2021
IGF2R1Mar 31, 2021
IGHMBP21Mar 31, 2021
IL102Mar 31, 2021
IL1B1Mar 31, 2021
IL23R1Mar 31, 2021
IL31RA1Mar 31, 2021
IL4R1Mar 31, 2021
IL61Mar 31, 2021
ILDR12Mar 31, 2021
IMPG11Mar 31, 2021
IMPG22Mar 31, 2021
INF21Mar 31, 2021
INS1Mar 31, 2021
INS-IGF22Mar 31, 2021
INSL32Mar 31, 2021
INSL61Mar 31, 2021
INSR3Mar 31, 2021
IREB21Mar 31, 2021
IRF2BP21Mar 31, 2021
IRGM1Mar 31, 2021
IRS11Mar 31, 2021
IRS22Mar 31, 2021
IRS41Mar 31, 2021
ITGA2B1Mar 31, 2021
ITGA61Mar 31, 2021
ITGAM5Mar 31, 2021
ITGB31Mar 31, 2021
ITGB44Mar 31, 2021
ITM2B1Mar 31, 2021
ITPKC1Mar 31, 2021
JAK21Mar 31, 2021
JAK32Mar 31, 2021
JAKMIP11Mar 31, 2021
JPH12Mar 31, 2021
JPH21Mar 31, 2021
JPH31Mar 31, 2021
JUP1Mar 31, 2021
KALRN3Mar 31, 2021
KANK12Mar 31, 2021
KANSL11Mar 31, 2021
KAT6A1Mar 31, 2021
KAT6B1Mar 31, 2021
KBTBD131Mar 31, 2021
KCNA11Mar 31, 2021
KCNA21Mar 31, 2021
KCNA51Mar 31, 2021
KCNC11Mar 31, 2021
KCNC31Mar 31, 2021
KCND31Mar 31, 2021
KCNE11Mar 31, 2021
KCNH11Mar 31, 2021
KCNH24Mar 31, 2021
KCNH41Mar 31, 2021
KCNJ122Mar 31, 2021
KCNJ51Mar 31, 2021
KCNQ13Mar 31, 2021
KCNQ1-AS11Mar 31, 2021
KCNQ21Mar 31, 2021
KCNQ32Mar 31, 2021
KCNQ43Mar 31, 2021
KDM1A1Mar 31, 2021
KDM6B1Mar 31, 2021
KDR6Mar 31, 2021
KEL1Mar 31, 2021
KIDINS2201Mar 31, 2021
KIF1A1Mar 31, 2021
KIF1B6Mar 31, 2021
KIF1C1Mar 31, 2021
KIF21A2Mar 31, 2021
KIF73Mar 31, 2021
KIT5Mar 31, 2021
KL2Mar 31, 2021
KLC11Mar 31, 2021
KLF111Mar 31, 2021
KLHL402Mar 31, 2021
KLLN1Mar 31, 2021
KLRG11Mar 31, 2021
KMT2B3Mar 31, 2021
KMT2C3Mar 31, 2021
KMT2D4Mar 31, 2021
KNG11Mar 31, 2021
KNL14Mar 31, 2021
KRAS22Nov 22, 2022
KRT11Mar 31, 2021
KRT102Mar 31, 2021
KRT10-AS11Mar 31, 2021
KRT132Mar 31, 2021
KRT161Mar 31, 2021
KRT181Mar 31, 2021
KRT43Mar 31, 2021
KRT6C1Mar 31, 2021
KRT742Mar 31, 2021
KRT751Mar 31, 2021
KRT82Mar 31, 2021
KRT811Mar 31, 2021
KRT861Mar 31, 2021
KRT92Mar 31, 2021
KYAT1-SPOUT11Mar 31, 2021
L1CAM2Mar 31, 2021
LAMA28Mar 31, 2021
LAMA36Mar 31, 2021
LAMA42Mar 31, 2021
LAMB21Mar 31, 2021
LAMB34Mar 31, 2021
LAMC22Mar 31, 2021
LARS11Mar 31, 2021
LDLR4Mar 31, 2021
LDLRAD21Mar 31, 2021
LEF11Mar 31, 2021
LGR41Mar 31, 2021
LHCGR1Mar 31, 2021
LHX41Mar 31, 2021
LHX4-AS11Mar 31, 2021
LIAS1Mar 31, 2021
LINC013891Mar 31, 2021
LINC024561Mar 31, 2021
LIPC1Mar 31, 2021
LIPE2Mar 31, 2021
LIPE-AS12Mar 31, 2021
LMBR11Mar 31, 2021
LMO11Mar 31, 2021
LOC1001284941Mar 31, 2021
LOC1001291751Mar 31, 2021
LOC1001330771Mar 31, 2021
LOC1019275212Mar 31, 2021
LOC1027240582Mar 31, 2021
LOC1053715663Mar 31, 2021
LOC1060964161Mar 31, 2021
LOC1060990621Mar 31, 2021
LOC1065602111Mar 31, 2021
LOC1066943161Mar 31, 2021
LOC1067217851Oct 30, 2017
LOC1067808002Nov 18, 2022
LOC1068046131Mar 31, 2021
LOC1070753171Mar 31, 2021
LOC1071262881Mar 31, 2021
LOC1071335101Mar 31, 2021
LOC1073033383Mar 31, 2021
LOC1086604051Mar 31, 2021
LOC1086639932Mar 31, 2021
LOC1086639962Mar 31, 2021
LOC1094614843Mar 31, 2021
LOC1100112161Mar 31, 2021
LOC1106739721Mar 31, 2021
LOC1112585251Mar 31, 2021
LOC1115892157Mar 31, 2021
LOC1116744723Mar 31, 2021
LOC1124862231Mar 31, 2021
LOC1125298951Mar 31, 2021
LOC1129975401Mar 31, 2021
LOC1136871751Mar 31, 2021
LOC1137882971Mar 31, 2021
LOC1268056611Mar 31, 2021
LOC1268057931Mar 31, 2021
LOC1268057941Mar 31, 2021
LOC1268062521Mar 31, 2021
LOC1268063161Mar 31, 2021
LOC1268063731Mar 31, 2021
LOC1268064211Mar 31, 2021
LOC1268064271Mar 31, 2021
LOC1268064323Mar 31, 2021
LOC1268064901Mar 31, 2021
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ZFP571Mar 31, 2021
ZFPM21Mar 31, 2021
ZFPM2-AS11Mar 31, 2021
ZFYVE271Mar 31, 2021
ZIC11Mar 31, 2021
ZIM21Mar 31, 2021
ZKSCAN31Mar 31, 2021
ZMIZ11Mar 31, 2021
ZMYND111Mar 31, 2021
ZNF1421Mar 31, 2021
ZNF1481Mar 31, 2021
ZNF2761Mar 31, 2021
ZNF3411Mar 31, 2021
ZNF341-AS11Mar 31, 2021
ZNF4081Mar 31, 2021
ZNF4233Mar 31, 2021
ZNF4691Mar 31, 2021
ZP21Mar 31, 2021
ZSWIM61Mar 31, 2021

Condition

NameSubmissionsLast Updated
Abetalipoproteinaemia1Mar 31, 2021
Alzheimer disease1Dec 8, 2022
Alzheimer disease 21Dec 8, 2022
Aortic aneurysm, familial thoracic 81Mar 31, 2021
Arthrogryposis multiplex congenita 3, myogenic type1Mar 31, 2021
Ataxia-telangiectasia syndrome6Mar 31, 2021
Aural atresia, congenital1Mar 31, 2021
Autosomal dominant Parkinson disease 81Mar 31, 2021
Autosomal dominant ichthyosis vulgaris1Mar 31, 2021
Autosomal dominant polycystic kidney disease11Mar 31, 2021
Autosomal recessive ataxia, Beauce type1Mar 31, 2021
Autosomal recessive polycystic kidney disease5Apr 19, 2017
Beta-D-mannosidosis1Mar 31, 2021
Bile duct cancer10Mar 31, 2021
Breast-ovarian cancer, familial, susceptibility to, 160Mar 31, 2021
Breast-ovarian cancer, familial, susceptibility to, 2106Mar 31, 2021
Breast-ovarian cancer, familial, susceptibility to, 35Mar 31, 2021
Breast-ovarian cancer, familial, susceptibility to, 46Mar 31, 2021
Carcinoma of colon668Mar 31, 2021
Cataract 12 multiple types1Mar 31, 2021
Cerebral palsy, spastic quadriplegic, 21Mar 31, 2021
Cervical cancer1Mar 31, 2021
Charlevoix-Saguenay spastic ataxia2Mar 31, 2021
Ciliary dyskinesia, primary, 401Mar 31, 2021
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Mar 31, 2021
Colon cancer1Apr 1, 2019
Colorectal cancer1Dec 8, 2022
Congenital prothrombin deficiency1Dec 8, 2022
Crohn’s Disease1Dec 8, 2022
Dent disease type 11Mar 31, 2021
Desmoid tumor1Mar 31, 2021
Dystonia 161Mar 31, 2021
Dystonia 241Mar 31, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 31, 2021
Endometrial carcinoma138Mar 31, 2021
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Mar 31, 2021
Familial adenomatous polyposis 142Dec 7, 2022
Familial adenomatous polyposis 29Mar 31, 2021
Familial adenomatous polyposis 31Mar 31, 2021
Familial cancer of breast5Mar 31, 2021
Familial colorectal cancer4Nov 9, 2020
Familial multiple polyposis syndrome32Nov 9, 2020
Familial ovarian cancer51Mar 31, 2021
Familial pancreatic carcinoma11Mar 31, 2021
Fanconi anemia complementation group C5Mar 31, 2021
Fanconi anemia complementation group J2Mar 31, 2021
Fanconi anemia complementation group N1Mar 31, 2021
Focal segmental glomerulosclerosis, susceptibility to1Dec 8, 2022
Generalized juvenile polyposis/juvenile polyposis coli8Mar 31, 2021
Glycogen storage disease, type II1Mar 31, 2021
Hereditary breast ovarian cancer syndrome55Mar 31, 2021
Hereditary diffuse gastric adenocarcinoma11Mar 31, 2021
Hereditary factor XI deficiency disease1Nov 9, 2020
Hereditary pancreatitis2Mar 31, 2021
Hermansky-Pudlak syndrome 61Mar 31, 2021
Hypokalemic periodic paralysis, type 11Mar 31, 2021
Hypophosphatemic rickets, X-linked recessive1Mar 31, 2021
Immunodeficiency, common variable, 22Dec 8, 2022
Intellectual developmental disorder with autism and macrocephaly1Mar 31, 2021
Intellectual disability-epilepsy-extrapyramidal syndrome1Mar 31, 2021
Leber congenital amaurosis 61Mar 31, 2021
Leigh syndrome1Mar 31, 2021
Li-Fraumeni syndrome 13Mar 31, 2021
Li-Fraumeni syndrome 21Dec 8, 2022
Lissencephaly 9 with complex brainstem malformation1Mar 31, 2021
Long QT syndrome 111Mar 31, 2021
Lung cancer1Mar 31, 2021
Lynch syndrome137Mar 31, 2021
Lynch syndrome 81Mar 31, 2021
Malignant hyperthermia, susceptibility to, 51Mar 31, 2021
Malignant neoplasm of brain2Mar 31, 2021
Malignant tumor of breast1780Dec 8, 2022
Malignant tumor of thyroid gland2Mar 31, 2021
Marinesco-Sjögren syndrome1Mar 31, 2021
Metachromatic leukodystrophy, juvenile type1Mar 31, 2021
Microcephaly, normal intelligence and immunodeficiency4Mar 31, 2021
Multiple epiphyseal dysplasia type 11Mar 31, 2021
Muscular dystrophy2Mar 31, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Mar 31, 2021
Neurofibromatosis, type 21Mar 31, 2021
Niemann-Pick disease, type C13Mar 31, 2021
Ovarian cancer1Apr 1, 2019
PTEN hamartoma tumor syndrome1Mar 31, 2021
PULMONARY ALVEOLAR MICROLITHIASIS1Mar 31, 2021
Pancreatic cancer, susceptibility to, 310Mar 31, 2021
Pancreatitis1Dec 8, 2022
Papillary thyroid carcinoma1Mar 31, 2021
Peutz-Jeghers syndrome5Mar 31, 2021
Phenylketonuria2Mar 31, 2021
Pigmentary pallidal degeneration2Mar 31, 2021
Polycystic kidney disease692Feb 3, 2021
Polymerase proofreading-related adenomatous polyposis33Mar 31, 2021
Polyposis syndrome, hereditary mixed, 26Mar 31, 2021
Premature ovarian failure 101Mar 31, 2021
Progressive osseous heteroplasia1Mar 31, 2021
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1Mar 31, 2021
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1Mar 31, 2021
Pseudohypoparathyroidism1Mar 31, 2021
Pseudohypoparathyroidism type 1B1Mar 31, 2021
Pseudohypoparathyroidism type 1C1Mar 31, 2021
Pseudopseudohypoparathyroidism1Mar 31, 2021
Retinitis pigmentosa 11Mar 31, 2021
Rod-cone dystrophy1Nov 9, 2020
Rothmund-Thomson syndrome type 11Mar 31, 2021
Sandhoff disease1Nov 24, 2022
Smoking as a quantitative trait locus 31Mar 31, 2021
Spondylometaphyseal dysplasia - Sutcliffe type1Mar 31, 2021
Sterol carrier protein 2 deficiency1Mar 31, 2021
Subcutaneous panniculitis-like T-cell lymphoma1Mar 31, 2021
Thrombophilia 3 due to protein C deficiency1Dec 8, 2022
Thrombophilia caused by F2 prothrombin deficiency1Dec 8, 2022
Thrombophilia due to activated protein C resistance1Dec 8, 2022
Thyroid cancer, nonmedullary, 21Mar 31, 2021
Thyrotoxic periodic paralysis, susceptibility to, 11Mar 31, 2021
Triple-negative breast carcinoma1Mar 31, 2021
Tyrosinase-negative oculocutaneous albinism1Mar 31, 2021
White sponge nevus 11Mar 31, 2021
Wilson disease1Mar 31, 2021
X-linked cerebral adrenoleukodystrophy1Mar 31, 2021
X-linked recessive nephrolithiasis with renal failure1Mar 31, 2021
X-linked spondyloepimetaphyseal dysplasia2Mar 31, 2021
not provided3865Dec 8, 2022
not specified382Mar 31, 2021
von Willebrand disease type 11Mar 31, 2021
von Willebrand disease type 21Mar 31, 2021
von Willebrand disease type 31Nov 9, 2020