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Department of Pediatrics, Samsung Medical Center (Samsung Medical Center), SMCPD

General information

Department of Pediatrics, Samsung Medical Center, SMCPD
Samsung Medical Center
Seoul
South Korea

Organization ID: 507448

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 268

Gene

GeneSubmissionsLast Updated
AAAS1Feb 13, 2020
ACADSB1Feb 13, 2020
ACE2Feb 13, 2020
ACTG11Feb 13, 2020
ADAR1Feb 13, 2020
ADAT31Feb 13, 2020
ADD31Feb 13, 2020
ADNP2Feb 13, 2020
AGT1Feb 13, 2020
ALPL1Feb 13, 2020
ALS21Feb 13, 2020
AMPD21Feb 13, 2020
ANK11Feb 13, 2020
AP3B21Feb 13, 2020
ARCN11Feb 13, 2020
ARFGEF21Feb 13, 2020
ARHGEF22Feb 13, 2020
ARID1B1Feb 13, 2020
ARID21Feb 13, 2020
ARVCF1Feb 13, 2020
ASXL12Feb 13, 2020
ATM2Feb 13, 2020
ATPAF21Feb 13, 2020
ATR3Feb 13, 2020
ATRX1Feb 13, 2020
AUTS21Feb 13, 2020
B3GALNT21Feb 13, 2020
BCAP311Feb 13, 2020
BLM3Feb 13, 2020
BPTF1Feb 13, 2020
BUB1B1Feb 13, 2020
BUB1B-PAK61Feb 13, 2020
CARS21Feb 13, 2020
CBL1Feb 13, 2020
CC2D2A1Feb 13, 2020
CCDC88A1Feb 13, 2020
CDC451Feb 13, 2020
CDC61Feb 13, 2020
CDK191Feb 13, 2020
CDON1Feb 13, 2020
CENPF2Feb 13, 2020
CEP2901Feb 13, 2020
CHD71Feb 13, 2020
CLCN41Feb 13, 2020
COL4A11Feb 13, 2020
CPEB1-AS11Feb 13, 2020
CPT21Feb 13, 2020
CSPP11Feb 13, 2020
CTBP11Feb 13, 2020
CTBP1-AS1Feb 13, 2020
DDX111Feb 13, 2020
DHCR72Feb 13, 2020
DIAPH11Feb 13, 2020
DNA21Feb 13, 2020
DOCK63Feb 13, 2020
DOCK6-AS11Feb 13, 2020
EIF2B11Feb 13, 2020
ELAC21Feb 13, 2020
EMC11Feb 13, 2020
EMC1-AS11Feb 13, 2020
EP3001Feb 13, 2020
EPG53Feb 13, 2020
ERCC41Feb 13, 2020
EXT11Feb 13, 2020
F81Feb 13, 2020
FAM111A1Feb 13, 2020
FANCA2Feb 13, 2020
FANCE1Feb 13, 2020
FANCI2Feb 13, 2020
FAT41Feb 13, 2020
FCN31Feb 13, 2020
FGF81Feb 13, 2020
FGFRL11Feb 13, 2020
FH2Feb 13, 2020
FLNA1Feb 13, 2020
FRAS11Feb 13, 2020
FREM11Feb 13, 2020
FREM22Feb 13, 2020
FRMD4A2Feb 13, 2020
GATA41Feb 13, 2020
GATAD11Feb 13, 2020
GLI22Feb 13, 2020
GNAO11Feb 13, 2020
GNB11Feb 13, 2020
GRIN2A1Feb 13, 2020
GRIP11Feb 13, 2020
HDAC41Feb 13, 2020
HPRT11Feb 13, 2020
HSPG25Feb 13, 2020
IBA571Feb 13, 2020
IFT1221Feb 13, 2020
IFT1402Feb 13, 2020
IFT742Feb 13, 2020
IGF11Feb 13, 2020
INCA11Feb 13, 2020
IQSEC21Feb 13, 2020
ITGB61Feb 13, 2020
JARID21Feb 13, 2020
KIF1C1Feb 13, 2020
KIF2A1Feb 13, 2020
KMT2A2Feb 13, 2020
KMT2C3Feb 13, 2020
KMT2D3Feb 13, 2020
LARS11Feb 13, 2020
LDLRAD21Feb 13, 2020
LINC024561Feb 13, 2020
LINS11Feb 13, 2020
LMNB11Feb 13, 2020
LOC1027240581Feb 13, 2020
LOC1114130291Feb 13, 2020
LOC1268056551Feb 13, 2020
LOC1268060601Feb 13, 2020
LOC1299939611Feb 13, 2020
LOC1299985951Feb 13, 2020
LOC1300659981Feb 13, 2020
LRP52Feb 13, 2020
MAK161Feb 13, 2020
MASP11Feb 13, 2020
MBD51Feb 13, 2020
MCM41Feb 13, 2020
MCPH11Feb 13, 2020
MED171Feb 13, 2020
MFF1Feb 13, 2020
MFSD2A1Feb 13, 2020
MIPEP1Feb 13, 2020
MKS11Feb 13, 2020
MTFMT2Feb 13, 2020
NACC11Feb 13, 2020
NAT8L1Feb 13, 2020
NF11Feb 13, 2020
NSD11Feb 13, 2020
NT5C21Feb 13, 2020
NUS11Feb 13, 2020
OTX21Feb 13, 2020
PCLO1Feb 13, 2020
PCNT3Feb 13, 2020
PDGFRB1Feb 13, 2020
PEX11Feb 13, 2020
PEX161Feb 13, 2020
PEX53Feb 13, 2020
PLEKHG21Feb 13, 2020
PLK41Feb 13, 2020
POC1A1Feb 13, 2020
POLG1Feb 13, 2020
POLGARF1Feb 13, 2020
PRDM161Feb 13, 2020
PRKDC4Feb 13, 2020
PSAT12Feb 13, 2020
PTDSS11Feb 13, 2020
PYCR11Feb 13, 2020
PYCR21Feb 13, 2020
QARS11Feb 13, 2020
RAB3GAP22Feb 13, 2020
RAD51C1Feb 13, 2020
RAG12Feb 13, 2020
RBBP81Feb 13, 2020
RBM281Feb 13, 2020
RET1Feb 13, 2020
RFX71Feb 13, 2020
RPGRIP11Feb 13, 2020
RPGRIP1L1Feb 13, 2020
RREB12Feb 13, 2020
RTEL12Feb 13, 2020
RTEL1-TNFRSF6B2Feb 13, 2020
RTTN1Feb 13, 2020
SALL11Feb 13, 2020
SAMD9L3Feb 13, 2020
SBF12Feb 13, 2020
SCAMP41Feb 13, 2020
SCARF21Feb 13, 2020
SCN1A1Feb 13, 2020
SCN1A-AS11Feb 13, 2020
SCN4A2Feb 13, 2020
SCN9A1Feb 13, 2020
SCRIB1Feb 13, 2020
SDHD1Feb 13, 2020
SEC24C1Feb 13, 2020
SETD51Feb 13, 2020
SIM11Feb 13, 2020
SLC12A51Feb 13, 2020
SLC13A51Feb 13, 2020
SLC1A41Feb 13, 2020
SLX41Feb 13, 2020
SMARCA21Feb 13, 2020
SMARCA42Feb 13, 2020
SMC1A1Feb 13, 2020
SMO1Feb 13, 2020
SPOCK11Feb 13, 2020
SPTAN11Feb 13, 2020
SPTLC11Feb 13, 2020
SRCAP2Feb 13, 2020
STT3A1Feb 13, 2020
TAF21Feb 13, 2020
TAT1Feb 13, 2020
TAT-AS11Feb 13, 2020
TBC1D323Feb 13, 2020
TBCE1Feb 13, 2020
TBL21Feb 13, 2020
TBX21Feb 13, 2020
TCF42Feb 13, 2020
TCOF11Feb 13, 2020
TCTN21Feb 13, 2020
TECPR21Feb 13, 2020
TELO21Feb 13, 2020
TERT1Feb 13, 2020
TFAP2C2Feb 13, 2020
TMEM2161Feb 13, 2020
TMEM671Feb 13, 2020
TP53RK1Feb 13, 2020
TP53RK-DT1Feb 13, 2020
TRPS13Feb 13, 2020
TSEN541Feb 13, 2020
TTI22Feb 13, 2020
TUBA81Feb 13, 2020
TUBGCP61Feb 13, 2020
UBR12Feb 13, 2020
UNC801Feb 13, 2020
VLDLR1Feb 13, 2020
VPS13B3Feb 13, 2020
VPS33B2Feb 13, 2020
VPS531Feb 13, 2020
WDFY31Feb 13, 2020
YME1L11Feb 13, 2020
ZNF2762Feb 13, 2020

Condition

NameSubmissionsLast Updated
Microcephaly268Feb 13, 2020