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Diagnostic Genetics (Severance Hospital, Yonsei University College of Medicine)

General information

Diagnostic Genetics
Severance Hospital, Yonsei University College of Medicine
Yonsei-ro, Seodaemun-gu, Seoul, Republic of Korea
Seoul
South Korea - 03722

Organization ID: 507610

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 109

Gene

GeneSubmissionsLast Updated
ADCY51Dec 4, 2022
ANK12Jun 14, 2023
ARID1B1Dec 4, 2022
ATP1A31Dec 4, 2022
BTK3Mar 7, 2023
CACNA1A1Dec 4, 2022
CACNA1C1Dec 4, 2022
CACNA1H1Dec 4, 2022
CDKL54Dec 4, 2022
CHD22Dec 4, 2022
COL4A11Dec 4, 2022
DNM13Dec 4, 2022
DNM1L1Dec 4, 2022
DYNC1H11Dec 4, 2022
EEF1A21Dec 4, 2022
EIF2B32Jul 14, 2020
FOXP12Dec 4, 2022
GABRA13Dec 4, 2022
GABRB21Dec 4, 2022
GABRG21Dec 4, 2022
GATA22Mar 7, 2023
GPI1Jun 14, 2023
GRIN2B1Dec 4, 2022
GRIN2D1Dec 4, 2022
HCN12Dec 4, 2022
HNRNPK1Dec 4, 2022
HNRNPU1Dec 4, 2022
IL10RA1Mar 7, 2023
IL2RG2Mar 7, 2023
IQSEC22Dec 4, 2022
ISG151Mar 7, 2023
KAT6A1Dec 4, 2022
KCNA22Dec 4, 2022
KCNB12Dec 4, 2022
KCNQ21Dec 4, 2022
KIF1A1Dec 4, 2022
KRAS1Mar 7, 2023
LOC1027240581Dec 4, 2022
LOC1138395161Dec 4, 2022
LOC1268628641Dec 4, 2022
LOC1268632531Mar 7, 2023
MBD51Dec 4, 2022
MECP21Dec 4, 2022
NRAS1Mar 7, 2023
OTUD7A1Dec 4, 2022
PAFAH1B11Dec 4, 2022
PCDH191Dec 4, 2022
PIEZO11Jun 14, 2023
PRF11Mar 7, 2023
PTEN1Dec 4, 2022
PURA1Dec 4, 2022
SCN1A3Dec 4, 2022
SCN2A7Dec 4, 2022
SCN8A4Dec 4, 2022
SETD1B1Dec 4, 2022
SH2D1A1Mar 7, 2023
SHANK21Dec 4, 2022
SHANK31Dec 4, 2022
SIN3A1Dec 4, 2022
SLC1A21Dec 4, 2022
SLC6A11Dec 4, 2022
SNHG141Dec 4, 2022
SON1Dec 4, 2022
SPTB1Jun 14, 2023
STAT32Mar 7, 2023
STX1B1Dec 4, 2022
STXBP17Dec 4, 2022
TET21Mar 7, 2023
TET2-AS11Mar 7, 2023
TSC21Dec 4, 2022
TUBA1A2Dec 4, 2022
UBA11Mar 7, 2023
UBE3A1Dec 4, 2022
UNC13D2Mar 7, 2023
ZBTB181Dec 4, 2022
ZNF4621Dec 4, 2022

Condition

NameSubmissionsLast Updated
Alternating hemiplegia of childhood 21Dec 4, 2022
Angelman syndrome1Dec 4, 2022
Au-Kline syndrome1Dec 4, 2022
Autism, susceptibility to, 171Dec 4, 2022
Autoimmune lymphoproliferative syndrome type 42Mar 7, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Dec 4, 2022
Brain small vessel disease 1 with or without ocular anomalies1Dec 4, 2022
Coffin-Siris syndrome 11Dec 4, 2022
Developmental and epileptic encephalopathy 921Dec 4, 2022
Developmental and epileptic encephalopathy 942Dec 4, 2022
Developmental and epileptic encephalopathy, 115Dec 4, 2022
Developmental and epileptic encephalopathy, 134Dec 4, 2022
Developmental and epileptic encephalopathy, 191Dec 4, 2022
Developmental and epileptic encephalopathy, 24Dec 4, 2022
Developmental and epileptic encephalopathy, 242Dec 4, 2022
Developmental and epileptic encephalopathy, 262Dec 4, 2022
Developmental and epileptic encephalopathy, 31A3Dec 4, 2022
Developmental and epileptic encephalopathy, 322Dec 4, 2022
Developmental and epileptic encephalopathy, 331Dec 4, 2022
Developmental and epileptic encephalopathy, 47Dec 4, 2022
Developmental and epileptic encephalopathy, 411Dec 4, 2022
Developmental and epileptic encephalopathy, 421Dec 4, 2022
Developmental and epileptic encephalopathy, 461Dec 4, 2022
Developmental and epileptic encephalopathy, 541Dec 4, 2022
Developmental and epileptic encephalopathy, 71Dec 4, 2022
Developmental and epileptic encephalopathy, 741Dec 4, 2022
Developmental and epileptic encephalopathy, 91Dec 4, 2022
Dyskinesia with orofacial involvement, autosomal dominant1Dec 4, 2022
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Dec 4, 2022
Epilepsy, childhood absence, susceptibility to, 61Dec 4, 2022
Epilepsy, idiopathic generalized, susceptibility to, 132Dec 4, 2022
Familial hemophagocytic lymphohistiocytosis 21Mar 7, 2023
Familial hemophagocytic lymphohistiocytosis 32Mar 7, 2023
Generalized epilepsy with febrile seizures plus, type 21Dec 4, 2022
Generalized epilepsy with febrile seizures plus, type 91Dec 4, 2022
Hemolytic anemia2Jun 14, 2023
Hereditary spastic paraplegia 301Dec 4, 2022
Hereditary spherocytosis3Jun 14, 2023
Immunodeficiency 751Mar 7, 2023
Inflammatory bowel disease 281Mar 7, 2023
Intellectual developmental disorder with seizures and language delay1Dec 4, 2022
Intellectual disability, X-linked 12Dec 4, 2022
Intellectual disability, autosomal dominant 11Dec 4, 2022
Intellectual disability, autosomal dominant 131Dec 4, 2022
Intellectual disability, autosomal dominant 221Dec 4, 2022
Intellectual disability, autosomal dominant 61Dec 4, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Dec 4, 2022
Lissencephaly due to LIS1 mutation1Dec 4, 2022
Macrocephaly-autism syndrome1Dec 4, 2022
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1Mar 7, 2023
Monocytopenia with susceptibility to infections2Mar 7, 2023
Myoclonic-astatic epilepsy1Dec 4, 2022
Neurodevelopmental delay1Dec 4, 2022
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures1Dec 4, 2022
Non-syndromic intellectual disability2Dec 4, 2022
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Dec 4, 2022
Phelan-McDermid syndrome1Dec 4, 2022
Rett syndrome1Dec 4, 2022
SIN3A-related intellectual disability syndrome due to a point mutation1Dec 4, 2022
STAT3-related early-onset multisystem autoimmune disease2Mar 7, 2023
Severe myoclonic epilepsy in infancy2Dec 4, 2022
Tuberous sclerosis 21Dec 4, 2022
Tubulinopathy2Dec 4, 2022
VEXAS syndrome1Mar 7, 2023
Vanishing white matter disease2Jul 14, 2020
Weiss-Kruszka syndrome1Dec 4, 2022
X-linked agammaglobulinemia3Mar 7, 2023
X-linked lymphoproliferative disease due to SH2D1A deficiency1Mar 7, 2023
X-linked severe combined immunodeficiency2Mar 7, 2023
ZTTK syndrome1Dec 4, 2022