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Unidad de Genómica Garrahan (Hospital de Pediatría Garrahan), GenomicaHPG

General information

Unidad de Genómica Garrahan, GenomicaHPG
Hospital de Pediatría Garrahan
Combate de los Pozos 1881
Buenos Aires
Distrito Federal
Argentina - 1245
http://www.garrahan.gov.ar/lab/index.php/laboratorios
Organization ID: 507274

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2396

Gene

GeneSubmissionsLast Updated
ACD3Jan 25, 2024
ACOX11Jun 12, 2024
ACP53Jan 25, 2024
ACTA23Jan 25, 2024
ADA3Jan 25, 2024
ADA216Jan 25, 2024
ADAM179Jan 25, 2024
ADAR14Jun 11, 2024
AICDA5Jan 25, 2024
AIRE8Jan 25, 2024
ALDH7A12Aug 28, 2022
ALPI2Jan 25, 2024
AP1S38Jan 25, 2024
AP3B112Jan 25, 2024
AP3D121Nov 13, 2023
AP4B11Jan 25, 2024
APTX1Jan 15, 2024
ARHGEF16Jan 25, 2024
ARPC1B2Jan 25, 2024
ARX1Jan 24, 2024
ATAD3A9Jan 25, 2024
ATG4A2Jan 25, 2024
ATM20Jan 25, 2024
ATP1A31Aug 28, 2022
ATRIP1Nov 13, 2023
ATRIP-TREX11Nov 13, 2023
BACH27Jan 25, 2024
BCL11B2Jan 25, 2024
BLNK9Jan 25, 2024
BOLA21Nov 13, 2023
BTK4Jan 25, 2024
C11orf657Jan 25, 2024
C12orf572Jan 25, 2024
C1QA1Jan 25, 2024
C4B2Jan 25, 2024
C5orf581Jan 25, 2024
CACNA1A1Jan 15, 2024
CARD1124Jan 25, 2024
CARD1416Jan 25, 2024
CARD96Jan 25, 2024
CARMIL27Jan 25, 2024
CASD11Jan 15, 2024
CASP104Nov 13, 2023
CASP84Jan 25, 2024
CCBE110Jan 25, 2024
CCDC1221Jan 25, 2024
CD192Jan 25, 2024
CD2475Nov 13, 2023
CD275Jan 25, 2024
CD27-AS15Jan 25, 2024
CD281Jan 25, 2024
CD3D3Jan 25, 2024
CD3E9Jan 25, 2024
CD49Jan 25, 2024
CD404Jan 25, 2024
CD40LG2Jan 25, 2024
CD703Jan 25, 2024
CD79B2Jan 25, 2024
CD933Jan 25, 2024
CDKL53Jan 24, 2024
CHD21Aug 28, 2022
CHUK3Jan 25, 2024
CIB19Jan 25, 2024
CLN51Aug 28, 2022
COPA8Jan 25, 2024
COPG19Jan 25, 2024
CORO1A1Nov 13, 2023
CR27Jan 25, 2024
CRACR2A19Jan 25, 2024
CRELD11Jan 25, 2024
CTC110Jan 25, 2024
CTLA41Nov 13, 2023
CTNNBL12Jan 25, 2024
CTPS110Jan 25, 2024
CXCR21Jan 25, 2024
CXCR43Jan 25, 2024
CYBA9Jan 25, 2024
CYBC15Jan 25, 2024
DBR16Jan 25, 2024
DCLRE1B2Jan 25, 2024
DCLRE1C6Jan 25, 2024
DDX271Jan 25, 2024
DEF62Jan 25, 2024
DEPDC53Jan 15, 2024
DIAPH13Jan 25, 2024
DKC12Jan 25, 2024
DNASE13Jan 25, 2024
DNASE1L36Jan 25, 2024
DNASE21Jan 25, 2024
DNM11Aug 28, 2022
DOCK227Jan 25, 2024
DOCK866Jan 25, 2024
DOCK8-AS13Nov 15, 2023
ELF41Jan 25, 2024
EPG516Jan 25, 2024
ERAP135Jan 25, 2024
ERBIN9Jan 25, 2024
FAAP246Jan 25, 2024
FADD1Nov 13, 2023
FAS8Jan 25, 2024
FASLG1Nov 13, 2023
FAT429Jan 25, 2024
FBN111Jan 25, 2024
FCGR3A3Jan 25, 2024
FCHO121Jan 25, 2024
FERMT118Jan 25, 2024
FNIP16Jan 25, 2024
FOXN110Jan 25, 2024
FOXP33Jan 25, 2024
GABRA12Jan 15, 2024
GABRA53Mar 15, 2024
GABRB34Mar 15, 2024
GATA25Jan 25, 2024
GCH12Jan 15, 2024
GH-LCR2Jan 25, 2024
GIMAP62Jan 25, 2024
GINS12Jan 25, 2024
GNAO11Jan 15, 2024
GRIN12Dec 7, 2022
HAVCR23Jan 25, 2024
HBA-LCR1Jan 15, 2024
IAH18Nov 13, 2023
ICOS3Jan 25, 2024
IFIH113Jan 25, 2024
IFNAR15Jan 25, 2024
IFNAR29Jan 25, 2024
IFNAR2-IL10RB15Jan 25, 2024
IFNGR18Jan 25, 2024
IFNGR27Jan 25, 2024
IGH6Jan 25, 2024
IGHM4Jan 25, 2024
IGLL11Jan 25, 2024
IKBKB7Jan 25, 2024
IKZF14Nov 13, 2023
IKZF25Jan 25, 2024
IKZF33Jan 25, 2024
IL105Nov 13, 2023
IL10RA5Jan 25, 2024
IL10RB9Jan 25, 2024
IL12B3Nov 13, 2023
IL12RB115Jan 25, 2024
IL12RB28Nov 13, 2023
IL17A1Jan 25, 2024
IL17RA20Jan 25, 2024
IL17RC8Jan 25, 2024
IL18BP1Jan 25, 2024
IL193Nov 13, 2023
IL1RN17Jan 25, 2024
IL211Nov 13, 2023
IL21R4Jan 25, 2024
IL22RA19Jan 25, 2024
IL23R5Jan 25, 2024
IL242Jan 25, 2024
IL2RA9Jan 25, 2024
IL2RB10Jan 25, 2024
IL2RG1Jan 25, 2024
IL36RN5Jan 25, 2024
IL6R9Jan 25, 2024
IL6ST4Jan 25, 2024
IL71Jan 25, 2024
IL7R12Jan 25, 2024
INO806Jan 25, 2024
INO80-AS11Jan 25, 2024
INSL65Jan 25, 2024
INSYN2B1Jan 25, 2024
IRAK14Jan 25, 2024
IRAK43Nov 13, 2023
IRF113Jan 25, 2024
IRF2BP23Jan 25, 2024
IRF32Jan 25, 2024
IRF45Jan 25, 2024
IRF714Jan 25, 2024
IRF810Jan 25, 2024
ISG155Nov 15, 2023
ITCH8Jan 25, 2024
ITGB216Jan 25, 2024
ITK6Jan 25, 2024
ITPKB9Jan 25, 2024
JAK118Jan 25, 2024
JAK25Jan 25, 2024
JAK317Jan 25, 2024
KCNA11Jan 15, 2024
KCNA51Jan 25, 2024
KCNQ23Jan 24, 2024
KDM6A4Jan 25, 2024
KMT2A3Jan 25, 2024
KMT2D12Jan 25, 2024
KRAS1Nov 13, 2023
LACC11Jan 25, 2024
LCK1Nov 13, 2023
LCP210Jan 25, 2024
LIG126Jan 25, 2024
LIG41Nov 13, 2023
LOC10272405810Jan 15, 2024
LOC1060293122Jan 25, 2024
LOC1073033431Jan 25, 2024
LOC1092865631Jan 25, 2024
LOC1096106311Jan 24, 2024
LOC1125336721Nov 13, 2023
LOC1218159642Nov 13, 2023
LOC1218327951Jan 25, 2024
LOC1220567941Jan 25, 2024
LOC1268056121Jan 25, 2024
LOC1268057171Nov 13, 2023
LOC1268058742Jan 25, 2024
LOC1268059051Nov 13, 2023
LOC1268060631Nov 13, 2023
LOC1268062111Jan 25, 2024
LOC1268074582Jan 25, 2024
LOC1268075085Jan 25, 2024
LOC1268598071Nov 13, 2023
LOC1268605522Jan 25, 2024
LOC1268615201Jan 25, 2024
LOC1268620651Jan 25, 2024
LOC1268622643Nov 13, 2023
LOC1268625751Nov 13, 2023
LOC1268626623Nov 13, 2023
LOC1268632531Jan 25, 2024
LOC1278934502Jan 25, 2024
LOC1287722551Nov 13, 2023
LOC1299302921Jan 25, 2024
LOC1299306691Jan 25, 2024
LOC1299315121Nov 13, 2023
LOC1299318511Nov 13, 2023
LOC1299326722Jan 25, 2024
LOC1299328101Jan 25, 2024
LOC1299328121Jan 25, 2024
LOC1299337071Jan 25, 2024
LOC1299337081Jan 25, 2024
LOC1299356911Jan 25, 2024
LOC1299357481Jan 25, 2024
LOC1299361441Jan 25, 2024
LOC1299922462Jan 25, 2024
LOC1299934101Jan 25, 2024
LOC1299951451Jan 25, 2024
LOC1300002991Jan 25, 2024
LOC1300014352Nov 13, 2023
LOC1300016281Nov 15, 2023
LOC1300030021Jan 25, 2024
LOC1300040251Jan 25, 2024
LOC1300042931Jan 25, 2024
LOC1300042942Jan 25, 2024
LOC1300045991Nov 13, 2023
LOC1300072321Nov 13, 2023
LOC1300072431Nov 6, 2023
LOC1300098101Jan 25, 2024
LOC1300554951Nov 13, 2023
LOC1300567501Jan 25, 2024
LOC1300568001Nov 13, 2023
LOC1300579071Jan 25, 2024
LOC1300579081Jan 25, 2024
LOC1300583521Jan 25, 2024
LOC1300584801Jan 25, 2024
LOC1300598941Jan 25, 2024
LOC1300602381Jan 25, 2024
LOC1300617841Jan 25, 2024
LOC1300617931Jan 25, 2024
LOC1300633171Nov 13, 2023
LOC1300639601Jan 25, 2024
LOC1300639721Jan 25, 2024
LOC1300656941Jan 25, 2024
LOC1300665581Nov 13, 2023
LOC1300668931Jan 25, 2024
LOC1300668942Jan 25, 2024
LOC1300673552Jan 25, 2024
LOC1300684961Jan 25, 2024
LPIN27Jan 25, 2024
LRBA17Jan 25, 2024
LSM111Jan 25, 2024
LYST19Jan 25, 2024
MALT11Jan 25, 2024
MAN2B218Jan 25, 2024
MAP1LC3B22Jan 25, 2024
MAP3K143Nov 13, 2023
MAP3K14-AS12Nov 13, 2023
MAPK86Jan 25, 2024
MCM1013Jan 25, 2024
MCM41Nov 13, 2023
MECP21Dec 4, 2023
MEFV17Jan 25, 2024
MFSD82Aug 28, 2022
MIR68261Jan 25, 2024
MSH615Jan 25, 2024
MT-CYB1Jan 17, 2024
MVK10Jan 25, 2024
NBN11Jan 25, 2024
NCF12Jan 25, 2024
NCF23Jan 25, 2024
NCF48Jan 25, 2024
NCF4-AS11Jan 25, 2024
NCKAP1L7Jan 25, 2024
NEIL313Jan 25, 2024
NFAT56Jan 25, 2024
NFKB16Jan 25, 2024
NFKB28Jan 25, 2024
NFKBIA9Jan 25, 2024
NHEJ16Nov 13, 2023
NLRC48Nov 13, 2023
NLRP111Nov 15, 2023
NLRP1211Jan 25, 2024
NLRP328Jan 25, 2024
NME13Jan 25, 2024
NME1-NME23Jan 25, 2024
NOD210Jan 25, 2024
NOP106Jan 25, 2024
NOS212Jan 25, 2024
NPRL31Jan 15, 2024
NRAS1Nov 13, 2023
OAS17Jan 25, 2024
ORAI12Jan 25, 2024
OTULIN4Jan 25, 2024
PARN4Jan 25, 2024
PCDH192Jan 15, 2024
PDCD15Jan 25, 2024
PDHA11Mar 15, 2024
PEPD5Nov 13, 2023
PFAS1Jan 25, 2024
PGM110Jan 25, 2024
PI4KA16Jan 25, 2024
PIGA1Jan 15, 2024
PIK3CD7Jan 25, 2024
PIK3CG5Jan 25, 2024
PIK3R111Jan 25, 2024
PLA2G62Jun 13, 2022
PLCG244Jan 25, 2024
PNP5Jan 25, 2024
POLA12Jan 25, 2024
POLD110Jan 25, 2024
POLG1Jun 11, 2024
POLGARF1Jun 11, 2024
POLR3A4Jan 25, 2024
POLR3C1Jan 25, 2024
POLR3F8Jan 25, 2024
POMP2Jan 25, 2024
POU2AF19Jan 25, 2024
PPP3CA1Jan 15, 2024
PRF16Jan 25, 2024
PRKCD35Jan 25, 2024
PRKDC8Jan 25, 2024
PSMA32Nov 13, 2023
PSMA3-AS11Nov 13, 2023
PSMB44Nov 13, 2023
PSMB84Nov 15, 2023
PSMB95Nov 15, 2023
PSMG23Jan 25, 2024
PSTPIP19Jan 25, 2024
PTEN8Jan 25, 2024
RAB27A2Nov 13, 2023
RAC26Jan 25, 2024
RAG12Jan 25, 2024
RASGRP16Jan 25, 2024
RB19Sep 11, 2020
RBCK19Jan 25, 2024
REL2Jan 25, 2024
RELA2Jan 25, 2024
RELB2Nov 13, 2023
RFXANK2Jan 25, 2024
RGS101Jan 25, 2024
RIGI21Jan 25, 2024
RIPK12Jan 25, 2024
RNASEH2A4Nov 13, 2023
RNASEH2B5Jan 25, 2024
RNASEH2B-AS11Jan 25, 2024
RNF313Jan 25, 2024
RNU7-11Jan 25, 2024
RORC17Jan 25, 2024
RPA17Jan 25, 2024
RTEL114Jan 25, 2024
RTEL1-TNFRSF6B14Jan 25, 2024
RUNX33Jan 25, 2024
RUNX3-AS11Jan 25, 2024
RUVBL12Jan 25, 2024
SAMD92Jan 25, 2024
SAMHD12Nov 13, 2023
SASH32Jan 25, 2024
SCN1A17Jan 15, 2024
SCN1B2Jan 15, 2024
SCN2A2Aug 28, 2022
SCN8A3Jan 24, 2024
SEC61A16Jan 25, 2024
SGCE1Jan 15, 2024
SGSH9Nov 13, 2023
SH3BP27Nov 13, 2023
SLC12A51Jan 15, 2024
SLC29A315Jan 25, 2024
SLC2A14Mar 14, 2023
SLC7A78Jan 25, 2024
SMARCAL15Jan 25, 2024
SMC1A1Jan 15, 2024
SOCS11Jan 25, 2024
SP1109Jan 25, 2024
SP1407Jan 25, 2024
SPI15Jan 25, 2024
SPINK549Jan 25, 2024
SPPL2A5Jan 25, 2024
STAT19Jan 25, 2024
STAT21Jan 25, 2024
STAT34Nov 13, 2023
STIM16Jan 25, 2024
STING18Jan 25, 2024
STK47Jan 25, 2024
STX1B1Mar 21, 2022
STXBP12Jan 24, 2024
STXBP225Jan 25, 2024
SUV39H22Jan 25, 2024
SYK16Jan 25, 2024
SYNGAP12Jan 15, 2024
SYNGAP1-AS12Jan 15, 2024
TBK15Jan 25, 2024
TBX212Jan 25, 2024
TCF38Jan 25, 2024
TERC1Jan 25, 2024
TERT3Jan 25, 2024
TET24Jan 25, 2024
TET2-AS14Jan 25, 2024
TFRC16Nov 13, 2023
TGFB11Jan 25, 2024
TGFBR14Jan 25, 2024
TGFBR24Jan 25, 2024
TICAM13Jan 25, 2024
TINF21Jan 25, 2024
TIRAP9Jan 25, 2024
TK21Jan 17, 2024
TLR33Jan 25, 2024
TLR71Jan 25, 2024
TLR85Jan 25, 2024
TLR8-AS15Jan 25, 2024
TMC618Jan 25, 2024
TMC814Jan 25, 2024
TMEM50B4Jan 25, 2024
TNFAIP34Nov 13, 2023
TNFRSF13B5Jan 25, 2024
TNFRSF1A4Nov 13, 2023
TNFRSF94Jan 25, 2024
TNFSF124Jan 25, 2024
TNFSF12-TNFSF137Jan 25, 2024
TNFSF133Jan 25, 2024
TOM16Jan 25, 2024
TOP2B7Jan 25, 2024
TP532Jan 25, 2024
TPP11Jun 12, 2020
TPP224Jan 25, 2024
TRAF35Jan 25, 2024
TRAF3IP24Jan 25, 2024
TRAF3IP2-AS14Jan 25, 2024
TRAP17Jan 25, 2024
TREX11Nov 13, 2023
TRIM229Jan 25, 2024
TRNT110Jan 25, 2024
TTC36-AS11Jan 25, 2024
TTC7A23Jan 25, 2024
TYK210Jan 25, 2024
UBA14Jan 25, 2024
UBE3A3Mar 15, 2024
UGDH1Jan 24, 2024
UNC13D18Jan 25, 2024
UNC93B14Jan 25, 2024
UNG1Jan 25, 2024
USP184Jan 25, 2024
WDR112Jan 25, 2024
WIPF15Jan 25, 2024
WRAP533Jan 25, 2024
WWOX2Mar 15, 2024
XIAP2Nov 13, 2023
ZAP709Jan 25, 2024
ZNF3414Jan 25, 2024
ZNF341-AS12Nov 13, 2023
ZNF518A1Jan 25, 2024
ZNF6273Jan 25, 2024
ZNFX110Jan 25, 2024

Condition

NameSubmissionsLast Updated
15q11q13 microduplication syndrome3Mar 15, 2024
Aicardi-Goutieres syndrome 61Jun 11, 2024
Alternating hemiplegia of childhood1Aug 28, 2022
Autosomal dominant nocturnal frontal lobe epilepsy1Jun 9, 2022
Continuous spike and waves during slow sleep1Aug 28, 2022
Developmental and epileptic encephalopathy, 17Dec 2, 2022
Developmental and epileptic encephalopathy, 41Dec 4, 2023
Developmental and epileptic encephalopathy, 71Apr 19, 2022
Dystonia 91Feb 22, 2023
Dystonic disorder2Jan 15, 2024
Encephalopathy due to GLUT1 deficiency1Mar 14, 2023
Epilepsy1Jan 15, 2024
Epilepsy of infancy with migrating focal seizures2Sep 27, 2022
Epileptic encephalopathy16Jan 15, 2024
Focal epilepsy1Jan 15, 2024
Growth delay due to insulin-like growth factor type 1 deficiency1May 10, 2024
Infantile neuroaxonal dystrophy2Jun 13, 2022
Intellectual disability, autosomal dominant 81Dec 7, 2022
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Jan 17, 2024
Lennox-Gastaut syndrome2Aug 28, 2022
Malignant migrating partial seizures of infancy1Aug 28, 2022
Mitchell syndrome1Jun 12, 2024
Mitochondrial DNA depletion syndrome 4b1Jun 11, 2024
Mitochondrial DNA depletion syndrome, myopathic form1Jan 17, 2024
Movement disorder3Jan 15, 2024
Myoclonic-astatic epilepsy1Aug 28, 2022
Neuronal ceroid lipofuscinosis 21Jun 12, 2020
Neuronal ceroid lipofuscinosis 51Aug 28, 2022
Neuronal ceroid lipofuscinosis 72Aug 28, 2022
Progressive sclerosing poliodystrophy1Jun 11, 2024
Pyruvate dehydrogenase E1-alpha deficiency1Mar 15, 2024
Retinoblastoma9Sep 11, 2020
Rett syndrome1Dec 4, 2023
SYNGAP1-related developmental and epileptic encephalopathy2Jan 15, 2024
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Jun 11, 2024
Severe myoclonic epilepsy in infancy14Jan 15, 2024
West syndrome11Mar 15, 2024
not specified2300Jan 25, 2024