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Clinical Genetics and Genomics (Karolinska University Hospital), KLINGEN-KUS

General information

Clinical Genetics and Genomics, KLINGEN-KUS
Karolinska University Hospital
L5:03, Karolinska Universitetslaboratoriet
Solna
Stockholms Lan
Sweden - 17176
http://www.karolinska.se/genetik
Organization ID: 505315

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 949

Gene

GeneSubmissionsLast Updated
AARS11Nov 26, 2020
ACTA21Nov 26, 2020
ACTA2-AS11Nov 26, 2020
ACTB1Nov 26, 2020
ADAMTSL41Nov 26, 2020
ADAMTSL4-AS21Nov 26, 2020
ADNP1Nov 26, 2020
ADSL1Nov 26, 2020
AFG3L21Nov 26, 2020
ALG121Nov 26, 2020
ALG32Nov 26, 2020
ALG91Nov 26, 2014
ANK32Nov 26, 2020
ANKRD113Apr 24, 2024
ANO102Nov 26, 2020
APC24Nov 26, 2020
AR22Nov 26, 2020
ARID1B9Nov 26, 2020
ARID21Nov 26, 2020
ASAH11Nov 26, 2020
ASPM1Nov 26, 2020
ASXL32Nov 26, 2020
ATM2Nov 26, 2020
ATP1A31Nov 26, 2020
ATP2A21Nov 26, 2020
B9D11Nov 26, 2020
BBS91Nov 26, 2020
BLOC1S1-RDH51May 28, 2024
BMPER3Nov 26, 2020
BMPR1A2Nov 26, 2020
BMPR1B1Nov 26, 2020
BRAF2Nov 26, 2020
BRAT12Nov 26, 2020
BRCA160Nov 26, 2020
BRCA282Nov 26, 2020
BTK7Nov 26, 2020
C11orf651Nov 26, 2020
CACNA1E1Nov 26, 2020
CAPN13Nov 26, 2020
CAPN33Nov 26, 2020
CASR3Apr 24, 2024
CD631May 28, 2024
CDC732Nov 26, 2020
CDH13Nov 26, 2020
CDKL52Nov 26, 2020
CDKN1C3Nov 26, 2020
CEBPA17Nov 26, 2020
CEP832Nov 26, 2020
CFTR23Jan 29, 2024
CFTR-AS15Nov 26, 2020
CHD77Nov 26, 2020
CHEK24Nov 26, 2020
CHRNG1Nov 26, 2020
CLCN11Nov 26, 2020
CLN51Nov 26, 2020
CNGB32Apr 24, 2024
COG41Nov 26, 2020
COL10A11Nov 26, 2020
COL1A13Nov 26, 2020
COL1A24Nov 26, 2020
COL2A110Jan 26, 2024
COL3A12Nov 26, 2020
COL5A11Nov 26, 2020
COL6A21Nov 26, 2020
COL6A32Nov 26, 2020
COL9A22Nov 26, 2020
COMP2Nov 26, 2020
CREBBP2Apr 24, 2024
CRTAP2Nov 26, 2020
CSF3R7Nov 26, 2020
CSNK2A12Nov 26, 2020
CTCF2Nov 26, 2020
CTNNB11Nov 26, 2020
CXCR41Nov 26, 2020
CYP11A11Nov 26, 2020
CYP11B11Nov 26, 2020
CYP21A228Nov 26, 2020
CYP2U11Nov 26, 2020
CYP7B11Nov 26, 2020
DCC1Nov 26, 2020
DDX3X2Nov 26, 2020
DEAF11Nov 26, 2020
DLG31Nov 26, 2020
DNAAF41Nov 26, 2020
DNAAF4-CCPG11Nov 26, 2020
DNAJC31Nov 26, 2020
DNMT3A2Apr 24, 2024
DOK71Nov 26, 2020
DVL31Nov 26, 2020
DYNC1H11Nov 26, 2020
DYNC2H112Nov 26, 2020
DYRK1A1Nov 26, 2020
DYSF1Oct 19, 2017
EBP1Nov 26, 2020
EFTUD22Nov 26, 2020
EIF2S31Nov 26, 2020
ELANE5Nov 26, 2020
ELN1Nov 26, 2020
ELP42Nov 26, 2020
EXOSC31Nov 26, 2020
EXT14Nov 26, 2020
EXT21Apr 24, 2024
FAM111A1Nov 26, 2020
FBLN51Apr 24, 2024
FBN123May 28, 2024
FBXL31Nov 26, 2020
FGFR11Nov 26, 2020
FGFR312Nov 26, 2020
FKRP1Nov 26, 2020
FLCN12Nov 26, 2020
FLNA1Nov 26, 2020
FLNB1Apr 24, 2024
FOXF13Nov 26, 2020
FOXP11Nov 26, 2020
FSHR1Nov 26, 2020
GABRA11May 28, 2024
GALC10Nov 26, 2020
GATAD2B1Nov 26, 2020
GDAP11Nov 26, 2020
GFPT11Nov 26, 2020
GJB27Nov 26, 2020
GLA2Nov 26, 2020
GNAI31Nov 26, 2020
GNAS4Nov 26, 2020
GNB11Apr 24, 2024
GNPTG2Feb 2, 2023
GPC31Nov 26, 2020
GREB1L1Nov 26, 2020
GRIA11Nov 26, 2020
GRIN2A1Apr 24, 2024
GRIN2B3Nov 26, 2020
HAX12Nov 26, 2020
HBB22Nov 26, 2020
HDAC81Nov 26, 2020
HIF1A1Nov 26, 2020
HIF1A-AS31Nov 26, 2020
HNRNPU2Nov 26, 2020
HUWE11Nov 26, 2020
IDH12Nov 26, 2020
IFITM51Nov 26, 2020
IFT431Nov 26, 2020
IHH1Nov 26, 2020
IL6ST1Nov 26, 2020
INPPL11Jan 26, 2024
IQSEC21Nov 26, 2020
KANSL11Nov 26, 2020
KAT6A1Dec 18, 2014
KIAA07532Nov 26, 2020
KIF1A1Nov 26, 2020
KIF221Nov 26, 2020
KIF71Nov 26, 2020
KIT4Nov 26, 2020
KMT2A6Nov 26, 2020
KMT2D4Nov 26, 2020
KMT5B1Nov 26, 2020
LAMA22Nov 26, 2020
LBR1Jan 26, 2024
LIG41Mar 26, 2024
LIPA1Nov 26, 2020
LMNA2Nov 26, 2020
LMX1B1Nov 26, 2020
LOC10609906219Nov 26, 2020
LOC10678080028Nov 26, 2020
LOC1067998331Nov 26, 2020
LOC10713351022Nov 26, 2020
LOC1073033403Nov 26, 2020
LOC1095047251Nov 26, 2020
LOC1100063193Nov 26, 2020
LOC1116744722Nov 26, 2020
LOC1116744771Jan 29, 2024
LOC1136641061Nov 26, 2020
LOC1268068781Nov 26, 2020
LOC1268612361Nov 26, 2020
LOC1268615201Nov 26, 2020
LOC1268622648Nov 26, 2020
LOC12686257114Nov 26, 2020
LOC1293891441Nov 26, 2020
LOC1299925851Nov 26, 2020
LOC1300057401Nov 26, 2020
LOX1Nov 26, 2020
LOXHD11Nov 26, 2020
LRP51Nov 26, 2020
LTBP31Nov 26, 2020
MAMLD11Nov 26, 2020
MAN1B11Nov 26, 2020
MAP3K11Nov 26, 2020
MATN31Nov 26, 2020
MCFD21Nov 26, 2020
MCM21Nov 26, 2020
MECP28Nov 26, 2020
MEFV18Jan 29, 2024
MEGF101Nov 26, 2020
MEN129Nov 26, 2020
MLH116Nov 26, 2020
MME1Nov 26, 2020
MSH220Nov 26, 2020
MSH616Nov 26, 2020
MTMR21Nov 26, 2020
MUTYH7Nov 26, 2020
MYL21Nov 26, 2020
MYO7A1Nov 26, 2020
MYT1L1Nov 26, 2020
NEFH1Nov 26, 2020
NF11Apr 24, 2024
NIPBL4Nov 26, 2020
NKAP1Apr 24, 2024
NPC11Nov 26, 2020
NQO11Nov 26, 2020
NR5A13Nov 26, 2020
NT5DC11Nov 26, 2020
OFD11Nov 26, 2020
OPTN1Nov 26, 2020
PACS11Nov 26, 2020
PALB26Nov 26, 2020
PAPSS25Nov 26, 2020
PAX66Nov 26, 2020
PCARE1Nov 26, 2020
PDGFB1Nov 26, 2020
PGGHG1Nov 26, 2020
PHF61Nov 26, 2020
PHOX2B1Nov 26, 2020
PIK3CA1Nov 26, 2020
PLOD23Nov 26, 2020
PLS32Nov 26, 2020
PMS24Nov 26, 2020
PNKP2Nov 26, 2020
PNPT11Apr 24, 2024
POGLUT11Nov 26, 2020
POLG1Nov 26, 2020
POLGARF1Nov 26, 2020
POLR3A1Nov 26, 2020
POMGNT11Nov 26, 2020
POU3F43Nov 26, 2020
PPP2R1A1May 28, 2024
PRF12Nov 26, 2020
PRNP1Nov 26, 2020
PTEN5Apr 24, 2024
PTPN111Apr 24, 2024
PYGM2Nov 26, 2020
RAB3GAP22Nov 26, 2020
RAD51C1Nov 26, 2020
RARB1Nov 26, 2020
RDH51May 28, 2024
RERE1Nov 26, 2020
RET14Nov 26, 2020
RIT12Nov 26, 2020
RPL36A-HNRNPH22Nov 26, 2020
RUNX11Nov 26, 2020
RYR17Nov 26, 2020
RYR21Nov 26, 2020
SACS3Jan 29, 2024
SATB23Nov 26, 2020
SCN11A1Nov 26, 2020
SCN5A1Nov 26, 2020
SDHA1Nov 26, 2020
SEC24D2Nov 26, 2020
SETD52Nov 26, 2020
SGCA4Nov 26, 2020
SGCB3Nov 26, 2020
SGCG1Nov 26, 2020
SH3TC21Nov 26, 2020
SHANK32Nov 26, 2020
SHOX4Nov 26, 2020
SIN3A3Nov 26, 2020
SMAD41Nov 26, 2020
SMARCA21Nov 26, 2020
SMARCA41Nov 26, 2020
SMARCAL11Nov 26, 2020
SOX92Nov 26, 2020
SPATA71Nov 26, 2020
SPG72Nov 26, 2020
SRD5A28Nov 26, 2020
SRFBP11Nov 26, 2020
STK111Nov 26, 2020
STRC1Nov 26, 2020
STX112Nov 26, 2020
STXBP11Nov 26, 2020
SYNGAP13Nov 26, 2020
SYNGAP1-AS13Nov 26, 2020
SZT21Nov 26, 2020
TBCEL-TECTA1Nov 26, 2020
TBL1XR13Apr 24, 2024
TBL1XR1-AS12Nov 26, 2020
TBX51Nov 26, 2020
TCF121Nov 26, 2020
TCF44Nov 26, 2020
TECTA1Nov 26, 2020
TGFB32Nov 26, 2020
TGFBR11Nov 26, 2020
TGFBR21Jan 29, 2024
THAP11Oct 23, 2019
THOC61Nov 26, 2020
TIA11Nov 26, 2020
TMEM126B1Nov 26, 2020
TMEM2401Nov 26, 2020
TNNI21Nov 26, 2020
TNXB2Nov 26, 2020
TOR1A1Nov 26, 2020
TP537Nov 26, 2020
TRPS13Nov 26, 2020
TRPV44Nov 26, 2020
TSPAN11Nov 26, 2020
TSPEAR1Apr 24, 2024
TTC7A2Nov 26, 2020
TTN2Nov 26, 2020
TTN-AS12Nov 26, 2020
TTR3Nov 26, 2020
TUBB31Nov 26, 2020
TUBB4A1Nov 26, 2020
UNC13D2Nov 26, 2020
VHL3Nov 26, 2020
WAC1Nov 26, 2020
WDR621Nov 26, 2020
WRAP532Nov 26, 2020
XRCC41Nov 26, 2020
ZBTB183Nov 26, 2020
ZMPSTE241Nov 26, 2020
ZMYND111Nov 26, 2020

Condition

NameSubmissionsLast Updated
Achondrogenesis type II1Jan 26, 2024
Achromatopsia 32Apr 24, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B1Oct 19, 2017
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1Apr 24, 2024
Cowden syndrome 11Apr 24, 2024
DNA ligase IV deficiency1Mar 26, 2024
Developmental and epileptic encephalopathy, 191May 28, 2024
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis1Apr 24, 2024
Exostoses, multiple, type 21Apr 24, 2024
Familial hypocalciuric hypercalcemia 12Apr 24, 2024
Gillessen-Kaesbach-Nishimura dysplasia1Nov 26, 2014
Greenberg dysplasia1Jan 26, 2024
Houge-Janssens syndrome 21May 28, 2024
Hypertelorism1Mar 29, 2018
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1Apr 24, 2024
Intellectual disability, autosomal dominant 411Apr 24, 2024
Intellectual disability, autosomal dominant 421Apr 24, 2024
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Nov 26, 2014
KBG syndrome1Apr 24, 2024
Kniest dysplasia1Jan 26, 2024
Landau-Kleffner syndrome1Apr 24, 2024
Larsen syndrome1Apr 24, 2024
Macrocephaly-autism syndrome1Apr 24, 2024
Marfan syndrome1May 28, 2024
Menke-Hennekam syndrome 11Apr 24, 2024
Metachondromatosis1Apr 24, 2024
Neurofibromatosis, type 11Apr 24, 2024
Nystagmus1Mar 29, 2018
Opsismodysplasia1Jan 26, 2024
Pigmentary retinal dystrophy1May 28, 2024
Rienhoff syndrome1Oct 19, 2017
Rod-cone dystrophy2Feb 2, 2023
Spinocerebellar ataxia type 251Apr 24, 2024
Syndromic intellectual disability1Dec 18, 2014
Tatton-Brown-Rahman overgrowth syndrome1Apr 24, 2024
Torsion dystonia 61Oct 23, 2019
Visual impairment1Mar 29, 2018
alpha Thalassemia1Apr 24, 2024
not provided910Jan 29, 2024