Clinical Genetics and Genomics - Submitter

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

Anna Hammarsjo, Variant scientist/curator
Phone: +46 812370444
Email: [email protected]
Kristina Lagerstedt-Robinson, Variant scientist/curator
Phone: +46 851770444
Email: [email protected]
Daniel Nilsson, Informatics staff
Phone: +46 762625675
Email: [email protected]

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 969

Gene

Enter text to narrow down the list

Gene	Submissions	Last Updated
AARS1	1	Nov 26, 2020
ACTA2	1	Nov 26, 2020
ACTA2-AS1	1	Nov 26, 2020
ACTB	1	Nov 26, 2020
ADAMTSL4	1	Nov 26, 2020
ADAMTSL4-AS2	1	Nov 26, 2020
ADNP	1	Nov 26, 2020
ADSL	1	Nov 26, 2020
AFG3L2	1	Nov 26, 2020
ALG12	1	Nov 26, 2020
ALG3	2	Nov 26, 2020
ALG9	1	Nov 26, 2014
ALPL	2	Oct 16, 2024
ANK3	2	Nov 26, 2020
ANKRD11	3	Apr 24, 2024
ANO10	2	Nov 26, 2020
APC	24	Nov 26, 2020
AR	22	Nov 26, 2020
ARID1B	9	Nov 26, 2020
ARID2	1	Nov 26, 2020
ASAH1	1	Nov 26, 2020
ASPM	1	Nov 26, 2020
ASXL3	2	Nov 26, 2020
ATM	2	Nov 26, 2020
ATP1A3	1	Nov 26, 2020
ATP2A2	1	Nov 26, 2020
B9D1	1	Nov 26, 2020
BBS9	1	Nov 26, 2020
BLOC1S1-RDH5	1	May 28, 2024
BMPER	3	Nov 26, 2020
BMPR1A	2	Nov 26, 2020
BMPR1B	1	Nov 26, 2020
BRAF	2	Nov 26, 2020
BRAT1	2	Nov 26, 2020
BRCA1	60	Nov 26, 2020
BRCA2	82	Nov 26, 2020
BTK	7	Nov 26, 2020
C11orf65	1	Nov 26, 2020
CACNA1E	1	Nov 26, 2020
CAPN1	3	Nov 26, 2020
CAPN3	3	Nov 26, 2020
CASR	3	Apr 24, 2024
CD63	1	May 28, 2024
CDC73	2	Nov 26, 2020
CDH1	3	Nov 26, 2020
CDKL5	2	Nov 26, 2020
CDKN1C	3	Nov 26, 2020
CEBPA	17	Nov 26, 2020
CEP120	1	Oct 16, 2024
CEP290	2	Oct 16, 2024
CEP83	2	Nov 26, 2020
CFTR	23	Jan 29, 2024
CFTR-AS1	5	Nov 26, 2020
CHD7	7	Nov 26, 2020
CHEK2	4	Nov 26, 2020
CHRNG	1	Nov 26, 2020
CLCN1	1	Nov 26, 2020
CLN5	1	Nov 26, 2020
CNGB3	2	Apr 24, 2024
COG4	1	Nov 26, 2020
COL10A1	1	Nov 26, 2020
COL1A1	4	Oct 16, 2024
COL1A2	6	Oct 16, 2024
COL2A1	11	Oct 16, 2024
COL3A1	2	Nov 26, 2020
COL5A1	1	Nov 26, 2020
COL6A2	1	Nov 26, 2020
COL6A3	2	Nov 26, 2020
COL9A2	2	Nov 26, 2020
COMP	2	Nov 26, 2020
CREBBP	2	Apr 24, 2024
CRTAP	2	Nov 26, 2020
CSF3R	7	Nov 26, 2020
CSNK2A1	2	Nov 26, 2020
CTCF	2	Nov 26, 2020
CTNNB1	1	Nov 26, 2020
CUL3	1	Jul 22, 2024
CXCR4	1	Nov 26, 2020
CYP11A1	1	Nov 26, 2020
CYP11B1	1	Nov 26, 2020
CYP21A2	28	Nov 26, 2020
CYP2U1	1	Nov 26, 2020
CYP7B1	1	Nov 26, 2020
DCC	1	Nov 26, 2020
DCTN5	1	Nov 26, 2020
DDX3X	2	Nov 26, 2020
DEAF1	1	Nov 26, 2020
DLG3	1	Nov 26, 2020
DNAAF4	1	Nov 26, 2020
DNAAF4-CCPG1	1	Nov 26, 2020
DNAJC3	1	Nov 26, 2020
DNMT3A	2	Apr 24, 2024
DOK7	1	Nov 26, 2020
DVL3	1	Nov 26, 2020
DYNC1H1	1	Nov 26, 2020
DYNC2H1	12	Nov 26, 2020
DYRK1A	1	Nov 26, 2020
DYSF	1	Oct 19, 2017
EBP	1	Nov 26, 2020
EFTUD2	2	Nov 26, 2020
EIF2S3	1	Nov 26, 2020
ELANE	5	Nov 26, 2020
ELN	1	Nov 26, 2020
ELP4	2	Nov 26, 2020
EXOSC3	1	Nov 26, 2020
EXT1	4	Nov 26, 2020
EXT2	1	Apr 24, 2024
FAM111A	1	Nov 26, 2020
FBLN5	1	Apr 24, 2024
FBN1	23	May 28, 2024
FBXL3	1	Nov 26, 2020
FGFR1	1	Nov 26, 2020
FGFR3	12	Nov 26, 2020
FKRP	1	Nov 26, 2020
FLCN	12	Nov 26, 2020
FLNA	1	Nov 26, 2020
FLNB	1	Apr 24, 2024
FOXF1	3	Nov 26, 2020
FOXP1	1	Nov 26, 2020
FSHR	1	Nov 26, 2020
GABRA1	1	May 28, 2024
GALC	10	Nov 26, 2020
GATAD2B	1	Nov 26, 2020
GDAP1	1	Nov 26, 2020
GFPT1	1	Nov 26, 2020
GJB2	7	Nov 26, 2020
GLA	2	Nov 26, 2020
GNAI3	1	Nov 26, 2020
GNAS	4	Nov 26, 2020
GNB1	1	Apr 24, 2024
GNPTG	2	Feb 2, 2023
GPC3	1	Nov 26, 2020
GREB1L	1	Nov 26, 2020
GRIA1	1	Nov 26, 2020
GRIN2A	1	Apr 24, 2024
GRIN2B	3	Nov 26, 2020
HAX1	2	Nov 26, 2020
HBB	22	Nov 26, 2020
HDAC8	1	Nov 26, 2020
HIF1A	1	Nov 26, 2020
HIF1A-AS3	1	Nov 26, 2020
HNRNPU	2	Nov 26, 2020
HRAS	1	Jul 22, 2024
HUWE1	1	Nov 26, 2020
IDH1	2	Nov 26, 2020
IFITM5	2	Oct 16, 2024
IFT43	1	Nov 26, 2020
IGHMBP2	1	Jul 22, 2024
IHH	1	Nov 26, 2020
IL6ST	1	Nov 26, 2020
INPPL1	1	Jan 26, 2024
IQSEC2	1	Nov 26, 2020
KANSL1	1	Nov 26, 2020
KAT6A	1	Dec 18, 2014
KIAA0753	2	Nov 26, 2020
KIF1A	1	Nov 26, 2020
KIF22	1	Nov 26, 2020
KIF7	1	Nov 26, 2020
KIT	4	Nov 26, 2020
KMT2A	6	Nov 26, 2020
KMT2D	4	Nov 26, 2020
KMT5B	1	Nov 26, 2020
LAMA2	2	Nov 26, 2020
LBR	1	Sep 13, 2024
LIG4	1	Mar 26, 2024
LIPA	1	Nov 26, 2020
LMNA	2	Nov 26, 2020
LMX1B	1	Nov 26, 2020
LOC106099062	19	Nov 26, 2020
LOC106780800	28	Nov 26, 2020
LOC106799833	1	Nov 26, 2020
LOC107133510	22	Nov 26, 2020
LOC107303340	3	Nov 26, 2020
LOC109504725	1	Nov 26, 2020
LOC110006319	3	Nov 26, 2020
LOC111674472	2	Nov 26, 2020
LOC111674477	1	Jan 29, 2024
LOC113664106	1	Nov 26, 2020
LOC126806878	1	Nov 26, 2020
LOC126861236	1	Nov 26, 2020
LOC126861520	1	Nov 26, 2020
LOC126862264	8	Nov 26, 2020
LOC126862571	14	Nov 26, 2020
LOC129389144	1	Nov 26, 2020
LOC129992585	1	Nov 26, 2020
LOC130005740	1	Nov 26, 2020
LOX	1	Nov 26, 2020
LOXHD1	1	Nov 26, 2020
LRP5	1	Nov 26, 2020
LRRC56	1	Jul 22, 2024
LTBP3	1	Nov 26, 2020
MAMLD1	1	Nov 26, 2020
MAN1B1	1	Nov 26, 2020
MAP3K1	1	Nov 26, 2020
MATN3	1	Nov 26, 2020
MCFD2	1	Nov 26, 2020
MCM2	1	Nov 26, 2020
MECP2	8	Nov 26, 2020
MEFV	18	Jan 29, 2024
MEGF10	1	Nov 26, 2020
MEN1	29	Nov 26, 2020
MLH1	16	Nov 26, 2020
MME	1	Nov 26, 2020
MSH2	20	Nov 26, 2020
MSH6	16	Nov 26, 2020
MTMR2	1	Nov 26, 2020
MUTYH	7	Nov 26, 2020
MYL2	1	Nov 26, 2024
MYO7A	1	Nov 26, 2020
MYT1L	1	Nov 26, 2020
NEFH	1	Nov 26, 2020
NF1	1	Apr 24, 2024
NIPBL	4	Nov 26, 2020
NKAP	1	Apr 24, 2024
NPC1	1	Nov 26, 2020
NQO1	1	Nov 26, 2020
NR5A1	3	Nov 26, 2020
NT5DC1	1	Nov 26, 2020
OFD1	1	Nov 26, 2020
OPTN	1	Nov 26, 2020
PACS1	1	Nov 26, 2020
PALB2	6	Nov 26, 2020
PAPSS2	5	Nov 26, 2020
PAX6	6	Nov 26, 2020
PCARE	1	Nov 26, 2020
PDGFB	1	Nov 26, 2020
PGGHG	1	Nov 26, 2020
PHF6	1	Nov 26, 2020
PHOX2B	1	Nov 26, 2020
PIK3CA	1	Nov 26, 2020
PLOD2	4	Oct 16, 2024
PLS3	2	Nov 26, 2020
PMS2	4	Nov 26, 2020
PNKP	2	Nov 26, 2020
PNPT1	1	Apr 24, 2024
POGLUT1	1	Nov 26, 2020
POLG	1	Nov 26, 2020
POLGARF	1	Nov 26, 2020
POLR3A	1	Nov 26, 2020
POMGNT1	1	Nov 26, 2020
PORCN	1	Oct 16, 2024
POU3F4	3	Nov 26, 2020
PPP2R1A	1	May 28, 2024
PRF1	2	Nov 26, 2020
PRNP	1	Nov 26, 2020
PTEN	5	Apr 24, 2024
PTPN11	1	Apr 24, 2024
PYGM	2	Nov 26, 2020
RAB3GAP2	2	Nov 26, 2020
RAD51C	1	Nov 26, 2020
RARB	1	Nov 26, 2020
RDH5	1	May 28, 2024
RERE	1	Nov 26, 2020
RET	14	Nov 26, 2020
RIT1	2	Nov 26, 2020
RPL36A-HNRNPH2	2	Nov 26, 2020
RUNX1	1	Nov 26, 2020
RYR1	7	Nov 26, 2020
RYR2	1	Nov 26, 2020
SACS	3	Jan 29, 2024
SATB2	3	Nov 26, 2020
SCN11A	1	Nov 26, 2020
SCN5A	1	Nov 26, 2020
SDHA	1	Nov 26, 2020
SEC24D	3	Oct 16, 2024
SETD5	2	Nov 26, 2020
SF3B4	1	Oct 16, 2024
SGCA	4	Nov 26, 2020
SGCB	3	Nov 26, 2020
SGCG	1	Nov 26, 2020
SH3TC2	1	Nov 26, 2020
SHANK3	2	Nov 26, 2020
SHOX	4	Nov 26, 2020
SIN3A	3	Nov 26, 2020
SMAD4	1	Nov 26, 2020
SMARCA2	1	Nov 26, 2020
SMARCA4	1	Nov 26, 2020
SMARCAL1	1	Nov 26, 2020
SOX9	3	Oct 16, 2024
SPATA7	1	Nov 26, 2020
SPG7	2	Nov 26, 2020
SRD5A2	8	Nov 26, 2020
SRFBP1	1	Nov 26, 2020
STK11	1	Nov 26, 2020
STRC	1	Nov 26, 2020
STX11	2	Nov 26, 2020
STXBP1	1	Nov 26, 2020
SYNGAP1	3	Nov 26, 2020
SYNGAP1-AS1	3	Nov 26, 2020
SZT2	1	Nov 26, 2020
TBCEL-TECTA	1	Nov 26, 2020
TBCK	2	Jul 22, 2024
TBL1XR1	3	Apr 24, 2024
TBL1XR1-AS1	2	Nov 26, 2020
TBX5	1	Nov 26, 2020
TCF12	1	Nov 26, 2020
TCF4	4	Nov 26, 2020
TECTA	1	Nov 26, 2020
TGFB3	2	Nov 26, 2020
TGFBR1	1	Nov 26, 2020
TGFBR2	1	Jan 29, 2024
THAP1	1	Oct 23, 2019
THOC6	1	Nov 26, 2020
TIA1	1	Nov 26, 2020
TMEM126B	1	Nov 26, 2020
TMEM240	1	Nov 26, 2020
TNNI2	1	Nov 26, 2020
TNXB	2	Nov 26, 2020
TOR1A	1	Nov 26, 2020
TP53	7	Nov 26, 2020
TRPS1	3	Nov 26, 2020
TRPV4	4	Nov 26, 2020
TSPAN1	1	Nov 26, 2020
TSPEAR	1	Apr 24, 2024
TTC7A	2	Nov 26, 2020
TTN	2	Nov 26, 2020
TTN-AS1	2	Nov 26, 2020
TTR	3	Nov 26, 2020
TUBB3	1	Nov 26, 2020
TUBB4A	1	Nov 26, 2020
UNC13D	2	Nov 26, 2020
VHL	3	Nov 26, 2020
WAC	1	Nov 26, 2020
WDR62	1	Nov 26, 2020
WRAP53	2	Nov 26, 2020
XRCC4	1	Nov 26, 2020
ZBTB18	3	Nov 26, 2020
ZMPSTE24	1	Nov 26, 2020
ZMYND11	1	Nov 26, 2020

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