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
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: anna.hammarsjo@ki.se - Kristina Lagerstedt-Robinson, Variant scientist/curator
Phone: +46 851770444
Email: kristina.lagerstedt-robinson@regionstockholm.se - Daniel Nilsson, Informatics staff
Phone: +46 762625675
Email: daniel.nilsson@ki.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 924
Gene
| 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 |
| ANK3 | 2 | Nov 26, 2020 |
| ANKRD11 | 2 | Nov 26, 2020 |
| 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 |
| 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 | 1 | Nov 26, 2020 |
| 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 |
| 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 |
| COG4 | 1 | Nov 26, 2020 |
| COL10A1 | 1 | Nov 26, 2020 |
| COL1A1 | 3 | Nov 26, 2020 |
| COL1A2 | 4 | Nov 26, 2020 |
| COL2A1 | 10 | Jan 26, 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 | 1 | Nov 26, 2020 |
| 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 |
| 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 |
| 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 | 1 | Nov 26, 2020 |
| 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 |
| FAM111A | 1 | Nov 26, 2020 |
| FBN1 | 22 | Jan 29, 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 |
| FOXF1 | 3 | Nov 26, 2020 |
| FOXP1 | 1 | Nov 26, 2020 |
| FSHR | 1 | Nov 26, 2020 |
| 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 |
| GNPTG | 2 | Feb 2, 2023 |
| GPC3 | 1 | Nov 26, 2020 |
| GREB1L | 1 | Nov 26, 2020 |
| GRIA1 | 1 | Nov 26, 2020 |
| 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 |
| HUWE1 | 1 | Nov 26, 2020 |
| IDH1 | 2 | Nov 26, 2020 |
| IFITM5 | 1 | Nov 26, 2020 |
| IFT43 | 1 | Nov 26, 2020 |
| 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 | Jan 26, 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 |
| 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, 2020 |
| MYO7A | 1 | Nov 26, 2020 |
| MYT1L | 1 | Nov 26, 2020 |
| NEFH | 1 | Nov 26, 2020 |
| NIPBL | 4 | Nov 26, 2020 |
| 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 | 3 | Nov 26, 2020 |
| PLS3 | 2 | Nov 26, 2020 |
| PMS2 | 4 | Nov 26, 2020 |
| PNKP | 2 | Nov 26, 2020 |
| 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 |
| POU3F4 | 3 | Nov 26, 2020 |
| PRF1 | 2 | Nov 26, 2020 |
| PRNP | 1 | Nov 26, 2020 |
| PTEN | 3 | Nov 26, 2020 |
| PYGM | 2 | Nov 26, 2020 |
| RAB3GAP2 | 2 | Nov 26, 2020 |
| RAD51C | 1 | Nov 26, 2020 |
| RARB | 1 | Nov 26, 2020 |
| 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 | 2 | Nov 26, 2020 |
| SETD5 | 2 | Nov 26, 2020 |
| 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 | 2 | Nov 26, 2020 |
| 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 |
| TBL1XR1 | 2 | Nov 26, 2020 |
| 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 |
| 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 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Achondrogenesis type II | 1 | Jan 26, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Oct 19, 2017 |
| DNA ligase IV deficiency | 1 | Mar 26, 2024 |
| Gillessen-Kaesbach-Nishimura dysplasia | 1 | Nov 26, 2014 |
| Greenberg dysplasia | 1 | Jan 26, 2024 |
| Hypertelorism | 1 | Mar 29, 2018 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Nov 26, 2014 |
| Kniest dysplasia | 1 | Jan 26, 2024 |
| Nystagmus | 1 | Mar 29, 2018 |
| Opsismodysplasia | 1 | Jan 26, 2024 |
| Rienhoff syndrome | 1 | Oct 19, 2017 |
| Rod-cone dystrophy | 2 | Feb 2, 2023 |
| Syndromic intellectual disability | 1 | Dec 18, 2014 |
| Torsion dystonia 6 | 1 | Oct 23, 2019 |
| Visual impairment | 1 | Mar 29, 2018 |
| not provided | 910 | Jan 29, 2024 |