Institute for Genomic Statistics and Bioinformatics (University Hospital Bonn), IGSB
General information
Institute for Genomic Statistics and Bioinformatics, IGSB
University Hospital Bonn
Venusberg, Campus 1
Bonn
Nordrhein-Westfalen
Germany - 53127
https://www.ukbonn.de
Organization ID: 507028
University Hospital Bonn
Venusberg, Campus 1
Bonn
Nordrhein-Westfalen
Germany - 53127
https://www.ukbonn.de
Organization ID: 507028
Personnel
- Alexej Knaus, Coordinator
Phone: +4922828714533
Email: knausa@uni-bonn.de - Peter Krawitz, Lab Director
Phone: +4922828714799
Email: pkrawitz@uni-bonn.de - Jean-Tori Pantel, Staff
Phone: 022828714533
Email: jtpantel@uni-bonn.de - Stanislav Rosnev, Staff
Phone: +4922828714533
Email: stanisalv.rosnev@charite.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 197
Gene
Gene | Submissions | Last Updated |
---|---|---|
AGXT | 1 | Mar 14, 2022 |
ALDH18A1 | 1 | Jun 2, 2019 |
ANKRD11 | 5 | Jun 2, 2019 |
ARID1A | 3 | Jul 9, 2021 |
ARID1B | 6 | Jul 12, 2020 |
ASPM | 5 | Jun 2, 2019 |
ASXL1 | 2 | Jun 2, 2019 |
ASXL3 | 1 | Oct 9, 2020 |
ATM | 2 | Jun 17, 2020 |
ATRX | 2 | Jun 7, 2019 |
BICRA | 1 | Dec 2, 2022 |
BRAF | 5 | Jun 2, 2019 |
C11orf65 | 1 | Jun 17, 2020 |
CACNA1A | 1 | Nov 9, 2020 |
CAMK2B | 1 | Nov 7, 2020 |
CBL | 1 | Jun 2, 2019 |
CENPJ | 1 | Jun 2, 2019 |
CHD7 | 4 | Jun 2, 2019 |
CHRNE | 1 | Jun 17, 2020 |
CHST3 | 1 | Jun 2, 2019 |
CLCN4 | 1 | Nov 6, 2020 |
CLTC | 1 | Nov 30, 2020 |
COL11A1 | 1 | Jun 2, 2019 |
COL11A2 | 1 | Jun 2, 2019 |
COL2A1 | 2 | Jun 2, 2019 |
CREBBP | 2 | Jun 2, 2019 |
CSPP1 | 1 | Jun 17, 2020 |
CTNND1 | 1 | Oct 21, 2020 |
DDX3X | 3 | Apr 24, 2020 |
DEPDC5 | 1 | Nov 6, 2020 |
DHCR7 | 2 | Jun 2, 2019 |
DNMT3A | 1 | Dec 2, 2022 |
DVL3 | 1 | Jun 2, 2019 |
DYRK1A | 2 | Jun 3, 2020 |
EFTUD2 | 1 | Jun 2, 2019 |
EHMT1 | 3 | Oct 9, 2020 |
EP300 | 3 | Jul 9, 2020 |
ERCC4 | 4 | Mar 14, 2022 |
ERCC8 | 1 | Jul 24, 2020 |
FBXO11 | 1 | Nov 7, 2020 |
FGD1 | 2 | Jun 2, 2019 |
FGFR2 | 3 | Jun 2, 2019 |
FGFR3 | 1 | Jun 2, 2019 |
FLNB | 1 | Jun 2, 2019 |
FOXC1 | 1 | Jun 4, 2020 |
FOXG1 | 1 | Jun 3, 2020 |
FRMPD4 | 1 | May 17, 2021 |
GATAD2B | 1 | Oct 9, 2020 |
GLI3 | 1 | Jun 2, 2019 |
GRIN1 | 1 | Nov 29, 2020 |
GRIN2B | 1 | Jun 3, 2020 |
HDAC8 | 2 | Jun 2, 2019 |
HEXA | 2 | Jun 17, 2020 |
HNRNPH2 | 1 | Oct 9, 2020 |
HUWE1 | 1 | Mar 14, 2022 |
IRAK1BP1 | 1 | Feb 27, 2021 |
KANSL1 | 1 | Oct 9, 2020 |
KAT6B | 1 | Nov 7, 2020 |
KIF7 | 1 | Jun 2, 2019 |
KMT2A | 2 | Jun 2, 2019 |
KMT2D | 6 | Jun 4, 2020 |
KMT5B | 1 | Dec 2, 2022 |
KRAS | 1 | Jun 2, 2019 |
L2HGDH | 1 | Feb 27, 2021 |
LAMA1 | 2 | Nov 6, 2020 |
LEMD2 | 1 | Jun 11, 2020 |
LMNA | 1 | Jun 4, 2020 |
LOC126863158 | 1 | Jun 2, 2019 |
LZTR1 | 1 | Nov 7, 2020 |
MAN2B2 | 1 | Dec 2, 2022 |
MECP2 | 3 | Jun 2, 2019 |
MED13 | 1 | Jul 6, 2021 |
NAA15 | 2 | Mar 14, 2022 |
NF1 | 1 | Jun 2, 2019 |
NIPBL | 1 | Dec 13, 2021 |
NOTCH3 | 1 | Jun 2, 2019 |
NSD1 | 1 | Jun 2, 2019 |
PAX3 | 1 | Jun 2, 2019 |
PGAP2 | 2 | Jun 2, 2019 |
PHIP | 1 | Feb 27, 2021 |
PIGG | 1 | Jun 2, 2019 |
PIGN | 2 | Mar 18, 2021 |
PIGO | 1 | Jun 2, 2019 |
PIGV | 1 | Jun 2, 2019 |
POLR2A | 1 | Feb 27, 2021 |
PPM1D | 1 | Jun 17, 2020 |
PTPN11 | 8 | Jun 2, 2019 |
PUF60 | 1 | Feb 27, 2021 |
PYCR1 | 4 | Jun 2, 2019 |
RAF1 | 1 | Jun 2, 2019 |
RAI1 | 1 | Mar 14, 2022 |
RIT1 | 7 | Jun 2, 2019 |
RPL36A-HNRNPH2 | 1 | Oct 9, 2020 |
RPS6KA3 | 1 | Jun 2, 2019 |
RUNX2 | 1 | Jun 2, 2019 |
SCAF4 | 1 | Jul 24, 2020 |
SET | 1 | Mar 14, 2022 |
SETD5 | 1 | Mar 14, 2022 |
SHANK3 | 1 | Oct 9, 2020 |
SLC20A2 | 1 | Mar 14, 2022 |
SLC6A8 | 1 | Nov 6, 2020 |
SMARCA2 | 1 | Jun 2, 2019 |
SMARCA4 | 1 | Mar 14, 2022 |
SMARCB1 | 1 | Jun 2, 2019 |
SMS | 1 | Jun 3, 2020 |
SNHG14 | 1 | Oct 9, 2020 |
SON | 1 | Jun 4, 2020 |
SOS1 | 5 | Jun 2, 2019 |
SOX5 | 1 | Jul 9, 2020 |
SURF1 | 1 | Nov 7, 2020 |
TBK1 | 1 | Apr 6, 2021 |
TCF4 | 1 | Jun 2, 2019 |
TGFBR2 | 1 | Jun 2, 2019 |
TMX2-CTNND1 | 1 | Oct 21, 2020 |
TNFRSF13B | 1 | Apr 19, 2021 |
TRIO | 1 | Oct 9, 2020 |
TRIP12 | 1 | Feb 27, 2021 |
TRMT1 | 1 | Feb 27, 2021 |
TRPS1 | 3 | Jun 2, 2019 |
TRRAP | 2 | Jun 14, 2021 |
TUBA1A | 1 | May 14, 2021 |
UBE3A | 1 | Oct 9, 2020 |
ZBTB18 | 1 | Mar 14, 2022 |
ZBTB24 | 1 | Oct 9, 2020 |
ZEB2 | 1 | Jun 2, 2019 |