Institute of Human Genetics, FAU Erlangen (Friedrich-Alexander-Universität Erlangen-Nürnberg), IoHGE
General information
Institute of Human Genetics, FAU Erlangen, IoHGE
Friedrich-Alexander-Universität Erlangen-Nürnberg
Schwabachanlage 10
Erlangen
Bayern
Germany - 91054
http://www.humangenetik.uk-erlangen.de/
Organization ID: 505150
Friedrich-Alexander-Universität Erlangen-Nürnberg
Schwabachanlage 10
Erlangen
Bayern
Germany - 91054
http://www.humangenetik.uk-erlangen.de/
Organization ID: 505150
Personnel
- Christian Thiel, Administrator
Phone: +49-9131-85-44637
Email: Christian.thiel@uk-erlangen.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 646
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC9 | 1 | May 7, 2024 |
ACTB | 1 | Aug 3, 2017 |
ACTG1 | 1 | Jun 12, 2024 |
ADGRB3 | 2 | Jan 10, 2019 |
ADGRL1 | 1 | Nov 29, 2023 |
ADGRL1-AS1 | 1 | Nov 29, 2023 |
AEBP1 | 1 | Jun 12, 2018 |
AFF4 | 1 | Oct 13, 2023 |
AHDC1 | 1 | Aug 3, 2017 |
AKT3 | 1 | May 16, 2023 |
ALG12 | 1 | Jan 10, 2019 |
AMMECR1 | 1 | Jan 10, 2019 |
ANKRD11 | 2 | Apr 19, 2023 |
ANKRD17 | 1 | Apr 25, 2023 |
ANKS3 | 1 | Jan 10, 2019 |
ANOS1 | 1 | Nov 27, 2023 |
APC | 1 | Aug 26, 2024 |
AR | 1 | Apr 17, 2023 |
ARID1B | 1 | Mar 13, 2024 |
ATL1 | 1 | Jan 22, 2024 |
ATM | 1 | Nov 22, 2023 |
ATP6V1B2 | 1 | Aug 3, 2017 |
ATRX | 1 | Aug 3, 2017 |
AUTS2 | 1 | Mar 21, 2023 |
BAP1 | 1 | Jan 2, 2024 |
BARD1 | 1 | Sep 19, 2023 |
BCL11A | 1 | Apr 15, 2024 |
BPTF | 1 | Aug 3, 2017 |
BRCA1 | 4 | Jan 17, 2024 |
BRCA2 | 10 | Sep 25, 2024 |
BRD4 | 1 | Jan 10, 2019 |
C11orf65 | 1 | Nov 22, 2023 |
CACNA1A | 1 | Feb 9, 2024 |
CALM2 | 1 | May 1, 2023 |
CASK | 1 | Aug 3, 2017 |
CCDC120 | 1 | Jan 10, 2019 |
CCM2 | 1 | Sep 23, 2024 |
CEP76 | 3 | Jan 10, 2019 |
CHD1L | 1 | Jan 10, 2019 |
CHD3 | 1 | Sep 8, 2023 |
CHD8 | 1 | Aug 3, 2017 |
CHEK2 | 4 | Jan 8, 2024 |
CLGN | 3 | Jan 10, 2019 |
CLIC4 | 1 | Jan 10, 2019 |
CLIP1 | 1 | Jan 10, 2019 |
CNOT3 | 1 | Jun 7, 2023 |
CPE | 1 | Aug 22, 2021 |
CPZ | 2 | Jan 10, 2019 |
CREBBP | 1 | Sep 28, 2023 |
CSNK2B | 1 | Mar 12, 2024 |
CTBP1 | 1 | Apr 23, 2024 |
CTBP1-AS | 1 | Apr 23, 2024 |
CYFIP2 | 1 | Apr 3, 2024 |
DDX23 | 1 | Apr 17, 2024 |
DENND4B | 2 | Jan 10, 2019 |
DIAPH1 | 1 | Jan 26, 2024 |
DICER1 | 2 | Mar 20, 2024 |
DNAH17 | 3 | Jan 10, 2019 |
DNAH17-AS1 | 1 | Jan 10, 2019 |
DPF2 | 1 | Sep 15, 2017 |
DPRX | 1 | Jan 10, 2019 |
DSP | 1 | Oct 25, 2023 |
EDEM3 | 2 | Jan 10, 2019 |
EHMT1 | 2 | Jun 20, 2023 |
ERF | 1 | Jan 12, 2024 |
ETV6 | 1 | Apr 9, 2024 |
FBRS | 3 | Jan 10, 2019 |
FGF18 | 1 | Jan 10, 2019 |
FGFR3 | 1 | Aug 26, 2024 |
FOXC1 | 2 | Mar 6, 2018 |
FRMPD4 | 2 | Oct 1, 2024 |
FZD2 | 2 | Jan 10, 2019 |
GABRA1 | 1 | Jul 5, 2016 |
GABRA2 | 1 | Feb 27, 2024 |
GABRB2 | 1 | Mar 21, 2023 |
GABRD | 1 | Jun 20, 2023 |
GABRE | 1 | Jan 10, 2019 |
GNAS | 1 | Aug 3, 2017 |
GREB1L | 2 | Jan 10, 2019 |
GRIA3 | 1 | Apr 18, 2024 |
GRID2 | 1 | Jun 29, 2020 |
GRIN2B | 1 | Aug 1, 2023 |
H2AP | 1 | Jan 10, 2019 |
HIVEP2 | 1 | Mar 8, 2023 |
HKDC1 | 3 | Jan 10, 2019 |
HNF1B | 217 | Jul 7, 2019 |
HNRNPU | 1 | Jun 1, 2023 |
HOOK3 | 2 | Jan 10, 2019 |
HPGD | 1 | Apr 25, 2023 |
IFIH1 | 2 | Nov 14, 2023 |
IFT81 | 2 | Jan 10, 2019 |
ITIH6 | 2 | Jan 10, 2019 |
JAKMIP1 | 1 | Aug 3, 2017 |
KANSL1 | 1 | Sep 7, 2023 |
KAT6B | 1 | Sep 3, 2024 |
KCNB1 | 1 | Aug 3, 2023 |
KCNC2 | 1 | Mar 13, 2024 |
KCND1 | 2 | Jan 10, 2019 |
KCNQ2 | 1 | Aug 3, 2017 |
KDM4B | 1 | Mar 26, 2024 |
KDM6A | 2 | Sep 30, 2024 |
KMT2A | 1 | Aug 3, 2017 |
KMT2B | 1 | Oct 20, 2023 |
KRAS | 1 | Aug 3, 2017 |
LAMA5 | 7 | Jan 10, 2019 |
LENG1 | 1 | Jun 7, 2023 |
LMNA | 1 | Aug 21, 2024 |
LOC101927521 | 2 | Jan 10, 2019 |
LOC107303340 | 1 | Sep 25, 2023 |
LOC122056818 | 1 | Jan 10, 2019 |
LOC126805641 | 1 | Jan 10, 2019 |
LOC126806462 | 1 | Jun 20, 2023 |
LOC126860950 | 1 | Jan 10, 2019 |
LOC126862549 | 30 | Jul 7, 2019 |
LOC129996783 | 1 | Aug 21, 2023 |
LOC130009266 | 1 | Apr 17, 2023 |
LOC130067016 | 1 | Jan 10, 2019 |
LRRC7 | 1 | Aug 3, 2017 |
LRRC7-AS1 | 1 | Aug 3, 2017 |
LY6G5B | 1 | Mar 12, 2024 |
LZTR1 | 2 | Jan 10, 2019 |
MACF1 | 5 | Jan 10, 2019 |
MAF | 1 | Nov 14, 2023 |
MAGED2 | 1 | Aug 14, 2023 |
MAOA | 1 | Aug 3, 2017 |
MAP4K4 | 1 | Sep 7, 2023 |
MAPK8IP3 | 1 | Aug 18, 2023 |
MECP2 | 2 | Aug 23, 2024 |
MED12 | 1 | Aug 3, 2017 |
MED13 | 1 | Sep 25, 2024 |
MED13L | 2 | Aug 3, 2017 |
MED24 | 2 | Jan 10, 2019 |
MLC1 | 2 | Mar 19, 2024 |
MSH2 | 2 | Jan 3, 2024 |
MTA3 | 1 | Jan 10, 2019 |
MXRA5 | 2 | Jan 10, 2019 |
MYBPC3 | 1 | Apr 10, 2024 |
MYH7B | 5 | Jan 10, 2019 |
N4BP2L2 | 1 | Jan 10, 2019 |
NAA10 | 5 | Mar 31, 2016 |
NAA15 | 1 | Sep 26, 2023 |
NF1 | 2 | Jan 24, 2024 |
NR4A2 | 1 | Aug 21, 2023 |
NSD1 | 1 | Sep 30, 2024 |
NSD2 | 1 | Apr 16, 2024 |
OBI1-AS1 | 1 | Mar 29, 2023 |
OBSCN | 3 | Jan 10, 2019 |
OCRL | 1 | Mar 26, 2024 |
OSBP | 1 | Jan 10, 2019 |
PAK1 | 1 | Jun 1, 2023 |
PALB2 | 1 | Oct 19, 2023 |
PDHA1 | 1 | Sep 29, 2023 |
PDZRN3 | 2 | Jan 10, 2019 |
PHF20 | 2 | Jan 10, 2019 |
PIK3C2A | 1 | Jan 10, 2019 |
PIK3CA | 1 | Jun 1, 2023 |
PLXNA3 | 2 | Jan 10, 2019 |
POGZ | 1 | Sep 7, 2023 |
POLE | 2 | Apr 17, 2023 |
POLR2E | 1 | Jan 10, 2019 |
POU4F1 | 1 | Mar 29, 2023 |
PPM1D | 1 | Mar 6, 2023 |
PRR12 | 1 | Mar 15, 2024 |
PSMD11 | 1 | Jan 10, 2019 |
PSMG2 | 3 | Jan 10, 2019 |
PTCH1 | 1 | Sep 26, 2023 |
PTEN | 1 | May 30, 2023 |
PTPN11 | 1 | Feb 15, 2023 |
PTPRU | 3 | Jan 10, 2019 |
PUM1 | 1 | Aug 3, 2017 |
PYGB | 1 | Jan 10, 2019 |
QRICH1 | 1 | Jun 26, 2020 |
RAD51C | 1 | Feb 7, 2024 |
RAD51D | 2 | Sep 3, 2024 |
RAD51L3-RFFL | 2 | Sep 3, 2024 |
RAI1 | 1 | May 11, 2023 |
RARB | 1 | Jan 22, 2024 |
RASA3 | 2 | Jan 10, 2019 |
RELA | 1 | Mar 6, 2023 |
RFX7 | 1 | Sep 8, 2023 |
RIT1 | 1 | Aug 3, 2017 |
RNF31 | 2 | Jan 10, 2019 |
RORA | 1 | Mar 6, 2023 |
RORA-AS1 | 1 | Mar 6, 2023 |
ROS1 | 2 | Jan 10, 2019 |
RUNX1T1 | 1 | Jan 10, 2019 |
SALL1 | 1 | Mar 6, 2023 |
SAMHD1 | 1 | Nov 14, 2023 |
SATB2 | 1 | Jun 20, 2023 |
SETD1B | 1 | Mar 20, 2024 |
SETD5 | 2 | Sep 27, 2023 |
SIN3A | 1 | Aug 3, 2017 |
SLC38A3 | 3 | Jan 10, 2019 |
SLC7A8 | 2 | Jan 10, 2019 |
SMARCA4 | 2 | Mar 21, 2023 |
SMARCA5 | 1 | Jan 10, 2019 |
SNHG14 | 1 | Apr 25, 2023 |
SPRED1 | 2 | Jul 8, 2024 |
SPTB | 1 | Jan 22, 2024 |
SRD5A3 | 2 | Mar 11, 2022 |
SRPX | 2 | Jan 10, 2019 |
STXBP1 | 2 | Aug 1, 2023 |
SYNGAP1 | 2 | Oct 13, 2023 |
SYNGAP1-AS1 | 2 | Oct 13, 2023 |
SYTL5 | 1 | Jan 10, 2019 |
TCF20 | 2 | Mar 12, 2024 |
TCF4 | 1 | Aug 3, 2017 |
TFE3 | 1 | Jun 20, 2023 |
TRAPPC11 | 1 | Aug 3, 2017 |
TRIM8 | 1 | Oct 13, 2023 |
TRIP12 | 1 | Oct 25, 2023 |
TSC1 | 1 | Aug 12, 2024 |
TSTD3 | 4 | Jan 10, 2019 |
TUBA1A | 114 | Dec 27, 2023 |
UBE3A | 1 | Apr 25, 2023 |
UBR4 | 6 | Jan 10, 2019 |
USP24 | 3 | Jan 10, 2019 |
USP45 | 4 | Jan 10, 2019 |
USP51 | 1 | Jan 10, 2019 |
VHL | 1 | Sep 25, 2023 |
VWCE | 1 | Jan 10, 2019 |
WAC | 1 | Aug 3, 2017 |
WDR6 | 1 | Jan 10, 2019 |
WNT10A | 1 | Apr 26, 2023 |
XPNPEP3 | 2 | May 2, 2023 |
ZBED4 | 1 | Jan 10, 2019 |
ZBTB18 | 1 | Aug 3, 2017 |
ZFC3H1 | 2 | Jan 10, 2019 |
ZFHX3 | 2 | Jan 10, 2019 |
ZFHX3-AS1 | 2 | Jan 10, 2019 |
ZMIZ1 | 1 | Sep 22, 2023 |
ZMYND11 | 1 | Aug 3, 2017 |
ZMYND8 | 1 | Aug 3, 2017 |
ZNF292 | 2 | Aug 21, 2023 |
ZNF446 | 3 | Jan 10, 2019 |
ZNF449 | 2 | Jan 10, 2019 |