Institute of Human Genetics (University Hospital of Duesseldorf), UKD-HHU
General information
Personnel
- Cornelia Blank, Principal Investigator
Phone: +49-211-81-06791
Email: cornelia.blank@med.uni-duesseldorf.de - Barbara Leube, Principal Investigator
Phone: 0049-211-8112349
Email: leube@uni-duesseldorf.de - Sugirtahn Sivalingam, Informatics staff
Phone: +49-211-81-06794
Email: sugirtahn.sivalingam@med.uni-duesseldorf.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 219
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 2 | Oct 20, 2023 |
ABCC9 | 1 | Nov 28, 2023 |
ACTA2 | 1 | Dec 20, 2023 |
ADAT3 | 1 | Nov 28, 2023 |
ADGRV1 | 1 | Oct 20, 2023 |
AHDC1 | 1 | Dec 20, 2023 |
AIFM1 | 1 | Oct 20, 2023 |
ALG11 | 1 | Dec 20, 2023 |
ANKRD11 | 1 | Oct 20, 2023 |
AOPEP | 3 | Nov 28, 2023 |
APC | 1 | Nov 28, 2023 |
ARHGAP31 | 2 | Dec 20, 2023 |
ARID1B | 2 | Nov 28, 2023 |
ARSA | 1 | Oct 20, 2023 |
ASXL1 | 1 | Oct 20, 2023 |
ASXL3 | 1 | Oct 20, 2023 |
ATM | 3 | Nov 28, 2023 |
ATP1A2 | 1 | Dec 20, 2023 |
ATP1A3 | 2 | Nov 28, 2023 |
ATP2A1 | 1 | Oct 20, 2023 |
ATRX | 1 | Nov 28, 2023 |
AUTS2 | 1 | Oct 20, 2023 |
BICD2 | 1 | Oct 20, 2023 |
BPTF | 1 | Dec 20, 2023 |
BRCA1 | 1 | Nov 28, 2023 |
BRCA2 | 2 | Nov 28, 2023 |
C11orf65 | 2 | Nov 28, 2023 |
CACNA1A | 2 | Oct 20, 2023 |
CACNA1G | 1 | Feb 15, 2023 |
CAMTA1 | 1 | Oct 20, 2023 |
CC2D2A | 1 | Nov 28, 2023 |
CDH15 | 1 | Oct 20, 2023 |
CDKL5 | 1 | Nov 28, 2023 |
CERT1 | 1 | Dec 20, 2023 |
CFTR | 1 | Nov 28, 2023 |
CFTR-AS1 | 1 | Nov 28, 2023 |
CHD1 | 1 | Oct 20, 2023 |
CHEK2 | 1 | Nov 28, 2023 |
CHRNA7 | 1 | Dec 20, 2023 |
CIC | 2 | Dec 20, 2023 |
CLCN1 | 2 | Nov 28, 2023 |
CLPB | 3 | Dec 20, 2023 |
CNOT1 | 1 | Oct 20, 2023 |
COL2A1 | 1 | Nov 28, 2023 |
COL5A2 | 1 | Dec 20, 2023 |
CPLANE1 | 3 | Dec 20, 2023 |
CREBBP | 1 | Dec 20, 2023 |
CSNK2A1 | 1 | Nov 28, 2023 |
CTNS | 1 | Dec 20, 2023 |
CYB5R3 | 1 | Oct 20, 2023 |
CYP7B1 | 1 | Dec 20, 2023 |
DCX | 1 | Oct 20, 2023 |
DDX3X | 1 | Dec 20, 2023 |
DHCR7 | 1 | Nov 28, 2023 |
DNAJC30 | 1 | Oct 20, 2023 |
EDNRB | 1 | Oct 20, 2023 |
EDNRB-AS1 | 1 | Oct 20, 2023 |
EFNB1 | 1 | Nov 28, 2023 |
EP300 | 1 | Oct 20, 2023 |
EXOSC3 | 1 | Nov 28, 2023 |
EXT1 | 3 | Oct 20, 2023 |
EXT2 | 1 | Oct 20, 2023 |
FAH | 1 | Jul 18, 2023 |
FBN1 | 1 | Oct 20, 2023 |
FBXO28 | 1 | Oct 20, 2023 |
FGF9 | 1 | Feb 2, 2023 |
FOXP1 | 1 | Nov 28, 2023 |
GCH1 | 2 | Oct 20, 2023 |
GJB1 | 1 | Oct 20, 2023 |
GJB2 | 2 | Dec 20, 2023 |
GLI2 | 1 | Oct 20, 2023 |
GLUD1 | 1 | Dec 20, 2023 |
GNS | 1 | Oct 20, 2023 |
GPC6 | 1 | Dec 20, 2023 |
GPC6-AS2 | 1 | Dec 20, 2023 |
GRIA1 | 1 | Dec 20, 2023 |
GRIA4 | 1 | Oct 20, 2023 |
GRIN2A | 1 | Feb 23, 2023 |
GRIN2D | 1 | Oct 20, 2023 |
GRN | 1 | Nov 28, 2023 |
HNRNPK | 1 | Dec 20, 2023 |
HNRNPK-AS1 | 1 | Dec 20, 2023 |
HSPB1 | 1 | Oct 20, 2023 |
HSPG2 | 2 | Nov 28, 2023 |
IFIH1 | 3 | Dec 20, 2023 |
KAT6A | 2 | Nov 28, 2023 |
KCNB1 | 1 | Nov 28, 2023 |
KCNC1 | 1 | Oct 20, 2023 |
KCNC3 | 1 | Oct 20, 2023 |
KCND3 | 1 | Feb 15, 2023 |
KCNMA1 | 1 | Dec 20, 2023 |
KCNQ2 | 1 | Dec 20, 2023 |
KDM3B | 1 | Nov 28, 2023 |
KDM5B | 1 | Oct 20, 2023 |
KIF1A | 1 | Oct 20, 2023 |
KIF5A | 1 | Oct 20, 2023 |
KMT2A | 1 | Nov 28, 2023 |
KMT2E | 1 | Oct 20, 2023 |
KMT5B | 2 | Dec 20, 2023 |
LDLR | 4 | Nov 28, 2023 |
LIX1L-AS1 | 1 | Oct 20, 2023 |
LMBRD2 | 1 | Jul 18, 2023 |
LOC115308161 | 1 | Oct 20, 2023 |
LOC126805851 | 1 | Oct 20, 2023 |
LOC126806583 | 1 | Oct 20, 2023 |
LOC129932579 | 1 | Oct 20, 2023 |
LOC129997522 | 1 | Oct 20, 2023 |
LOC129998603 | 1 | Oct 20, 2023 |
MAN2C1 | 1 | Oct 20, 2023 |
MC1R | 1 | Oct 20, 2023 |
MED12 | 1 | Oct 20, 2023 |
MED12L | 1 | Nov 28, 2023 |
MIA3 | 1 | Oct 20, 2023 |
MIR6886 | 1 | Oct 20, 2023 |
MKS1 | 1 | Nov 28, 2023 |
MPZ | 2 | Nov 28, 2023 |
MRE11 | 1 | Nov 28, 2023 |
MT-ATP6 | 1 | Nov 28, 2023 |
MTOR | 1 | Nov 28, 2023 |
MVP-DT | 1 | Oct 20, 2023 |
NBN | 1 | Dec 20, 2023 |
NDUFA13 | 1 | Dec 20, 2023 |
NEB | 1 | Nov 28, 2023 |
NKX2-1 | 2 | Oct 20, 2023 |
NR2F2 | 1 | May 30, 2023 |
OBI1-AS1 | 1 | Dec 20, 2023 |
OFD1 | 1 | Nov 28, 2023 |
OPN1LW | 1 | Oct 20, 2023 |
OSGIN2 | 1 | Dec 20, 2023 |
PALB2 | 1 | Dec 20, 2023 |
PAX6 | 1 | Oct 20, 2023 |
PCGF2 | 1 | Nov 28, 2023 |
PCLO | 2 | Oct 20, 2023 |
PHF8 | 1 | Nov 28, 2023 |
PIEZO1 | 1 | Nov 28, 2023 |
PIGT | 1 | Dec 20, 2023 |
POLG | 1 | Oct 20, 2023 |
POLGARF | 1 | Oct 20, 2023 |
POLR2A | 2 | Dec 20, 2023 |
POU4F1 | 1 | Dec 20, 2023 |
PRKCG | 1 | Oct 20, 2023 |
PRNP | 2 | Dec 20, 2023 |
PRRT2 | 1 | Oct 20, 2023 |
QRICH1 | 2 | Nov 28, 2023 |
RAB33A | 1 | Oct 20, 2023 |
RBM8A | 1 | Oct 20, 2023 |
RELN | 1 | Dec 20, 2023 |
RIF1 | 1 | Nov 28, 2023 |
RNF216 | 1 | Dec 20, 2023 |
SACS | 2 | Oct 20, 2023 |
SAMD9L | 1 | Feb 15, 2023 |
SATB2 | 1 | Oct 20, 2023 |
SCAMP4 | 1 | Nov 28, 2023 |
SCN3A | 1 | Dec 20, 2023 |
SDHB | 1 | Nov 28, 2023 |
SDHC | 1 | Nov 28, 2023 |
SETD5 | 1 | Nov 28, 2023 |
SFTA3 | 2 | Oct 20, 2023 |
SH3TC2 | 1 | Nov 28, 2023 |
SLC33A1 | 1 | Oct 20, 2023 |
SLC39A14 | 1 | Oct 20, 2023 |
SLC3A1 | 1 | Nov 28, 2023 |
SON | 2 | Nov 28, 2023 |
SOX4 | 1 | Oct 20, 2023 |
SPAST | 2 | Oct 20, 2023 |
SPEN | 1 | Oct 20, 2023 |
SPG11 | 1 | Oct 20, 2023 |
SPG7 | 3 | Nov 28, 2023 |
SRCAP | 2 | Oct 20, 2023 |
STUB1 | 2 | Oct 20, 2023 |
SYT1 | 1 | Dec 20, 2023 |
TAF2 | 1 | Oct 20, 2023 |
TBC1D24 | 1 | Dec 20, 2023 |
TCOF1 | 2 | Dec 20, 2023 |
TET3 | 1 | Oct 20, 2023 |
THAP1 | 1 | Oct 20, 2023 |
THTPA | 1 | Dec 20, 2023 |
TINF2 | 1 | Oct 20, 2023 |
TLK2 | 1 | Dec 20, 2023 |
TMEM240 | 1 | Dec 20, 2023 |
TNNT3 | 1 | Nov 28, 2023 |
TRAPPC9 | 2 | Oct 20, 2023 |
TSC1 | 1 | Oct 20, 2023 |
TSC2 | 1 | Oct 20, 2023 |
TUBB4A | 1 | Nov 28, 2023 |
UTP14C | 1 | Dec 20, 2023 |
VPS13A | 2 | Oct 20, 2023 |
VPS13B | 3 | Oct 20, 2023 |
VPS16 | 2 | Nov 28, 2023 |
WDR11 | 1 | Oct 20, 2023 |
WNT5A | 1 | Oct 20, 2023 |
XPR1 | 1 | Oct 20, 2023 |
ZFHX2 | 1 | Dec 20, 2023 |
ZMIZ1 | 1 | Oct 20, 2023 |
ZMYND11 | 1 | Dec 20, 2023 |