Beijing Key Laboratry for Genetics of Birth Defects (Beijing Children's Hospital)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 107
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC9 | 1 | Jul 1, 2021 |
ACADM | 2 | Jul 1, 2021 |
ADA | 2 | Mar 6, 2021 |
ALMS1 | 1 | Jul 1, 2021 |
ANKS6 | 2 | Jul 1, 2021 |
ASL | 2 | Jul 1, 2021 |
ATP7B | 4 | Jul 1, 2021 |
BTK | 2 | Jul 1, 2021 |
CASZ1 | 1 | Jul 1, 2021 |
CCDC39 | 1 | Mar 6, 2021 |
CCNO | 2 | Mar 6, 2021 |
CD36 | 2 | Mar 6, 2021 |
CDCA7L | 1 | Mar 6, 2021 |
CFH | 1 | Jul 1, 2021 |
CLASP1 | 2 | Jul 1, 2021 |
CPT2 | 2 | Jul 1, 2021 |
CYBB | 3 | Mar 6, 2021 |
DNAAF1 | 2 | Mar 6, 2021 |
DNAH11 | 5 | Mar 6, 2021 |
DNAH5 | 4 | Mar 6, 2021 |
DPH1 | 2 | Mar 6, 2021 |
EIF2AK3 | 2 | Jul 1, 2021 |
ELANE | 2 | Mar 6, 2021 |
ELN | 1 | Jul 1, 2021 |
ELN-AS1 | 1 | Jul 1, 2021 |
ENG | 1 | Mar 6, 2021 |
FBN1 | 1 | Jul 1, 2021 |
FGFR3 | 1 | Mar 6, 2021 |
FLNA | 1 | Mar 6, 2021 |
FOXP3 | 1 | Mar 6, 2021 |
G6PC1 | 2 | Jul 1, 2021 |
GAA | 2 | Jul 1, 2021 |
GABRB2 | 1 | Jul 1, 2021 |
GPI | 2 | Jul 1, 2021 |
HMGCS2 | 2 | Jul 1, 2021 |
IFIH1 | 1 | Jul 1, 2021 |
IGHMBP2 | 1 | Jul 1, 2021 |
IL10RA | 2 | Jul 1, 2021 |
IL2RG | 1 | Mar 6, 2021 |
IL36RN | 1 | Jul 1, 2021 |
ITGB2 | 1 | Mar 6, 2021 |
KCNJ11 | 1 | Jul 1, 2021 |
KMT2D | 3 | Jul 1, 2021 |
KRAS | 1 | Jul 1, 2021 |
LOC126863207 | 1 | Jul 1, 2021 |
LOC129930446 | 1 | Jul 1, 2021 |
LOC129993895 | 2 | Mar 6, 2021 |
LPIN2 | 2 | Mar 6, 2021 |
LRBA | 2 | Mar 6, 2021 |
MAP2K1 | 1 | Jul 1, 2021 |
MCCC1 | 2 | Jul 1, 2021 |
MID1 | 1 | Jul 1, 2021 |
MMACHC | 2 | Jul 1, 2021 |
MPZ | 1 | Jul 1, 2021 |
ODAD3 | 2 | Mar 6, 2021 |
P4HB | 1 | Jul 1, 2021 |
PIK3CA | 1 | Mar 6, 2021 |
PIK3CD | 1 | Mar 6, 2021 |
PRF1 | 2 | Mar 6, 2021 |
RAG1 | 4 | Jul 1, 2021 |
RNU4ATAC | 2 | Jul 1, 2021 |
RYR1 | 2 | Jul 1, 2021 |
SCN1A | 1 | Jul 1, 2021 |
SCN2A | 1 | Jul 1, 2021 |
SCN5A | 1 | Jul 1, 2021 |
SDHB | 1 | Jul 1, 2021 |
SFTPC | 1 | Mar 6, 2021 |
SMARCB1 | 1 | Mar 6, 2021 |
STAT3 | 1 | Mar 6, 2021 |
TNNI3 | 1 | Jul 1, 2021 |
TP53 | 1 | Jul 1, 2021 |