Center for Reproductive Medicine
(Peking University Third Hospital), CRM
General information
Center for Reproductive Medicine, CRM
Peking University Third Hospital
No. 49 North Huayuan Road, Haidian District
Beijing
China - 100191
Organization ID: 507152
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 56
Gene
Gene | Submissions | Last Updated |
---|
BLTP1 | 4 | Apr 15, 2020 |
C2CD3 | 2 | Apr 15, 2020 |
CC2D2A | 2 | Apr 15, 2020 |
CCNH | 1 | Apr 15, 2020 |
CEP170B | 2 | Apr 15, 2020 |
CEP290 | 2 | Apr 15, 2020 |
CEP70 | 3 | Apr 15, 2020 |
CHRNA1 | 1 | Apr 15, 2020 |
CHRNG | 2 | Apr 15, 2020 |
COL11A2 | 2 | Apr 15, 2020 |
CPLANE1 | 2 | Apr 15, 2020 |
DLL3 | 1 | Apr 15, 2020 |
DYNC2H1 | 2 | Apr 15, 2020 |
FOXP3 | 1 | Apr 15, 2020 |
GLDN | 2 | Apr 15, 2020 |
HSALR1 | 1 | Apr 15, 2020 |
HYLS1 | 2 | Apr 15, 2020 |
L1CAM | 1 | Apr 15, 2020 |
LAMA5 | 2 | Apr 15, 2020 |
MAGEL2 | 1 | Apr 15, 2020 |
NODAL | 2 | Apr 15, 2020 |
NONO | 1 | Apr 15, 2020 |
PIEZO1 | 6 | Apr 15, 2020 |
POMT1 | 2 | Apr 15, 2020 |
PUS3 | 2 | Apr 15, 2020 |
RAPSN | 2 | Apr 15, 2020 |
RASA1 | 1 | Apr 15, 2020 |
RYR1 | 2 | Apr 15, 2020 |
SLC26A3 | 3 | Apr 15, 2020 |
SZT2 | 2 | Apr 15, 2020 |
ZRSR2 | 1 | Apr 15, 2020 |
Condition
Name | Submissions | Last Updated | Abnormality of the lung | 2 | Apr 15, 2020 |
Ambiguous genitalia | 1 | Apr 15, 2020 |
Anencephaly | 2 | Apr 15, 2020 |
Ankle flexion contracture | 6 | Apr 15, 2020 |
Aplasia/Hypoplasia of the cerebellum | 2 | Apr 15, 2020 |
Arthrogryposis multiplex congenita | 2 | Apr 15, 2020 |
Arthrogryposis-like hand anomaly | 2 | Apr 15, 2020 |
Cerebral venous angioma | 1 | Apr 15, 2020 |
Clubfoot | 2 | Apr 15, 2020 |
Cystic hygroma | 2 | Apr 15, 2020 |
Deformed rib cage | 2 | Apr 15, 2020 |
Dysgenesis of the cerebellar vermis | 4 | Apr 15, 2020 |
Encephalocele | 8 | Apr 15, 2020 |
Fetal ascites | 1 | Apr 15, 2020 |
Gastrointestinal obstruction | 1 | Apr 15, 2020 |
Generalized hypotonia | 1 | Apr 15, 2020 |
Heart, malformation of | 12 | Apr 15, 2020 |
Hemivertebrae | 3 | Apr 15, 2020 |
Holoprosencephaly sequence | 3 | Apr 15, 2020 |
Hydrops fetalis | 17 | Apr 15, 2020 |
Intestinal obstruction | 2 | Apr 15, 2020 |
Median cleft lip and palate | 6 | Apr 15, 2020 |
Multiple joint contractures | 3 | Apr 15, 2020 |
Pleural effusion | 1 | Apr 15, 2020 |
Polycystic kidney disease | 4 | Apr 15, 2020 |
Polydactyly | 2 | Apr 15, 2020 |
Polyhydramnios | 9 | Apr 15, 2020 |
Renal agenesis | 2 | Apr 15, 2020 |
Rib fusion | 1 | Apr 15, 2020 |
Right aortic arch | 2 | Apr 15, 2020 |
Rudimentary fibula | 2 | Apr 15, 2020 |
Scoliosis | 2 | Apr 15, 2020 |
Severe hydrocephalus | 10 | Apr 15, 2020 |
Short long bone | 4 | Apr 15, 2020 |
Short ribs | 2 | Apr 15, 2020 |
Thickened nuchal skin fold | 6 | Apr 15, 2020 |
Ventriculomegaly | 1 | Apr 15, 2020 |