Department of Traditional Chinese Medicine
(Fujian Provincial Hospital)
General information
Department of Traditional Chinese Medicine
Fujian Provincial Hospital
No.134 Dongjie
Fuzhou
China - 350001
Organization ID: 506270
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 47
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCC8 | 1 | Apr 23, 2024 |
| ABCG5 | 1 | Nov 16, 2021 |
| ABCG8 | 1 | Nov 16, 2021 |
| APC | 1 | Jan 26, 2021 |
| BBS2 | 1 | Oct 22, 2023 |
| CASR | 1 | May 16, 2022 |
| COL4A4 | 1 | Jul 6, 2024 |
| COL4A5 | 3 | Mar 7, 2024 |
| CYB5R3 | 2 | Feb 17, 2024 |
| CYP2U1 | 1 | Jul 25, 2024 |
| DNAJB11 | 1 | Apr 29, 2024 |
| EHMT1 | 1 | Apr 13, 2024 |
| ENG | 1 | Nov 6, 2022 |
| FANCA | 2 | Apr 16, 2024 |
| FH | 1 | Nov 15, 2022 |
| FLCN | 1 | Nov 15, 2022 |
| FPGT-TNNI3K | 1 | Apr 19, 2024 |
| GBA1 | 2 | Nov 2, 2023 |
| GSN | 2 | Nov 5, 2024 |
| LDLR | 2 | Feb 25, 2022 |
| LIPA | 1 | Sep 28, 2023 |
| LMX1B | 1 | Jul 6, 2024 |
| LOC106627981 | 2 | Nov 2, 2023 |
| LOC651337 | 1 | Apr 13, 2024 |
| LZTR1 | 1 | Sep 28, 2023 |
| MTHFR | 1 | Mar 6, 2022 |
| NF1 | 1 | Jun 2, 2022 |
| NOTCH1 | 1 | Jul 11, 2023 |
| NPHS1 | 2 | Nov 15, 2022 |
| PHEX | 2 | Aug 20, 2021 |
| PKLR | 1 | Jun 28, 2023 |
| PLOD2 | 1 | Sep 8, 2021 |
| POLR3A | 1 | Jun 20, 2023 |
| PROS1 | 1 | May 4, 2021 |
| PTCHD1-AS | 1 | Oct 10, 2017 |
| RAB11B | 1 | May 21, 2024 |
| SCN5A | 2 | Apr 10, 2024 |
| SLC12A3 | 1 | Mar 6, 2021 |
| SLC7A7 | 1 | Mar 6, 2022 |
| SLCO1B1 | 1 | May 26, 2022 |
| TENM4 | 1 | Mar 14, 2022 |
| TNNI3K | 1 | Apr 19, 2024 |
Condition
| Name | Submissions | Last Updated | | Alport syndrome | 3 | Mar 7, 2024 |
| Aortic valve disease 1 | 1 | Jul 11, 2023 |
| Atrial conduction disease | 1 | Apr 19, 2024 |
| Autosomal dominant Alport syndrome | 1 | Jul 6, 2024 |
| Autosomal dominant polycystic kidney disease | 1 | Apr 29, 2024 |
| Bardet-Biedl syndrome 2 | 1 | Oct 22, 2023 |
| Birt-Hogg-Dube syndrome | 1 | Nov 15, 2022 |
| Bruck syndrome 2 | 1 | Sep 8, 2021 |
| Brugada syndrome | 1 | Oct 2, 2021 |
| Congenital and infantile nephrotic syndrome | 1 | Nov 15, 2022 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Aug 20, 2021 |
| Familial adenomatous polyposis 1 | 1 | Jan 26, 2021 |
| Familial hypocalciuric hypercalcemia 1 | 1 | May 16, 2022 |
| Familial hypokalemia-hypomagnesemia | 1 | Mar 6, 2021 |
| Fanconi anemia | 2 | Apr 16, 2024 |
| Finnish congenital nephrotic syndrome | 1 | Nov 6, 2022 |
| Finnish type amyloidosis | 2 | Nov 5, 2024 |
| Gaucher disease type I | 2 | Nov 2, 2023 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Nov 15, 2022 |
| Hereditary methemoglobinemia | 2 | Feb 17, 2024 |
| Hereditary spastic paraplegia 56 | 1 | Jul 25, 2024 |
| Hypercholesterolemia, familial, 1 | 2 | Feb 25, 2022 |
| Kleefstra syndrome | 1 | Apr 13, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 | Jun 20, 2023 |
| Lysinuric protein intolerance | 1 | Mar 6, 2022 |
| Lysosomal acid lipase deficiency | 1 | Sep 28, 2023 |
| Maturity onset diabetes mellitus in young | 1 | Apr 23, 2024 |
| Nail-patella-like renal disease | 1 | Jul 6, 2024 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 | May 21, 2024 |
| Neurofibromatosis, type 1 | 1 | Jun 2, 2022 |
| Progressive familial heart block, type 1A | 1 | Apr 10, 2024 |
| Pyruvate kinase deficiency of red cells | 1 | Jun 28, 2023 |
| Rotor syndrome | 1 | May 26, 2022 |
| Schwannomatosis 2 | 1 | Sep 28, 2023 |
| Sitosterolemia | 1 | Nov 16, 2021 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Nov 6, 2022 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | May 4, 2021 |
| Thrombophilia due to thrombin defect | 1 | Mar 6, 2022 |
| Tremor, hereditary essential, 5 | 1 | Mar 14, 2022 |
| Vitamin D-dependent rickets, type 2 | 1 | Oct 10, 2017 |
