Department of Genetics
(Suzhou Beikang Medical Laboratory)
General information
Department of Genetics
Suzhou Beikang Medical Laboratory
Suzhou
China - 215123
Organization ID: 509755
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 34
Gene
| Gene | Submissions | Last Updated |
|---|
| ABCA12 | 1 | Oct 31, 2024 |
| ABCA4 | 3 | Oct 31, 2024 |
| ABCB4 | 1 | Oct 31, 2024 |
| ABCG5 | 1 | Oct 31, 2024 |
| ACADM | 1 | Oct 31, 2024 |
| ADAMTS2 | 1 | Oct 31, 2024 |
| AGXT | 1 | Oct 31, 2024 |
| ALDOB | 1 | Oct 31, 2024 |
| CD46 | 1 | Oct 31, 2024 |
| DPYD | 2 | Oct 31, 2024 |
| DYNC2LI1 | 1 | Oct 31, 2024 |
| FH | 1 | Oct 31, 2024 |
| GALE | 3 | Oct 31, 2024 |
| HADHA | 1 | Oct 31, 2024 |
| HMGCL | 1 | Oct 31, 2024 |
| HMGCS2 | 1 | Oct 31, 2024 |
| LAMC2 | 2 | Oct 31, 2024 |
| LYST | 1 | Oct 31, 2024 |
| NBAS | 1 | Oct 31, 2024 |
| NTRK1 | 1 | Oct 31, 2024 |
| PEX10 | 2 | Oct 31, 2024 |
| PLOD1 | 1 | Oct 31, 2024 |
| PPT1 | 1 | Oct 31, 2024 |
| SZT2 | 1 | Oct 31, 2024 |
| UROD | 1 | Oct 31, 2024 |
| USH2A | 3 | Oct 31, 2024 |
Condition
| Name | Submissions | Last Updated | | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Oct 31, 2024 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Oct 31, 2024 |
| Autosomal recessive congenital ichthyosis 4A | 1 | Oct 31, 2024 |
| Autosomal recessive congenital ichthyosis 4B | 1 | Oct 31, 2024 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Oct 31, 2024 |
| Chédiak-Higashi syndrome | 1 | Oct 31, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Oct 31, 2024 |
| Developmental and epileptic encephalopathy, 18 | 1 | Oct 31, 2024 |
| Dihydropyrimidine dehydrogenase deficiency | 2 | Oct 31, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Oct 31, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Oct 31, 2024 |
| Epidermolysis bullosa, junctional 3A, intermediate | 2 | Oct 31, 2024 |
| Familial porphyria cutanea tarda | 1 | Oct 31, 2024 |
| Fumarase deficiency | 1 | Oct 31, 2024 |
| Hereditary fructosuria | 1 | Oct 31, 2024 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Oct 31, 2024 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Oct 31, 2024 |
| Infantile liver failure syndrome 2 | 1 | Oct 31, 2024 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 | Oct 31, 2024 |
| Low phospholipid associated cholelithiasis | 1 | Oct 31, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Oct 31, 2024 |
| Mitochondrial trifunctional protein deficiency 1 | 1 | Oct 31, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Oct 31, 2024 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 2 | Oct 31, 2024 |
| Peroxisome biogenesis disorder 6B | 2 | Oct 31, 2024 |
| Primary hyperoxaluria, type I | 1 | Oct 31, 2024 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | Oct 31, 2024 |
| Retinitis pigmentosa 39 | 3 | Oct 31, 2024 |
| Severe early-childhood-onset retinal dystrophy | 3 | Oct 31, 2024 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Oct 31, 2024 |
| Sitosterolemia 2 | 1 | Oct 31, 2024 |
| UDPglucose-4-epimerase deficiency | 3 | Oct 31, 2024 |
| Usher syndrome type 2A | 3 | Oct 31, 2024 |
