Precision Medicine Center
(Zhengzhou University)
General information
Precision Medicine Center
Zhengzhou University
Zhengzhou
China
Organization ID: 507840
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 221
Gene
| Gene | Submissions | Last Updated |
|---|
| ANKS6 | 4 | Dec 29, 2023 |
| ANLN | 1 | May 9, 2021 |
| APOE | 2 | May 9, 2021 |
| AXDND1 | 2 | Sep 16, 2024 |
| CFHR1 | 1 | Dec 29, 2023 |
| COL4A3 | 11 | Dec 29, 2023 |
| COL4A4 | 4 | Dec 29, 2023 |
| COL4A5 | 44 | Dec 29, 2023 |
| COQ8B | 12 | Dec 29, 2023 |
| CRB2 | 1 | Dec 29, 2023 |
| CTNS | 2 | Dec 29, 2023 |
| CTNS-AS1 | 1 | Dec 29, 2023 |
| EYA1 | 7 | Dec 29, 2023 |
| GJB6 | 1 | Jun 10, 2024 |
| GLA | 2 | Dec 29, 2023 |
| HARS2 | 2 | Mar 25, 2023 |
| ITGB4 | 1 | May 9, 2021 |
| KIRREL2 | 1 | May 9, 2021 |
| LAMA5 | 8 | May 9, 2021 |
| LAMB2 | 2 | Dec 29, 2023 |
| LARS2 | 2 | Mar 25, 2023 |
| LARS2-AS1 | 2 | Mar 25, 2023 |
| LOC107982234 | 1 | Dec 29, 2023 |
| LOC123956210 | 2 | Apr 28, 2021 |
| LOC129930446 | 2 | Dec 29, 2023 |
| MFF-DT | 11 | Dec 29, 2023 |
| MITF | 2 | Mar 27, 2021 |
| MMACHC | 2 | Dec 29, 2023 |
| NOG | 1 | May 30, 2024 |
| NPHP1 | 1 | Dec 29, 2023 |
| NPHP3 | 4 | Dec 29, 2023 |
| NPHP3-ACAD11 | 4 | Dec 29, 2023 |
| NPHP4 | 4 | Dec 29, 2023 |
| NPHS1 | 5 | Dec 29, 2023 |
| NPHS2 | 5 | Sep 16, 2024 |
| NUP107 | 2 | Dec 29, 2023 |
| NUP160 | 2 | May 9, 2021 |
| NUP93 | 3 | Sep 16, 2024 |
| PAX2 | 12 | Dec 29, 2023 |
| PAX3 | 2 | Mar 27, 2021 |
| PKHD1 | 2 | Dec 29, 2023 |
| PLCE1 | 2 | Dec 29, 2023 |
| POLD1 | 1 | Jul 10, 2022 |
| POLR2F | 2 | Mar 27, 2021 |
| POU3F4 | 2 | Oct 12, 2023 |
| RMND1 | 1 | May 9, 2021 |
| RPL36A-HNRNPH2 | 2 | Dec 29, 2023 |
| SALL1 | 2 | Dec 29, 2023 |
| SIX1 | 1 | Aug 19, 2021 |
| SLC26A4 | 21 | Jun 7, 2024 |
| SLC26A4-AS1 | 1 | Apr 28, 2021 |
| SLC34A1 | 1 | Dec 29, 2023 |
| SOX10 | 2 | Mar 27, 2021 |
| TMC1 | 1 | Mar 18, 2021 |
| TMEM67 | 2 | May 9, 2021 |
| TRPC6 | 7 | Dec 29, 2023 |
| TTC21B | 10 | Dec 29, 2023 |
| TTC21B-AS1 | 3 | Dec 29, 2023 |
| UMOD | 2 | May 9, 2021 |
| WDR19 | 2 | Dec 29, 2023 |
| WNK1 | 1 | Dec 29, 2023 |
| WT1 | 9 | Dec 29, 2023 |
Condition
| Name | Submissions | Last Updated | | Autosomal dominant Alport syndrome | 5 | Dec 29, 2023 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | Jun 10, 2024 |
| Autosomal recessive Alport syndrome | 10 | Dec 29, 2023 |
| Autosomal recessive nonsyndromic hearing loss 4 | 21 | Jun 7, 2024 |
| Autosomal recessive nonsyndromic hearing loss 7 | 1 | Mar 18, 2021 |
| Branchiootic syndrome 1 | 7 | Dec 29, 2023 |
| Branchiootic syndrome 3 | 1 | Aug 19, 2021 |
| Cobalamin C disease | 2 | Dec 29, 2023 |
| Combined oxidative phosphorylation defect type 11 | 1 | May 9, 2021 |
| Epidermolysis bullosa simplex 1C, localized | 1 | May 9, 2021 |
| Fabry disease | 2 | Dec 29, 2023 |
| Familial juvenile hyperuricemic nephropathy type 1 | 2 | May 9, 2021 |
| Finnish congenital nephrotic syndrome | 5 | Dec 29, 2023 |
| Focal segmental glomerulosclerosis 2 | 7 | Dec 29, 2023 |
| Focal segmental glomerulosclerosis 7 | 9 | Dec 29, 2023 |
| Focal segmental glomerulosclerosis 8 | 1 | May 9, 2021 |
| Focal segmental glomerulosclerosis 9 | 1 | Dec 29, 2023 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 | Dec 29, 2023 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 1 | Dec 29, 2023 |
| Lipoprotein glomerulopathy | 2 | May 9, 2021 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Jul 10, 2022 |
| Nephronophthisis 1 | 1 | Dec 29, 2023 |
| Nephronophthisis 11 | 2 | May 9, 2021 |
| Nephronophthisis 12 | 10 | Dec 29, 2023 |
| Nephronophthisis 13 | 2 | Dec 29, 2023 |
| Nephronophthisis 16 | 4 | Dec 29, 2023 |
| Nephronophthisis 3 | 4 | Dec 29, 2023 |
| Nephronophthisis 4 | 4 | Dec 29, 2023 |
| Nephropathic cystinosis | 2 | Dec 29, 2023 |
| Nephrotic syndrome | 8 | May 9, 2021 |
| Nephrotic syndrome, type 11 | 2 | Dec 29, 2023 |
| Nephrotic syndrome, type 12 | 3 | Sep 16, 2024 |
| Nephrotic syndrome, type 19 | 2 | May 9, 2021 |
| Nephrotic syndrome, type 2 | 5 | Sep 16, 2024 |
| Nephrotic syndrome, type 3 | 2 | Dec 29, 2023 |
| Nephrotic syndrome, type 4 | 9 | Dec 29, 2023 |
| Nephrotic syndrome, type 9 | 12 | Dec 29, 2023 |
| Perrault syndrome 2 | 2 | Mar 25, 2023 |
| Perrault syndrome 4 | 2 | Mar 25, 2023 |
| Pierson syndrome | 2 | Dec 29, 2023 |
| Polycystic kidney disease 4 | 2 | Dec 29, 2023 |
| Pseudohypoaldosteronism type 2C | 1 | Dec 29, 2023 |
| Renal coloboma syndrome | 3 | May 9, 2021 |
| Symphalangism-brachydactyly syndrome | 1 | May 30, 2024 |
| Townes-Brocks syndrome 1 | 2 | Dec 29, 2023 |
| Waardenburg syndrome type 1 | 2 | Mar 27, 2021 |
| Waardenburg syndrome type 2A | 2 | Mar 27, 2021 |
| Waardenburg syndrome type 2E | 2 | Mar 27, 2021 |
| X-linked Alport syndrome | 44 | Dec 29, 2023 |
| X-linked mixed hearing loss with perilymphatic gusher | 2 | Oct 12, 2023 |
