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: 121
Gene
Gene | Submissions | Last Updated |
---|
ANLN | 1 | May 9, 2021 |
APOE | 2 | May 9, 2021 |
COL4A3 | 9 | May 9, 2021 |
COL4A4 | 2 | May 9, 2021 |
COL4A5 | 31 | May 9, 2021 |
COQ8B | 5 | May 9, 2021 |
EYA1 | 6 | Dec 18, 2023 |
GLA | 1 | May 9, 2021 |
HARS2 | 2 | Mar 25, 2023 |
ITGB4 | 1 | May 9, 2021 |
KIRREL2 | 1 | May 9, 2021 |
LAMA5 | 8 | May 9, 2021 |
LARS2 | 2 | Mar 25, 2023 |
LARS2-AS1 | 2 | Mar 25, 2023 |
LOC123956210 | 2 | Apr 28, 2021 |
MFF-DT | 9 | May 9, 2021 |
MITF | 2 | Mar 27, 2021 |
NPHP3 | 1 | May 9, 2021 |
NPHP3-ACAD11 | 1 | May 9, 2021 |
NPHS1 | 2 | May 9, 2021 |
NPHS2 | 2 | May 9, 2021 |
NUP160 | 2 | May 9, 2021 |
PAX2 | 5 | May 9, 2021 |
PAX3 | 2 | Mar 27, 2021 |
POLD1 | 1 | Jul 10, 2022 |
POLR2F | 2 | Mar 27, 2021 |
POU3F4 | 2 | Oct 12, 2023 |
RMND1 | 1 | May 9, 2021 |
RPL36A-HNRNPH2 | 1 | May 9, 2021 |
SIX1 | 1 | Aug 19, 2021 |
SLC26A4 | 15 | Apr 28, 2021 |
SLC26A4-AS1 | 1 | Apr 28, 2021 |
SOX10 | 2 | Mar 27, 2021 |
TMC1 | 1 | Mar 18, 2021 |
TMEM67 | 2 | May 9, 2021 |
TRPC6 | 3 | May 9, 2021 |
TTC21B | 4 | May 9, 2021 |
TTC21B-AS1 | 1 | May 9, 2021 |
UMOD | 2 | May 9, 2021 |
WT1 | 1 | May 9, 2021 |
Condition
Name | Submissions | Last Updated | Autosomal dominant Alport syndrome | 3 | May 9, 2021 |
Autosomal recessive Alport syndrome | 8 | May 9, 2021 |
Autosomal recessive nonsyndromic hearing loss 4 | 15 | Apr 28, 2021 |
Autosomal recessive nonsyndromic hearing loss 7 | 1 | Mar 18, 2021 |
Branchiootic syndrome 1 | 6 | Dec 18, 2023 |
Branchiootic syndrome 3 | 1 | Aug 19, 2021 |
Combined oxidative phosphorylation defect type 11 | 1 | May 9, 2021 |
Epidermolysis bullosa simplex 1C, localized | 1 | May 9, 2021 |
Fabry disease | 1 | May 9, 2021 |
Familial juvenile hyperuricemic nephropathy type 1 | 2 | May 9, 2021 |
Finnish congenital nephrotic syndrome | 2 | May 9, 2021 |
Focal segmental glomerulosclerosis 2 | 3 | May 9, 2021 |
Focal segmental glomerulosclerosis 7 | 2 | May 9, 2021 |
Focal segmental glomerulosclerosis 8 | 1 | May 9, 2021 |
Lipoprotein glomerulopathy | 2 | May 9, 2021 |
Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Jul 10, 2022 |
Nephronophthisis 11 | 2 | May 9, 2021 |
Nephronophthisis 12 | 4 | May 9, 2021 |
Nephronophthisis 3 | 1 | May 9, 2021 |
Nephrotic syndrome | 8 | May 9, 2021 |
Nephrotic syndrome, type 19 | 2 | May 9, 2021 |
Nephrotic syndrome, type 2 | 2 | May 9, 2021 |
Nephrotic syndrome, type 4 | 1 | May 9, 2021 |
Nephrotic syndrome, type 9 | 5 | May 9, 2021 |
Perrault syndrome 2 | 2 | Mar 25, 2023 |
Perrault syndrome 4 | 2 | Mar 25, 2023 |
Renal coloboma syndrome | 3 | May 9, 2021 |
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 | 31 | May 9, 2021 |
X-linked mixed hearing loss with perilymphatic gusher | 2 | Oct 12, 2023 |