Chinese Inherited Urolithiasis Consortium (The Affiliated Yantai Yuhuangding Hospital of Qingdao University), CUTC
General information
Personnel
- Yining Zhao, Principal Investigator
Phone: 86-15244515701
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 141
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGXT | 27 | Sep 11, 2024 |
| APRT | 1 | Sep 11, 2024 |
| CASR | 1 | Sep 11, 2024 |
| CLDN16 | 2 | Sep 11, 2024 |
| GRHPR | 12 | Sep 11, 2024 |
| HOGA1 | 22 | Sep 11, 2024 |
| IDUA | 6 | Sep 11, 2024 |
| KCNJ1 | 2 | Sep 11, 2024 |
| OXGR1 | 1 | Sep 11, 2024 |
| PREPL | 1 | Sep 11, 2024 |
| SLC26A1 | 7 | Sep 11, 2024 |
| SLC2A9 | 3 | Sep 11, 2024 |
| SLC34A1 | 1 | Sep 11, 2024 |
| SLC34A3 | 2 | Sep 11, 2024 |
| SLC3A1 | 33 | Sep 11, 2024 |
| SLC4A1 | 3 | Sep 11, 2024 |
| SLC7A9 | 22 | Sep 11, 2024 |
| XDH | 2 | Sep 11, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adenine phosphoribosyltransferase deficiency | 1 | Sep 11, 2024 |
| Autosomal dominant distal renal tubular acidosis | 3 | Sep 11, 2024 |
| Autosomal dominant hypocalcemia 1 | 1 | Sep 11, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Sep 11, 2024 |
| Bartter disease type 2 | 2 | Sep 11, 2024 |
| Cystinuria | 55 | Sep 11, 2024 |
| Hereditary xanthinuria type 1 | 2 | Sep 11, 2024 |
| Hypercalcemia, infantile, 2 | 1 | Sep 11, 2024 |
| Hypouricemia, renal, 2 | 3 | Sep 11, 2024 |
| Nephrolithiasis susceptibility caused by SLC26A1 | 7 | Sep 11, 2024 |
| Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | 1 | Sep 11, 2024 |
| Primary hyperoxaluria type 3 | 22 | Sep 11, 2024 |
| Primary hyperoxaluria, type I | 27 | Sep 11, 2024 |
| Primary hyperoxaluria, type II | 12 | Sep 11, 2024 |
| Primary hypomagnesemia | 2 | Sep 11, 2024 |