GRHPR Chromosome 9
Glyoxylate and hydroxypyruvate reductase
Upload your DNA to see your personal genotypes for variants in GRHPR.
What This Gene Does
This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
Primary hyperoxaluria
type II
Nephrolithiasis/nephrocalcinosis
GRHPR-related disorder
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Nephrocalcinosis
Nephrolithiasis
Melanoma
Sarcoma
Key Variants
RS111256477
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS113602485
Conflicting classifications of pathogenicity
Nephrolithiasis/nephrocalcinosis, Primary hyperoxaluria, type II
Health Risk
RS141800325
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis
Health Risk
RS142509393
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis
Health Risk
RS142835989
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS146227450
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis
Health Risk
RS148778319
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis
Health Risk
RS180177312
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS180177318
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS180177320
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS180177323
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Primary hyperoxaluria
Health Risk
RS185747820
Conflicting classifications of pathogenicity
Primary hyperoxaluria, type II, Nephrolithiasis/nephrocalcinosis
Health Risk
All Variants (160)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS180177316 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177319 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177321 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS1823058034 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS1823678428 | Health Risk | Pathogenic | — |
| RS2118848876 | Health Risk | Pathogenic | — |
| RS2118849212 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2118863163 | Health Risk | Pathogenic | — |
| RS2118863170 | Health Risk | Pathogenic | — |
| RS2118865591 | Health Risk | Pathogenic | — |
| RS2118880152 | Health Risk | Pathogenic | — |
| RS2489231786 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489231853 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489231928 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489232420 | Health Risk | Pathogenic | — |
| RS2489234631 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489236032 | Health Risk | Pathogenic | — |
| RS2489239934 | Health Risk | Pathogenic | — |
| RS2489239970 | Health Risk | Pathogenic | — |
| RS2489240019 | Health Risk | Pathogenic | — |
| RS2489245051 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489245598 | Health Risk | Pathogenic | — |
| RS2489245627 | Health Risk | Pathogenic | — |
| RS2489249100 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489249189 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489249374 | Health Risk | Pathogenic | — |
| RS2489258602 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS2489258701 | Health Risk | Pathogenic | — |
| RS2489258743 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS375014308 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS672601351 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS749029919 | Health Risk | Pathogenic | — |
| RS767052015 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS768530117 | Health Risk | Pathogenic | — |
| RS771019056 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS775659622 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS796052081 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS796052082 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS80356708 | Health Risk | Pathogenic | Primary hyperoxaluria, type II, Nephrocalcinosis |
| RS979727637 | Health Risk | Pathogenic | — |
| RS1057517238 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS1331106064 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS148049120 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Melanoma |
| RS1489915753 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS1564300408 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS1564300888 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177309 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177313 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177317 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |
| RS180177322 | Health Risk | Pathogenic/Likely pathogenic | Primary hyperoxaluria, type II, Primary hyperoxaluria |