CASR (calcium sensing receptor) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CASR (calcium sensing receptor) Homo sapiens
Analyze
Symbol: CASR
Name: calcium sensing receptor
RGD ID: 10291
HGNC Page HGNC:1514
Description: Enables several functions, including amino acid binding activity; calcium ion binding activity; and protein homodimerization activity. Involved in several processes, including calcium ion import; detection of calcium ion; and intracellular calcium ion homeostasis. Located in plasma membrane. Implicated in autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); intellectual disability; and nephrolithiasis (multiple). Biomarker of atherosclerosis; end stage renal disease; and secondary hyperparathyroidism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium-sensing receptor; CAR; EIG8; extracellular calcium-sensing receptor; FHH; FIH; GPRC2A; hCasR; HHC; HHC1; HYPOC1; MGC138441; NSHPT; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptor; parathyroid cell calcium-sensing receptor 1; PCAR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: VN2R17P   VN2R18P   VN2R19P   VN2R1P   VN2R3P   VN2R6P   VN2R7P   VN2R9P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383122,183,668 - 122,291,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3122,183,668 - 122,291,629 (+)Ensemblhg38GRCh38
GRCh373121,902,515 - 122,010,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363123,385,220 - 123,488,032 (+)NCBIBuild 36Build 36hg18NCBI36
Build 343123,385,219 - 123,488,032NCBI
Celera3120,312,793 - 120,414,980 (+)NCBICelera
Cytogenetic Map3q13.33-q21.1NCBI
HuRef3119,276,062 - 119,378,878 (+)NCBIHuRef
CHM1_13121,866,087 - 121,968,904 (+)NCBICHM1_1
T2T-CHM13v2.03124,903,258 - 125,011,238 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (ISS)
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  (IDA,IEA,ISO,ISS)
anatomical structure morphogenesis  (TAS)
bile acid secretion  (IEA,ISO)
branching morphogenesis of an epithelial tube  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to hepatocyte growth factor stimulus  (IEA,ISO)
cellular response to hypoxia  (IEA,ISO)
cellular response to low-density lipoprotein particle stimulus  (IEA,ISO)
cellular response to peptide  (IEA,ISO)
cellular response to vitamin D  (IEA,ISO)
chemosensory behavior  (TAS)
chloride transmembrane transport  (IEA,ISO)
detection of calcium ion  (IBA,IDA,IEA,ISO,TAS)
fat pad development  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IDA,IEA,IMP,TAS)
intracellular calcium ion homeostasis  (IBA,IDA,IEA,ISO,TAS)
JNK cascade  (IEA,ISO)
ossification  (IEA,ISO,TAS)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IDA,IEA,ISO)
positive regulation of ATP-dependent activity  (ISO)
positive regulation of calcium ion import  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of gene expression  (IEA)
positive regulation of insulin secretion  (IEA,ISO)
positive regulation of NLRP3 inflammasome complex assembly  (IDA,ISS)
positive regulation of positive chemotaxis  (IEA,ISO)
positive regulation of vasoconstriction  (IEA,ISO)
regulation of calcium ion transport  (IBA,IEA)
regulation of presynaptic membrane potential  (IEA)
response to calcium ion  (IEA,ISO)
response to fibroblast growth factor  (IEA,ISO)
response to ischemia  (IEA,ISO)
response to metal ion  (IEA,ISO)
signal transduction  (IEA)
vasodilation  (IEA,ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating calcium-phosphate regulating hormone concentration  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormality of the parathyroid physiology  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Abnormality of urine calcium concentration  (IAGP)
Alopecia  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Arrhythmia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Breast carcinoma  (IAGP)
Calcinosis  (IAGP)
Childhood onset  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cortical myoclonus  (IAGP)
Decreased circulating parathyroid hormone level  (IAGP)
Decreased glomerular filtration rate  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Dry skin  (IAGP)
Dyspnea  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
EMG abnormality  (IAGP)
Emotional lability  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties in infancy  (IAGP)
Focal impaired awareness seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Hepatomegaly  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypermagnesemia  (IAGP)
Hypermagnesiuria  (IAGP)
Hyperparathyroidism  (IAGP)
Hyperphosphatemia  (IAGP)
Hyperphosphaturia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypocalcemia  (IAGP)
Hypocalciuria  (IAGP)
Hypokalemia  (IAGP)
Hypomagnesemia  (IAGP)
Hypophosphatemia  (IAGP)
Hypotension  (IAGP)
Hypotonia  (IAGP)
Increased circulating renin concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Increased total leukocyte count  (IAGP)
Irregular hyperpigmentation  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Laryngospasm  (IAGP)
Metaphyseal irregularity  (IAGP)
Muscle spasm  (IAGP)
Myoclonus  (IAGP)
Narrow chest  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Optic atrophy  (IAGP)
Pancreatic calcification  (IAGP)
Pancreatitis  (IAGP)
Parathyroid adenoma  (IAGP)
Paresthesia  (IAGP)
Polydipsia  (IAGP)
Polyuria  (IAGP)
Primary hyperparathyroidism  (IAGP)
Prostate cancer  (IAGP)
Recurrent fractures  (IAGP)
Recurrent pancreatitis  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced consciousness  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Splanchnic vein thrombosis  (IAGP)
Splenomegaly  (IAGP)
Tachypnea  (IAGP)
Tetany  (IAGP)
Writer's cramp  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Calcification is associated with loss of functional calcium-sensing receptor in vascular smooth muscle cells. Alam MU, etal., Cardiovasc Res. 2009 Feb 1;81(2):260-8. doi: 10.1093/cvr/cvn279. Epub 2008 Oct 13.
2. Decrease in calcium-sensing receptor in the progress of diabetic cardiomyopathy. Bai SZ, etal., Diabetes Res Clin Pract. 2012 Mar;95(3):378-85. doi: 10.1016/j.diabres.2011.11.007. Epub 2011 Dec 3.
3. The apolipoprotein E genotype predicts postprandial hypertriglyceridemia in patients with the metabolic syndrome. Cardona F, etal., J Clin Endocrinol Metab. 2005 May;90(5):2972-5. Epub 2005 Feb 15.
4. Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Chou YH, etal., Am J Hum Genet. 1995 May;56(5):1075-9.
5. A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis. Chou YH, etal., PLoS One. 2011;6(9):e25227. doi: 10.1371/journal.pone.0025227. Epub 2011 Sep 22.
6. A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. Elamin WF and de Buyl O, J Med Case Rep. 2010 Oct 29;4:349. doi: 10.1186/1752-1947-4-349.
7. The clinical significance of parathyroid tissue calcium sensing receptor gene polymorphisms and expression levels in end-stage renal disease patients. Eren PA, etal., Clin Nephrol. 2009 Aug;72(2):114-21.
8. Vitamin D receptor and calcium-sensing receptor gene polymorphisms in hypercalciuric stone-forming patients. Ferreira LG, etal., Nephron Clin Pract. 2010;114(2):c135-44. doi: 10.1159/000254386. Epub 2009 Nov 3.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Increased expression of calcium-sensing receptors in atherosclerosis confers hypersensitivity to acute myocardial infarction in rats. Guo J, etal., Mol Cell Biochem. 2012 Jul;366(1-2):345-54. doi: 10.1007/s11010-012-1312-0. Epub 2012 Apr 17.
11. Early degenerative effects of diabetes mellitus on pancreas, liver, and kidney in rats: an immunohistochemical study. Haligur M, etal., Exp Diabetes Res. 2012;2012:120645. doi: 10.1155/2012/120645. Epub 2012 Jul 11.
12. A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Hannan FM, etal., Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x.
13. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Ho C, etal., Nat Genet. 1995 Dec;11(4):389-94.
14. Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Hough TA, etal., Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13566-71. Epub 2004 Sep 3.
15. Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. Kobayashi M, etal., J Clin Endocrinol Metab. 1997 Aug;82(8):2716-9.
16. Interstitial fibrosis and microvascular disease of the heart in uremia: amelioration by a calcimimetic. Koleganova N, etal., Lab Invest. 2009 May;89(5):520-30. doi: 10.1038/labinvest.2009.7. Epub 2009 Feb 2.
17. Extracellular calcium-sensing receptor is functionally expressed in human artery. Molostvov G, etal., Am J Physiol Renal Physiol. 2007 Sep;293(3):F946-55. Epub 2007 May 30.
18. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. O'Seaghdha CM, etal., Hum Mol Genet. 2010 Nov 1;19(21):4296-303. doi: 10.1093/hmg/ddq342. Epub 2010 Aug 12.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. Pearce SH, etal., N Engl J Med. 1996 Oct 10;335(15):1115-22.
21. Calcium-sensing receptor activation of rho involves filamin and rho-guanine nucleotide exchange factor. Pi M, etal., Endocrinology. 2002 Oct;143(10):3830-8.
22. Beta-arrestin- and G protein receptor kinase-mediated calcium-sensing receptor desensitization. Pi M, etal., Mol Endocrinol. 2005 Apr;19(4):1078-87. Epub 2005 Jan 6.
23. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
24. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Pollak MR, etal., Cell. 1993 Dec 31;75(7):1297-303.
25. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Pollak MR, etal., Nat Genet. 1994 Nov;8(3):303-7.
26. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
28. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
29. Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. Scillitani A, etal., J Clin Endocrinol Metab. 2007 Jan;92(1):277-83. doi: 10.1210/jc.2006-0857. Epub 2006 Oct 3.
30. A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation. Sfar S, etal., Mol Biol Rep. 2012 Mar;39(3):2395-400. doi: 10.1007/s11033-011-0990-0. Epub 2011 Jun 12.
31. Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis. Shakhssalim N, etal., Scand J Urol Nephrol. 2010 Dec;44(6):406-12. doi: 10.3109/00365599.2010.497770. Epub 2010 Jul 5.
32. Phenotypic variation in a large family with autosomal dominant hypocalcaemia. Sorheim JI, etal., Horm Res Paediatr. 2010;74(6):399-405. doi: 10.1159/000303188. Epub 2010 May 26.
33. Biased agonism of the calcium-sensing receptor. Thomsen AR, etal., Cell Calcium. 2012 Feb;51(2):107-16. doi: 10.1016/j.ceca.2011.11.009. Epub 2011 Dec 20.
34. Rescue of the skeletal phenotype in CasR-deficient mice by transfer onto the Gcm2 null background. Tu Q, etal., J Clin Invest 2003 Apr;111(7):1029-37.
35. Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism. Vezzoli G, etal., Eur J Endocrinol. 2011 Mar;164(3):421-7. doi: 10.1530/EJE-10-0915. Epub 2010 Dec 23.
36. Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. Vezzoli G, etal., J Am Soc Nephrol. 2002 Oct;13(10):2517-23.
37. Calcium kidney stones are associated with a haplotype of the calcium-sensing receptor gene regulatory region. Vezzoli G, etal., Nephrol Dial Transplant. 2010 Jul;25(7):2245-52. doi: 10.1093/ndt/gfp760. Epub 2010 Jan 12.
38. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Watanabe S, etal., Lancet 2002 Aug 31;360(9334):692-4.
39. Effect of silencing VDR gene in kidney on renal epithelial calcium transporter proteins and urinary calcium excretion in genetic hypercalciuric stone-forming rats. Xi QL, etal., Urology. 2011 Dec;78(6):1442.e1-7. doi: 10.1016/j.urology.2011.08.051.
40. Enhanced Ca(2+)-sensing receptor function in idiopathic pulmonary arterial hypertension. Yamamura A, etal., Circ Res. 2012 Aug 3;111(4):469-81. doi: 10.1161/CIRCRESAHA.112.266361. Epub 2012 Jun 22.
41. Association of decreased calcium-sensing receptor expression with proliferation of parathyroid cells in secondary hyperparathyroidism. Yano S, etal., Kidney Int. 2000 Nov;58(5):1980-6.
42. Extracellular calcium-sensing receptor is critical in hypoxic pulmonary vasoconstriction. Zhang J, etal., Antioxid Redox Signal. 2012 Aug 1;17(3):471-84. doi: 10.1089/ars.2011.4168. Epub 2012 Jan 25.
43. Calcium-sensing receptor activating phosphorylation of PKCdelta translocation on mitochondria to induce cardiomyocyte apoptosis during ischemia/reperfusion. Zheng H, etal., Mol Cell Biochem. 2011 Dec;358(1-2):335-43. doi: 10.1007/s11010-011-0984-1. Epub 2011 Jul 16.
Additional References at PubMed
PMID:7673400   PMID:7677761   PMID:7759551   PMID:8597637   PMID:8613532   PMID:8636323   PMID:8675635   PMID:8702647   PMID:8733126   PMID:8756555   PMID:8878438   PMID:9168937  
PMID:9217223   PMID:9298824   PMID:9677383   PMID:9694886   PMID:9722601   PMID:9852126   PMID:9920108   PMID:9920407   PMID:10077597   PMID:10405337   PMID:10487661   PMID:11013439  
PMID:11095989   PMID:11108243   PMID:11161843   PMID:11248745   PMID:11390379   PMID:11390380   PMID:11489900   PMID:11589681   PMID:11668634   PMID:11762699   PMID:11863123   PMID:11889154  
PMID:11889203   PMID:11907035   PMID:11979955   PMID:11984699   PMID:12018449   PMID:12036954   PMID:12040821   PMID:12050233   PMID:12052452   PMID:12095982   PMID:12150336   PMID:12356761  
PMID:12383267   PMID:12399473   PMID:12409307   PMID:12459170   PMID:12469911   PMID:12477932   PMID:12517779   PMID:12544508   PMID:12574201   PMID:12605346   PMID:12656660   PMID:12700051  
PMID:12773131   PMID:12783889   PMID:12890593   PMID:12899245   PMID:12914574   PMID:14508624   PMID:14660633   PMID:14713274   PMID:14729680   PMID:14976203   PMID:14985373   PMID:15201280  
PMID:15219850   PMID:15239670   PMID:15472173   PMID:15489334   PMID:15501733   PMID:15531522   PMID:15551332   PMID:15572418   PMID:15579475   PMID:15591042   PMID:15598778   PMID:15613438  
PMID:15657061   PMID:15684428   PMID:15718278   PMID:15781005   PMID:15805541   PMID:15837785   PMID:15864123   PMID:15879434   PMID:15888439   PMID:15960151   PMID:16109841   PMID:16117875  
PMID:16147994   PMID:16218047   PMID:16278666   PMID:16472767   PMID:16497624   PMID:16509534   PMID:16513638   PMID:16596260   PMID:16598859   PMID:16616098   PMID:16622736   PMID:16642557  
PMID:16735501   PMID:16738533   PMID:16740430   PMID:16740594   PMID:16754659   PMID:16854379   PMID:16938272   PMID:17046587   PMID:17054460   PMID:17062884   PMID:17097611   PMID:17110864  
PMID:17122384   PMID:17124506   PMID:17132283   PMID:17138967   PMID:17284438   PMID:17309124   PMID:17310098   PMID:17320849   PMID:17331389   PMID:17332735   PMID:17372216   PMID:17374704  
PMID:17374709   PMID:17376781   PMID:17426287   PMID:17463182   PMID:17473068   PMID:17478419   PMID:17482347   PMID:17513419   PMID:17555508   PMID:17573339   PMID:17591780   PMID:17623778  
PMID:17698911   PMID:17853337   PMID:17932932   PMID:17962359   PMID:17974568   PMID:17979873   PMID:18065418   PMID:18240029   PMID:18296474   PMID:18322048   PMID:18328986   PMID:18348986  
PMID:18393231   PMID:18410554   PMID:18443236   PMID:18497443   PMID:18525093   PMID:18577758   PMID:18621740   PMID:18622738   PMID:18676680   PMID:18680227   PMID:18703641   PMID:18712808  
PMID:18751724   PMID:18756473   PMID:18796518   PMID:18843020   PMID:18938753   PMID:18980667   PMID:19011996   PMID:19035514   PMID:19038444   PMID:19058262   PMID:19066294   PMID:19073830  
PMID:19088423   PMID:19133942   PMID:19151705   PMID:19157541   PMID:19170196   PMID:19179454   PMID:19237714   PMID:19245366   PMID:19257819   PMID:19285978   PMID:19328421   PMID:19350667  
PMID:19389809   PMID:19397786   PMID:19423559   PMID:19432691   PMID:19453261   PMID:19456861   PMID:19471101   PMID:19474519   PMID:19580466   PMID:19621386   PMID:19625176   PMID:19690432  
PMID:19692168   PMID:19695239   PMID:19706842   PMID:19716891   PMID:19789209   PMID:19839774   PMID:19912241   PMID:19913121   PMID:19915295   PMID:20034274   PMID:20130845   PMID:20164288  
PMID:20237496   PMID:20361938   PMID:20364112   PMID:20421307   PMID:20424473   PMID:20457124   PMID:20558521   PMID:20558539   PMID:20595056   PMID:20628086   PMID:20631026   PMID:20634891  
PMID:20648625   PMID:20654748   PMID:20661308   PMID:20668040   PMID:20697181   PMID:20798521   PMID:20826781   PMID:20966218   PMID:21048031   PMID:21082232   PMID:21084311   PMID:21130730  
PMID:21187282   PMID:21209619   PMID:21240254   PMID:21316481   PMID:21317879   PMID:21340433   PMID:21369680   PMID:21393549   PMID:21414629   PMID:21441391   PMID:21521328   PMID:21532883  
PMID:21566074   PMID:21566075   PMID:21645025   PMID:21843504   PMID:21873635   PMID:21965686   PMID:22010828   PMID:22024717   PMID:22094462   PMID:22107799   PMID:22144504   PMID:22158862  
PMID:22187299   PMID:22192860   PMID:22210744   PMID:22278364   PMID:22315359   PMID:22403735   PMID:22422767   PMID:22424352   PMID:22449852   PMID:22577108   PMID:22789683   PMID:22798347  
PMID:23009664   PMID:23103379   PMID:23108190   PMID:23125333   PMID:23169696   PMID:23228129   PMID:23247143   PMID:23269116   PMID:23271661   PMID:23287098   PMID:23300272   PMID:23334987  
PMID:23372019   PMID:23533647   PMID:23552627   PMID:23555732   PMID:23569134   PMID:23639611   PMID:23674327   PMID:23740560   PMID:23756480   PMID:23764372   PMID:23817301   PMID:23856265  
PMID:23860708   PMID:23864702   PMID:23913941   PMID:23917029   PMID:23946278   PMID:23966241   PMID:24013548   PMID:24068962   PMID:24098349   PMID:24101400   PMID:24120622   PMID:24133354  
PMID:24217682   PMID:24238055   PMID:24244430   PMID:24264723   PMID:24297799   PMID:24336654   PMID:24454825   PMID:24455835   PMID:24481145   PMID:24517148   PMID:24559921   PMID:24584713  
PMID:24624459   PMID:24691920   PMID:24770445   PMID:24832896   PMID:24842051   PMID:24854525   PMID:24905090   PMID:24930987   PMID:24947037   PMID:24948534   PMID:25019182   PMID:25039540  
PMID:25063217   PMID:25069966   PMID:25080008   PMID:25091521   PMID:25104082   PMID:25124570   PMID:25134967   PMID:25270285   PMID:25292184   PMID:25305020   PMID:25331955   PMID:25365856  
PMID:25382680   PMID:25401741   PMID:25420019   PMID:25631355   PMID:25695075   PMID:25701758   PMID:25701780   PMID:25705702   PMID:25758239   PMID:25766501   PMID:25786244   PMID:25904744  
PMID:25910996   PMID:25972035   PMID:25977473   PMID:25986659   PMID:26107257   PMID:26153034   PMID:26158657   PMID:26166472   PMID:26252839   PMID:26303192   PMID:26317416   PMID:26332755  
PMID:26386835   PMID:26431875   PMID:26436544   PMID:26654249   PMID:26665756   PMID:26688334   PMID:26709005   PMID:26710757   PMID:26764418   PMID:26855056   PMID:26911344   PMID:26968768  
PMID:26994139   PMID:27002221   PMID:27050483   PMID:27108064   PMID:27115058   PMID:27206800   PMID:27391973   PMID:27434672   PMID:27452962   PMID:27477783   PMID:27510541   PMID:27565442  
PMID:27613866   PMID:27663953   PMID:27666534   PMID:27739473   PMID:27760455   PMID:27770255   PMID:27862333   PMID:27872158   PMID:27926951   PMID:27965733   PMID:28176280   PMID:28263480  
PMID:28284102   PMID:28284837   PMID:28419469   PMID:28506888   PMID:28575322   PMID:28609763   PMID:28620806   PMID:28630081   PMID:28676564   PMID:28741586   PMID:28764683   PMID:28765616  
PMID:28791397   PMID:28941288   PMID:28951460   PMID:29019102   PMID:29345311   PMID:29348484   PMID:29348629   PMID:29379093   PMID:29387985   PMID:29463778   PMID:29504802   PMID:29589297  
PMID:29632324   PMID:29682741   PMID:29763933   PMID:29848507   PMID:29915064   PMID:30052933   PMID:30251678   PMID:30320381   PMID:30407299   PMID:30624783   PMID:30659265   PMID:30769016  
PMID:30865840   PMID:31126710   PMID:31189667   PMID:31399503   PMID:31433865   PMID:31619668   PMID:31650467   PMID:31775661   PMID:31778168   PMID:31874167   PMID:31926993   PMID:32061345  
PMID:32160303   PMID:32186932   PMID:32530995   PMID:32572426   PMID:32609827   PMID:32621171   PMID:32648293   PMID:32817431   PMID:32843625   PMID:32861746   PMID:32871939   PMID:33076271  
PMID:33259138   PMID:33340048   PMID:33394231   PMID:33603117   PMID:33640382   PMID:33647324   PMID:33845096   PMID:33926258   PMID:34077389   PMID:34160437   PMID:34194040   PMID:34204449  
PMID:34239069   PMID:34272844   PMID:34444650   PMID:34446336   PMID:34467854   PMID:34481716   PMID:34504264   PMID:34576291   PMID:34772415   PMID:35016442   PMID:35477244   PMID:35546405  
PMID:35932760   PMID:36088585   PMID:36536367   PMID:36585523   PMID:36626889   PMID:36755240   PMID:36786422   PMID:36812896   PMID:37060830   PMID:37511437   PMID:37532498   PMID:37712273  
PMID:37802982   PMID:37837817   PMID:37991948   PMID:38285634   PMID:38326620   PMID:38561929   PMID:38632411   PMID:38780484   PMID:38886300   PMID:39000274   PMID:39146692   PMID:39243411  


Genomics

Comparative Map Data
CASR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383122,183,668 - 122,291,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3122,183,668 - 122,291,629 (+)Ensemblhg38GRCh38
GRCh373121,902,515 - 122,010,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363123,385,220 - 123,488,032 (+)NCBIBuild 36Build 36hg18NCBI36
Build 343123,385,219 - 123,488,032NCBI
Celera3120,312,793 - 120,414,980 (+)NCBICelera
Cytogenetic Map3q13.33-q21.1NCBI
HuRef3119,276,062 - 119,378,878 (+)NCBIHuRef
CHM1_13121,866,087 - 121,968,904 (+)NCBICHM1_1
T2T-CHM13v2.03124,903,258 - 125,011,238 (+)NCBIT2T-CHM13v2.0
Casr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391636,310,947 - 36,382,605 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1636,314,058 - 36,382,503 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381636,490,585 - 36,562,141 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1636,493,696 - 36,562,141 (-)Ensemblmm10GRCm38
MGSCv371636,493,782 - 36,562,220 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361636,412,935 - 36,481,373 (-)NCBIMGSCv36mm8
Celera1636,909,014 - 36,977,753 (-)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1625.57NCBI
Casr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81177,738,398 - 77,813,639 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1177,740,614 - 77,810,167 (+)EnsemblGRCr8
mRatBN7.21164,235,251 - 64,304,811 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1164,235,251 - 64,304,811 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1173,047,649 - 73,119,237 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01165,709,872 - 65,781,465 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01164,740,787 - 64,812,771 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01167,188,204 - 67,262,261 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1167,188,630 - 67,258,771 (+)Ensemblrn6Rnor6.0
Rnor_5.01170,278,784 - 70,352,137 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41166,084,169 - 66,153,292 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1163,705,377 - 63,774,888 (+)NCBICelera
RGSC_v3.11166,141,757 - 66,210,881 (-)NCBI
Cytogenetic Map11q22NCBI
Casr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542721,486,427 - 21,575,210 (+)Ensembl
ChiLan1.0NW_00495542721,486,608 - 21,574,017 (+)NCBIChiLan1.0ChiLan1.0
CASR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22120,132,419 - 120,238,779 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13120,137,198 - 120,243,558 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03119,278,071 - 119,383,901 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13126,252,765 - 126,285,268 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3126,252,765 - 126,285,268 (+)EnsemblpanPan2panpan1.1
CASR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13325,340,822 - 25,432,814 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3325,405,846 - 25,432,559 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3325,430,838 - 25,457,295 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03325,575,807 - 25,668,548 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3325,592,410 - 25,668,339 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13325,439,049 - 25,465,515 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03325,481,863 - 25,508,587 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03326,039,992 - 26,066,527 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Casr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602128,921,650 - 128,996,645 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365368,574,064 - 8,599,454 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365368,574,064 - 8,599,446 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13138,280,364 - 138,364,252 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.113138,279,785 - 138,364,934 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213147,907,312 - 147,991,214 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CASR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12258,579,640 - 58,612,142 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2258,578,396 - 58,604,756 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666041107,618,566 - 107,763,120 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624912485,258 - 614,656 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624912485,252 - 613,572 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in CASR
2887 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000388.4(CASR):c.1370C>T (p.Ala457Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000528832]|not provided [RCV004767357] Chr3:122262405 [GRCh38]
Chr3:121981252 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483414]|Familial hypocalciuric hypercalcemia [RCV000524604]|Nephrolithiasis/nephrocalcinosis [RCV004023965]|not provided [RCV001770431]|not specified [RCV003320679] Chr3:122254229 [GRCh38]
Chr3:121973076 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2985G>C (p.Gln995His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231742]|Nephrolithiasis/nephrocalcinosis [RCV004023959] Chr3:122284939 [GRCh38]
Chr3:122003786 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1297G>C (p.Asp433His) single nucleotide variant CASR-related disorder [RCV004554798]|Familial hypocalciuric hypercalcemia 1 [RCV002476144]|Familial hypocalciuric hypercalcemia 1 [RCV003448320]|Familial hypocalciuric hypercalcemia [RCV002231730]|Nephrolithiasis/nephrocalcinosis [RCV004023931] Chr3:122262332 [GRCh38]
Chr3:121981179 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.845A>G (p.Glu282Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000545591]|Nephrolithiasis/nephrocalcinosis [RCV004023971]|not provided [RCV002223862] Chr3:122261880 [GRCh38]
Chr3:121980727 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002527461]|not specified [RCV000518668] Chr3:122284473 [GRCh38]
Chr3:122003320 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1305T>C (p.Tyr435=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231731]|Nephrolithiasis/nephrocalcinosis [RCV004023932] Chr3:122262340 [GRCh38]
Chr3:121981187 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1179C>T (p.Pro393=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000547673] Chr3:122262214 [GRCh38]
Chr3:121981061 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034096]|Familial hypocalciuric hypercalcemia [RCV002231380] Chr3:122284599 [GRCh38]
Chr3:122003446 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1942C>A (p.Arg648=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000526361]|Nephrolithiasis/nephrocalcinosis [RCV004023943] Chr3:122283896 [GRCh38]
Chr3:122002743 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231743]|Nephrolithiasis/nephrocalcinosis [RCV004023960] Chr3:122284950 [GRCh38]
Chr3:122003797 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002491010]|Familial hypocalciuric hypercalcemia [RCV000544351]|Nephrolithiasis/nephrocalcinosis [RCV004023927]|not provided [RCV003144333] Chr3:122262179 [GRCh38]
Chr3:121981026 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000527239]|Nephrolithiasis/nephrocalcinosis [RCV004023956] Chr3:122284638 [GRCh38]
Chr3:122003485 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231378]|Nephrolithiasis/nephrocalcinosis [RCV004023934] Chr3:122275934 [GRCh38]
Chr3:121994781 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029440]|not provided [RCV000478953] Chr3:122284197 [GRCh38]
Chr3:122003044 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4:c.2628_2629insAlu insertion Familial hypocalciuric hypercalcemia 1 [RCV000008816]|Neonatal severe primary hyperparathyroidism [RCV000008817] Chr3:3q13.3-q21 pathogenic
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) indel Neonatal severe primary hyperparathyroidism [RCV000008820] Chr3:122284195..122284196 [GRCh38]
Chr3:122003042..122003043 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) single nucleotide variant CASR-related disorder [RCV004554588]|Familial hypocalciuric hypercalcemia 1 [RCV000008833]|Familial hypocalciuric hypercalcemia 1 [RCV002496308]|Familial hypocalciuric hypercalcemia [RCV000524505]|Familial hypocalciuric hypercalcemia [RCV002265551]|Nephrolithiasis/nephrocalcinosis [RCV004018593]|not provided [RCV000516668] Chr3:122261715 [GRCh38]
Chr3:121980562 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) deletion Autosomal dominant hypocalcemia 1 [RCV000008841] Chr3:122284636..122285178 [GRCh38]
Chr3:122003478..122004020 [GRCh37]
Chr3:3q13.3-q21		 pathogenic
NM_000388.4(CASR):c.186-1G>T single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008845]|Familial hypocalciuric hypercalcemia [RCV001390066]|Nephrolithiasis/nephrocalcinosis [RCV004018597] Chr3:122257080 [GRCh38]
Chr3:121975927 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2658G>A (p.Arg886=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001494048]|Nephrolithiasis/nephrocalcinosis [RCV004037335] Chr3:122284612 [GRCh38]
Chr3:122003459 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.*34AG[2] microsatellite not specified [RCV003320999] Chr3:122285225..122285226 [GRCh38]
Chr3:122004072..122004073 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.453G>A (p.Thr151=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639434]|Nephrolithiasis/nephrocalcinosis [RCV004025546] Chr3:122257348 [GRCh38]
Chr3:121976195 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.323T>C (p.Leu108Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232606] Chr3:122257218 [GRCh38]
Chr3:121976065 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.553C>A (p.Arg185=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639438]|Nephrolithiasis/nephrocalcinosis [RCV004025547] Chr3:122261588 [GRCh38]
Chr3:121980435 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2255G>A (p.Arg752His) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001147999]|Familial hypocalciuric hypercalcemia 1 [RCV001147997]|Familial hypocalciuric hypercalcemia 1 [RCV005034214]|Familial hypocalciuric hypercalcemia [RCV000639441]|Familial hypoparathyroidism [RCV001148000]|Neonatal severe primary hyperparathyroidism [RCV001147998]|Nephrolithiasis/nephrocalcinosis [RCV004025549] Chr3:122284209 [GRCh38]
Chr3:122003056 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232612] Chr3:122284818 [GRCh38]
Chr3:122003665 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2597G>A (p.Arg866His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639460]|Nephrolithiasis/nephrocalcinosis [RCV004025558]|not provided [RCV005000423] Chr3:122284551 [GRCh38]
Chr3:122003398 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.341T>C (p.Phe114Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233474] Chr3:122257236 [GRCh38]
Chr3:121976083 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639469]|Nephrolithiasis/nephrocalcinosis [RCV004025562] Chr3:122284539 [GRCh38]
Chr3:122003386 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.2076C>T (p.Ile692=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232784] Chr3:122284030 [GRCh38]
Chr3:122002877 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1116C>T (p.Thr372=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002507089]|Familial hypocalciuric hypercalcemia [RCV000639480]|Nephrolithiasis/nephrocalcinosis [RCV004025567] Chr3:122262151 [GRCh38]
Chr3:121980998 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.309C>T (p.Thr103=) single nucleotide variant CASR-related disorder [RCV004554816]|Familial hypocalciuric hypercalcemia [RCV000639481]|Nephrolithiasis/nephrocalcinosis [RCV004025568] Chr3:122257204 [GRCh38]
Chr3:121976051 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.375T>G (p.Leu125=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639484]|Nephrolithiasis/nephrocalcinosis [RCV004025569] Chr3:122257270 [GRCh38]
Chr3:121976117 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1539C>T (p.Val513=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232618]|Nephrolithiasis/nephrocalcinosis [RCV004025570] Chr3:122275973 [GRCh38]
Chr3:121994820 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1398T>C (p.His466=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639493]|Nephrolithiasis/nephrocalcinosis [RCV004025577] Chr3:122275832 [GRCh38]
Chr3:121994679 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1459G>A (p.Gly487Arg) single nucleotide variant not provided [RCV000722840] Chr3:122275893 [GRCh38]
Chr3:121994740 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2101del (p.Arg701fs) deletion not provided [RCV000517673] Chr3:122284054 [GRCh38]
Chr3:122002901 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1609-27C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003768258]|not provided [RCV005251208] Chr3:122282086 [GRCh38]
Chr3:122000933 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.823_824del (p.Asp275fs) deletion not provided [RCV000516736] Chr3:122261857..122261858 [GRCh38]
Chr3:121980704..121980705 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.888C>T (p.Ser296=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027900]|Familial hypocalciuric hypercalcemia [RCV001868935]|Nephrolithiasis/nephrocalcinosis [RCV004026952]|not provided [RCV000728736] Chr3:122261923 [GRCh38]
Chr3:121980770 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs) indel CASR-related disorder [RCV004554917] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483415]|Familial hypocalciuric hypercalcemia [RCV000545814]|Nephrolithiasis/nephrocalcinosis [RCV004023969]|not provided [RCV001357374]|not specified [RCV003387878] Chr3:122261814 [GRCh38]
Chr3:121980661 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2343C>T (p.Cys781=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003153705] Chr3:122284297 [GRCh38]
Chr3:122003144 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483412]|Familial hypocalciuric hypercalcemia [RCV000525289]|Nephrolithiasis/nephrocalcinosis [RCV004023945] Chr3:122284010 [GRCh38]
Chr3:122002857 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002491011]|Familial hypocalciuric hypercalcemia [RCV002231738]|Nephrolithiasis/nephrocalcinosis [RCV004023955] Chr3:122284634 [GRCh38]
Chr3:122003481 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+10C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000528867] Chr3:122257397 [GRCh38]
Chr3:121976244 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1014T>C (p.His338=) single nucleotide variant CASR-related disorder [RCV004554797]|Familial hypocalciuric hypercalcemia [RCV002231376]|Nephrolithiasis/nephrocalcinosis [RCV004023924] Chr3:122262049 [GRCh38]
Chr3:121980896 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.377A>T (p.Asp126Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003766913]|not specified [RCV000517968] Chr3:122257272 [GRCh38]
Chr3:121976119 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.78C>T (p.Ala26=) single nucleotide variant CASR-related disorder [RCV004554804]|Familial hypocalciuric hypercalcemia [RCV000552276]|Nephrolithiasis/nephrocalcinosis [RCV004023970] Chr3:122254267 [GRCh38]
Chr3:121973114 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.262C>T (p.Leu88Phe) single nucleotide variant not specified [RCV000516422] Chr3:122257157 [GRCh38]
Chr3:121976004 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1449T>G (p.Gly483=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001494073]|Nephrolithiasis/nephrocalcinosis [RCV004037336] Chr3:122275883 [GRCh38]
Chr3:121994730 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1638C>T (p.Cys546=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000530656]|Nephrolithiasis/nephrocalcinosis [RCV004023938] Chr3:122282142 [GRCh38]
Chr3:122000989 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2571C>T (p.Ile857=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000550262]|Nephrolithiasis/nephrocalcinosis [RCV004023953] Chr3:122284525 [GRCh38]
Chr3:122003372 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1765T>G (p.Phe589Val) single nucleotide variant not specified [RCV000517200] Chr3:122283719 [GRCh38]
Chr3:122002566 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1510G>A (p.Val504Met) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV005357582]|Familial hypocalciuric hypercalcemia 1 [RCV002476145]|Familial hypocalciuric hypercalcemia [RCV000531852]|Nephrolithiasis/nephrocalcinosis [RCV004023935]|not specified [RCV003987594] Chr3:122275944 [GRCh38]
Chr3:121994791 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001851427]|not provided [RCV000517605] Chr3:122261742 [GRCh38]
Chr3:121980589 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) single nucleotide variant CASR-related disorder [RCV004758703]|Familial hypocalciuric hypercalcemia [RCV000546736]|Nephrolithiasis/nephrocalcinosis [RCV004023936] Chr3:122276007 [GRCh38]
Chr3:121994854 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213315]|Nephrolithiasis/nephrocalcinosis [RCV004023501]|not provided [RCV003482264] Chr3:122257365 [GRCh38]
Chr3:121976212 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008815]|Familial hypocalciuric hypercalcemia 1 [RCV002482842]|Familial hypocalciuric hypercalcemia [RCV001060775]|not provided [RCV000489583] Chr3:122257275 [GRCh38]
Chr3:121976122 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001199039]|Familial hypocalciuric hypercalcemia 1 [RCV000008810]|Familial hypocalciuric hypercalcemia [RCV000793559]|Primary hyperparathyroidism [RCV005241233]|not provided [RCV000517736] Chr3:122284337 [GRCh38]
Chr3:122003184 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008811]|Familial hypocalciuric hypercalcemia [RCV002228021]|Neonatal severe primary hyperparathyroidism [RCV000008812] Chr3:122261924 [GRCh38]
Chr3:121980771 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) single nucleotide variant CASR-related disorder [RCV004554586]|Familial hypocalciuric hypercalcemia 1 [RCV000008813]|Familial hypocalciuric hypercalcemia 1 [RCV002496307]|Familial hypocalciuric hypercalcemia [RCV000627760]|Familial hypocalciuric hypercalcemia [RCV001804716]|Neonatal severe primary hyperparathyroidism [RCV000008814]|not provided [RCV000412784] Chr3:122261589 [GRCh38]
Chr3:121980436 [GRCh37]
Chr3:3q21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) single nucleotide variant CASR-related disorder [RCV004554587]|Familial hypocalciuric hypercalcemia [RCV001384282]|Neonatal severe primary hyperparathyroidism [RCV000008818]|not provided [RCV004791198] Chr3:122261715 [GRCh38]
Chr3:121980562 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000477640]|Neonatal severe primary hyperparathyroidism [RCV000008819] Chr3:122283699 [GRCh38]
Chr3:122002546 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2043G>T (p.Gln681His) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008821] Chr3:122283997 [GRCh38]
Chr3:122002844 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008822]|Nephrolithiasis/nephrocalcinosis [RCV004991967]|not provided [RCV001818146] Chr3:122257241 [GRCh38]
Chr3:121976088 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008823]|Familial hypocalciuric hypercalcemia [RCV002512921] Chr3:122284371 [GRCh38]
Chr3:122003218 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.452C>T (p.Thr151Met) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008824]|Familial hypocalciuric hypercalcemia [RCV001851746]|not provided [RCV001818147] Chr3:122257347 [GRCh38]
Chr3:121976194 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.354C>A (p.Asn118Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008825] Chr3:122257249 [GRCh38]
Chr3:121976096 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.382T>C (p.Phe128Leu) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008827]|CASR-related disorder [RCV004758591] Chr3:122257277 [GRCh38]
Chr3:121976124 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008828]|Familial hypocalciuric hypercalcemia 1 [RCV005025034] Chr3:122261606 [GRCh38]
Chr3:121980453 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008829]|Nephrolithiasis/nephrocalcinosis [RCV004018592] Chr3:122283789 [GRCh38]
Chr3:122002636 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008830] Chr3:122284272 [GRCh38]
Chr3:122003119 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) single nucleotide variant Neonatal severe primary hyperparathyroidism [RCV000008831] Chr3:122283963 [GRCh38]
Chr3:122002810 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.115C>G (p.Pro39Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008832] Chr3:122254304 [GRCh38]
Chr3:121973151 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.413C>T (p.Thr138Met) single nucleotide variant CASR-related disorder [RCV004554589]|Familial hypocalciuric hypercalcemia 1 [RCV000008834]|Familial hypocalciuric hypercalcemia 1 [RCV002476947]|Familial hypocalciuric hypercalcemia [RCV002228022]|Nephrolithiasis/nephrocalcinosis [RCV004018594]|not provided [RCV003480025] Chr3:122257308 [GRCh38]
Chr3:121976155 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008835]|Familial hypocalciuric hypercalcemia [RCV000549803]|Familial hypocalciuric hypercalcemia [RCV002271366]|not provided [RCV000498830] Chr3:122257323 [GRCh38]
Chr3:121976170 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.185G>T (p.Arg62Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008836] Chr3:122254374 [GRCh38]
Chr3:121973221 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008837]|Familial hypocalciuric hypercalcemia 1 [RCV005025035]|Familial hypocalciuric hypercalcemia [RCV001851747]|Familial hypocalciuric hypercalcemia [RCV003398474]|not provided [RCV000498645] Chr3:122257091 [GRCh38]
Chr3:121975938 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008838]|Familial hypocalciuric hypercalcemia [RCV001851748]|Nephrolithiasis/nephrocalcinosis [RCV004018595] Chr3:122284317 [GRCh38]
Chr3:122003164 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.141A>C (p.Lys47Asn) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008839] Chr3:122254330 [GRCh38]
Chr3:121973177 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1846C>G (p.Leu616Val) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008840] Chr3:122283800 [GRCh38]
Chr3:122002647 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008842]|Familial hypocalciuric hypercalcemia [RCV000549191] Chr3:122284595 [GRCh38]
Chr3:122003442 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008843]|Familial hypocalciuric hypercalcemia [RCV003764537]|Neonatal severe primary hyperparathyroidism [RCV000054484]|Nephrolithiasis/nephrocalcinosis [RCV004018596] Chr3:122283896 [GRCh38]
Chr3:122002743 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000054480]|Bartter syndrome with hypocalcemia [RCV000008847] Chr3:122284482 [GRCh38]
Chr3:122003329 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.393C>G (p.Cys131Trp) single nucleotide variant Bartter syndrome with hypocalcemia [RCV000008849]|Nephrolithiasis/nephrocalcinosis [RCV004018598] Chr3:122257288 [GRCh38]
Chr3:121976135 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025036]|Familial hypocalciuric hypercalcemia [RCV001040159]|Neonatal severe primary hyperparathyroidism [RCV000008850] Chr3:122261588 [GRCh38]
Chr3:121980435 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008851]|Bartter syndrome with hypocalcemia [RCV000190877]|Familial hypocalciuric hypercalcemia 1 [RCV002482843]|Familial hypocalciuric hypercalcemia [RCV003764538]|not provided [RCV001781207] Chr3:122257269 [GRCh38]
Chr3:121976116 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008852] Chr3:122284413 [GRCh38]
Chr3:122003260 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008853] Chr3:122284316 [GRCh38]
Chr3:122003163 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000356249]|Familial hypocalciuric hypercalcemia 1 [RCV000343555]|Familial hypocalciuric hypercalcemia [RCV001510800]|Familial hypoparathyroidism [RCV000405678]|Malignant tumor of breast [RCV001269361]|Neonatal severe primary hyperparathyroidism [RCV000299158]|Nephrolithiasis/nephrocalcinosis [RCV004018599]|Serum calcium level [RCV000008854]|not provided [RCV004715641]|not specified [RCV000152933] Chr3:122284910 [GRCh38]
Chr3:122284910..122284911 [GRCh38]
Chr3:122003757 [GRCh37]
Chr3:122003757..122003758 [GRCh37]
Chr3:3q21.1		 pathogenic|association|benign
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008855]|Autosomal dominant hypocalcemia [RCV001804717]|CASR-related disorder [RCV004554590]|Familial hypocalciuric hypercalcemia 1 [RCV005025037]|Familial hypocalciuric hypercalcemia [RCV001851749]|Nephrolithiasis/nephrocalcinosis [RCV003343599]|not provided [RCV000414467] Chr3:122283764 [GRCh38]
Chr3:122002611 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) single nucleotide variant Neonatal severe primary hyperparathyroidism [RCV000008856] Chr3:122257175 [GRCh38]
Chr3:121976022 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008857]|Familial hypocalciuric hypercalcemia 1 [RCV005025038]|Familial hypocalciuric hypercalcemia [RCV000459271]|Nephrolithiasis/nephrocalcinosis [RCV004018600]|not provided [RCV003482226] Chr3:122275828 [GRCh38]
Chr3:121994675 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.38T>C (p.Leu13Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008858]|Nephrolithiasis/nephrocalcinosis [RCV004018601] Chr3:122254227 [GRCh38]
Chr3:121973074 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000008859] Chr3:122284134 [GRCh38]
Chr3:122002981 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.539T>G (p.Phe180Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008860] Chr3:122261574 [GRCh38]
Chr3:121980421 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008861] Chr3:122283699 [GRCh38]
Chr3:122002546 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000008862]|not provided [RCV003320545] Chr3:122282161 [GRCh38]
Chr3:122001008 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.3(CASR):c.680G>A (p.Arg227Gln) single nucleotide variant Familial benign hypercalcemia [RCV000008863]|Hypocalciuric hypercalcemia, familial, type 1 [RCV000008863] Chr3:122261715 [GRCh38]
Chr3:121980562 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 8 [RCV000008864]|Familial hypocalciuric hypercalcemia 1 [RCV002476948]|Familial hypocalciuric hypercalcemia [RCV000687562]|Nephrolithiasis/nephrocalcinosis [RCV004018602] Chr3:122284647 [GRCh38]
Chr3:122003494 [GRCh37]
Chr3:3q21.1		 risk factor|uncertain significance
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000404942]|Familial hypocalciuric hypercalcemia 1 [RCV001094836]|Familial hypocalciuric hypercalcemia [RCV000029428]|Familial hypocalciuric hypercalcemia [RCV000470150]|Familial hypoparathyroidism [RCV000335184]|Neonatal severe primary hyperparathyroidism [RCV000287145]|Nephrolithiasis/nephrocalcinosis [RCV004018679]|not provided [RCV004710445]|not specified [RCV000177055] Chr3:122262368 [GRCh38]
Chr3:121981215 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs) deletion Familial hypocalciuric hypercalcemia [RCV000029429] Chr3:122275945..122275948 [GRCh38]
Chr3:121994792..121994795 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029430]|Familial hypocalciuric hypercalcemia [RCV001070010]|not provided [RCV001659729] Chr3:122275959 [GRCh38]
Chr3:121994806 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.166del (p.Glu56fs) deletion Familial hypocalciuric hypercalcemia [RCV000029431]|Familial hypocalciuric hypercalcemia [RCV001852588] Chr3:122254354 [GRCh38]
Chr3:121973201 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1676C>A (p.Pro559His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029432] Chr3:122282180 [GRCh38]
Chr3:122001027 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029433] Chr3:122282189 [GRCh38]
Chr3:122001036 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) indel Familial hypocalciuric hypercalcemia [RCV000029434]|Familial hypocalciuric hypercalcemia [RCV002295274] Chr3:122282189..122282190 [GRCh38]
Chr3:122001036..122001037 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1686C>T (p.Cys562=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029435] Chr3:122282190 [GRCh38]
Chr3:122001037 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1884del (p.Phe629fs) deletion Familial hypocalciuric hypercalcemia [RCV000029436] Chr3:122283837 [GRCh38]
Chr3:122002684 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) single nucleotide variant Familial hypoparathyroidism [RCV000029437] Chr3:122283888 [GRCh38]
Chr3:122002735 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029438]|Familial hypocalciuric hypercalcemia [RCV003764636] Chr3:122283968 [GRCh38]
Chr3:122002815 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.206G>A (p.Arg69His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002247396]|Familial hypocalciuric hypercalcemia [RCV000465400]|Neonatal severe primary hyperparathyroidism [RCV000029439]|Nephrolithiasis/nephrocalcinosis [RCV004601088]|not provided [RCV000518959] Chr3:122257101 [GRCh38]
Chr3:121975948 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002228056]|Familial hypocalciuric hypercalcemia [RCV005246593]|not provided [RCV001753429]|not specified [RCV000029442] Chr3:122284208 [GRCh38]
Chr3:122003055 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029443] Chr3:122284389 [GRCh38]
Chr3:122003236 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) single nucleotide variant not provided [RCV001818185]|not specified [RCV003387728] Chr3:122284443 [GRCh38]
Chr3:122003290 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029445] Chr3:122284598 [GRCh38]
Chr3:122003445 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2686del (p.Arg896fs) deletion Familial hypocalciuric hypercalcemia [RCV001731316]|Familial hypocalciuric hypercalcemia [RCV001852589] Chr3:122284638 [GRCh38]
Chr3:122003485 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025081]|Familial hypocalciuric hypercalcemia [RCV001215841]|Neonatal severe primary hyperparathyroidism [RCV003387729]|Nephrolithiasis/nephrocalcinosis [RCV004018680]|not specified [RCV004700283] Chr3:122257164 [GRCh38]
Chr3:121976011 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029448]|Familial hypocalciuric hypercalcemia [RCV002054482]|Nephrolithiasis/nephrocalcinosis [RCV004018681] Chr3:122285017 [GRCh38]
Chr3:122003864 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000987315]|Familial hypocalciuric hypercalcemia [RCV001085495]|Nephrolithiasis/nephrocalcinosis [RCV004018682]|not specified [RCV000503233] Chr3:122285045 [GRCh38]
Chr3:122003892 [GRCh37]
Chr3:3q21.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029450]|not provided [RCV000429931] Chr3:122257275 [GRCh38]
Chr3:121976122 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.492+19G>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001554695]|Familial hypocalciuric hypercalcemia 1 [RCV001554696]|Familial hypocalciuric hypercalcemia [RCV000029451]|Familial hypocalciuric hypercalcemia [RCV001519670]|Neonatal severe primary hyperparathyroidism [RCV001554694]|not provided [RCV000710098]|not specified [RCV000078686] Chr3:122257406 [GRCh38]
Chr3:121976253 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002228057]|Familial hypocalciuric hypercalcemia [RCV005411299]|Nephrolithiasis/nephrocalcinosis [RCV004601089]|not specified [RCV000029452] Chr3:122261531 [GRCh38]
Chr3:121980378 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.554del (p.Arg185fs) deletion Familial hypocalciuric hypercalcemia [RCV000029453]|Familial hypocalciuric hypercalcemia [RCV002513240]|not provided [RCV002472936] Chr3:122261589 [GRCh38]
Chr3:121980436 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.643G>C (p.Asp215His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029454] Chr3:122261678 [GRCh38]
Chr3:121980525 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.974G>A (p.Gly325Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029455]|Hypercalcemia [RCV005234797] Chr3:122262009 [GRCh38]
Chr3:121980856 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.3(CASR):c.-242-28553A>T single nucleotide variant Lung cancer [RCV000092867] Chr3:122225395 [GRCh38]
Chr3:121944242 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2		 pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2		 pathogenic
NM_000388.4(CASR):c.78C>G (p.Ala26=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000305712]|Familial hypocalciuric hypercalcemia 1 [RCV000353506]|Familial hypocalciuric hypercalcemia [RCV000458475]|Familial hypoparathyroidism [RCV000267011]|Neonatal severe primary hyperparathyroidism [RCV000357932]|Nephrolithiasis/nephrocalcinosis [RCV004020056]|not provided [RCV001668328]|not specified [RCV000173117] Chr3:122254267 [GRCh38]
Chr3:121973114 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr) single nucleotide variant not provided [RCV000054613] Chr3:122262104 [GRCh38]
Chr3:121980951 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001083262]|Hereditary cancer-predisposing syndrome [RCV002255127]|Nephrolithiasis/nephrocalcinosis [RCV004018970]|not provided [RCV000054614]|not specified [RCV001818230] Chr3:122262227 [GRCh38]
Chr3:121981074 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.1209T>C (p.Ser403=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001460559]|Nephrolithiasis/nephrocalcinosis [RCV004018971]|not provided [RCV000054615] Chr3:122262244 [GRCh38]
Chr3:121981091 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1395G>A (p.Arg465=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001078889]|Nephrolithiasis/nephrocalcinosis [RCV004018972]|not provided [RCV000054616] Chr3:122275829 [GRCh38]
Chr3:121994676 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1629C>T (p.Ser543=) single nucleotide variant not provided [RCV000054617] Chr3:122282133 [GRCh38]
Chr3:122000980 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1668G>A (p.Glu556=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001087617]|Nephrolithiasis/nephrocalcinosis [RCV004018973]|not provided [RCV000054618]|not specified [RCV001818231] Chr3:122282172 [GRCh38]
Chr3:122001019 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002514275]|not provided [RCV000054619] Chr3:122284551 [GRCh38]
Chr3:122003398 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) single nucleotide variant CASR-related disorder [RCV004554696]|Familial hypocalciuric hypercalcemia [RCV000225899]|Nephrolithiasis/nephrocalcinosis [RCV004018974]|not provided [RCV000054620] Chr3:122284731 [GRCh38]
Chr3:122003578 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2920A>T (p.Thr974Ser) single nucleotide variant not provided [RCV000054621] Chr3:122284874 [GRCh38]
Chr3:122003721 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2944C>T (p.Pro982Ser) single nucleotide variant not provided [RCV000054622] Chr3:122284898 [GRCh38]
Chr3:122003745 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala) single nucleotide variant not provided [RCV000054623] Chr3:122285061 [GRCh38]
Chr3:122003908 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.501T>C (p.Tyr167=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003764727]|not provided [RCV000054624] Chr3:122261536 [GRCh38]
Chr3:121980383 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025108]|Familial hypocalciuric hypercalcemia [RCV000469248]|Nephrolithiasis/nephrocalcinosis [RCV004018975]|not provided [RCV000054625] Chr3:122261775 [GRCh38]
Chr3:121980622 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.920T>C (p.Met307Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001853080]|not provided [RCV000054626] Chr3:122261955 [GRCh38]
Chr3:121980802 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.99C>T (p.Ile33=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001078772]|Nephrolithiasis/nephrocalcinosis [RCV004018976]|not provided [RCV000054627] Chr3:122254288 [GRCh38]
Chr3:121973135 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000054481]|Autosomal dominant hypocalcemia [RCV001797617]|CASR-related disorder [RCV004554695]|Familial hypocalciuric hypercalcemia 1 [RCV002490628]|Familial hypocalciuric hypercalcemia [RCV001384281]|Nephrolithiasis/nephrocalcinosis [RCV003343624]|not provided [RCV000518374] Chr3:122261697 [GRCh38]
Chr3:121980544 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000054482]|Familial hypocalciuric hypercalcemia [RCV002515738] Chr3:122261697 [GRCh38]
Chr3:121980544 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.85A>G (p.Lys29Glu) single nucleotide variant Bartter syndrome with hypocalcemia [RCV000054483] Chr3:122254274 [GRCh38]
Chr3:121973121 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001918600]|Nephrolithiasis/nephrocalcinosis [RCV004042754] Chr3:122262362 [GRCh38]
Chr3:121981209 [GRCh37]
Chr3:123463899 [NCBI36]
Chr3:3q21.1		 uncertain significance|not provided
NM_000388.4(CASR):c.801C>T (p.Ile267=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001492273]|Nephrolithiasis/nephrocalcinosis [RCV004019073] Chr3:122261836 [GRCh38]
Chr3:121980683 [GRCh37]
Chr3:123463373 [NCBI36]
Chr3:3q21.1		 likely benign|not provided
NM_000388.4(CASR):c.2991C>T (p.Ser997=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000867900]|Nephrolithiasis/nephrocalcinosis [RCV004019074] Chr3:122284945 [GRCh38]
Chr3:122003792 [GRCh37]
Chr3:123486482 [NCBI36]
Chr3:3q21.1		 likely benign|not provided
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001303788] Chr3:122284766 [GRCh38]
Chr3:122003613 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.703A>G (p.Ile235Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001367728] Chr3:122261738 [GRCh38]
Chr3:121980585 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000331288]|Familial hypocalciuric hypercalcemia 1 [RCV000987311]|Familial hypocalciuric hypercalcemia 1 [RCV002492770]|Familial hypocalciuric hypercalcemia [RCV001081445]|Familial hypoparathyroidism [RCV000325278]|Hereditary cancer-predisposing syndrome [RCV002257478]|Neonatal severe primary hyperparathyroidism [RCV000295987]|Nephrolithiasis/nephrocalcinosis [RCV004020102]|not provided [RCV000513760]|not specified [RCV000177056] Chr3:122261783 [GRCh38]
Chr3:122261783..122261784 [GRCh38]
Chr3:121980630 [GRCh37]
Chr3:121980630..121980631 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000388.4(CASR):c.2610G>A (p.Glu870=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000267557]|Familial hypocalciuric hypercalcemia 1 [RCV000297045]|Familial hypocalciuric hypercalcemia [RCV001080485]|Familial hypoparathyroidism [RCV000261785]|Neonatal severe primary hyperparathyroidism [RCV000354197]|Nephrolithiasis/nephrocalcinosis [RCV004020141]|not provided [RCV000711036]|not specified [RCV000179295] Chr3:122284564 [GRCh38]
Chr3:122003411 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000276967]|Familial hypocalciuric hypercalcemia 1 [RCV000987314]|Familial hypocalciuric hypercalcemia [RCV001514193]|Familial hypoparathyroidism [RCV000394192]|Neonatal severe primary hyperparathyroidism [RCV000312165]|Nephrolithiasis/nephrocalcinosis [RCV004020142]|not provided [RCV004715755]|not specified [RCV000179296] Chr3:122284922 [GRCh38]
Chr3:122003769 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2730C>A (p.Pro910=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001084474]|Hereditary cancer-predisposing syndrome [RCV002256096]|Nephrolithiasis/nephrocalcinosis [RCV004020143]|not provided [RCV000711037]|not specified [RCV000179297] Chr3:122284684 [GRCh38]
Chr3:122003531 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.114T>C (p.Phe38=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001086519]|Nephrolithiasis/nephrocalcinosis [RCV004020055]|not provided [RCV000173116]|not specified [RCV005237643] Chr3:122254303 [GRCh38]
Chr3:121973150 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2788C>G (p.Gln930Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001302792] Chr3:122284742 [GRCh38]
Chr3:122003589 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000704147]|Nephrolithiasis/nephrocalcinosis [RCV004019782]|Prostate cancer [RCV000149000] Chr3:122285075 [GRCh38]
Chr3:122003922 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1 copy number loss See cases [RCV000140814] Chr3:121925147..126782249 [GRCh38]
Chr3:121643994..126501092 [GRCh37]
Chr3:123126684..127983782 [NCBI36]
Chr3:3q13.33-21.3		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3		 pathogenic
NM_000388.4(CASR):c.2901C>A (p.Ile967=) single nucleotide variant CASR-related disorder [RCV004554744]|Familial hypocalciuric hypercalcemia [RCV001084514]|Nephrolithiasis/nephrocalcinosis [RCV004020144]|not provided [RCV000179298] Chr3:122284855 [GRCh38]
Chr3:122003702 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000987312] Chr3:122284436 [GRCh38]
Chr3:122003283 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.*923T>C single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000304808]|Familial hypocalciuric hypercalcemia 1 [RCV000329425]|Familial hypoparathyroidism [RCV000265077]|Neonatal severe primary hyperparathyroidism [RCV000359795] Chr3:122286114 [GRCh38]
Chr3:122004961 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002491012]|Familial hypocalciuric hypercalcemia [RCV000543101]|Nephrolithiasis/nephrocalcinosis [RCV004023962]|not provided [RCV000991748] Chr3:122257203 [GRCh38]
Chr3:121976050 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002481665]|Familial hypocalciuric hypercalcemia [RCV000529628]|Nephrolithiasis/nephrocalcinosis [RCV004023497]|not provided [RCV005243260]|not specified [RCV000517161] Chr3:122284170 [GRCh38]
Chr3:122003017 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231746]|Nephrolithiasis/nephrocalcinosis [RCV004023973] Chr3:122261979 [GRCh38]
Chr3:121980826 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3031= (p.Glu1011=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000229426]|not specified [RCV000517399] Chr3:122284985 [GRCh38]
Chr3:122003832 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002494625]|Familial hypocalciuric hypercalcemia [RCV000231296]|Nephrolithiasis/nephrocalcinosis [RCV004020762]|not provided [RCV000274163] Chr3:122261889 [GRCh38]
Chr3:121980736 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2064C>T (p.Phe688=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000347538]|Familial hypocalciuric hypercalcemia 1 [RCV000302845]|Familial hypocalciuric hypercalcemia [RCV001080668]|Familial hypoparathyroidism [RCV000359832]|Hereditary cancer-predisposing syndrome [RCV002255325]|Neonatal severe primary hyperparathyroidism [RCV000395248]|Nephrolithiasis/nephrocalcinosis [RCV004020756]|not provided [RCV000711032]|not specified [RCV002267979] Chr3:122284018 [GRCh38]
Chr3:122002865 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.573G>A (p.Glu191=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000273897]|Familial hypocalciuric hypercalcemia 1 [RCV000261016]|Familial hypocalciuric hypercalcemia [RCV000229524]|Familial hypoparathyroidism [RCV000318421]|Neonatal severe primary hyperparathyroidism [RCV000356907]|Nephrolithiasis/nephrocalcinosis [RCV004020760]|not provided [RCV003422134]|not specified [RCV000516564] Chr3:122261608 [GRCh38]
Chr3:121980455 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000226572] Chr3:122257189 [GRCh38]
Chr3:121976036 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000349859]|Familial hypocalciuric hypercalcemia 1 [RCV000292615]|Familial hypocalciuric hypercalcemia [RCV000231272]|Familial hypoparathyroidism [RCV000374352]|Neonatal severe primary hyperparathyroidism [RCV000388159]|Nephrolithiasis/nephrocalcinosis [RCV004020754]|not provided [RCV001689757]|not specified [RCV000518422] Chr3:122283729 [GRCh38]
Chr3:122002576 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.2039G>A (p.Arg680His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002494624]|Familial hypocalciuric hypercalcemia [RCV000231951]|Familial hypocalciuric hypercalcemia [RCV003235152]|not provided [RCV000991741] Chr3:122283993 [GRCh38]
Chr3:122002840 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) single nucleotide variant CASR-related disorder [RCV004758675]|Familial hypocalciuric hypercalcemia [RCV000226673]|Familial hypocalciuric hypercalcemia [RCV003114394]|Nephrolithiasis/nephrocalcinosis [RCV004601135]|not provided [RCV002472975] Chr3:122257322 [GRCh38]
Chr3:121976169 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1608+4G>T single nucleotide variant CASR-related disorder [RCV004554755]|Familial hypocalciuric hypercalcemia [RCV000230595]|Nephrolithiasis/nephrocalcinosis [RCV004020751] Chr3:122276046 [GRCh38]
Chr3:121994893 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031811]|Familial hypocalciuric hypercalcemia [RCV000231567]|Nephrolithiasis/nephrocalcinosis [RCV004020758] Chr3:122284902 [GRCh38]
Chr3:122003749 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1752G>A (p.Lys584=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000317362]|CASR-related disorder [RCV004554756]|Familial hypocalciuric hypercalcemia 1 [RCV000259904]|Familial hypocalciuric hypercalcemia [RCV000227311]|Familial hypoparathyroidism [RCV000380231]|Hereditary cancer-predisposing syndrome [RCV002255324]|Neonatal severe primary hyperparathyroidism [RCV000323277]|Nephrolithiasis/nephrocalcinosis [RCV004020753]|not provided [RCV003311719] Chr3:122283706 [GRCh38]
Chr3:122002553 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.762T>C (p.His254=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000227351]|Familial hypocalciuric hypercalcemia [RCV000404951]|Familial hypoparathyroidism [RCV000289893]|Hypocalcemia [RCV000347151]|Neonatal severe primary hyperparathyroidism [RCV000382240]|Nephrolithiasis/nephrocalcinosis [RCV004020761]|not provided [RCV004710599] Chr3:122261797 [GRCh38]
Chr3:121980644 [GRCh37]
Chr3:3q21.1		 likely pathogenic|likely benign
NM_000388.4(CASR):c.1188A>G (p.Thr396=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001149345]|CASR-related disorder [RCV004554754]|Familial hypocalciuric hypercalcemia 1 [RCV001149348]|Familial hypocalciuric hypercalcemia [RCV000233360]|Familial hypoparathyroidism [RCV001149347]|Neonatal severe primary hyperparathyroidism [RCV001149346]|Nephrolithiasis/nephrocalcinosis [RCV004020749]|not provided [RCV003144169] Chr3:122262223 [GRCh38]
Chr3:121981070 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001370810]|Nephrolithiasis/nephrocalcinosis [RCV004020759] Chr3:122285092 [GRCh38]
Chr3:122003939 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000322558]|Familial hypocalciuric hypercalcemia 1 [RCV000385213]|Familial hypocalciuric hypercalcemia [RCV000227761]|Familial hypoparathyroidism [RCV000283739]|Neonatal severe primary hyperparathyroidism [RCV000327874]|Nephrolithiasis/nephrocalcinosis [RCV004020750]|not provided [RCV001582765]|not specified [RCV000251383] Chr3:122262320 [GRCh38]
Chr3:121981167 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000388.4(CASR):c.1974G>T (p.Leu658=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000234146]|Nephrolithiasis/nephrocalcinosis [RCV004020755] Chr3:122283928 [GRCh38]
Chr3:122002775 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2244= (p.Pro748=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001083177]|not provided [RCV000711035] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000281394]|Epilepsy, idiopathic generalized, susceptibility to, 8 [RCV001838993]|Familial hypocalciuric hypercalcemia 1 [RCV000337880]|Familial hypocalciuric hypercalcemia [RCV001081459]|Familial hypoparathyroidism [RCV000312098]|Hereditary cancer-predisposing syndrome [RCV002255323]|Neonatal severe primary hyperparathyroidism [RCV000390791]|Nephrolithiasis/nephrocalcinosis [RCV004020752]|not provided [RCV000727289]|not specified [RCV000251515] Chr3:122282135 [GRCh38]
Chr3:122000982 [GRCh37]
Chr3:3q21.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031810]|Familial hypocalciuric hypercalcemia [RCV000228722]|Nephrolithiasis/nephrocalcinosis [RCV004020757]|not provided [RCV003144170] Chr3:122284824 [GRCh38]
Chr3:122003671 [GRCh37]
Chr3:3q21.1		 likely pathogenic|likely benign|uncertain significance
NM_000388.4(CASR):c.1854C>T (p.Leu618=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000548253]|Nephrolithiasis/nephrocalcinosis [RCV004023942] Chr3:122283808 [GRCh38]
Chr3:122002655 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.165G>A (p.Pro55=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001083258]|Nephrolithiasis/nephrocalcinosis [RCV004023939]|not provided [RCV000711029]|not specified [RCV004526701] Chr3:122254354 [GRCh38]
Chr3:121973201 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1849del (p.Thr617fs) deletion not provided [RCV000517648] Chr3:122283803 [GRCh38]
Chr3:122002650 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1981T>A (p.Cys661Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001368149] Chr3:122283935 [GRCh38]
Chr3:122002782 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.546T>A (p.Ser182=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000467992]|Nephrolithiasis/nephrocalcinosis [RCV004021005]|not provided [RCV002469089]|not specified [RCV000253384] Chr3:122261581 [GRCh38]
Chr3:121980428 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.*60A>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000403732]|Familial hypocalciuric hypercalcemia 1 [RCV000283415]|Familial hypoparathyroidism [RCV000287022]|Neonatal severe primary hyperparathyroidism [RCV000341909]|not provided [RCV001653658] Chr3:122285251 [GRCh38]
Chr3:122004098 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.915C>A (p.Ile305=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000394235]|CASR-related disorder [RCV004554763]|Familial hypocalciuric hypercalcemia 1 [RCV000283947]|Familial hypocalciuric hypercalcemia [RCV000458570]|Familial hypoparathyroidism [RCV000341465]|Hereditary cancer-predisposing syndrome [RCV002258880]|Neonatal severe primary hyperparathyroidism [RCV000297126]|Nephrolithiasis/nephrocalcinosis [RCV004021875] Chr3:122261950 [GRCh38]
Chr3:121980797 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.*574C>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000321599]|Familial hypocalciuric hypercalcemia 1 [RCV000285264]|Familial hypoparathyroidism [RCV000376273]|Neonatal severe primary hyperparathyroidism [RCV000379619]|not provided [RCV004717472] Chr3:122285765 [GRCh38]
Chr3:122004612 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.-137C>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000280456]|Familial hypocalciuric hypercalcemia 1 [RCV000375010]|Familial hypoparathyroidism [RCV000317765]|Neonatal severe primary hyperparathyroidism [RCV000349433] Chr3:122254053 [GRCh38]
Chr3:121972900 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1093C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000294589]|Familial hypocalciuric hypercalcemia 1 [RCV000385475]|Familial hypoparathyroidism [RCV000282482]|Neonatal severe primary hyperparathyroidism [RCV000349550]|not provided [RCV004716003] Chr3:122286284 [GRCh38]
Chr3:122005131 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027635]|Familial hypocalciuric hypercalcemia [RCV002231741]|Nephrolithiasis/nephrocalcinosis [RCV004023958] Chr3:122284932 [GRCh38]
Chr3:122003779 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*103A>C single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000313811]|Familial hypocalciuric hypercalcemia 1 [RCV000273791]|Familial hypoparathyroidism [RCV000368462]|Neonatal severe primary hyperparathyroidism [RCV000397889] Chr3:122285294 [GRCh38]
Chr3:122004141 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1198T>C single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000319605]|Familial hypocalciuric hypercalcemia 1 [RCV000374172]|Familial hypoparathyroidism [RCV000386740]|Neonatal severe primary hyperparathyroidism [RCV000273862]|not provided [RCV004716004] Chr3:122286389 [GRCh38]
Chr3:122005236 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001255710]|CASR-related disorder [RCV004758700]|not provided [RCV000519795] Chr3:122284419 [GRCh38]
Chr3:122003266 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.1491C>T (p.Ser497=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000542234]|Nephrolithiasis/nephrocalcinosis [RCV004021004]|not specified [RCV000246768] Chr3:122275925 [GRCh38]
Chr3:121994772 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001855012]|not provided [RCV000255744]|not specified [RCV003317177] Chr3:122283867 [GRCh38]
Chr3:122002714 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000386160]|Familial hypocalciuric hypercalcemia 1 [RCV000275318]|Familial hypocalciuric hypercalcemia 1 [RCV002488736]|Familial hypocalciuric hypercalcemia [RCV000463497]|Familial hypoparathyroidism [RCV000319319]|Hereditary cancer-predisposing syndrome [RCV002257650]|Neonatal severe primary hyperparathyroidism [RCV000332693]|Nephrolithiasis/nephrocalcinosis [RCV004021879]|not specified [RCV000616813] Chr3:122284778 [GRCh38]
Chr3:122003625 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1733-9A>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000271263]|Familial hypocalciuric hypercalcemia 1 [RCV000357824]|Familial hypocalciuric hypercalcemia [RCV000549471]|Familial hypoparathyroidism [RCV000265913]|Neonatal severe primary hyperparathyroidism [RCV000310035]|not specified [RCV000249281] Chr3:122283678 [GRCh38]
Chr3:122002525 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3 copy number gain See cases [RCV000240473] Chr3:119749810..122459323 [GRCh37]
Chr3:3q13.33-21.1		 likely pathogenic
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000271192]|Familial hypocalciuric hypercalcemia 1 [RCV000363417]|Familial hypocalciuric hypercalcemia [RCV001861205]|Familial hypoparathyroidism [RCV000328611]|Neonatal severe primary hyperparathyroidism [RCV000324970]|Nephrolithiasis/nephrocalcinosis [RCV004021882] Chr3:122285008 [GRCh38]
Chr3:122003855 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001853698]|not provided [RCV000522441] Chr3:122283743 [GRCh38]
Chr3:122002590 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1015A>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000269865]|Familial hypocalciuric hypercalcemia 1 [RCV000388912]|Familial hypoparathyroidism [RCV000324896]|Neonatal severe primary hyperparathyroidism [RCV000384053]|not provided [RCV004717473] Chr3:122286206 [GRCh38]
Chr3:122005053 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.587C>A (p.Ala196Asp) single nucleotide variant not specified [RCV000517481] Chr3:122261622 [GRCh38]
Chr3:121980469 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000276416]|Familial hypocalciuric hypercalcemia 1 [RCV000362753]|Familial hypocalciuric hypercalcemia [RCV001309597]|Familial hypoparathyroidism [RCV000333822]|Neonatal severe primary hyperparathyroidism [RCV000270421]|Nephrolithiasis/nephrocalcinosis [RCV004021877] Chr3:122262043 [GRCh38]
Chr3:121980890 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000497144]|not specified [RCV003493605] Chr3:122284293 [GRCh38]
Chr3:122003140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003766914]|not specified [RCV000517631] Chr3:122254278 [GRCh38]
Chr3:121973125 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2412C>T (p.Ala804=) single nucleotide variant not specified [RCV000252833] Chr3:122284366 [GRCh38]
Chr3:122003213 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.-154T>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000380375]|Familial hypocalciuric hypercalcemia 1 [RCV000267261]|Familial hypoparathyroidism [RCV000321148]|Neonatal severe primary hyperparathyroidism [RCV000266252] Chr3:122254036 [GRCh38]
Chr3:121972883 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_000388.4(CASR):c.1011C>G (p.Val337=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034095]|Familial hypocalciuric hypercalcemia [RCV000529823]|Nephrolithiasis/nephrocalcinosis [RCV004023923] Chr3:122262046 [GRCh38]
Chr3:121980893 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.199G>C (p.Gly67Arg) single nucleotide variant not specified [RCV000518194] Chr3:122257094 [GRCh38]
Chr3:121975941 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1287C>A (p.His429Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002476143]|Familial hypocalciuric hypercalcemia [RCV000525837]|Nephrolithiasis/nephrocalcinosis [RCV004023929] Chr3:122262322 [GRCh38]
Chr3:121981169 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001309382]|not provided [RCV004791507]|not specified [RCV000516779] Chr3:122283999 [GRCh38]
Chr3:122002846 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.492+18G>C single nucleotide variant not specified [RCV000245924] Chr3:122257405 [GRCh38]
Chr3:121976252 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000801507]|Nephrolithiasis/nephrocalcinosis [RCV004023498]|not specified [RCV000516920] Chr3:122284502 [GRCh38]
Chr3:122003349 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.6A>C (p.Ala2=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000306453]|Familial hypocalciuric hypercalcemia 1 [RCV000303092]|Familial hypocalciuric hypercalcemia [RCV000461937]|Familial hypoparathyroidism [RCV000395613]|Hereditary cancer-predisposing syndrome [RCV002256219]|Neonatal severe primary hyperparathyroidism [RCV000347434]|Nephrolithiasis/nephrocalcinosis [RCV004021874]|not specified [RCV000731195] Chr3:122254195 [GRCh38]
Chr3:121973042 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000288087]|Familial hypocalciuric hypercalcemia 1 [RCV000664401]|Familial hypocalciuric hypercalcemia 1 [RCV005027445]|Familial hypocalciuric hypercalcemia [RCV000525899]|Familial hypoparathyroidism [RCV000383567]|Neonatal severe primary hyperparathyroidism [RCV000345436]|Nephrolithiasis/nephrocalcinosis [RCV004021880]|not provided [RCV000711038] Chr3:122284869 [GRCh38]
Chr3:122003716 [GRCh37]
Chr3:3q21.1		 pathogenic|benign|likely benign|uncertain significance
NM_000388.4(CASR):c.*1235A>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000402843]|Familial hypocalciuric hypercalcemia 1 [RCV000291326]|Familial hypoparathyroidism [RCV000346217]|Neonatal severe primary hyperparathyroidism [RCV000340206]|not provided [RCV004716005] Chr3:122286426 [GRCh38]
Chr3:122005273 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2955C>T (p.Asn985=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000305011]|Familial hypocalciuric hypercalcemia 1 [RCV000405908]|Familial hypocalciuric hypercalcemia [RCV000466799]|Familial hypoparathyroidism [RCV000340015]|Neonatal severe primary hyperparathyroidism [RCV000291642]|Nephrolithiasis/nephrocalcinosis [RCV004021881] Chr3:122284909 [GRCh38]
Chr3:122003756 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1665T>C (p.Ile555=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000363520]|Familial hypocalciuric hypercalcemia 1 [RCV000369153]|Familial hypocalciuric hypercalcemia [RCV000560070]|Familial hypoparathyroidism [RCV000306403]|Neonatal severe primary hyperparathyroidism [RCV000397082]|Nephrolithiasis/nephrocalcinosis [RCV004021878]|not specified [RCV005238931] Chr3:122282169 [GRCh38]
Chr3:122001016 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.*87C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000347727]|Familial hypocalciuric hypercalcemia 1 [RCV000307886]|Familial hypoparathyroidism [RCV000390831]|Neonatal severe primary hyperparathyroidism [RCV000362643] Chr3:122285278 [GRCh38]
Chr3:122004125 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.-111C>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000295877]|Familial hypocalciuric hypercalcemia 1 [RCV000385290]|Familial hypoparathyroidism [RCV000350815]|Neonatal severe primary hyperparathyroidism [RCV000405462] Chr3:122254079 [GRCh38]
Chr3:121972926 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.1923C>T (p.Pro641=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000309043]|Familial hypocalciuric hypercalcemia 1 [RCV000296195]|Familial hypocalciuric hypercalcemia [RCV001493729]|Familial hypoparathyroidism [RCV000404234]|Neonatal severe primary hyperparathyroidism [RCV000343864]|Nephrolithiasis/nephrocalcinosis [RCV004601159] Chr3:122283877 [GRCh38]
Chr3:122002724 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.*640G>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000311487]|Familial hypocalciuric hypercalcemia 1 [RCV000403568]|Familial hypoparathyroidism [RCV000351325]|Neonatal severe primary hyperparathyroidism [RCV000338454] Chr3:122285831 [GRCh38]
Chr3:122004678 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.930C>T (p.Tyr310=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000311839]|Familial hypocalciuric hypercalcemia 1 [RCV000354303]|Familial hypocalciuric hypercalcemia [RCV000954359]|Familial hypoparathyroidism [RCV000394262]|Neonatal severe primary hyperparathyroidism [RCV000368865]|Nephrolithiasis/nephrocalcinosis [RCV004021876] Chr3:122261965 [GRCh38]
Chr3:121980812 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.*1169C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000405182]|Familial hypocalciuric hypercalcemia 1 [RCV000297695]|Familial hypoparathyroidism [RCV000343163]|Neonatal severe primary hyperparathyroidism [RCV000337517] Chr3:122286360 [GRCh38]
Chr3:122005207 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.650A>G (p.Asp217Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213245]|not provided [RCV000302361] Chr3:122261685 [GRCh38]
Chr3:121980532 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3168G>T (p.Val1056=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000317589]|CASR-related disorder [RCV004554764]|Familial hypocalciuric hypercalcemia 1 [RCV000281252]|Familial hypocalciuric hypercalcemia [RCV000884515]|Familial hypoparathyroidism [RCV000376313]|Neonatal severe primary hyperparathyroidism [RCV000372191]|Nephrolithiasis/nephrocalcinosis [RCV004021883] Chr3:122285122 [GRCh38]
Chr3:122003969 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV002272201]|Familial hypocalciuric hypercalcemia [RCV002229733]|Neonatal severe primary hyperparathyroidism [RCV005238817]|Nephrolithiasis/nephrocalcinosis [RCV004021067]|not provided [RCV000279142] Chr3:122282134 [GRCh38]
Chr3:122000981 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.108dup (p.Leu37fs) duplication Familial hypocalciuric hypercalcemia 1 [RCV005031847]|Familial hypocalciuric hypercalcemia [RCV001219086]|Nephrolithiasis/nephrocalcinosis [RCV004021069]|not provided [RCV000289534] Chr3:122254291..122254292 [GRCh38]
Chr3:121973138..121973139 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.*188dup duplication Familial hypocalciuric hypercalcemia [RCV000260384]|Familial hypoparathyroidism [RCV000355280]|Hypocalcemia [RCV000315706]|Neonatal severe primary hyperparathyroidism [RCV000319534] Chr3:122285371..122285372 [GRCh38]
Chr3:122004218..122004219 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.1074C>T (p.Cys358=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003765668]|not provided [RCV000345377] Chr3:122262109 [GRCh38]
Chr3:121980956 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.*1193C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000404283]|Familial hypocalciuric hypercalcemia 1 [RCV000358112]|Familial hypoparathyroidism [RCV000272848]|Neonatal severe primary hyperparathyroidism [RCV000303347] Chr3:122286384 [GRCh38]
Chr3:122005231 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2364C>G (p.Phe788Leu) single nucleotide variant not provided [RCV000322980] Chr3:122284318 [GRCh38]
Chr3:122003165 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.60C>T (p.Tyr20=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001147691]|CASR-related disorder [RCV004554760]|Familial hypocalciuric hypercalcemia 1 [RCV001147693]|Familial hypocalciuric hypercalcemia [RCV001087642]|Familial hypoparathyroidism [RCV001147692]|Neonatal severe primary hyperparathyroidism [RCV001147694]|Nephrolithiasis/nephrocalcinosis [RCV004021177]|not provided [RCV000315565] Chr3:122254249 [GRCh38]
Chr3:121973096 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.885C>T (p.Ala295=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001087362]|Nephrolithiasis/nephrocalcinosis [RCV004021076]|not provided [RCV000290827] Chr3:122261920 [GRCh38]
Chr3:121980767 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001859668]|not provided [RCV000358646] Chr3:122284062 [GRCh38]
Chr3:122002909 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1197C>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000309279]|Familial hypocalciuric hypercalcemia 1 [RCV000332242]|Familial hypoparathyroidism [RCV000277251]|Neonatal severe primary hyperparathyroidism [RCV000362561] Chr3:122286388 [GRCh38]
Chr3:122005235 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003982979]|Familial hypocalciuric hypercalcemia [RCV000815977]|Familial hypocalciuric hypercalcemia [RCV002469093]|Nephrolithiasis/nephrocalcinosis [RCV004021054]|not provided [RCV000401051] Chr3:122254353 [GRCh38]
Chr3:121973200 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3132G>A (p.Val1044=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001084533]|Nephrolithiasis/nephrocalcinosis [RCV004021153]|not provided [RCV000400310] Chr3:122285086 [GRCh38]
Chr3:122003933 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.*790T>C single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000268359]|Familial hypocalciuric hypercalcemia 1 [RCV000299064]|Familial hypoparathyroidism [RCV000395333]|Neonatal severe primary hyperparathyroidism [RCV000353975] Chr3:122285981 [GRCh38]
Chr3:122004828 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1201C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000334311]|Familial hypocalciuric hypercalcemia 1 [RCV000279745]|Familial hypoparathyroidism [RCV000285180]|Neonatal severe primary hyperparathyroidism [RCV000379528] Chr3:122286392 [GRCh38]
Chr3:122005239 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000550849]|Nephrolithiasis/nephrocalcinosis [RCV004023244]|not provided [RCV000489028] Chr3:122257258 [GRCh38]
Chr3:121976105 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.422T>C (p.Val141Ala) single nucleotide variant not provided [RCV000489392] Chr3:122257317 [GRCh38]
Chr3:121976164 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.440C>T (p.Ser147Leu) single nucleotide variant not provided [RCV003320996] Chr3:122257335 [GRCh38]
Chr3:121976182 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231733]|Nephrolithiasis/nephrocalcinosis [RCV004023933] Chr3:122262372 [GRCh38]
Chr3:121981219 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.679C>G (p.Arg227Gly) single nucleotide variant not provided [RCV000489801] Chr3:122261714 [GRCh38]
Chr3:121980561 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.*625G>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000296361]|Familial hypocalciuric hypercalcemia 1 [RCV000408374]|Familial hypoparathyroidism [RCV000345597]|Neonatal severe primary hyperparathyroidism [RCV000291247] Chr3:122285816 [GRCh38]
Chr3:122004663 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.-378del deletion Familial hypocalciuric hypercalcemia [RCV000395625]|Familial hypoparathyroidism [RCV000314365]|Hypocalcemia [RCV000345882]|Neonatal severe primary hyperparathyroidism [RCV000310837] Chr3:122183676 [GRCh38]
Chr3:121902523 [GRCh37]
Chr3:3q13.33		 likely benign
NM_000388.4(CASR):c.1972del (p.Leu658fs) deletion Familial hypocalciuric hypercalcemia [RCV000551549] Chr3:122283924 [GRCh38]
Chr3:122002771 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004820856]|Familial hypocalciuric hypercalcemia [RCV002527462]|Nephrolithiasis/nephrocalcinosis [RCV004023499]|not specified [RCV000518164] Chr3:122284503 [GRCh38]
Chr3:122003350 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000691702]|not provided [RCV000518357]|not specified [RCV002268137] Chr3:122275900 [GRCh38]
Chr3:121994747 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000553761] Chr3:122275878 [GRCh38]
Chr3:121994725 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639456]|Nephrolithiasis/nephrocalcinosis [RCV004024864]|not provided [RCV000591668] Chr3:122261648 [GRCh38]
Chr3:121980495 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002506433]|Familial hypocalciuric hypercalcemia [RCV000799519]|Nephrolithiasis/nephrocalcinosis [RCV004024815]|not provided [RCV000592651] Chr3:122262198 [GRCh38]
Chr3:121981045 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027638]|Familial hypocalciuric hypercalcemia [RCV000531050]|Nephrolithiasis/nephrocalcinosis [RCV004023968]|not provided [RCV001755832] Chr3:122254263 [GRCh38]
Chr3:121973110 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003766912]|Nephrolithiasis/nephrocalcinosis [RCV004023500]|not specified [RCV000516951] Chr3:122284592 [GRCh38]
Chr3:122003439 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.705C>A (p.Ile235=) single nucleotide variant CASR-related disorder [RCV004554803]|Familial hypocalciuric hypercalcemia 1 [RCV005027637]|Familial hypocalciuric hypercalcemia [RCV000554069]|Nephrolithiasis/nephrocalcinosis [RCV004023967] Chr3:122261740 [GRCh38]
Chr3:121980587 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2238G>A (p.Ala746=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000554238]|Nephrolithiasis/nephrocalcinosis [RCV004023949] Chr3:122284192 [GRCh38]
Chr3:122003039 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000532551]|not provided [RCV003482279] Chr3:122284197 [GRCh38]
Chr3:122003044 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2841C>G (p.Pro947=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000551878]|Nephrolithiasis/nephrocalcinosis [RCV004023957] Chr3:122284795 [GRCh38]
Chr3:122003642 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639427] Chr3:122284805 [GRCh38]
Chr3:122003652 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.145C>G (p.Gln49Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639432]|Nephrolithiasis/nephrocalcinosis [RCV004025545]|not provided [RCV004588064] Chr3:122254334 [GRCh38]
Chr3:121973181 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.426G>A (p.Val142=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639445]|Nephrolithiasis/nephrocalcinosis [RCV004025551] Chr3:122257321 [GRCh38]
Chr3:121976168 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.853C>T (p.Arg285Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639446]|Nephrolithiasis/nephrocalcinosis [RCV004025552] Chr3:122261888 [GRCh38]
Chr3:121980735 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233473]|Nephrolithiasis/nephrocalcinosis [RCV004025556] Chr3:122262122 [GRCh38]
Chr3:121980969 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027753]|Familial hypocalciuric hypercalcemia [RCV000639463]|Nephrolithiasis/nephrocalcinosis [RCV004025560] Chr3:122262210 [GRCh38]
Chr3:121981057 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.646G>A (p.Asp216Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232613] Chr3:122261681 [GRCh38]
Chr3:121980528 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu) indel Familial hypocalciuric hypercalcemia [RCV002233476] Chr3:122284551..122284552 [GRCh38]
Chr3:122003398..122003399 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.579G>A (p.Gln193=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639475]|Nephrolithiasis/nephrocalcinosis [RCV004025564] Chr3:122261614 [GRCh38]
Chr3:121980461 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2664G>C (p.Thr888=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232616]|Nephrolithiasis/nephrocalcinosis [RCV004992431] Chr3:122284618 [GRCh38]
Chr3:122003465 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2613G>A (p.Glu871=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639489]|Nephrolithiasis/nephrocalcinosis [RCV004025573] Chr3:122284567 [GRCh38]
Chr3:122003414 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.675A>G (p.Lys225=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483827]|Familial hypocalciuric hypercalcemia [RCV000639496]|Nephrolithiasis/nephrocalcinosis [RCV004025580] Chr3:122261710 [GRCh38]
Chr3:121980557 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.828T>C (p.Leu276=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639497]|Nephrolithiasis/nephrocalcinosis [RCV004025581] Chr3:122261863 [GRCh38]
Chr3:121980710 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2229C>T (p.Leu743=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001499746]|Nephrolithiasis/nephrocalcinosis [RCV004024729]|not provided [RCV000593760] Chr3:122284183 [GRCh38]
Chr3:122003030 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639428]|Nephrolithiasis/nephrocalcinosis [RCV004025543] Chr3:122284956 [GRCh38]
Chr3:122003803 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.512G>C (p.Ser171Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639439]|Nephrolithiasis/nephrocalcinosis [RCV004025548] Chr3:122261547 [GRCh38]
Chr3:121980394 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639443] Chr3:122284101 [GRCh38]
Chr3:122002948 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.733C>T (p.Gln245Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002234007] Chr3:122261768 [GRCh38]
Chr3:121980615 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV004023533]|Familial hypocalciuric hypercalcemia 1 [RCV003983103]|Familial hypocalciuric hypercalcemia [RCV000639448]|not provided [RCV000523669] Chr3:122261694 [GRCh38]
Chr3:121980541 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1596G>T (p.Gly532=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000556734]|Nephrolithiasis/nephrocalcinosis [RCV004023937] Chr3:122276030 [GRCh38]
Chr3:121994877 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003766911]|not specified [RCV000518562] Chr3:122284157 [GRCh38]
Chr3:122003004 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.836T>G (p.Leu279Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231382] Chr3:122261871 [GRCh38]
Chr3:121980718 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485926]|Familial hypocalciuric hypercalcemia [RCV000815218]|Nephrolithiasis/nephrocalcinosis [RCV004027052]|not provided [RCV000733150] Chr3:122284524 [GRCh38]
Chr3:122003371 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2742C>T (p.Ile914=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231379]|Nephrolithiasis/nephrocalcinosis [RCV004992333] Chr3:122284696 [GRCh38]
Chr3:122003543 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002488857]|Familial hypocalciuric hypercalcemia [RCV001379697]|Familial hypocalciuric hypercalcemia [RCV003401408]|Parathyroid gland adenoma [RCV000415394]|not provided [RCV000991745] Chr3:122284403 [GRCh38]
Chr3:122003250 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2373C>T (p.Ala791=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231736] Chr3:122284327 [GRCh38]
Chr3:122003174 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483411]|Familial hypocalciuric hypercalcemia [RCV000559725]|Nephrolithiasis/nephrocalcinosis [RCV004023940] Chr3:122283774 [GRCh38]
Chr3:122002621 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231747]|Nephrolithiasis/nephrocalcinosis [RCV004023974]|not provided [RCV000733127] Chr3:122262027 [GRCh38]
Chr3:121980874 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231381]|Nephrolithiasis/nephrocalcinosis [RCV004023961] Chr3:122284988 [GRCh38]
Chr3:122003835 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.414G>A (p.Thr138=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000535049]|Nephrolithiasis/nephrocalcinosis [RCV004023966] Chr3:122257309 [GRCh38]
Chr3:121976156 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.323del (p.Leu108fs) deletion not provided [RCV000734689] Chr3:122257217 [GRCh38]
Chr3:121976064 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231737] Chr3:122284551 [GRCh38]
Chr3:122003398 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2237C>T (p.Ala746Val) single nucleotide variant CASR-related disorder [RCV004758704]|Familial hypocalciuric hypercalcemia [RCV000539780]|Nephrolithiasis/nephrocalcinosis [RCV004023948]|not provided [RCV005231044]|not specified [RCV003387877] Chr3:122284191 [GRCh38]
Chr3:122003038 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.220A>C (p.Met74Leu) single nucleotide variant CASR-related disorder [RCV004554801]|Familial hypocalciuric hypercalcemia 1 [RCV002506333]|Familial hypocalciuric hypercalcemia [RCV000555584]|Nephrolithiasis/nephrocalcinosis [RCV004023947]|not provided [RCV000711034]|not specified [RCV003403288] Chr3:122257115 [GRCh38]
Chr3:121975962 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000558070]|Nephrolithiasis/nephrocalcinosis [RCV004023963] Chr3:122285147 [GRCh38]
Chr3:122003994 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1326G>A (p.Gly442=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231732]|Nephrolithiasis/nephrocalcinosis [RCV004992332] Chr3:122262361 [GRCh38]
Chr3:121981208 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002523905]|not provided [RCV000413522] Chr3:122262218 [GRCh38]
Chr3:121981065 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV004786676]|CASR-related calcium metabolism disorders [RCV003333060]|Familial hypocalciuric hypercalcemia 1 [RCV005033929]|Familial hypocalciuric hypercalcemia [RCV000457695]|Neonatal severe primary hyperparathyroidism [RCV004586698]|Nephrolithiasis/nephrocalcinosis [RCV004022152]|not provided [RCV000413560] Chr3:122254262 [GRCh38]
Chr3:121973109 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000388.4(CASR):c.1287C>T (p.His429=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001086571]|Nephrolithiasis/nephrocalcinosis [RCV004023930]|not provided [RCV000592085] Chr3:122262322 [GRCh38]
Chr3:121981169 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483413]|Familial hypocalciuric hypercalcemia [RCV000538456]|Nephrolithiasis/nephrocalcinosis [RCV004023954] Chr3:122284631 [GRCh38]
Chr3:122003478 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2298C>T (p.His766=) single nucleotide variant CASR-related disorder [RCV004554800]|Familial hypocalciuric hypercalcemia [RCV000540863]|Nephrolithiasis/nephrocalcinosis [RCV004023946] Chr3:122284252 [GRCh38]
Chr3:122003099 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000541084]|Nephrolithiasis/nephrocalcinosis [RCV004023944] Chr3:122283902 [GRCh38]
Chr3:122002749 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001851004]|not specified [RCV000413887] Chr3:122261742 [GRCh38]
Chr3:121980589 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002524650]|not specified [RCV000414090] Chr3:122282123 [GRCh38]
Chr3:122000970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000559230]|Nephrolithiasis/nephrocalcinosis [RCV004023925] Chr3:122262058 [GRCh38]
Chr3:121980905 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000449530]|Familial hypocalciuric hypercalcemia [RCV001214918]|Nephrolithiasis/nephrocalcinosis [RCV004022536] Chr3:122261645 [GRCh38]
Chr3:121980492 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000664400]|Familial hypocalciuric hypercalcemia [RCV000694836]|not provided [RCV000443461] Chr3:122284611 [GRCh38]
Chr3:122003458 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1750A>T (p.Lys584Ter) single nucleotide variant not provided [RCV000443881] Chr3:122283704 [GRCh38]
Chr3:122002551 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.652T>G (p.Tyr218Asp) single nucleotide variant not provided [RCV000427154] Chr3:122261687 [GRCh38]
Chr3:121980534 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1828G>T (p.Glu610Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV004701464]|not provided [RCV000429289] Chr3:122283782 [GRCh38]
Chr3:122002629 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) single nucleotide variant CASR-related disorder [RCV004554774]|Familial hypocalciuric hypercalcemia 1 [RCV002488902]|Familial hypocalciuric hypercalcemia [RCV000700033]|Familial hypocalciuric hypercalcemia [RCV003993953]|not provided [RCV000433842] Chr3:122284359 [GRCh38]
Chr3:122003206 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000705547]|not provided [RCV000434715] Chr3:122261549 [GRCh38]
Chr3:121980396 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2431A>G (p.Met811Val) single nucleotide variant Autosomal dominant hypocalcemia [RCV005238991]|Familial hypocalciuric hypercalcemia [RCV002519527]|not provided [RCV000440135] Chr3:122284385 [GRCh38]
Chr3:122003232 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2611G>T (p.Glu871Ter) single nucleotide variant not provided [RCV000441373] Chr3:122284565 [GRCh38]
Chr3:122003412 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230095] Chr3:122282206 [GRCh38]
Chr3:122001053 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000470323] Chr3:122275879 [GRCh38]
Chr3:121994726 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002506126]|Familial hypocalciuric hypercalcemia [RCV000457221]|Nephrolithiasis/nephrocalcinosis [RCV004022779] Chr3:122262318 [GRCh38]
Chr3:121981165 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000466902]|Nephrolithiasis/nephrocalcinosis [RCV004022780] Chr3:122283779 [GRCh38]
Chr3:122002626 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230401]|Nephrolithiasis/nephrocalcinosis [RCV004022773]|not specified [RCV000498184] Chr3:122261548 [GRCh38]
Chr3:121980395 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000470653]|Nephrolithiasis/nephrocalcinosis [RCV004022759] Chr3:122284190 [GRCh38]
Chr3:122003037 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) single nucleotide variant CASR-related disorder [RCV004758691]|Familial hypocalciuric hypercalcemia 1 [RCV002481454]|Familial hypocalciuric hypercalcemia [RCV000470797]|Nephrolithiasis/nephrocalcinosis [RCV004022766] Chr3:122284391 [GRCh38]
Chr3:122003238 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2540G>A (p.Gly847Asp) single nucleotide variant Hypercalcemia [RCV005250059]|not provided [RCV000479833] Chr3:122284494 [GRCh38]
Chr3:122003341 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2028G>A (p.Thr676=) single nucleotide variant CASR-related disorder [RCV004554783]|Familial hypocalciuric hypercalcemia [RCV000459738]|Nephrolithiasis/nephrocalcinosis [RCV004022999] Chr3:122283982 [GRCh38]
Chr3:122002829 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1913G>A (p.Arg638His) single nucleotide variant CASR-related disorder [RCV004554780]|Familial hypocalciuric hypercalcemia 1 [RCV002489065]|Familial hypocalciuric hypercalcemia [RCV000459788]|Nephrolithiasis/nephrocalcinosis [RCV004022764] Chr3:122283867 [GRCh38]
Chr3:122002714 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2672G>A (p.Arg891His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000467153]|not provided [RCV001764432] Chr3:122284626 [GRCh38]
Chr3:122003473 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1212C>G (p.Val404=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001459492] Chr3:122262247 [GRCh38]
Chr3:121981094 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005250058]|Familial hypocalciuric hypercalcemia [RCV000527853]|Familial hypocalciuric hypercalcemia [RCV005407139]|Nephrolithiasis/nephrocalcinosis [RCV004992259]|not provided [RCV000484137]|not specified [RCV005230940] Chr3:122254250 [GRCh38]
Chr3:121973097 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.532A>G (p.Asn178Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230097]|Familial hypocalciuric hypercalcemia [RCV002271503] Chr3:122261567 [GRCh38]
Chr3:121980414 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) single nucleotide variant CASR-related disorder [RCV004554781]|Familial hypocalciuric hypercalcemia 1 [RCV001030008]|Familial hypocalciuric hypercalcemia 1 [RCV005027527]|Familial hypocalciuric hypercalcemia [RCV000463689]|Nephrolithiasis/nephrocalcinosis [RCV004022778]|See cases [RCV004584387]|not provided [RCV000493534]|not specified [RCV002268085] Chr3:122261883 [GRCh38]
Chr3:121980730 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.537A>G (p.Gln179=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002496834]|Familial hypocalciuric hypercalcemia [RCV000471231]|Nephrolithiasis/nephrocalcinosis [RCV004023002]|not specified [RCV000594797] Chr3:122261572 [GRCh38]
Chr3:121980419 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002481455]|Familial hypocalciuric hypercalcemia [RCV000471289] Chr3:122283966 [GRCh38]
Chr3:122002813 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000474973]|Familial hypocalciuric hypercalcemia [RCV002265771]|not provided [RCV002465660] Chr3:122284347 [GRCh38]
Chr3:122003194 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002525806]|not provided [RCV000482781] Chr3:122261612 [GRCh38]
Chr3:121980459 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489155]|Familial hypocalciuric hypercalcemia [RCV000543588]|Nephrolithiasis/nephrocalcinosis [RCV004023137]|not provided [RCV000480370] Chr3:122284967 [GRCh38]
Chr3:122003814 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.396A>G (p.Ser132=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001446533]|Nephrolithiasis/nephrocalcinosis [RCV004023003] Chr3:122257291 [GRCh38]
Chr3:121976138 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.514A>C (p.Arg172=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000460274]|Nephrolithiasis/nephrocalcinosis [RCV004022997] Chr3:122261549 [GRCh38]
Chr3:121980396 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230395] Chr3:122283791 [GRCh38]
Chr3:122002638 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002481453]|Familial hypocalciuric hypercalcemia [RCV000467679]|Nephrolithiasis/nephrocalcinosis [RCV004022763]|not provided [RCV003144271] Chr3:122283797 [GRCh38]
Chr3:122002644 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000471560]|Nephrolithiasis/nephrocalcinosis [RCV004022776] Chr3:122285012 [GRCh38]
Chr3:122003859 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000456724]|Nephrolithiasis/nephrocalcinosis [RCV004022777] Chr3:122284843 [GRCh38]
Chr3:122003690 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489066]|Familial hypocalciuric hypercalcemia [RCV000456763]|Nephrolithiasis/nephrocalcinosis [RCV004022768]|not specified [RCV001821282] Chr3:122275912 [GRCh38]
Chr3:121994759 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000694537]|Hypercalcemia [RCV002272251]|not provided [RCV000480926]|not specified [RCV003226303] Chr3:122261601 [GRCh38]
Chr3:121980448 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2669G>A (p.Arg890His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002481452]|Familial hypocalciuric hypercalcemia [RCV000460686]|Nephrolithiasis/nephrocalcinosis [RCV004022762] Chr3:122284623 [GRCh38]
Chr3:122003470 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230094] Chr3:122275960 [GRCh38]
Chr3:121994807 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.725T>G (p.Leu242Arg) single nucleotide variant not provided [RCV000481329] Chr3:122261760 [GRCh38]
Chr3:121980607 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.751G>C (p.Glu251Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230399] Chr3:122261786 [GRCh38]
Chr3:121980633 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 8 [RCV001824137]|Familial hypocalciuric hypercalcemia [RCV000468370]|Familial hypocalciuric hypercalcemia [RCV003323549]|Nephrolithiasis/nephrocalcinosis [RCV004022772]|not provided [RCV000991736] Chr3:122275827 [GRCh38]
Chr3:121994674 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2687G>A (p.Arg896His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002480419]|Familial hypocalciuric hypercalcemia [RCV000468483]|Nephrolithiasis/nephrocalcinosis [RCV004022781] Chr3:122284641 [GRCh38]
Chr3:122003488 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.57C>T (p.Ala19=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000457477]|Nephrolithiasis/nephrocalcinosis [RCV004023006]|not provided [RCV001770365] Chr3:122254246 [GRCh38]
Chr3:121973093 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001144947]|Familial hypocalciuric hypercalcemia 1 [RCV001146896]|Familial hypocalciuric hypercalcemia 1 [RCV002481456]|Familial hypocalciuric hypercalcemia [RCV000472371]|Familial hypoparathyroidism [RCV001144948]|Neonatal severe primary hyperparathyroidism [RCV001144946]|Nephrolithiasis/nephrocalcinosis [RCV004022771]|not provided [RCV003488617] Chr3:122261684 [GRCh38]
Chr3:121980531 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.499T>A (p.Tyr167Asn) single nucleotide variant not provided [RCV000486088] Chr3:122261534 [GRCh38]
Chr3:121980381 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005033986]|Familial hypocalciuric hypercalcemia [RCV002230400]|Familial hypocalciuric hypercalcemia [RCV002307504]|not provided [RCV001289355] Chr3:122283992 [GRCh38]
Chr3:122002839 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000465116] Chr3:122282156 [GRCh38]
Chr3:122001003 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1826C>T (p.Thr609Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000465141]|Nephrolithiasis/nephrocalcinosis [RCV004022770] Chr3:122283780 [GRCh38]
Chr3:122002627 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000472590]|Nephrolithiasis/nephrocalcinosis [RCV004022761]|not provided [RCV001764431] Chr3:122254323 [GRCh38]
Chr3:121973170 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230397] Chr3:122257179 [GRCh38]
Chr3:121976026 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.258C>A (p.Ala86=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000476451] Chr3:122257153 [GRCh38]
Chr3:121976000 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.906C>T (p.Ser302=) single nucleotide variant CASR-related disorder [RCV004554784]|Familial hypocalciuric hypercalcemia [RCV000469064]|Nephrolithiasis/nephrocalcinosis [RCV004023000]|not provided [RCV003424036]|not specified [RCV003320658] Chr3:122261941 [GRCh38]
Chr3:121980788 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000469103]|Nephrolithiasis/nephrocalcinosis [RCV004022765]|not provided [RCV003226932]|not specified [RCV001527058] Chr3:122285009 [GRCh38]
Chr3:122003856 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000476640]|Nephrolithiasis/nephrocalcinosis [RCV004022758]|not specified [RCV001553724] Chr3:122261792 [GRCh38]
Chr3:121980639 [GRCh37]
Chr3:3q21.1		 benign|uncertain significance
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001366550]|not provided [RCV000482196]|not specified [RCV004701533] Chr3:122261583 [GRCh38]
Chr3:121980430 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.395C>T (p.Ser132Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000461913]|Nephrolithiasis/nephrocalcinosis [RCV004022775] Chr3:122257290 [GRCh38]
Chr3:121976137 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.909C>G (p.Ser303=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002496835]|Familial hypocalciuric hypercalcemia [RCV000465691]|Nephrolithiasis/nephrocalcinosis [RCV004023004]|not provided [RCV003424037] Chr3:122261944 [GRCh38]
Chr3:121980791 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.780A>G (p.Gln260=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001406835]|Nephrolithiasis/nephrocalcinosis [RCV004022998] Chr3:122261815 [GRCh38]
Chr3:121980662 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.288G>A (p.Arg96=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001474109]|Nephrolithiasis/nephrocalcinosis [RCV004023007] Chr3:122257183 [GRCh38]
Chr3:121976030 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230096] Chr3:122262053 [GRCh38]
Chr3:121980900 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1713G>A (p.Gly571=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000477013]|Nephrolithiasis/nephrocalcinosis [RCV004023001] Chr3:122282217 [GRCh38]
Chr3:122001064 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.92A>G (p.Asp31Gly) single nucleotide variant not provided [RCV000478034] Chr3:122254281 [GRCh38]
Chr3:121973128 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.893C>T (p.Ala298Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230961]|not provided [RCV000486912]|not specified [RCV003235243] Chr3:122261928 [GRCh38]
Chr3:121980775 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) indel Familial hypocalciuric hypercalcemia [RCV000465913] Chr3:122254353..122254354 [GRCh38]
Chr3:121973200..121973201 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2769A>G (p.Pro923=) single nucleotide variant CASR-related disorder [RCV004554785]|Familial hypocalciuric hypercalcemia [RCV000469608]|Nephrolithiasis/nephrocalcinosis [RCV004023005] Chr3:122284723 [GRCh38]
Chr3:122003570 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000469659]|Nephrolithiasis/nephrocalcinosis [RCV004022760] Chr3:122284088 [GRCh38]
Chr3:122002935 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1624_1626del (p.Cys542del) deletion Familial hypocalciuric hypercalcemia [RCV000473355] Chr3:122282127..122282129 [GRCh38]
Chr3:122000974..122000976 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004787733]|Familial hypocalciuric hypercalcemia [RCV002230396]|not provided [RCV000711043] Chr3:122261562 [GRCh38]
Chr3:121980409 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002230098]|Neonatal severe primary hyperparathyroidism [RCV001542562]|not specified [RCV000497658] Chr3:122257311 [GRCh38]
Chr3:121976158 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002496781]|Familial hypocalciuric hypercalcemia [RCV000466085]|Nephrolithiasis/nephrocalcinosis [RCV004022769] Chr3:122262389 [GRCh38]
Chr3:121981236 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000469851]|Nephrolithiasis/nephrocalcinosis [RCV004022767]|not specified [RCV001805071] Chr3:122262362 [GRCh38]
Chr3:121981209 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup) duplication Familial hypocalciuric hypercalcemia [RCV002230402] Chr3:122284035..122284036 [GRCh38]
Chr3:122002882..122002883 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+1_1732+10delinsTG indel Familial hypocalciuric hypercalcemia [RCV003153634] Chr3:122282237..122282246 [GRCh38]
Chr3:122001084..122001093 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs) indel not provided [RCV000479940] Chr3:122284108 [GRCh38]
Chr3:122002955 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027545]|Familial hypocalciuric hypercalcemia [RCV002525831]|not provided [RCV000684751] Chr3:122262224 [GRCh38]
Chr3:121981071 [GRCh37]
Chr3:3q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV004760513]|Familial hypocalciuric hypercalcemia 1 [RCV002480418]|Familial hypocalciuric hypercalcemia [RCV000458780] Chr3:122261891 [GRCh38]
Chr3:121980738 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000458850] Chr3:122261543 [GRCh38]
Chr3:121980390 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2147G>A (p.Arg716His) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001145146]|Familial hypocalciuric hypercalcemia 1 [RCV001147114]|Familial hypocalciuric hypercalcemia 1 [RCV002481457]|Familial hypocalciuric hypercalcemia [RCV000477532]|Familial hypoparathyroidism [RCV001145145]|Neonatal severe primary hyperparathyroidism [RCV001145144]|Nephrolithiasis/nephrocalcinosis [RCV004022774]|not specified [RCV003226297] Chr3:122284101 [GRCh38]
Chr3:122002948 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3236A>G (p.Ter1079=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001478545] Chr3:122285190 [GRCh38]
Chr3:122004037 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001851368]|not provided [RCV000498666] Chr3:122282192 [GRCh38]
Chr3:122001039 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.-10C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001146801]|Familial hypocalciuric hypercalcemia 1 [RCV001144836]|Familial hypoparathyroidism [RCV001144834]|Neonatal severe primary hyperparathyroidism [RCV001144835]|not provided [RCV000497412] Chr3:122254180 [GRCh38]
Chr3:121973027 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002496905]|Familial hypocalciuric hypercalcemia 1 [RCV005252930]|Familial hypocalciuric hypercalcemia [RCV000542291]|Familial hypocalciuric hypercalcemia [RCV005239095]|Neonatal severe primary hyperparathyroidism [RCV002289683]|not provided [RCV000498127] Chr3:122261693 [GRCh38]
Chr3:121980540 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|not provided
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003766803]|not provided [RCV000498268] Chr3:122282177 [GRCh38]
Chr3:122001024 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.3010del (p.Ser1004fs) deletion not provided [RCV000494302] Chr3:122284964 [GRCh38]
Chr3:122003811 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004992275]|not provided [RCV000494358] Chr3:122261684 [GRCh38]
Chr3:121980531 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1837G>A (p.Gly613Arg) single nucleotide variant not provided [RCV000494527] Chr3:122283791 [GRCh38]
Chr3:122002638 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000491681] Chr3:122261551 [GRCh38]
Chr3:121980398 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1449T>C (p.Gly483=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231377] Chr3:122275883 [GRCh38]
Chr3:121994730 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2280C>A (p.Ile760=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000532321]|Nephrolithiasis/nephrocalcinosis [RCV004023951] Chr3:122284234 [GRCh38]
Chr3:122003081 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.937G>A (p.Val313Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001229178]|Nephrolithiasis/nephrocalcinosis [RCV004032660] Chr3:122261972 [GRCh38]
Chr3:121980819 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1827G>A (p.Thr609=) single nucleotide variant CASR-related disorder [RCV004554799]|Familial hypocalciuric hypercalcemia [RCV000537896]|Nephrolithiasis/nephrocalcinosis [RCV004023941] Chr3:122283781 [GRCh38]
Chr3:122002628 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1437T>C (p.Phe479=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000539124]|Nephrolithiasis/nephrocalcinosis [RCV004609433] Chr3:122275871 [GRCh38]
Chr3:121994718 [GRCh37]
Chr3:3q21.1		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_000388.4(CASR):c.981C>G (p.Ile327Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000558888] Chr3:122262016 [GRCh38]
Chr3:121980863 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.384C>A (p.Phe128Leu) single nucleotide variant Inborn genetic diseases [RCV000623375] Chr3:122257279 [GRCh38]
Chr3:121976126 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231729]|Nephrolithiasis/nephrocalcinosis [RCV004023928] Chr3:122262189 [GRCh38]
Chr3:121981036 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231740] Chr3:122284905 [GRCh38]
Chr3:122003752 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027636]|Familial hypocalciuric hypercalcemia [RCV002231744] Chr3:122284964 [GRCh38]
Chr3:122003811 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.864C>T (p.Ile288=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000560265] Chr3:122261899 [GRCh38]
Chr3:121980746 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2806C>T (p.Leu936=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231739] Chr3:122284760 [GRCh38]
Chr3:122003607 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232781] Chr3:122284745 [GRCh38]
Chr3:122003592 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002492995]|Familial hypocalciuric hypercalcemia [RCV000639430]|Nephrolithiasis/nephrocalcinosis [RCV004025544] Chr3:122283866 [GRCh38]
Chr3:122002713 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639431] Chr3:122276015 [GRCh38]
Chr3:121994862 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2635C>G (p.His879Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232608] Chr3:122284589 [GRCh38]
Chr3:122003436 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232609]|Nephrolithiasis/nephrocalcinosis [RCV004025554] Chr3:122283911 [GRCh38]
Chr3:122002758 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639452] Chr3:122285123 [GRCh38]
Chr3:122003970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000639461]|Nephrolithiasis/nephrocalcinosis [RCV004025559] Chr3:122284832 [GRCh38]
Chr3:122003679 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639470]|Nephrolithiasis/nephrocalcinosis [RCV004025563] Chr3:122283794 [GRCh38]
Chr3:122002641 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232614] Chr3:122257260 [GRCh38]
Chr3:121976107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232615] Chr3:122283914 [GRCh38]
Chr3:122002761 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2805G>A (p.Pro935=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232619]|Nephrolithiasis/nephrocalcinosis [RCV004025571] Chr3:122284759 [GRCh38]
Chr3:122003606 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.123T>C (p.His41=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639491]|Nephrolithiasis/nephrocalcinosis [RCV004025575] Chr3:122254312 [GRCh38]
Chr3:121973159 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002492996]|Familial hypocalciuric hypercalcemia [RCV000639498]|Hereditary cancer-predisposing syndrome [RCV002257885]|Nephrolithiasis/nephrocalcinosis [RCV004025582] Chr3:122285188 [GRCh38]
Chr3:122004035 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2971A>C (p.Asn991His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003153706] Chr3:122284925 [GRCh38]
Chr3:122003772 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231734] Chr3:122282198 [GRCh38]
Chr3:122001045 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.939G>A (p.Val313=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000533742]|Nephrolithiasis/nephrocalcinosis [RCV004023972]|not provided [RCV003424106] Chr3:122261974 [GRCh38]
Chr3:121980821 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000764462]|Familial hypocalciuric hypercalcemia [RCV000537669]|Nephrolithiasis/nephrocalcinosis [RCV004023926] Chr3:122262126 [GRCh38]
Chr3:121980973 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2550G>A (p.Ala850=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639502]|Nephrolithiasis/nephrocalcinosis [RCV004025584] Chr3:122284504 [GRCh38]
Chr3:122003351 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000029425]|Familial hypocalciuric hypercalcemia [RCV001852587] Chr3:122262093 [GRCh38]
Chr3:121980940 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000705981]|Nephrolithiasis/nephrocalcinosis [RCV004018678]|not provided [RCV000341520]|not specified [RCV000029426] Chr3:122254295 [GRCh38]
Chr3:121973142 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001322338]|not provided [RCV001725117]|not specified [RCV004700282] Chr3:122262279 [GRCh38]
Chr3:121981126 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1		 pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2		 pathogenic
NM_000388.4(CASR):c.2244G>C (p.Pro748=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001554701]|Familial hypocalciuric hypercalcemia 1 [RCV001554702]|Familial hypocalciuric hypercalcemia [RCV001519671]|Neonatal severe primary hyperparathyroidism [RCV001554700]|not provided [RCV004717069]|not specified [RCV000152932] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001554704]|Familial hypocalciuric hypercalcemia 1 [RCV001554828]|Familial hypocalciuric hypercalcemia [RCV001519672]|Neonatal severe primary hyperparathyroidism [RCV001554703]|not provided [RCV001723718]|not specified [RCV000152934] Chr3:122284985 [GRCh38]
Chr3:122003832 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1732+16T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001521743]|not provided [RCV000710097]|not specified [RCV000244539] Chr3:122282252 [GRCh38]
Chr3:122001099 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2148C>T (p.Arg716=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002001641]|Nephrolithiasis/nephrocalcinosis [RCV004990541] Chr3:122284102 [GRCh38]
Chr3:122002949 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034215]|Familial hypocalciuric hypercalcemia [RCV002233475]|Nephrolithiasis/nephrocalcinosis [RCV004025561] Chr3:122262159 [GRCh38]
Chr3:121981006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1647G>T (p.Gly549=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639474]|Nephrolithiasis/nephrocalcinosis [RCV005306111] Chr3:122282151 [GRCh38]
Chr3:122000998 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2916G>A (p.Thr972=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000465283]|Nephrolithiasis/nephrocalcinosis [RCV004022996] Chr3:122284870 [GRCh38]
Chr3:122003717 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.509C>G (p.Ser170Cys) single nucleotide variant not provided [RCV003307370] Chr3:122261544 [GRCh38]
Chr3:121980391 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002234527] Chr3:122262210 [GRCh38]
Chr3:121981057 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.752A>G (p.Glu251Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639425]|Nephrolithiasis/nephrocalcinosis [RCV004025542] Chr3:122261787 [GRCh38]
Chr3:121980634 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.463A>G (p.Asn155Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639433] Chr3:122257358 [GRCh38]
Chr3:121976205 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.505T>C (p.Ser169Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232604] Chr3:122261540 [GRCh38]
Chr3:121980387 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232610] Chr3:122262315 [GRCh38]
Chr3:121981162 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.155A>G (p.Lys52Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232611] Chr3:122254344 [GRCh38]
Chr3:121973191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1110G>A (p.Val370=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001085773]|Nephrolithiasis/nephrocalcinosis [RCV004025557]|not provided [RCV000733764] Chr3:122262145 [GRCh38]
Chr3:121980992 [GRCh37]
Chr3:3q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.1851C>A (p.Thr617=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232617] Chr3:122283805 [GRCh38]
Chr3:122002652 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2145C>T (p.His715=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639494]|Nephrolithiasis/nephrocalcinosis [RCV004025578]|not provided [RCV005243316] Chr3:122284099 [GRCh38]
Chr3:122002946 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.474G>C (p.Gly158=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639500]|Nephrolithiasis/nephrocalcinosis [RCV004025583] Chr3:122257369 [GRCh38]
Chr3:121976216 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231735]|Nephrolithiasis/nephrocalcinosis [RCV004023950] Chr3:122284215 [GRCh38]
Chr3:122003062 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1173C>T (p.Phe391=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001428245]|Nephrolithiasis/nephrocalcinosis [RCV004024984]|not specified [RCV000611255] Chr3:122262208 [GRCh38]
Chr3:121981055 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3013G>C (p.Asp1005His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002231745] Chr3:122284967 [GRCh38]
Chr3:122003814 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) single nucleotide variant CASR-related disorder [RCV004554802]|Familial hypocalciuric hypercalcemia 1 [RCV002476146]|Familial hypocalciuric hypercalcemia [RCV000535785]|Nephrolithiasis/nephrocalcinosis [RCV004023952] Chr3:122284505 [GRCh38]
Chr3:122003352 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1377+17T>C single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002506467]|Familial hypocalciuric hypercalcemia [RCV002064077]|not specified [RCV000614763] Chr3:122262429 [GRCh38]
Chr3:121981276 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002497121]|Familial hypocalciuric hypercalcemia [RCV000536379]|Nephrolithiasis/nephrocalcinosis [RCV004023964] Chr3:122285174 [GRCh38]
Chr3:122004021 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232607]|not provided [RCV001816589] Chr3:122283990 [GRCh38]
Chr3:122002837 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002507088]|Familial hypocalciuric hypercalcemia [RCV000639424]|Nephrolithiasis/nephrocalcinosis [RCV004025541]|not specified [RCV005240369] Chr3:122282126 [GRCh38]
Chr3:122000973 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232603] Chr3:122284208 [GRCh38]
Chr3:122003055 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.125T>C (p.Phe42Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232605] Chr3:122254314 [GRCh38]
Chr3:121973161 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232782] Chr3:122262339 [GRCh38]
Chr3:121981186 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1238A>T (p.His413Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639444]|Nephrolithiasis/nephrocalcinosis [RCV004025550] Chr3:122262273 [GRCh38]
Chr3:121981120 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002483826]|Familial hypocalciuric hypercalcemia [RCV000639449]|Nephrolithiasis/nephrocalcinosis [RCV004025553]|not provided [RCV001756062] Chr3:122275897 [GRCh38]
Chr3:121994744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233472]|Nephrolithiasis/nephrocalcinosis [RCV004025555] Chr3:122275894 [GRCh38]
Chr3:121994741 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln) single nucleotide variant CASR-related disorder [RCV004554815]|Familial hypocalciuric hypercalcemia [RCV002232783]|not specified [RCV005407831] Chr3:122275816 [GRCh38]
Chr3:121994663 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002499075]|Familial hypocalciuric hypercalcemia [RCV000639467]|not provided [RCV000657571] Chr3:122261714 [GRCh38]
Chr3:121980561 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2973T>C (p.Asn991=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639477]|Nephrolithiasis/nephrocalcinosis [RCV004025565] Chr3:122284927 [GRCh38]
Chr3:122003774 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.960C>T (p.Phe320=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639478]|Nephrolithiasis/nephrocalcinosis [RCV004025566] Chr3:122261995 [GRCh38]
Chr3:121980842 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3063G>C (p.Thr1021=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639479]|Nephrolithiasis/nephrocalcinosis [RCV004992430] Chr3:122285017 [GRCh38]
Chr3:122003864 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2838G>A (p.Gln946=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000639488]|Nephrolithiasis/nephrocalcinosis [RCV004025572]|not specified [RCV005231215] Chr3:122284792 [GRCh38]
Chr3:122003639 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001149876]|Familial hypocalciuric hypercalcemia 1 [RCV001145542]|Familial hypocalciuric hypercalcemia [RCV001087594]|Familial hypoparathyroidism [RCV001145541]|Neonatal severe primary hyperparathyroidism [RCV001149875]|Nephrolithiasis/nephrocalcinosis [RCV004025574]|not provided [RCV000711040] Chr3:122285188 [GRCh38]
Chr3:122004035 [GRCh37]
Chr3:3q21.1		 benign|likely benign|uncertain significance
NM_000388.4(CASR):c.2964C>G (p.Ala988=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232785]|Nephrolithiasis/nephrocalcinosis [RCV004025576] Chr3:122284918 [GRCh38]
Chr3:122003765 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.322T>C (p.Leu108=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001406346]|Nephrolithiasis/nephrocalcinosis [RCV004025579] Chr3:122257217 [GRCh38]
Chr3:121976064 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.551T>C (p.Leu184Pro) single nucleotide variant not specified [RCV000518317] Chr3:122261586 [GRCh38]
Chr3:121980433 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1456G>A (p.Val486Met) single nucleotide variant Inborn genetic diseases [RCV000624278] Chr3:122275890 [GRCh38]
Chr3:121994737 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.28C>A (p.Leu10Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000700726]|Nephrolithiasis/nephrocalcinosis [RCV004026526] Chr3:122254217 [GRCh38]
Chr3:121973064 [GRCh37]
Chr3:3q21.1		 uncertain significance
CASR, THR972MET single nucleotide variant Hypocalciuric hypercalcemia, familial, type 1 [RCV000664401] Chr3:3q13.33-21.1 pathogenic
CASR, ARG886PRO variation Hypocalciuric hypercalcemia, familial, type 1 [RCV000664400] Chr3:3q13.33-21.1 pathogenic
NM_000388.4(CASR):c.492+5T>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000699862]|Nephrolithiasis/nephrocalcinosis [RCV004026491]|not specified [RCV002268260] Chr3:122257392 [GRCh38]
Chr3:121976239 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.891G>T (p.Glu297Asp) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV000679940] Chr3:122261926 [GRCh38]
Chr3:121980773 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1		 pathogenic
NM_000388.4(CASR):c.857G>A (p.Arg286His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485705]|Familial hypocalciuric hypercalcemia [RCV002233648]|Nephrolithiasis/nephrocalcinosis [RCV004601251] Chr3:122261892 [GRCh38]
Chr3:121980739 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485594]|Familial hypocalciuric hypercalcemia [RCV000686021]|Nephrolithiasis/nephrocalcinosis [RCV004026220] Chr3:122262175 [GRCh38]
Chr3:121981022 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485595]|Familial hypocalciuric hypercalcemia [RCV000686023]|Nephrolithiasis/nephrocalcinosis [RCV004026221] Chr3:122262184 [GRCh38]
Chr3:121981031 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2165del (p.Asn722fs) deletion not provided [RCV000681941] Chr3:122284118 [GRCh38]
Chr3:122002965 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001231195]|Neonatal severe primary hyperparathyroidism [RCV003225115]|not provided [RCV000711027] Chr3:122254290 [GRCh38]
Chr3:121973137 [GRCh37]
Chr3:3q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001861956]|not provided [RCV000711028] Chr3:122262344 [GRCh38]
Chr3:121981191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001037611]|not provided [RCV000711030] Chr3:122282197 [GRCh38]
Chr3:122001044 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001372372]|Nephrolithiasis/nephrocalcinosis [RCV004026794]|not provided [RCV000711031] Chr3:122257092 [GRCh38]
Chr3:121975939 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000987309]|Familial hypocalciuric hypercalcemia [RCV000687843]|Nephrolithiasis/nephrocalcinosis [RCV004026278] Chr3:122254200 [GRCh38]
Chr3:121973047 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1075C>T (p.His359Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233162]|Nephrolithiasis/nephrocalcinosis [RCV004026285] Chr3:122262110 [GRCh38]
Chr3:121980957 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.494T>G (p.Val165Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000686284]|Neonatal severe primary hyperparathyroidism [RCV003483704]|Nephrolithiasis/nephrocalcinosis [RCV004026232]|not specified [RCV003387911] Chr3:122261529 [GRCh38]
Chr3:121980376 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance|not provided
NM_000388.4(CASR):c.1419G>A (p.Met473Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233355] Chr3:122275853 [GRCh38]
Chr3:121994700 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000701525]|Nephrolithiasis/nephrocalcinosis [RCV004026561] Chr3:122284208 [GRCh38]
Chr3:122003055 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233594]|Nephrolithiasis/nephrocalcinosis [RCV004025214] Chr3:122284875 [GRCh38]
Chr3:122003722 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001376143]|Familial hypocalciuric hypercalcemia [RCV000795756]|Nephrolithiasis/nephrocalcinosis [RCV004026795]|not provided [RCV000711039] Chr3:122284994 [GRCh38]
Chr3:122003841 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000809288]|not provided [RCV000711041] Chr3:122257224 [GRCh38]
Chr3:121976071 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003768099]|Nephrolithiasis/nephrocalcinosis [RCV004026796]|not provided [RCV000711042] Chr3:122257344 [GRCh38]
Chr3:121976191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002493182]|Familial hypocalciuric hypercalcemia [RCV000693054]|Nephrolithiasis/nephrocalcinosis [RCV004025143] Chr3:122284934 [GRCh38]
Chr3:122003781 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.179G>T (p.Cys60Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233556]|not provided [RCV002473113] Chr3:122254368 [GRCh38]
Chr3:121973215 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233705] Chr3:122284668 [GRCh38]
Chr3:122003515 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027876]|Familial hypocalciuric hypercalcemia [RCV000704630]|Nephrolithiasis/nephrocalcinosis [RCV004026666] Chr3:122284058 [GRCh38]
Chr3:122002905 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1180C>G (p.Leu394Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233445] Chr3:122262215 [GRCh38]
Chr3:121981062 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.789G>A (p.Thr263=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000690604]|Nephrolithiasis/nephrocalcinosis [RCV004025060] Chr3:122261824 [GRCh38]
Chr3:121980671 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) deletion Familial hypocalciuric hypercalcemia [RCV002233710] Chr3:122257288..122257302 [GRCh38]
Chr3:121976135..121976149 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000690796] Chr3:122283766 [GRCh38]
Chr3:122002613 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485666]|Familial hypocalciuric hypercalcemia [RCV002233255]|Nephrolithiasis/nephrocalcinosis [RCV004025167] Chr3:122284163 [GRCh38]
Chr3:122003010 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.41C>T (p.Thr14Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000705581] Chr3:122254230 [GRCh38]
Chr3:121973077 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2230T>C (p.Tyr744His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232985]|Nephrolithiasis/nephrocalcinosis [RCV004026703] Chr3:122284184 [GRCh38]
Chr3:122003031 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.638C>T (p.Ala213Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232821]|not provided [RCV003326509] Chr3:122261673 [GRCh38]
Chr3:121980520 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232884] Chr3:122285076 [GRCh38]
Chr3:122003923 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.712G>C (p.Asp238His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233185] Chr3:122261747 [GRCh38]
Chr3:121980594 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.787A>G (p.Thr263Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233234]|Nephrolithiasis/nephrocalcinosis [RCV004025103] Chr3:122261822 [GRCh38]
Chr3:121980669 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.460G>C (p.Ala154Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232828] Chr3:122257355 [GRCh38]
Chr3:121976202 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232898]|Nephrolithiasis/nephrocalcinosis [RCV004026511] Chr3:122284279 [GRCh38]
Chr3:122003126 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1888G>C (p.Val630Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233129] Chr3:122283842 [GRCh38]
Chr3:122002689 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.884C>G (p.Ala295Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233138] Chr3:122261919 [GRCh38]
Chr3:121980766 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001053679]|not provided [RCV000711033] Chr3:122284065 [GRCh38]
Chr3:122002912 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.554G>C (p.Arg185Pro) single nucleotide variant not provided [RCV000711044] Chr3:122261589 [GRCh38]
Chr3:121980436 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.936C>G (p.His312Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000704054]|Nephrolithiasis/nephrocalcinosis [RCV004026651] Chr3:122261971 [GRCh38]
Chr3:121980818 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000987313]|Familial hypocalciuric hypercalcemia [RCV000692774]|Nephrolithiasis/nephrocalcinosis [RCV004025131]|not provided [RCV000998129] Chr3:122284721 [GRCh38]
Chr3:122003568 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) single nucleotide variant CASR-related disorder [RCV004758724]|Familial hypocalciuric hypercalcemia 1 [RCV002485682]|Familial hypocalciuric hypercalcemia [RCV000694909]|Nephrolithiasis/nephrocalcinosis [RCV004025222] Chr3:122262228 [GRCh38]
Chr3:121981075 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000702074]|Nephrolithiasis/nephrocalcinosis [RCV004026580]|not provided [RCV002253569] Chr3:122262241 [GRCh38]
Chr3:121981088 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2105T>C (p.Val702Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233599]|Nephrolithiasis/nephrocalcinosis [RCV004993960] Chr3:122284059 [GRCh38]
Chr3:122002906 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1389C>A (p.His463Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000695489]|Nephrolithiasis/nephrocalcinosis [RCV004025244] Chr3:122275823 [GRCh38]
Chr3:121994670 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.10T>C (p.Tyr4His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233448]|Nephrolithiasis/nephrocalcinosis [RCV004026752] Chr3:122254199 [GRCh38]
Chr3:121973046 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034319]|Familial hypocalciuric hypercalcemia [RCV000702696]|Nephrolithiasis/nephrocalcinosis [RCV004026603]|not provided [RCV003480791] Chr3:122275890 [GRCh38]
Chr3:121994737 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.107G>T (p.Gly36Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233725]|not specified [RCV003403637] Chr3:122254296 [GRCh38]
Chr3:121973143 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233616] Chr3:122284679 [GRCh38]
Chr3:122003526 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) indel Familial hypocalciuric hypercalcemia [RCV002532337] Chr3:122257094 [GRCh38]
Chr3:121975941 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.844G>A (p.Glu282Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000703129]|Nephrolithiasis/nephrocalcinosis [RCV004026619] Chr3:122261879 [GRCh38]
Chr3:121980726 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000697929]|Nephrolithiasis/nephrocalcinosis [RCV004026420] Chr3:122285057 [GRCh38]
Chr3:122003904 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.610T>C (p.Phe204Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233264]|Nephrolithiasis/nephrocalcinosis [RCV004025182] Chr3:122261645 [GRCh38]
Chr3:121980492 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.445G>A (p.Val149Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005027854]|Familial hypocalciuric hypercalcemia [RCV000691472]|Nephrolithiasis/nephrocalcinosis [RCV004025089] Chr3:122257340 [GRCh38]
Chr3:121976187 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3203G>A (p.Gly1068Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000698591] Chr3:122285157 [GRCh38]
Chr3:122004004 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002232886]|Nephrolithiasis/nephrocalcinosis [RCV004026315] Chr3:122257145 [GRCh38]
Chr3:121975992 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.839T>A (p.Ile280Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000696960] Chr3:122261874 [GRCh38]
Chr3:121980721 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1027G>A (p.Val343Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233356]|Nephrolithiasis/nephrocalcinosis [RCV004026546] Chr3:122262062 [GRCh38]
Chr3:121980909 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000686954]|Nephrolithiasis/nephrocalcinosis [RCV004026252]|not provided [RCV001756161] Chr3:122275846 [GRCh38]
Chr3:121994693 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000694515]|Nephrolithiasis/nephrocalcinosis [RCV004025198] Chr3:122262146 [GRCh38]
Chr3:121980993 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002485676]|Familial hypocalciuric hypercalcemia [RCV000694557]|Nephrolithiasis/nephrocalcinosis [RCV004025204] Chr3:122261900 [GRCh38]
Chr3:121980747 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233322] Chr3:122284820 [GRCh38]
Chr3:122003667 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2717C>T (p.Thr906Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233325]|Nephrolithiasis/nephrocalcinosis [RCV004026395] Chr3:122284671 [GRCh38]
Chr3:122003518 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002233190]|Nephrolithiasis/nephrocalcinosis [RCV004026329] Chr3:122254205 [GRCh38]
Chr3:121973052 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.239A>C (p.Glu80Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000806541]|Nephrolithiasis/nephrocalcinosis [RCV004028249] Chr3:122257134 [GRCh38]
Chr3:121975981 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_000388.4(CASR):c.96T>C (p.Ile32=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000871776]|Nephrolithiasis/nephrocalcinosis [RCV004027793] Chr3:122254285 [GRCh38]
Chr3:121973132 [GRCh37]
Chr3:3q21.1		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3		 pathogenic
NM_000388.4(CASR):c.1258G>A (p.Val420Met) single nucleotide variant not specified [RCV001553722] Chr3:122262293 [GRCh38]
Chr3:121981140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.466C>T (p.Leu156=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000894830]|Nephrolithiasis/nephrocalcinosis [RCV004028441] Chr3:122257361 [GRCh38]
Chr3:121976208 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.177A>G (p.Glu59=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000863029]|Nephrolithiasis/nephrocalcinosis [RCV004029325] Chr3:122254366 [GRCh38]
Chr3:121973213 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.472G>A (p.Gly158Arg) single nucleotide variant See cases [RCV004797951]|not specified [RCV001582353] Chr3:122257367 [GRCh38]
Chr3:121976214 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003768284]|not provided [RCV000760418] Chr3:122262209 [GRCh38]
Chr3:121981056 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2904_2924del (p.Gly969_Phe975del) deletion Familial hypocalciuric hypercalcemia [RCV001068048] Chr3:122284855..122284875 [GRCh38]
Chr3:122003702..122003722 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly) single nucleotide variant CASR-related disorder [RCV004554846]|Familial hypocalciuric hypercalcemia [RCV001043732]|Nephrolithiasis/nephrocalcinosis [RCV004031330] Chr3:122284979 [GRCh38]
Chr3:122003826 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.372C>G (p.Asn124Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV003315132]|Familial hypocalciuric hypercalcemia [RCV003777287] Chr3:122257267 [GRCh38]
Chr3:121976114 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2392C>T (p.Pro798Ser) single nucleotide variant not provided [RCV000991743] Chr3:122284346 [GRCh38]
Chr3:122003193 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2557T>G (p.Phe853Val) single nucleotide variant not provided [RCV000991747] Chr3:122284511 [GRCh38]
Chr3:122003358 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.818G>C (p.Gly273Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001067519] Chr3:122261853 [GRCh38]
Chr3:121980700 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.9T>G (p.Phe3Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001067696] Chr3:122254198 [GRCh38]
Chr3:121973045 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.929A>G (p.Tyr310Cys) single nucleotide variant not provided [RCV000998128] Chr3:122261964 [GRCh38]
Chr3:121980811 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2304C>G (p.Gly768=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000864859]|Nephrolithiasis/nephrocalcinosis [RCV004027633] Chr3:122284258 [GRCh38]
Chr3:122003105 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1236G>T (p.Thr412=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000982568]|Nephrolithiasis/nephrocalcinosis [RCV004030069] Chr3:122262271 [GRCh38]
Chr3:121981118 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.648C>T (p.Asp216=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000867510]|Nephrolithiasis/nephrocalcinosis [RCV004027702] Chr3:122261683 [GRCh38]
Chr3:121980530 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002505413]|Familial hypocalciuric hypercalcemia [RCV000951421]|Nephrolithiasis/nephrocalcinosis [RCV004029821] Chr3:122284972 [GRCh38]
Chr3:122003819 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+9del deletion Familial hypocalciuric hypercalcemia [RCV000951446] Chr3:122257396 [GRCh38]
Chr3:121976243 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.813C>A (p.Ser271=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002501276]|Familial hypocalciuric hypercalcemia [RCV000868374]|Nephrolithiasis/nephrocalcinosis [RCV004027723] Chr3:122261848 [GRCh38]
Chr3:121980695 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1962C>A (p.Leu654=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001446094]|Nephrolithiasis/nephrocalcinosis [RCV004027920] Chr3:122283916 [GRCh38]
Chr3:122002763 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3024C>T (p.Thr1008=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001456804]|Nephrolithiasis/nephrocalcinosis [RCV004027921] Chr3:122284978 [GRCh38]
Chr3:122003825 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2817C>T (p.Thr939=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001470135]|Nephrolithiasis/nephrocalcinosis [RCV004028325] Chr3:122284771 [GRCh38]
Chr3:122003618 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2016C>G (p.Pro672=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000865575]|Nephrolithiasis/nephrocalcinosis [RCV004027653] Chr3:122283970 [GRCh38]
Chr3:122002817 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2238G>T (p.Ala746=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001459904]|Nephrolithiasis/nephrocalcinosis [RCV004027774] Chr3:122284192 [GRCh38]
Chr3:122003039 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1509C>T (p.Ile503=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001418878]|Nephrolithiasis/nephrocalcinosis [RCV004029381] Chr3:122275943 [GRCh38]
Chr3:121994790 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2328G>A (p.Leu776=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000866976]|Nephrolithiasis/nephrocalcinosis [RCV004027683] Chr3:122284282 [GRCh38]
Chr3:122003129 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2901C>T (p.Ile967=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000982616] Chr3:122284855 [GRCh38]
Chr3:122003702 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2106C>T (p.Val702=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002538950]|Nephrolithiasis/nephrocalcinosis [RCV004027638] Chr3:122284060 [GRCh38]
Chr3:122002907 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2994G>A (p.Leu998=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002507513]|Familial hypocalciuric hypercalcemia [RCV000870727]|Nephrolithiasis/nephrocalcinosis [RCV004027781] Chr3:122284948 [GRCh38]
Chr3:122003795 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.783T>C (p.Asn261=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001395883]|Nephrolithiasis/nephrocalcinosis [RCV004994165] Chr3:122261818 [GRCh38]
Chr3:121980665 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2919C>T (p.Val973=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000915223]|Nephrolithiasis/nephrocalcinosis [RCV004029384] Chr3:122284873 [GRCh38]
Chr3:122003720 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.441A>G (p.Ser147=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001503761]|Nephrolithiasis/nephrocalcinosis [RCV004029656] Chr3:122257336 [GRCh38]
Chr3:121976183 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2910C>T (p.Ser970=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000876540]|Nephrolithiasis/nephrocalcinosis [RCV004027875] Chr3:122284864 [GRCh38]
Chr3:122003711 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.915C>T (p.Ile305=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000944248]|Nephrolithiasis/nephrocalcinosis [RCV004029754] Chr3:122261950 [GRCh38]
Chr3:121980797 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1176A>T (p.Arg392=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000983300]|Nephrolithiasis/nephrocalcinosis [RCV004030079] Chr3:122262211 [GRCh38]
Chr3:121981058 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2355C>T (p.Ala785=) single nucleotide variant CASR-related disorder [RCV004554837]|Familial hypocalciuric hypercalcemia [RCV001441335]|Nephrolithiasis/nephrocalcinosis [RCV004029547] Chr3:122284309 [GRCh38]
Chr3:122003156 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2898C>T (p.Val966=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000877192]|Nephrolithiasis/nephrocalcinosis [RCV004994095] Chr3:122284852 [GRCh38]
Chr3:122003699 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2388G>A (p.Lys796=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000876939]|Nephrolithiasis/nephrocalcinosis [RCV004027883] Chr3:122284342 [GRCh38]
Chr3:122003189 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005036338]|Familial hypocalciuric hypercalcemia [RCV001051110]|Nephrolithiasis/nephrocalcinosis [RCV004031586] Chr3:122262026 [GRCh38]
Chr3:121980873 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001054888]|Nephrolithiasis/nephrocalcinosis [RCV004031736] Chr3:122282164 [GRCh38]
Chr3:122001011 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1076A>G (p.His359Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001051183]|Nephrolithiasis/nephrocalcinosis [RCV004031589] Chr3:122262111 [GRCh38]
Chr3:121980958 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.172G>C (p.Val58Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001054997]|Nephrolithiasis/nephrocalcinosis [RCV004031739] Chr3:122254361 [GRCh38]
Chr3:121973208 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.634A>G (p.Ile212Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001070959] Chr3:122261669 [GRCh38]
Chr3:121980516 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2005A>C (p.Ile669Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001037443] Chr3:122283959 [GRCh38]
Chr3:122002806 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001055297]|Nephrolithiasis/nephrocalcinosis [RCV004031751] Chr3:122284980 [GRCh38]
Chr3:122003827 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1302A>G (p.Ile434Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001041074]|Nephrolithiasis/nephrocalcinosis [RCV004031237] Chr3:122262337 [GRCh38]
Chr3:121981184 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.444C>T (p.Gly148=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062132] Chr3:122257339 [GRCh38]
Chr3:121976186 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2434C>T (p.Leu812Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062163] Chr3:122284388 [GRCh38]
Chr3:122003235 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062165]|Nephrolithiasis/nephrocalcinosis [RCV004030448]|not provided [RCV004792701] Chr3:122262302 [GRCh38]
Chr3:121981149 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.118A>G (p.Ile40Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489676]|Familial hypocalciuric hypercalcemia [RCV001062218] Chr3:122254307 [GRCh38]
Chr3:121973154 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2840_2860dup (p.Pro947_Gln953dup) duplication Familial hypocalciuric hypercalcemia [RCV001038775] Chr3:122284786..122284787 [GRCh38]
Chr3:122003633..122003634 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.475C>G (p.Leu159Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062371]|Nephrolithiasis/nephrocalcinosis [RCV004030452] Chr3:122257370 [GRCh38]
Chr3:121976217 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001149543]|Familial hypocalciuric hypercalcemia 1 [RCV001148002]|Familial hypocalciuric hypercalcemia 1 [RCV002482012]|Familial hypocalciuric hypercalcemia [RCV001056128]|Familial hypoparathyroidism [RCV001148001]|Hereditary cancer-predisposing syndrome [RCV002258114]|Neonatal severe primary hyperparathyroidism [RCV001148003]|Nephrolithiasis/nephrocalcinosis [RCV004031776] Chr3:122284503 [GRCh38]
Chr3:122003350 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489714]|Familial hypocalciuric hypercalcemia [RCV001071263]|Nephrolithiasis/nephrocalcinosis [RCV004030781] Chr3:122284293 [GRCh38]
Chr3:122003140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1566C>A (p.Phe522Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001058726] Chr3:122276000 [GRCh38]
Chr3:121994847 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2559C>G (p.Phe853Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062046] Chr3:122284513 [GRCh38]
Chr3:122003360 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001071318]|Nephrolithiasis/nephrocalcinosis [RCV004030785] Chr3:122275930 [GRCh38]
Chr3:121994777 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2425T>A (p.Phe809Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001035466] Chr3:122284379 [GRCh38]
Chr3:122003226 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.846G>C (p.Glu282Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001053566]|Nephrolithiasis/nephrocalcinosis [RCV004031688] Chr3:122261881 [GRCh38]
Chr3:121980728 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-2A>G single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004031870]|Familial hypocalciuric hypercalcemia [RCV001059152] Chr3:122282111 [GRCh38]
Chr3:122000958 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1223A>G (p.Tyr408Cys) single nucleotide variant not specified [RCV001280589] Chr3:122262258 [GRCh38]
Chr3:121981105 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1663A>G (p.Ile555Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001037938]|not provided [RCV005235504]|not specified [RCV002465826] Chr3:122282167 [GRCh38]
Chr3:122001014 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002481930]|Familial hypocalciuric hypercalcemia [RCV001046969]|Nephrolithiasis/nephrocalcinosis [RCV004031460] Chr3:122262167 [GRCh38]
Chr3:121981014 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2807T>A (p.Leu936Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001038006] Chr3:122284761 [GRCh38]
Chr3:122003608 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001059824]|Nephrolithiasis/nephrocalcinosis [RCV004031898] Chr3:122285117 [GRCh38]
Chr3:122003964 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2301G>A (p.Glu767=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001048577]|Nephrolithiasis/nephrocalcinosis [RCV004031517]|not specified [RCV002268417] Chr3:122284255 [GRCh38]
Chr3:122003102 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001072070]|Nephrolithiasis/nephrocalcinosis [RCV004031167] Chr3:122284018 [GRCh38]
Chr3:122002865 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001196714]|Familial hypocalciuric hypercalcemia [RCV001036127] Chr3:122284625 [GRCh38]
Chr3:122003472 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4:c.2643_2644insAlu insertion Familial hypocalciuric hypercalcemia [RCV001089822] Chr3:3q13.33-21.1 pathogenic
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001051207]|Nephrolithiasis/nephrocalcinosis [RCV004031590] Chr3:122275912 [GRCh38]
Chr3:121994759 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1127G>T (p.Gly376Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001052095]|Nephrolithiasis/nephrocalcinosis [RCV004031627] Chr3:122262162 [GRCh38]
Chr3:121981009 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.873G>C (p.Lys291Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001057768]|Nephrolithiasis/nephrocalcinosis [RCV004994217] Chr3:122261908 [GRCh38]
Chr3:121980755 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000793755]|Nephrolithiasis/nephrocalcinosis [RCV004601276]|not specified [RCV003493734] Chr3:122284683 [GRCh38]
Chr3:122003530 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808149]|Neonatal severe primary hyperparathyroidism [RCV003483733]|not specified [RCV004702437] Chr3:122284232 [GRCh38]
Chr3:122003079 [GRCh37]
Chr3:3q21.1		 uncertain significance|not provided
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808599]|not provided [RCV000991737] Chr3:122282162 [GRCh38]
Chr3:122001009 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) single nucleotide variant CASR-related disorder [RCV004554824]|Familial hypocalciuric hypercalcemia 1 [RCV005029438]|Familial hypocalciuric hypercalcemia [RCV001238616]|Neonatal severe primary hyperparathyroidism [RCV000781967]|Nephrolithiasis/nephrocalcinosis [RCV004027327]|not provided [RCV001759477] Chr3:122284257 [GRCh38]
Chr3:122003104 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.197G>A (p.Arg66His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000806048]|Familial hypocalciuric hypercalcemia [RCV005240595]|Nephrolithiasis/nephrocalcinosis [RCV004028231]|not provided [RCV002264984] Chr3:122257092 [GRCh38]
Chr3:121975939 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2292G>A (p.Thr764=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000929256]|Nephrolithiasis/nephrocalcinosis [RCV004029545] Chr3:122284246 [GRCh38]
Chr3:122003093 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1977C>G (p.Leu659=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001503793] Chr3:122283931 [GRCh38]
Chr3:122002778 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2241C>G (p.Pro747=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000898332]|Nephrolithiasis/nephrocalcinosis [RCV004028483] Chr3:122284195 [GRCh38]
Chr3:122003042 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2142C>T (p.Phe714=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000906970]|Nephrolithiasis/nephrocalcinosis [RCV004028573] Chr3:122284096 [GRCh38]
Chr3:122002943 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.303C>T (p.Cys101=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000942883] Chr3:122257198 [GRCh38]
Chr3:121976045 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.54T>G (p.Ser18=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002502682]|Familial hypocalciuric hypercalcemia [RCV000904455]|Nephrolithiasis/nephrocalcinosis [RCV004028546] Chr3:122254243 [GRCh38]
Chr3:121973090 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2796G>A (p.Gln932=) single nucleotide variant not provided [RCV000937573] Chr3:122284750 [GRCh38]
Chr3:122003597 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2829G>A (p.Gln943=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000876684]|Nephrolithiasis/nephrocalcinosis [RCV004027877]|not provided [RCV002290487] Chr3:122284783 [GRCh38]
Chr3:122003630 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.185+10G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000876982] Chr3:122254384 [GRCh38]
Chr3:121973231 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3042C>A (p.Leu1014=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001397140] Chr3:122284996 [GRCh38]
Chr3:122003843 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1839G>A (p.Gly613=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000870108]|Nephrolithiasis/nephrocalcinosis [RCV004027769] Chr3:122283793 [GRCh38]
Chr3:122002640 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.108G>A (p.Gly36=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001151041]|Familial hypocalciuric hypercalcemia 1 [RCV001151043]|Familial hypocalciuric hypercalcemia [RCV000920998]|Familial hypoparathyroidism [RCV001151042]|Neonatal severe primary hyperparathyroidism [RCV001151044]|Nephrolithiasis/nephrocalcinosis [RCV004029461] Chr3:122254297 [GRCh38]
Chr3:121973144 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.276G>A (p.Thr92=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000865186]|Nephrolithiasis/nephrocalcinosis [RCV004027645] Chr3:122257171 [GRCh38]
Chr3:121976018 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1281T>C (p.Ile427=) single nucleotide variant CASR-related disorder [RCV004554839]|Familial hypocalciuric hypercalcemia [RCV000946089]|Nephrolithiasis/nephrocalcinosis [RCV004029779] Chr3:122262316 [GRCh38]
Chr3:121981163 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.654T>C (p.Tyr218=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000936991]|Nephrolithiasis/nephrocalcinosis [RCV004029647] Chr3:122261689 [GRCh38]
Chr3:121980536 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.27C>T (p.Val9=) single nucleotide variant CASR-related disorder [RCV004554830]|Familial hypocalciuric hypercalcemia 1 [RCV002495231]|Familial hypocalciuric hypercalcemia [RCV000863183]|Nephrolithiasis/nephrocalcinosis [RCV004029330]|not specified [RCV004702477] Chr3:122254216 [GRCh38]
Chr3:121973063 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1506C>A (p.Ser502=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000977128]|Nephrolithiasis/nephrocalcinosis [RCV004029999] Chr3:122275940 [GRCh38]
Chr3:121994787 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1611G>A (p.Val537=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000878898]|Nephrolithiasis/nephrocalcinosis [RCV004027919] Chr3:122282115 [GRCh38]
Chr3:122000962 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3078C>A (p.Thr1026=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001452970] Chr3:122285032 [GRCh38]
Chr3:122003879 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1452C>T (p.Asp484=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002478987]|Familial hypocalciuric hypercalcemia [RCV000873364]|Nephrolithiasis/nephrocalcinosis [RCV004027825] Chr3:122275886 [GRCh38]
Chr3:121994733 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1389C>T (p.His463=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001490981]|Nephrolithiasis/nephrocalcinosis [RCV004029432] Chr3:122275823 [GRCh38]
Chr3:121994670 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1236G>A (p.Thr412=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001431887]|Nephrolithiasis/nephrocalcinosis [RCV004029451] Chr3:122262271 [GRCh38]
Chr3:121981118 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2820G>A (p.Gln940=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001438218]|Nephrolithiasis/nephrocalcinosis [RCV004030041] Chr3:122284774 [GRCh38]
Chr3:122003621 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2928A>T (p.Ser976=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000863515]|Nephrolithiasis/nephrocalcinosis [RCV004029339] Chr3:122284882 [GRCh38]
Chr3:122003729 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-6C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000921917] Chr3:122275806 [GRCh38]
Chr3:121994653 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3129G>A (p.Glu1043=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000865534]|Nephrolithiasis/nephrocalcinosis [RCV004027651] Chr3:122285083 [GRCh38]
Chr3:122003930 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1416T>C (p.Asn472=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001505417]|Nephrolithiasis/nephrocalcinosis [RCV004994122] Chr3:122275850 [GRCh38]
Chr3:121994697 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3042C>T (p.Leu1014=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000928965] Chr3:122284996 [GRCh38]
Chr3:122003843 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2709A>G (p.Gly903=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001431876] Chr3:122284663 [GRCh38]
Chr3:122003510 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002290430]|Familial hypocalciuric hypercalcemia 1 [RCV002477802]|Familial hypocalciuric hypercalcemia [RCV000793144]|Nephrolithiasis/nephrocalcinosis [RCV004027435] Chr3:122283981 [GRCh38]
Chr3:122002828 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1891C>G (p.Leu631Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000796182]|Nephrolithiasis/nephrocalcinosis [RCV004027555] Chr3:122283845 [GRCh38]
Chr3:122002692 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.275C>T (p.Thr92Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000799255] Chr3:122257170 [GRCh38]
Chr3:121976017 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.867G>A (p.Thr289=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000802723]|Nephrolithiasis/nephrocalcinosis [RCV004028117] Chr3:122261902 [GRCh38]
Chr3:121980749 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000797766]|Nephrolithiasis/nephrocalcinosis [RCV004027930] Chr3:122283780 [GRCh38]
Chr3:122002627 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000823082] Chr3:122262069 [GRCh38]
Chr3:121980916 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000823304]|Nephrolithiasis/nephrocalcinosis [RCV004029139] Chr3:122284170 [GRCh38]
Chr3:122003017 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.232A>G (p.Ile78Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002487694]|Familial hypocalciuric hypercalcemia [RCV000801127]|Nephrolithiasis/nephrocalcinosis [RCV004028051] Chr3:122257127 [GRCh38]
Chr3:121975974 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1861G>A (p.Val621Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000817623]|Nephrolithiasis/nephrocalcinosis [RCV004028920]|not specified [RCV003396435] Chr3:122283815 [GRCh38]
Chr3:122002662 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1076A>T (p.His359Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000794063]|Nephrolithiasis/nephrocalcinosis [RCV004027469]|not provided [RCV003480825] Chr3:122262111 [GRCh38]
Chr3:121980958 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) single nucleotide variant Bartter disease type 3 [RCV003483725]|Familial hypocalciuric hypercalcemia [RCV000793750] Chr3:122284944 [GRCh38]
Chr3:122003791 [GRCh37]
Chr3:3q21.1		 uncertain significance|not provided
NM_000388.4(CASR):c.2182G>C (p.Val728Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000798413]|Nephrolithiasis/nephrocalcinosis [RCV004027955] Chr3:122284136 [GRCh38]
Chr3:122002983 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000797444]|Nephrolithiasis/nephrocalcinosis [RCV004027598] Chr3:122283976 [GRCh38]
Chr3:122002823 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000801239]|Nephrolithiasis/nephrocalcinosis [RCV004028056] Chr3:122285148 [GRCh38]
Chr3:122003995 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002478914]|Familial hypocalciuric hypercalcemia [RCV000819429] Chr3:122284053 [GRCh38]
Chr3:122002900 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000803085] Chr3:122262138 [GRCh38]
Chr3:121980985 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000823539]|Nephrolithiasis/nephrocalcinosis [RCV004029145] Chr3:122261597 [GRCh38]
Chr3:121980444 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.815G>A (p.Ser272Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000807070] Chr3:122261850 [GRCh38]
Chr3:121980697 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1169C>G (p.Ala390Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000823771] Chr3:122262204 [GRCh38]
Chr3:121981051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000794416]|Nephrolithiasis/nephrocalcinosis [RCV004027486]|not provided [RCV003238219] Chr3:122275968 [GRCh38]
Chr3:121994815 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000794573]|Nephrolithiasis/nephrocalcinosis [RCV004027492] Chr3:122285165 [GRCh38]
Chr3:122004012 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378G>A (p.Val460Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000801525]|Nephrolithiasis/nephrocalcinosis [RCV004028066] Chr3:122275812 [GRCh38]
Chr3:121994659 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2442C>T (p.Phe814=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000869666]|Nephrolithiasis/nephrocalcinosis [RCV004027758] Chr3:122284396 [GRCh38]
Chr3:122003243 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.657G>A (p.Gly219=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000915360]|Nephrolithiasis/nephrocalcinosis [RCV004029386] Chr3:122261692 [GRCh38]
Chr3:121980539 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.849T>C (p.Ile283=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001416701]|Nephrolithiasis/nephrocalcinosis [RCV004994155] Chr3:122261884 [GRCh38]
Chr3:121980731 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2315C>T (p.Ala772Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000824382]|Nephrolithiasis/nephrocalcinosis [RCV004029177] Chr3:122284269 [GRCh38]
Chr3:122003116 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.360T>G (p.Ile120Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000807902] Chr3:122257255 [GRCh38]
Chr3:121976102 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000798250] Chr3:122262098 [GRCh38]
Chr3:121980945 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2575A>C (p.Ile859Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000805310] Chr3:122284529 [GRCh38]
Chr3:122003376 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup) duplication Familial hypocalciuric hypercalcemia [RCV000818328]|Nephrolithiasis/nephrocalcinosis [RCV004028953] Chr3:122284724..122284725 [GRCh38]
Chr3:122003571..122003572 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.926A>C (p.Gln309Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000812092]|Nephrolithiasis/nephrocalcinosis [RCV004028758] Chr3:122261961 [GRCh38]
Chr3:121980808 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000816749]|Nephrolithiasis/nephrocalcinosis [RCV004028894] Chr3:122283953 [GRCh38]
Chr3:122002800 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.614G>A (p.Arg205His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002487830]|Familial hypocalciuric hypercalcemia [RCV000820179]|Nephrolithiasis/nephrocalcinosis [RCV004029030] Chr3:122261649 [GRCh38]
Chr3:121980496 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+5_185+18del deletion Familial hypocalciuric hypercalcemia [RCV000794462] Chr3:122254376..122254389 [GRCh38]
Chr3:121973223..121973236 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1423G>A (p.Glu475Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000820267]|Nephrolithiasis/nephrocalcinosis [RCV004029033] Chr3:122275857 [GRCh38]
Chr3:121994704 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.870C>T (p.Gly290=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808216]|Nephrolithiasis/nephrocalcinosis [RCV004028642] Chr3:122261905 [GRCh38]
Chr3:121980752 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.493-2A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808448] Chr3:122261526 [GRCh38]
Chr3:121980373 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1510G>C (p.Val504Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000791954] Chr3:122275944 [GRCh38]
Chr3:121994791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.969G>A (p.Lys323=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000818669]|Nephrolithiasis/nephrocalcinosis [RCV004994053] Chr3:122262004 [GRCh38]
Chr3:121980851 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000818715] Chr3:122262386 [GRCh38]
Chr3:121981233 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002501095]|Familial hypocalciuric hypercalcemia [RCV000808986]|Nephrolithiasis/nephrocalcinosis [RCV004028657] Chr3:122284592 [GRCh38]
Chr3:122003439 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2356A>G (p.Ile786Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000809088]|Nephrolithiasis/nephrocalcinosis [RCV004028659]|not provided [RCV004693333]|not specified [RCV002268300] Chr3:122284310 [GRCh38]
Chr3:122003157 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2194A>G (p.Thr732Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000792853] Chr3:122284148 [GRCh38]
Chr3:122002995 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2018A>G (p.Gln673Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000802383] Chr3:122283972 [GRCh38]
Chr3:122002819 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3153C>T (p.Ser1051=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000976949]|Nephrolithiasis/nephrocalcinosis [RCV004029996]|not specified [RCV003387949] Chr3:122285107 [GRCh38]
Chr3:122003954 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV001280856]|Familial hypocalciuric hypercalcemia [RCV000797057] Chr3:122284247 [GRCh38]
Chr3:122003094 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000809655]|Nephrolithiasis/nephrocalcinosis [RCV004028676] Chr3:122284153 [GRCh38]
Chr3:122003000 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1187C>G (p.Thr396Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000809685] Chr3:122262222 [GRCh38]
Chr3:121981069 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2082C>T (p.Cys694=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000793337]|Nephrolithiasis/nephrocalcinosis [RCV004027441] Chr3:122284036 [GRCh38]
Chr3:122002883 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000803221] Chr3:122284347 [GRCh38]
Chr3:122003194 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002487826]|Familial hypocalciuric hypercalcemia [RCV000819914]|Nephrolithiasis/nephrocalcinosis [RCV004029018] Chr3:122254287 [GRCh38]
Chr3:121973134 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.449C>A (p.Ser150Tyr) single nucleotide variant not provided [RCV000998127] Chr3:122257344 [GRCh38]
Chr3:121976191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2668C>T (p.Arg890Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000804124] Chr3:122284622 [GRCh38]
Chr3:122003469 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002495102]|Familial hypocalciuric hypercalcemia [RCV000806710]|Nephrolithiasis/nephrocalcinosis [RCV004028257] Chr3:122284115 [GRCh38]
Chr3:122002962 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000823872]|Nephrolithiasis/nephrocalcinosis [RCV004029165] Chr3:122275903 [GRCh38]
Chr3:121994750 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2239C>T (p.Pro747Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808059] Chr3:122284193 [GRCh38]
Chr3:122003040 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001146803]|Familial hypocalciuric hypercalcemia 1 [RCV001147690]|Familial hypocalciuric hypercalcemia 1 [RCV002507390]|Familial hypocalciuric hypercalcemia [RCV000802402]|Familial hypoparathyroidism [RCV001146802]|Neonatal severe primary hyperparathyroidism [RCV001146804]|Nephrolithiasis/nephrocalcinosis [RCV004028108]|not provided [RCV004792491]|not specified [RCV004702431] Chr3:122254221 [GRCh38]
Chr3:121973068 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1628G>C (p.Ser543Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000822043] Chr3:122282132 [GRCh38]
Chr3:122000979 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2280C>G (p.Ile760Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000802626] Chr3:122284234 [GRCh38]
Chr3:122003081 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1235C>T (p.Thr412Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000795003]|Nephrolithiasis/nephrocalcinosis [RCV004027512] Chr3:122262270 [GRCh38]
Chr3:121981117 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001066657]|Nephrolithiasis/nephrocalcinosis [RCV004599241] Chr3:122284970 [GRCh38]
Chr3:122003817 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.545C>T (p.Ser182Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000811794] Chr3:122261580 [GRCh38]
Chr3:121980427 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.550C>G (p.Leu184Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000812439] Chr3:122261585 [GRCh38]
Chr3:121980432 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1011T>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001148532]|Familial hypocalciuric hypercalcemia 1 [RCV001145768]|Familial hypoparathyroidism [RCV001148533]|Neonatal severe primary hyperparathyroidism [RCV001145769] Chr3:122286202 [GRCh38]
Chr3:122005049 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000794486]|not provided [RCV004792471] Chr3:122284581 [GRCh38]
Chr3:122003428 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.33G>A (p.Leu11=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000808692]|Nephrolithiasis/nephrocalcinosis [RCV004028651] Chr3:122254222 [GRCh38]
Chr3:121973069 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000811303]|Nephrolithiasis/nephrocalcinosis [RCV004028722] Chr3:122285066 [GRCh38]
Chr3:122003913 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2054G>C (p.Gly685Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000812194] Chr3:122284008 [GRCh38]
Chr3:122002855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2695T>C (p.Ser899Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000798400]|Nephrolithiasis/nephrocalcinosis [RCV004027954] Chr3:122284649 [GRCh38]
Chr3:122003496 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1043C>T (p.Ala348Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000818086] Chr3:122262078 [GRCh38]
Chr3:121980925 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2679C>T (p.Asn893=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001504086]|Nephrolithiasis/nephrocalcinosis [RCV004027814] Chr3:122284633 [GRCh38]
Chr3:122003480 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2102G>A (p.Arg701His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000798609]|Nephrolithiasis/nephrocalcinosis [RCV004027961]|not provided [RCV001766652] Chr3:122284056 [GRCh38]
Chr3:122002903 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029506]|Familial hypocalciuric hypercalcemia [RCV000818154]|Nephrolithiasis/nephrocalcinosis [RCV004028945]|not specified [RCV004689897] Chr3:122284757 [GRCh38]
Chr3:122003604 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000824471]|Nephrolithiasis/nephrocalcinosis [RCV004029179]|not specified [RCV003396459] Chr3:122257176 [GRCh38]
Chr3:121976023 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.277C>T (p.Leu93=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000875649]|Nephrolithiasis/nephrocalcinosis [RCV004027866]|not specified [RCV005236375] Chr3:122257172 [GRCh38]
Chr3:121976019 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000796050]|Nephrolithiasis/nephrocalcinosis [RCV004027551] Chr3:122283986 [GRCh38]
Chr3:122002833 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2840C>A (p.Pro947His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000805275] Chr3:122284794 [GRCh38]
Chr3:122003641 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3035C>A (p.Pro1012Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000822024] Chr3:122284989 [GRCh38]
Chr3:122003836 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup) microsatellite Familial hypocalciuric hypercalcemia [RCV000799062]|Nephrolithiasis/nephrocalcinosis [RCV004027980] Chr3:122284778..122284779 [GRCh38]
Chr3:122003625..122003626 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1225A>G (p.Ile409Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000802283]|Nephrolithiasis/nephrocalcinosis [RCV004028098]|not provided [RCV004693296] Chr3:122262260 [GRCh38]
Chr3:121981107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs) deletion Familial hypocalciuric hypercalcemia [RCV000818767]|Nephrolithiasis/nephrocalcinosis [RCV004028969] Chr3:122284616..122284631 [GRCh38]
Chr3:122003463..122003478 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1044C>A (p.Ala348=) single nucleotide variant CASR-related disorder [RCV004554833]|Familial hypocalciuric hypercalcemia [RCV000873384]|Nephrolithiasis/nephrocalcinosis [RCV004027826] Chr3:122262079 [GRCh38]
Chr3:121980926 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1505C>T (p.Ser502Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000822682] Chr3:122275939 [GRCh38]
Chr3:121994786 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.448_449dup (p.Thr151fs) microsatellite Familial hypocalciuric hypercalcemia [RCV000822790] Chr3:122257340..122257341 [GRCh38]
Chr3:121976187..121976188 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1341C>T (p.Gly447=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001479629] Chr3:122262376 [GRCh38]
Chr3:121981223 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2637C>G (p.His879Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000844892] Chr3:122284591 [GRCh38]
Chr3:122003438 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002487640]|Familial hypocalciuric hypercalcemia [RCV000792165] Chr3:122284293 [GRCh38]
Chr3:122003140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000816419]|Nephrolithiasis/nephrocalcinosis [RCV004028888] Chr3:122285033 [GRCh38]
Chr3:122003880 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005036213]|Familial hypocalciuric hypercalcemia [RCV000819937]|Nephrolithiasis/nephrocalcinosis [RCV004029021] Chr3:122284219 [GRCh38]
Chr3:122003066 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.635T>C (p.Ile212Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000813527] Chr3:122261670 [GRCh38]
Chr3:121980517 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3004A>C (p.Lys1002Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000800179]|Nephrolithiasis/nephrocalcinosis [RCV004028016] Chr3:122284958 [GRCh38]
Chr3:122003805 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+10G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001487115] Chr3:122254384 [GRCh38]
Chr3:121973231 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213415]|not provided [RCV000845022] Chr3:122284421 [GRCh38]
Chr3:122003268 [GRCh37]
Chr3:3q21.1		 uncertain significance|not provided
NM_000388.4(CASR):c.1009G>T (p.Val337Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000814208]|Nephrolithiasis/nephrocalcinosis [RCV004028812] Chr3:122262044 [GRCh38]
Chr3:121980891 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.50C>T (p.Thr17Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029472]|Familial hypocalciuric hypercalcemia [RCV000800988]|Nephrolithiasis/nephrocalcinosis [RCV004028045] Chr3:122254239 [GRCh38]
Chr3:121973086 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1620C>T (p.Ser540=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001465833] Chr3:122282124 [GRCh38]
Chr3:122000971 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000797961] Chr3:122284487 [GRCh38]
Chr3:122003334 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000817704]|Nephrolithiasis/nephrocalcinosis [RCV004028923] Chr3:122284550 [GRCh38]
Chr3:122003397 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.473G>A (p.Gly158Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001067948] Chr3:122257368 [GRCh38]
Chr3:121976215 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.90G>T (p.Gly30=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001067065] Chr3:122254279 [GRCh38]
Chr3:121973126 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2717C>A (p.Thr906Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001042975] Chr3:122284671 [GRCh38]
Chr3:122003518 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:121933635-121943859)x1 copy number loss not provided [RCV000742720] Chr3:121933635..121943859 [GRCh37]
Chr3:3q21.1		 benign
GRCh37/hg19 3q21.1(chr3:121976494-121978343)x4 copy number gain not provided [RCV000742721] Chr3:121976494..121978343 [GRCh37]
Chr3:3q21.1		 benign
GRCh37/hg19 3q21.1(chr3:121976494-121979229)x4 copy number gain not provided [RCV000742722] Chr3:121976494..121979229 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.1479C>T (p.Asn493=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000871851]|Nephrolithiasis/nephrocalcinosis [RCV004027798] Chr3:122275913 [GRCh38]
Chr3:121994760 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2235C>G (p.Thr745=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000960094]|Nephrolithiasis/nephrocalcinosis [RCV004029885] Chr3:122284189 [GRCh38]
Chr3:122003036 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.555A>T (p.Arg185=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001468501] Chr3:122261590 [GRCh38]
Chr3:121980437 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003315206] Chr3:122284314 [GRCh38]
Chr3:122003161 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.20G>T (p.Cys7Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001043770] Chr3:122254209 [GRCh38]
Chr3:121973056 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001045438]|Nephrolithiasis/nephrocalcinosis [RCV004031397]|not specified [RCV001779107] Chr3:122284611 [GRCh38]
Chr3:122003458 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000986113]|Familial hypocalciuric hypercalcemia [RCV005225179] Chr3:122282197 [GRCh38]
Chr3:122001044 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.503C>T (p.Ala168Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV000987310] Chr3:122261538 [GRCh38]
Chr3:121980385 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1096G>A (p.Gly366Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001229126] Chr3:122262131 [GRCh38]
Chr3:121980978 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002484151]|Familial hypocalciuric hypercalcemia [RCV001211502]|Nephrolithiasis/nephrocalcinosis [RCV004033817] Chr3:122283796 [GRCh38]
Chr3:122002643 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001145050]|Familial hypocalciuric hypercalcemia 1 [RCV001145049]|Familial hypoparathyroidism [RCV001145048]|Neonatal severe primary hyperparathyroidism [RCV001145051] Chr3:122262342 [GRCh38]
Chr3:121981189 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.361G>C (p.Asp121His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001246260] Chr3:122257256 [GRCh38]
Chr3:121976103 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2154G>C (p.Trp718Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001215643] Chr3:122284108 [GRCh38]
Chr3:122002955 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001204683]|Nephrolithiasis/nephrocalcinosis [RCV004033624]|not provided [RCV003145374] Chr3:122284896 [GRCh38]
Chr3:122003743 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001248249]|Nephrolithiasis/nephrocalcinosis [RCV004035272] Chr3:122285162 [GRCh38]
Chr3:122004009 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2250C>A (p.Ser750Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001216855]|Nephrolithiasis/nephrocalcinosis [RCV004034011] Chr3:122284204 [GRCh38]
Chr3:122003051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2258A>G (p.Asn753Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001234142]|Nephrolithiasis/nephrocalcinosis [RCV004994353] Chr3:122284212 [GRCh38]
Chr3:122003059 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.134C>T (p.Ala45Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001222412] Chr3:122254323 [GRCh38]
Chr3:121973170 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001210466]|Nephrolithiasis/nephrocalcinosis [RCV004033796] Chr3:122284358 [GRCh38]
Chr3:122003205 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001226869] Chr3:122284849 [GRCh38]
Chr3:122003696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001213977] Chr3:122284898 [GRCh38]
Chr3:122003745 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1999TTC[1] (p.Phe668del) microsatellite Familial hypocalciuric hypercalcemia [RCV001227236] Chr3:122283953..122283955 [GRCh38]
Chr3:122002800..122002802 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001233441]|Nephrolithiasis/nephrocalcinosis [RCV003353236] Chr3:122284253 [GRCh38]
Chr3:122003100 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2349G>A (p.Leu783=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001242556]|Nephrolithiasis/nephrocalcinosis [RCV004034721] Chr3:122284303 [GRCh38]
Chr3:122003150 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.479T>C (p.Phe160Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001222876]|Nephrolithiasis/nephrocalcinosis [RCV004032457] Chr3:122257374 [GRCh38]
Chr3:121976221 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2477C>G (p.Ala826Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001222616] Chr3:122284431 [GRCh38]
Chr3:122003278 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2680G>C (p.Val894Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001231828]|Nephrolithiasis/nephrocalcinosis [RCV004033138] Chr3:122284634 [GRCh38]
Chr3:122003481 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1377+5G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001206390] Chr3:122262417 [GRCh38]
Chr3:121981264 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1972C>A (p.Leu658Met) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV005359957]|Familial hypocalciuric hypercalcemia [RCV001220432] Chr3:122283926 [GRCh38]
Chr3:122002773 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2464A>G (p.Ile822Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001239575] Chr3:122284418 [GRCh38]
Chr3:122003265 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001224938] Chr3:122282232 [GRCh38]
Chr3:122001079 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1279A>G (p.Ile427Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001243270] Chr3:122262314 [GRCh38]
Chr3:121981161 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2863C>T (p.Arg955Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001209695] Chr3:122284817 [GRCh38]
Chr3:122003664 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001227208]|not provided [RCV001289356] Chr3:122284015 [GRCh38]
Chr3:122002862 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2726C>A (p.Thr909Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001218174] Chr3:122284680 [GRCh38]
Chr3:122003527 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2942A>T (p.Glu981Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001214581] Chr3:122284896 [GRCh38]
Chr3:122003743 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.866C>G (p.Thr289Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001223268]|Nephrolithiasis/nephrocalcinosis [RCV004032471] Chr3:122261901 [GRCh38]
Chr3:121980748 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1549A>G (p.Lys517Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001238687] Chr3:122275983 [GRCh38]
Chr3:121994830 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001210240]|not specified [RCV001420750] Chr3:122284412 [GRCh38]
Chr3:122003259 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) duplication Familial hypocalciuric hypercalcemia [RCV001222013] Chr3:122283850..122283851 [GRCh38]
Chr3:122002697..122002698 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001210355] Chr3:122282144 [GRCh38]
Chr3:122000991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001238614] Chr3:122284218 [GRCh38]
Chr3:122003065 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+4A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001201987] Chr3:122254378 [GRCh38]
Chr3:121973225 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001215543]|Nephrolithiasis/nephrocalcinosis [RCV004033967] Chr3:122284518 [GRCh38]
Chr3:122003365 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001054005]|not provided [RCV000991744] Chr3:122284351 [GRCh38]
Chr3:122003198 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001201432] Chr3:122285120 [GRCh38]
Chr3:122003967 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2781C>T (p.Pro927=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003104951]|Nephrolithiasis/nephrocalcinosis [RCV004244553] Chr3:122284735 [GRCh38]
Chr3:122003582 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg) single nucleotide variant not provided [RCV001663822] Chr3:122283996 [GRCh38]
Chr3:122002843 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.747_749del (p.Glu251del) deletion Familial hypocalciuric hypercalcemia [RCV003106619] Chr3:122261780..122261782 [GRCh38]
Chr3:121980627..121980629 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.394T>A (p.Ser132Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003106841] Chr3:122257289 [GRCh38]
Chr3:121976136 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002495949]|not specified [RCV001582385] Chr3:122283807 [GRCh38]
Chr3:122002654 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+52G>A single nucleotide variant not provided [RCV001671557] Chr3:122276094 [GRCh38]
Chr3:122276094..122276095 [GRCh38]
Chr3:121994941 [GRCh37]
Chr3:121994941..121994942 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2087T>C (p.Leu696Pro) single nucleotide variant not specified [RCV001532996] Chr3:122284041 [GRCh38]
Chr3:122002888 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2607C>T (p.Ile869=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000877427]|Nephrolithiasis/nephrocalcinosis [RCV004027887] Chr3:122284561 [GRCh38]
Chr3:122003408 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+7_185+9del microsatellite Familial hypocalciuric hypercalcemia [RCV001496775] Chr3:122254377..122254379 [GRCh38]
Chr3:121973224..121973226 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1338T>C (p.Asn446=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000949456]|Nephrolithiasis/nephrocalcinosis [RCV004029798] Chr3:122262373 [GRCh38]
Chr3:121981220 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1887T>C (p.Phe629=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002502790]|Familial hypocalciuric hypercalcemia [RCV000918935]|Nephrolithiasis/nephrocalcinosis [RCV004029434] Chr3:122283841 [GRCh38]
Chr3:122002688 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2097C>T (p.Thr699=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001425236]|Nephrolithiasis/nephrocalcinosis [RCV005318561] Chr3:122284051 [GRCh38]
Chr3:122002898 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2139C>T (p.Ser713=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002505417]|Familial hypocalciuric hypercalcemia [RCV000952313]|Nephrolithiasis/nephrocalcinosis [RCV004029836]|not specified [RCV005236475] Chr3:122284093 [GRCh38]
Chr3:122002940 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3093T>C (p.Gly1031=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000938629]|Nephrolithiasis/nephrocalcinosis [RCV004994133] Chr3:122285047 [GRCh38]
Chr3:122003894 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.528C>T (p.Asn176=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000931139] Chr3:122261563 [GRCh38]
Chr3:121980410 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1164G>A (p.Ser388=) single nucleotide variant CASR-related disorder [RCV004554829]|Familial hypocalciuric hypercalcemia 1 [RCV002507473]|Familial hypocalciuric hypercalcemia [RCV000862622]|Nephrolithiasis/nephrocalcinosis [RCV004029315]|not specified [RCV005231410] Chr3:122262199 [GRCh38]
Chr3:121981046 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1143C>T (p.Gly381=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001451089]|Nephrolithiasis/nephrocalcinosis [RCV004027812] Chr3:122262178 [GRCh38]
Chr3:121981025 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1609-10T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001458754] Chr3:122282103 [GRCh38]
Chr3:122000950 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1428G>A (p.Gln476=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001504609]|Nephrolithiasis/nephrocalcinosis [RCV004029648] Chr3:122275862 [GRCh38]
Chr3:121994709 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1371G>A (p.Ala457=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000870585]|Nephrolithiasis/nephrocalcinosis [RCV004027780]|not specified [RCV005418380] Chr3:122262406 [GRCh38]
Chr3:121981253 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.1554A>G (p.Gly518=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002478988]|Familial hypocalciuric hypercalcemia [RCV000873578]|Nephrolithiasis/nephrocalcinosis [RCV004027830] Chr3:122275988 [GRCh38]
Chr3:121994835 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2007C>T (p.Ile669=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000920203]|Nephrolithiasis/nephrocalcinosis [RCV004029452] Chr3:122283961 [GRCh38]
Chr3:122002808 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3018G>T (p.Thr1006=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001452016]|Nephrolithiasis/nephrocalcinosis [RCV004029864] Chr3:122284972 [GRCh38]
Chr3:122003819 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1821G>A (p.Ser607=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000909533]|Nephrolithiasis/nephrocalcinosis [RCV004028602] Chr3:122283775 [GRCh38]
Chr3:122002622 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2331C>T (p.Ile777=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000932141]|Nephrolithiasis/nephrocalcinosis [RCV004029586] Chr3:122284285 [GRCh38]
Chr3:122003132 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1733-4A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001498387] Chr3:122283683 [GRCh38]
Chr3:122002530 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001229786] Chr3:122285096 [GRCh38]
Chr3:122003943 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2867C>A (p.Ser956Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001244286]|Nephrolithiasis/nephrocalcinosis [RCV004034775] Chr3:122284821 [GRCh38]
Chr3:122003668 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001222210] Chr3:122275857 [GRCh38]
Chr3:121994704 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.587C>T (p.Ala196Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001049518]|Nephrolithiasis/nephrocalcinosis [RCV004031545] Chr3:122261622 [GRCh38]
Chr3:121980469 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001222416]|not provided [RCV003328660] Chr3:122285037 [GRCh38]
Chr3:122003884 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1114A>C (p.Thr372Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001239154]|Nephrolithiasis/nephrocalcinosis [RCV004034597] Chr3:122262149 [GRCh38]
Chr3:121980996 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001244531]|Nephrolithiasis/nephrocalcinosis [RCV004034788]|not provided [RCV001545975] Chr3:122284571 [GRCh38]
Chr3:122003418 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2130_2131delinsAA (p.Pro711Thr) indel Familial hypocalciuric hypercalcemia [RCV001208041] Chr3:122284084..122284085 [GRCh38]
Chr3:122002931..122002932 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1377+4C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001219560] Chr3:122262416 [GRCh38]
Chr3:121981263 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.293T>C (p.Phe98Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001219563] Chr3:122257188 [GRCh38]
Chr3:121976035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.183C>T (p.Ile61=) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001144945]|Familial hypocalciuric hypercalcemia 1 [RCV001151046]|Familial hypoparathyroidism [RCV001151047]|Neonatal severe primary hyperparathyroidism [RCV001151045] Chr3:122254372 [GRCh38]
Chr3:121973219 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.491A>G (p.Gln164Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001036299] Chr3:122257386 [GRCh38]
Chr3:121976233 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001245211]|Nephrolithiasis/nephrocalcinosis [RCV004034817]|not provided [RCV001751492] Chr3:122262323 [GRCh38]
Chr3:121981170 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001036978]|Nephrolithiasis/nephrocalcinosis [RCV004031015] Chr3:122284835 [GRCh38]
Chr3:122003682 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1429G>A (p.Val477Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001051303]|Nephrolithiasis/nephrocalcinosis [RCV004031594] Chr3:122275863 [GRCh38]
Chr3:121994710 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3133G>A (p.Glu1045Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001202822] Chr3:122285087 [GRCh38]
Chr3:122003934 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.656G>A (p.Gly219Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001037233] Chr3:122261691 [GRCh38]
Chr3:121980538 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.788C>T (p.Thr263Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002482098]|Familial hypocalciuric hypercalcemia [RCV001066175]|Nephrolithiasis/nephrocalcinosis [RCV004030599] Chr3:122261823 [GRCh38]
Chr3:121980670 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*251G>C single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001148417]|Familial hypocalciuric hypercalcemia 1 [RCV001148420]|Familial hypoparathyroidism [RCV001148418]|Neonatal severe primary hyperparathyroidism [RCV001148419] Chr3:122285442 [GRCh38]
Chr3:122004289 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.149A>T (p.Asp50Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001243613]|Nephrolithiasis/nephrocalcinosis [RCV004034755] Chr3:122254338 [GRCh38]
Chr3:121973185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005036483]|Familial hypocalciuric hypercalcemia [RCV001221144]|Nephrolithiasis/nephrocalcinosis [RCV004032407] Chr3:122262375 [GRCh38]
Chr3:121981222 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1316C>A (p.Pro439His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001209922] Chr3:122262351 [GRCh38]
Chr3:121981198 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1951T>C (p.Ser651Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005410928]|Familial hypocalciuric hypercalcemia [RCV001210130]|not provided [RCV004998726] Chr3:122283905 [GRCh38]
Chr3:122002752 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2036T>C (p.Leu679Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001227837] Chr3:122283990 [GRCh38]
Chr3:122002837 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.270C>T (p.Asn90=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029531]|Familial hypocalciuric hypercalcemia [RCV000912806]|Nephrolithiasis/nephrocalcinosis [RCV004029355] Chr3:122257165 [GRCh38]
Chr3:121976012 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2292G>C (p.Thr764=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000891154]|Nephrolithiasis/nephrocalcinosis [RCV004028401]|not provided [RCV003424448] Chr3:122284246 [GRCh38]
Chr3:122003093 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2712C>T (p.Gly904=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000891329]|Nephrolithiasis/nephrocalcinosis [RCV004028405]|not specified [RCV003151188] Chr3:122284666 [GRCh38]
Chr3:122003513 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.987C>T (p.Gly329=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001447929] Chr3:122262022 [GRCh38]
Chr3:121980869 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3121C>A (p.Arg1041=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001484734]|Nephrolithiasis/nephrocalcinosis [RCV004029614] Chr3:122285075 [GRCh38]
Chr3:122003922 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1467T>C (p.Tyr489=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001399318] Chr3:122275901 [GRCh38]
Chr3:121994748 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.580_581delinsCT (p.Ala194Leu) indel not specified [RCV002469974] Chr3:122261615..122261616 [GRCh38]
Chr3:121980462..121980463 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1268C>A (p.Ala423Glu) single nucleotide variant not specified [RCV001553723] Chr3:122262303 [GRCh38]
Chr3:121981150 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1262A>G (p.Tyr421Cys) single nucleotide variant not specified [RCV001553725] Chr3:122262297 [GRCh38]
Chr3:121981144 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2452T>C (p.Trp818Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004326950] Chr3:122284406 [GRCh38]
Chr3:122003253 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV001030007]|Familial hypocalciuric hypercalcemia [RCV001208343] Chr3:122282174 [GRCh38]
Chr3:122001021 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001214695]|Nephrolithiasis/nephrocalcinosis [RCV004030290] Chr3:122262054 [GRCh38]
Chr3:121980901 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.493-91C>T single nucleotide variant not provided [RCV001717083] Chr3:122261437 [GRCh38]
Chr3:121980284 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.1408A>T (p.Thr470Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001070489] Chr3:122275842 [GRCh38]
Chr3:121994689 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005036277]|Familial hypocalciuric hypercalcemia [RCV001860617]|Nephrolithiasis/nephrocalcinosis [RCV004030293] Chr3:122262140 [GRCh38]
Chr3:121980987 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.857G>C (p.Arg286Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001070778] Chr3:122261892 [GRCh38]
Chr3:121980739 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001210848] Chr3:122283937 [GRCh38]
Chr3:122002784 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003770312]|Idiopathic generalized epilepsy [RCV001253150] Chr3:122284076 [GRCh38]
Chr3:122002923 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001219131]|Nephrolithiasis/nephrocalcinosis [RCV004030372]|not provided [RCV002473164] Chr3:122284268 [GRCh38]
Chr3:122003115 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2316C>T (p.Ala772=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030373] Chr3:122284270 [GRCh38]
Chr3:122003117 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2604C>T (p.Thr868=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002068929]|Nephrolithiasis/nephrocalcinosis [RCV004030378] Chr3:122284558 [GRCh38]
Chr3:122003405 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2634T>A (p.Ala878=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030381] Chr3:122284588 [GRCh38]
Chr3:122003435 [GRCh37]
Chr3:3q21.1		 likely benign
NC_000003.12:g.(?_122254180)_(122285201_?)dup duplication Familial hypocalciuric hypercalcemia [RCV001033139] Chr3:121973027..122004048 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.12:g.(?_122282103)_(122285191_?)del deletion Familial hypocalciuric hypercalcemia [RCV001033191] Chr3:122000950..122004038 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1916A>G (p.Asn639Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001047678] Chr3:122283870 [GRCh38]
Chr3:122002717 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003989125]|Familial hypocalciuric hypercalcemia [RCV001047702]|Nephrolithiasis/nephrocalcinosis [RCV004031480] Chr3:122262227 [GRCh38]
Chr3:121981074 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001068540]|Nephrolithiasis/nephrocalcinosis [RCV004030681] Chr3:122284089 [GRCh38]
Chr3:122002936 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-133_493-132del microsatellite not provided [RCV001652726] Chr3:122261393..122261394 [GRCh38]
Chr3:121980240..121980241 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2033G>A (p.Arg678His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001068981]|not specified [RCV005232108] Chr3:122283987 [GRCh38]
Chr3:122002834 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002480440]|Familial hypocalciuric hypercalcemia [RCV001071002]|Nephrolithiasis/nephrocalcinosis [RCV004030771] Chr3:122261981 [GRCh38]
Chr3:121980828 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-133T>C single nucleotide variant not provided [RCV001679961] Chr3:122261395 [GRCh38]
Chr3:121980242 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.237G>C (p.Glu79Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001035455]|Nephrolithiasis/nephrocalcinosis [RCV004030956] Chr3:122257132 [GRCh38]
Chr3:121975979 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002551726]|Nephrolithiasis/nephrocalcinosis [RCV004030296] Chr3:122262203 [GRCh38]
Chr3:121981050 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr) single nucleotide variant CASR-related disorder [RCV004554868]|Familial hypocalciuric hypercalcemia [RCV002573217]|not provided [RCV001572541] Chr3:122282141 [GRCh38]
Chr3:122000988 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-89C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001554698]|Familial hypocalciuric hypercalcemia 1 [RCV001554699]|Neonatal severe primary hyperparathyroidism [RCV001554697]|not provided [RCV001713051] Chr3:122282024 [GRCh38]
Chr3:122000871 [GRCh37]
Chr3:3q21.1		 benign
NM_000388.4(CASR):c.2129T>C (p.Ile710Thr) single nucleotide variant not provided [RCV001663823] Chr3:122284083 [GRCh38]
Chr3:122002930 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2154G>A (p.Trp718Ter) single nucleotide variant not provided [RCV001663824] Chr3:122284108 [GRCh38]
Chr3:122002955 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001046019]|Nephrolithiasis/nephrocalcinosis [RCV004031420]|not specified [RCV005232081] Chr3:122285177 [GRCh38]
Chr3:122004024 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001046366]|Nephrolithiasis/nephrocalcinosis [RCV004031438] Chr3:122283728 [GRCh38]
Chr3:122002575 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.566A>T (p.Asn189Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001212286]|Nephrolithiasis/nephrocalcinosis [RCV004033849] Chr3:122261601 [GRCh38]
Chr3:121980448 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1509C>G (p.Ile503Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001218583] Chr3:122275943 [GRCh38]
Chr3:121994790 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489537]|Familial hypocalciuric hypercalcemia [RCV001034984]|Nephrolithiasis/nephrocalcinosis [RCV004030943] Chr3:122262198 [GRCh38]
Chr3:121981045 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001059998]|Nephrolithiasis/nephrocalcinosis [RCV004031907] Chr3:122284689 [GRCh38]
Chr3:122003536 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029572]|Familial hypocalciuric hypercalcemia [RCV002549395]|Nephrolithiasis/nephrocalcinosis [RCV004030360] Chr3:122283897 [GRCh38]
Chr3:122002744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.*1298A>G single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001150218]|Familial hypocalciuric hypercalcemia 1 [RCV001148645]|Familial hypoparathyroidism [RCV001148646]|Neonatal severe primary hyperparathyroidism [RCV001150219] Chr3:122286489 [GRCh38]
Chr3:122005336 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2996A>G (p.Glu999Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001217729] Chr3:122284950 [GRCh38]
Chr3:122003797 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2026A>T (p.Thr676Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001220163] Chr3:122283980 [GRCh38]
Chr3:122002827 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.767T>C (p.Val256Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001220217]|Nephrolithiasis/nephrocalcinosis [RCV004032385]|not provided [RCV003227936] Chr3:122261802 [GRCh38]
Chr3:121980649 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2027C>T (p.Thr676Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001041951]|Nephrolithiasis/nephrocalcinosis [RCV004031264] Chr3:122283981 [GRCh38]
Chr3:122002828 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003769422]|Nephrolithiasis/nephrocalcinosis [RCV004030291] Chr3:122262080 [GRCh38]
Chr3:121980927 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001208896] Chr3:122285001 [GRCh38]
Chr3:122003848 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2560T>A (p.Phe854Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001237235] Chr3:122284514 [GRCh38]
Chr3:122003361 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-2A>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001229857]|Neonatal severe primary hyperparathyroidism [RCV003339542] Chr3:122261526 [GRCh38]
Chr3:121980373 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1377+3G>A single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001199333]|Familial hypocalciuric hypercalcemia [RCV002560267] Chr3:122262415 [GRCh38]
Chr3:121981262 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1309T>A (p.Cys437Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001042738] Chr3:122262344 [GRCh38]
Chr3:121981191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1407T>G (p.Phe469Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001061334]|Nephrolithiasis/nephrocalcinosis [RCV004031955] Chr3:122275841 [GRCh38]
Chr3:121994688 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2581C>G (p.Leu861Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001216429] Chr3:122284535 [GRCh38]
Chr3:122003382 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002497698]|Familial hypocalciuric hypercalcemia [RCV001205522] Chr3:122285072 [GRCh38]
Chr3:122003919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001213768] Chr3:122284500 [GRCh38]
Chr3:122003347 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.531G>T (p.Lys177Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001237003] Chr3:122261566 [GRCh38]
Chr3:121980413 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1138A>G (p.Ser380Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001234088] Chr3:122262173 [GRCh38]
Chr3:121981020 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002272407]|Familial hypocalciuric hypercalcemia [RCV001205771]|Familial hypocalciuric hypercalcemia [RCV003323817]|not provided [RCV001289357] Chr3:122284197 [GRCh38]
Chr3:122003044 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2410G>A (p.Ala804Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001219019] Chr3:122284364 [GRCh38]
Chr3:122003211 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001058244]|not provided [RCV004726846] Chr3:122283698 [GRCh38]
Chr3:122002545 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2329A>C (p.Ile777Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001205834] Chr3:122284283 [GRCh38]
Chr3:122003130 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001054181]|not provided [RCV001847141]|not specified [RCV003230626] Chr3:122284286 [GRCh38]
Chr3:122003133 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002497795]|Familial hypocalciuric hypercalcemia [RCV001233279]|Familial hypocalciuric hypercalcemia [RCV003486972]|not provided [RCV003482350] Chr3:122261688 [GRCh38]
Chr3:121980535 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001040236] Chr3:122282185 [GRCh38]
Chr3:122001032 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1458G>A (p.Val486=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001217976]|Nephrolithiasis/nephrocalcinosis [RCV004601397] Chr3:122275892 [GRCh38]
Chr3:121994739 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1146C>G (p.Asp382Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001206953]|Nephrolithiasis/nephrocalcinosis [RCV004994325] Chr3:122262181 [GRCh38]
Chr3:121981028 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001207997]|not provided [RCV002473220] Chr3:122283873 [GRCh38]
Chr3:122002720 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.310G>A (p.Val104Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001040483]|not specified [RCV001824917] Chr3:122257205 [GRCh38]
Chr3:121976052 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1214A>G (p.Glu405Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001215407] Chr3:122262249 [GRCh38]
Chr3:121981096 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001052412]|Nephrolithiasis/nephrocalcinosis [RCV004031642] Chr3:122275987 [GRCh38]
Chr3:121994834 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2449G>C (p.Val817Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001202613] Chr3:122284403 [GRCh38]
Chr3:122003250 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029755]|Familial hypocalciuric hypercalcemia [RCV001207216]|Nephrolithiasis/nephrocalcinosis [RCV004033694]|not provided [RCV004822321] Chr3:122275963 [GRCh38]
Chr3:121994810 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002489658]|Familial hypocalciuric hypercalcemia [RCV001059732]|Nephrolithiasis/nephrocalcinosis [RCV004031894] Chr3:122284167 [GRCh38]
Chr3:122003014 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.-137C>T single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001150928]|Familial hypocalciuric hypercalcemia 1 [RCV001150930]|Familial hypoparathyroidism [RCV001144833]|Neonatal severe primary hyperparathyroidism [RCV001150929] Chr3:122254053 [GRCh38]
Chr3:121972900 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.151C>T (p.Leu51Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001228902]|Nephrolithiasis/nephrocalcinosis [RCV004032653] Chr3:122254340 [GRCh38]
Chr3:121973187 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002497391]|Familial hypocalciuric hypercalcemia [RCV001049283] Chr3:122284457 [GRCh38]
Chr3:122003304 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3204C>T (p.Gly1068=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001039576]|Nephrolithiasis/nephrocalcinosis [RCV004031112] Chr3:122285158 [GRCh38]
Chr3:122004005 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1124G>T (p.Arg375Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001064071] Chr3:122262159 [GRCh38]
Chr3:121981006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.921G>A (p.Met307Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005036293]|Familial hypocalciuric hypercalcemia [RCV001035345]|Nephrolithiasis/nephrocalcinosis [RCV004030422]|not specified [RCV005236532] Chr3:122261956 [GRCh38]
Chr3:121980803 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2761G>A (p.Glu921Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001071403]|Nephrolithiasis/nephrocalcinosis [RCV004994248] Chr3:122284715 [GRCh38]
Chr3:122003562 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1733-7T>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001054176] Chr3:122283680 [GRCh38]
Chr3:122002527 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.613C>G (p.Arg205Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001229819]|Nephrolithiasis/nephrocalcinosis [RCV004032679] Chr3:122261648 [GRCh38]
Chr3:121980495 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3044del (p.Pro1015fs) deletion Familial hypocalciuric hypercalcemia [RCV001064392] Chr3:122284996 [GRCh38]
Chr3:122003843 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2242C>T (p.Pro748Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001040291] Chr3:122284196 [GRCh38]
Chr3:122003043 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2140T>C (p.Phe714Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030367] Chr3:122284094 [GRCh38]
Chr3:122002941 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2311A>T (p.Met771Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030371] Chr3:122284265 [GRCh38]
Chr3:122003112 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1622A>C (p.Asn541Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001040731] Chr3:122282126 [GRCh38]
Chr3:122000973 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.916G>T (p.Ala306Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001055230] Chr3:122261951 [GRCh38]
Chr3:121980798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005029625]|Familial hypocalciuric hypercalcemia [RCV001055733] Chr3:122254209 [GRCh38]
Chr3:121973056 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2690A>G (p.Lys897Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030382] Chr3:122284644 [GRCh38]
Chr3:122003491 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2818C>A (p.Gln940Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004030383] Chr3:122284772 [GRCh38]
Chr3:122003619 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.778C>G (p.Gln260Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001213272] Chr3:122261813 [GRCh38]
Chr3:121980660 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001204429]|not provided [RCV002268449] Chr3:122284610 [GRCh38]
Chr3:122003457 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2296C>T (p.His766Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001205236] Chr3:122284250 [GRCh38]
Chr3:122003097 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001233684] Chr3:122285016 [GRCh38]
Chr3:122003863 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1642G>T (p.Ala548Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001037727] Chr3:122282146 [GRCh38]
Chr3:122000993 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2741T>C (p.Ile914Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001047284] Chr3:122284695 [GRCh38]
Chr3:122003542 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2200A>T (p.Met734Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001062657]|Nephrolithiasis/nephrocalcinosis [RCV004030464] Chr3:122284154 [GRCh38]
Chr3:122003001 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1924A>G (p.Ile642Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001216422] Chr3:122283878 [GRCh38]
Chr3:122002725 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.28C>T (p.Leu10Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001047886]|Nephrolithiasis/nephrocalcinosis [RCV004601342] Chr3:122254217 [GRCh38]
Chr3:121973064 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1108G>A (p.Val370Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001052865]|Nephrolithiasis/nephrocalcinosis [RCV004031662]|not provided [RCV002462291] Chr3:122262143 [GRCh38]
Chr3:121980990 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1402A>C (p.Asn468His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001203475] Chr3:122275836 [GRCh38]
Chr3:121994683 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1476C>T (p.Ile492=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001398128]|Nephrolithiasis/nephrocalcinosis [RCV004030326] Chr3:122275910 [GRCh38]
Chr3:121994757 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3073C>T (p.Leu1025=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001447361]|Nephrolithiasis/nephrocalcinosis [RCV004030413] Chr3:122285027 [GRCh38]
Chr3:122003874 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001204290]|Nephrolithiasis/nephrocalcinosis [RCV004033610] Chr3:122284944 [GRCh38]
Chr3:122003791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.693G>A (p.Glu231=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002067692]|Nephrolithiasis/nephrocalcinosis [RCV004030874] Chr3:122261728 [GRCh38]
Chr3:121980575 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.686A>C (p.Glu229Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001070649] Chr3:122261721 [GRCh38]
Chr3:121980568 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.753G>C (p.Glu251Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001052620]|Nephrolithiasis/nephrocalcinosis [RCV004031648] Chr3:122261788 [GRCh38]
Chr3:121980635 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) deletion Familial hypocalciuric hypercalcemia [RCV001215539] Chr3:122283962..122283963 [GRCh38]
Chr3:122002809..122002810 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.235G>A (p.Glu79Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001246172] Chr3:122257130 [GRCh38]
Chr3:121975977 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV001536112]|Familial hypocalciuric hypercalcemia [RCV001039545]|Nephrolithiasis/nephrocalcinosis [RCV004031110]|not provided [RCV002473169] Chr3:122254355 [GRCh38]
Chr3:121973202 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001255963] Chr3:122284383 [GRCh38]
Chr3:122003230 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001253113]|Familial hypocalciuric hypercalcemia [RCV002570523] Chr3:122257281 [GRCh38]
Chr3:121976128 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2818C>T (p.Gln940Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001350099] Chr3:122284772 [GRCh38]
Chr3:122003619 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001255709]|CASR-related disorder [RCV004731110]|Familial hypocalciuric hypercalcemia 1 [RCV002480873]|Nephrolithiasis/nephrocalcinosis [RCV003365296]|not provided [RCV001586094] Chr3:122257274 [GRCh38]
Chr3:121976121 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2804C>T (p.Pro935Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001312644] Chr3:122284758 [GRCh38]
Chr3:122003605 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001873792]|Familial hypocalciuric hypercalcemia [RCV003399331]|Neonatal severe primary hyperparathyroidism [RCV001535770] Chr3:122257104 [GRCh38]
Chr3:121975951 [GRCh37]
Chr3:3q21.1		 pathogenic|not provided
NM_000388.4(CASR):c.2531C>T (p.Ala844Val) single nucleotide variant Inborn genetic diseases [RCV001266561] Chr3:122284485 [GRCh38]
Chr3:122003332 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.3010A>T (p.Ser1004Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001337897] Chr3:122284964 [GRCh38]
Chr3:122003811 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.350A>C (p.Gln117Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001307530] Chr3:122257245 [GRCh38]
Chr3:121976092 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-31G>A single nucleotide variant Neonatal severe hyperparathyroidism [RCV001329230] Chr3:122282082 [GRCh38]
Chr3:122000929 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.776T>C (p.Ile259Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001305672]|Nephrolithiasis/nephrocalcinosis [RCV004036365]|not specified [RCV004699292] Chr3:122261811 [GRCh38]
Chr3:121980658 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2960T>G (p.Met987Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001319353] Chr3:122284914 [GRCh38]
Chr3:122003761 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.502G>T (p.Ala168Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001341431]|Nephrolithiasis/nephrocalcinosis [RCV004035964] Chr3:122261537 [GRCh38]
Chr3:121980384 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1213G>A (p.Glu405Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001305126]|Nephrolithiasis/nephrocalcinosis [RCV004036339] Chr3:122262248 [GRCh38]
Chr3:121981095 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.627G>A (p.Val209=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001301012]|Nephrolithiasis/nephrocalcinosis [RCV004036187] Chr3:122261662 [GRCh38]
Chr3:121980509 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1115C>T (p.Thr372Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001338486] Chr3:122262150 [GRCh38]
Chr3:121980997 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2202G>A (p.Met734Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001316508] Chr3:122284156 [GRCh38]
Chr3:122003003 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1803G>A (p.Lys601=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001299289] Chr3:122283757 [GRCh38]
Chr3:122002604 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001308920] Chr3:122283922 [GRCh38]
Chr3:122002769 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038100]|Familial hypocalciuric hypercalcemia [RCV001341752]|not provided [RCV005001207] Chr3:122262207 [GRCh38]
Chr3:121981054 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3221del (p.Asn1074fs) deletion Familial hypocalciuric hypercalcemia [RCV001316665] Chr3:122285172 [GRCh38]
Chr3:122004019 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001317426]|Nephrolithiasis/nephrocalcinosis [RCV004034425] Chr3:122283848 [GRCh38]
Chr3:122002695 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2594C>T (p.Ser865Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001320894] Chr3:122284548 [GRCh38]
Chr3:122003395 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2986A>C (p.Asn996His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001306313] Chr3:122284940 [GRCh38]
Chr3:122003787 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001317649]|Nephrolithiasis/nephrocalcinosis [RCV004034431] Chr3:122284892 [GRCh38]
Chr3:122003739 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1903A>C (p.Ile635Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001327686] Chr3:122283857 [GRCh38]
Chr3:122002704 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.904T>A (p.Ser302Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001343188] Chr3:122261939 [GRCh38]
Chr3:121980786 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.298A>T (p.Thr100Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001320359] Chr3:122257193 [GRCh38]
Chr3:121976040 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1016C>T (p.Pro339Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001349213] Chr3:122262051 [GRCh38]
Chr3:121980898 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001309589]|Nephrolithiasis/nephrocalcinosis [RCV004034210] Chr3:122262369 [GRCh38]
Chr3:121981216 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2710G>C (p.Gly904Arg) single nucleotide variant Familial hypokalemia-hypomagnesemia [RCV001328099] Chr3:122284664 [GRCh38]
Chr3:122003511 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2146C>G (p.Arg716Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001350328] Chr3:122284100 [GRCh38]
Chr3:122002947 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2461T>G (p.Phe821Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001304331] Chr3:122284415 [GRCh38]
Chr3:122003262 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001318308] Chr3:122282227 [GRCh38]
Chr3:122001074 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1911C>G (p.Phe637Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001342843] Chr3:122283865 [GRCh38]
Chr3:122002712 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2448C>A (p.Ile816=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001313575] Chr3:122284402 [GRCh38]
Chr3:122003249 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2471C>G (p.Ala824Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001299945] Chr3:122284425 [GRCh38]
Chr3:122003272 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002486114]|Familial hypocalciuric hypercalcemia [RCV001295093]|Nephrolithiasis/nephrocalcinosis [RCV004035630] Chr3:122284773 [GRCh38]
Chr3:122003620 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.507C>G (p.Ser169=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001423202] Chr3:122261542 [GRCh38]
Chr3:121980389 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.632C>T (p.Thr211Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001224253] Chr3:122261667 [GRCh38]
Chr3:121980514 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.712G>A (p.Asp238Asn) single nucleotide variant CASR-related disorder [RCV004554852]|Familial hypocalciuric hypercalcemia [RCV001238076]|Nephrolithiasis/nephrocalcinosis [RCV004034568] Chr3:122261747 [GRCh38]
Chr3:121980594 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.652T>C (p.Tyr218His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001238160]|not provided [RCV005251259] Chr3:122261687 [GRCh38]
Chr3:121980534 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2637C>A (p.His879Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003771966]|not provided [RCV001760768] Chr3:122284591 [GRCh38]
Chr3:122003438 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1626C>T (p.Cys542=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV000935437] Chr3:122282130 [GRCh38]
Chr3:122000977 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) single nucleotide variant CASR-related disorder [RCV004554842]|Familial hypocalciuric hypercalcemia [RCV001858739]|Nephrolithiasis/nephrocalcinosis [RCV004030128]|not provided [RCV000991735] Chr3:122262285 [GRCh38]
Chr3:121981132 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001323851]|Familial hypocalciuric hypercalcemia [RCV002236001]|Nephrolithiasis/nephrocalcinosis [RCV004030129]|not provided [RCV000991738] Chr3:122282168 [GRCh38]
Chr3:122001015 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000388.4(CASR):c.1732+1G>T single nucleotide variant not provided [RCV000991739] Chr3:122282237 [GRCh38]
Chr3:122001084 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1913dup (p.Asn639fs) duplication not provided [RCV000991740] Chr3:122283866..122283867 [GRCh38]
Chr3:122002713..122002714 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2097del (p.Asn700fs) deletion not provided [RCV000991742] Chr3:122284050 [GRCh38]
Chr3:122002897 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter) single nucleotide variant not provided [RCV000991746] Chr3:122284408 [GRCh38]
Chr3:122003255 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001302899]|Nephrolithiasis/nephrocalcinosis [RCV004994391] Chr3:122284962 [GRCh38]
Chr3:122003809 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1417A>G (p.Met473Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001350144] Chr3:122275851 [GRCh38]
Chr3:121994698 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2070C>G (p.Leu690=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001414336]|Nephrolithiasis/nephrocalcinosis [RCV004038113] Chr3:122284024 [GRCh38]
Chr3:122002871 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492G>A (p.Gln164=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001361365] Chr3:122257387 [GRCh38]
Chr3:121976234 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1113C>T (p.Asp371=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001396670]|Nephrolithiasis/nephrocalcinosis [RCV004037772] Chr3:122262148 [GRCh38]
Chr3:121980995 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.956G>A (p.Gly319Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001361585] Chr3:122261991 [GRCh38]
Chr3:121980838 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2300A>C (p.Glu767Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001361605] Chr3:122284254 [GRCh38]
Chr3:122003101 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002538578]|not provided [RCV001663825] Chr3:122257362 [GRCh38]
Chr3:121976209 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+5del deletion Familial hypocalciuric hypercalcemia [RCV002543004]|not provided [RCV001289354] Chr3:122276046 [GRCh38]
Chr3:121994893 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2821C>G (p.Gln941Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001363305]|Nephrolithiasis/nephrocalcinosis [RCV004036874] Chr3:122284775 [GRCh38]
Chr3:122003622 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2341T>A (p.Cys781Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001374241] Chr3:122284295 [GRCh38]
Chr3:122003142 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.550C>T (p.Leu184Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001368444]|Nephrolithiasis/nephrocalcinosis [RCV004037042] Chr3:122261585 [GRCh38]
Chr3:121980432 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001369679] Chr3:122285016 [GRCh38]
Chr3:122003863 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.796G>A (p.Val266Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001305567] Chr3:122261831 [GRCh38]
Chr3:121980678 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-4C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001413476] Chr3:122261524 [GRCh38]
Chr3:121980371 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.961G>A (p.Ala321Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001305935] Chr3:122261996 [GRCh38]
Chr3:121980843 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1439A>T (p.Asp480Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001307911] Chr3:122275873 [GRCh38]
Chr3:121994720 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.655G>T (p.Gly219Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001369907] Chr3:122261690 [GRCh38]
Chr3:121980537 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1944A>C (p.Arg648=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001396029] Chr3:122283898 [GRCh38]
Chr3:122002745 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2625C>T (p.Ser875=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001433483] Chr3:122284579 [GRCh38]
Chr3:122003426 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001370043] Chr3:122276032 [GRCh38]
Chr3:121994879 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001360497] Chr3:122285099 [GRCh38]
Chr3:122003946 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001294742] Chr3:122283702 [GRCh38]
Chr3:122002549 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.201G>A (p.Gly67=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001415060]|Hereditary cancer-predisposing syndrome [RCV002258234]|Nephrolithiasis/nephrocalcinosis [RCV005308446] Chr3:122257096 [GRCh38]
Chr3:121975943 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001373830] Chr3:122284193 [GRCh38]
Chr3:122003040 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2160G>A (p.Gly720=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001397323]|Nephrolithiasis/nephrocalcinosis [RCV004037779] Chr3:122284114 [GRCh38]
Chr3:122002961 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001313827]|not specified [RCV005236791] Chr3:122262059 [GRCh38]
Chr3:121980906 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.952A>G (p.Ile318Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001362184] Chr3:122261987 [GRCh38]
Chr3:121980834 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1010T>C (p.Val337Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001362285] Chr3:122262045 [GRCh38]
Chr3:121980892 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001341859]|not specified [RCV003323861] Chr3:122262234 [GRCh38]
Chr3:121981081 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1507A>G (p.Ile503Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038074]|Familial hypocalciuric hypercalcemia [RCV001321430] Chr3:122275941 [GRCh38]
Chr3:121994788 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001321440]|Nephrolithiasis/nephrocalcinosis [RCV004995679]|not provided [RCV001820012] Chr3:122284979 [GRCh38]
Chr3:122003826 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1418T>C (p.Met473Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001343489] Chr3:122275852 [GRCh38]
Chr3:121994699 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.905C>A (p.Ser302Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001373566] Chr3:122261940 [GRCh38]
Chr3:121980787 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.663G>A (p.Pro221=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001364007]|Nephrolithiasis/nephrocalcinosis [RCV004036897] Chr3:122261698 [GRCh38]
Chr3:121980545 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2477C>T (p.Ala826Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001303147]|Nephrolithiasis/nephrocalcinosis [RCV004036268] Chr3:122284431 [GRCh38]
Chr3:122003278 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1211T>G (p.Val404Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001297787] Chr3:122262246 [GRCh38]
Chr3:121981093 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001317613] Chr3:122285126 [GRCh38]
Chr3:122003973 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.623G>C (p.Trp208Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001323850] Chr3:122261658 [GRCh38]
Chr3:121980505 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2333G>A (p.Gly778Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001323852] Chr3:122284287 [GRCh38]
Chr3:122003134 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1028T>C (p.Val343Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038106]|Familial hypocalciuric hypercalcemia [RCV001345715] Chr3:122262063 [GRCh38]
Chr3:121980910 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3118C>T (p.Gln1040Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001308673] Chr3:122285072 [GRCh38]
Chr3:122003919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2143C>A (p.His715Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001323922]|Nephrolithiasis/nephrocalcinosis [RCV004035116] Chr3:122284097 [GRCh38]
Chr3:122002944 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.130G>A (p.Val44Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002486509]|Familial hypocalciuric hypercalcemia [RCV001360501]|Nephrolithiasis/nephrocalcinosis [RCV004036766] Chr3:122254319 [GRCh38]
Chr3:121973166 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.229G>T (p.Ala77Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001362856] Chr3:122257124 [GRCh38]
Chr3:121975971 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001339819]|Nephrolithiasis/nephrocalcinosis [RCV004035913]|not provided [RCV002473274] Chr3:122282191 [GRCh38]
Chr3:122001038 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001340731]|Nephrolithiasis/nephrocalcinosis [RCV004035949] Chr3:122285046 [GRCh38]
Chr3:122003893 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001280870] Chr3:122282165 [GRCh38]
Chr3:122001012 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001326553]|Nephrolithiasis/nephrocalcinosis [RCV004035209] Chr3:122284185 [GRCh38]
Chr3:122003032 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.265C>A (p.Pro89Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001316578]|Nephrolithiasis/nephrocalcinosis [RCV004034396] Chr3:122257160 [GRCh38]
Chr3:121976007 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001298030] Chr3:122283906 [GRCh38]
Chr3:122002753 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1880C>A (p.Thr627Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001301687]|not specified [RCV005419080] Chr3:122283834 [GRCh38]
Chr3:122002681 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.249C>G (p.Ser83Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001325517]|Nephrolithiasis/nephrocalcinosis [RCV004035166] Chr3:122257144 [GRCh38]
Chr3:121975991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3088A>G (p.Thr1030Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001307538] Chr3:122285042 [GRCh38]
Chr3:122003889 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3029A>G (p.His1010Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001365190]|Nephrolithiasis/nephrocalcinosis [RCV004036934] Chr3:122284983 [GRCh38]
Chr3:122003830 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.162G>C (p.Arg54Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001342401] Chr3:122254351 [GRCh38]
Chr3:121973198 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2085C>G (p.Ile695Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001346975] Chr3:122284039 [GRCh38]
Chr3:122002886 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3124C>G (p.Pro1042Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001347082] Chr3:122285078 [GRCh38]
Chr3:122003925 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005361576]|Familial hypocalciuric hypercalcemia [RCV001373982]|Nephrolithiasis/nephrocalcinosis [RCV004037594] Chr3:122283897 [GRCh38]
Chr3:122002744 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2770T>C (p.Phe924Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001338923]|Nephrolithiasis/nephrocalcinosis [RCV004035875] Chr3:122284724 [GRCh38]
Chr3:122003571 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.94A>T (p.Ile32Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001341024] Chr3:122254283 [GRCh38]
Chr3:121973130 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) duplication Familial hypocalciuric hypercalcemia 1 [RCV002499592]|Familial hypocalciuric hypercalcemia [RCV001309963]|Nephrolithiasis/nephrocalcinosis [RCV004034223] Chr3:122284745..122284746 [GRCh38]
Chr3:122003592..122003593 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.590T>G (p.Met197Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001368727] Chr3:122261625 [GRCh38]
Chr3:121980472 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.400C>T (p.His134Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001296304] Chr3:122257295 [GRCh38]
Chr3:121976142 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001310017]|Nephrolithiasis/nephrocalcinosis [RCV004034229] Chr3:122276006 [GRCh38]
Chr3:121994853 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001324340]|Nephrolithiasis/nephrocalcinosis [RCV004035125] Chr3:122283873 [GRCh38]
Chr3:122002720 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001347348] Chr3:122284826 [GRCh38]
Chr3:122003673 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.127G>A (p.Gly43Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023031]|Familial hypocalciuric hypercalcemia [RCV001319156] Chr3:122254316 [GRCh38]
Chr3:121973163 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038130]|Familial hypocalciuric hypercalcemia [RCV001361685]|Nephrolithiasis/nephrocalcinosis [RCV004036811] Chr3:122284647 [GRCh38]
Chr3:122003494 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.41C>A (p.Thr14Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001339077] Chr3:122254230 [GRCh38]
Chr3:121973077 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.536A>G (p.Gln179Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001342800]|Nephrolithiasis/nephrocalcinosis [RCV004036008] Chr3:122261571 [GRCh38]
Chr3:121980418 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.590T>A (p.Met197Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001347637] Chr3:122261625 [GRCh38]
Chr3:121980472 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2956G>A (p.Ala986Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001341351] Chr3:122284910 [GRCh38]
Chr3:122003757 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.970G>A (p.Ala324Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001302315] Chr3:122262005 [GRCh38]
Chr3:121980852 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1852C>G (p.Leu618Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001322390] Chr3:122283806 [GRCh38]
Chr3:122002653 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186G>A (p.Arg62=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001304372] Chr3:122257081 [GRCh38]
Chr3:121975928 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+6C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001361886] Chr3:122257393 [GRCh38]
Chr3:121976240 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3082del (p.Gln1028fs) deletion Familial hypocalciuric hypercalcemia [RCV001372832] Chr3:122285035 [GRCh38]
Chr3:122003882 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2135C>G (p.Thr712Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001352484] Chr3:122284089 [GRCh38]
Chr3:122002936 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001297592] Chr3:122284949 [GRCh38]
Chr3:122003796 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2389C>A (p.Leu797Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001339311] Chr3:122284343 [GRCh38]
Chr3:122003190 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001322451]|Nephrolithiasis/nephrocalcinosis [RCV004035068] Chr3:122275986 [GRCh38]
Chr3:121994833 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001323546]|not provided [RCV001751626] Chr3:122284244 [GRCh38]
Chr3:122003091 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.423G>A (p.Val141=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001350607] Chr3:122257318 [GRCh38]
Chr3:121976165 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.866C>T (p.Thr289Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001317301]|Nephrolithiasis/nephrocalcinosis [RCV004034419] Chr3:122261901 [GRCh38]
Chr3:121980748 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.55G>C (p.Ala19Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001318159] Chr3:122254244 [GRCh38]
Chr3:121973091 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.382T>A (p.Phe128Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001341567] Chr3:122257277 [GRCh38]
Chr3:121976124 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1205G>A (p.Ser402Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001347984] Chr3:122262240 [GRCh38]
Chr3:121981087 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.115C>T (p.Pro39Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001364279] Chr3:122254304 [GRCh38]
Chr3:121973151 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001337390]|Nephrolithiasis/nephrocalcinosis [RCV004035831] Chr3:122283954 [GRCh38]
Chr3:122002801 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001299688] Chr3:122285136 [GRCh38]
Chr3:122003983 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001345545] Chr3:122262410 [GRCh38]
Chr3:121981257 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2158G>A (p.Gly720Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001351646] Chr3:122284112 [GRCh38]
Chr3:122002959 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1497G>C (p.Glu499Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001299795]|Nephrolithiasis/nephrocalcinosis [RCV004036152] Chr3:122275931 [GRCh38]
Chr3:121994778 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.233T>C (p.Ile78Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001343317] Chr3:122257128 [GRCh38]
Chr3:121975975 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2014C>T (p.Pro672Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001321384] Chr3:122283968 [GRCh38]
Chr3:122002815 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023100]|Familial hypocalciuric hypercalcemia [RCV001367678] Chr3:122285089 [GRCh38]
Chr3:122003936 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.862A>G (p.Ile288Val) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001773726]|Familial hypocalciuric hypercalcemia [RCV001364568] Chr3:122261897 [GRCh38]
Chr3:121980744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1328T>C (p.Leu443Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001364583] Chr3:122262363 [GRCh38]
Chr3:121981210 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001326212]|Nephrolithiasis/nephrocalcinosis [RCV004035195] Chr3:122284974 [GRCh38]
Chr3:122003821 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.572A>G (p.Glu191Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001351753] Chr3:122261607 [GRCh38]
Chr3:121980454 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.889G>C (p.Glu297Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001319746]|not specified [RCV005236795] Chr3:122261924 [GRCh38]
Chr3:121980771 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.860A>G (p.Asn287Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001314560] Chr3:122261895 [GRCh38]
Chr3:121980742 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001871870]|Neonatal severe primary hyperparathyroidism [RCV001335285] Chr3:122284524 [GRCh38]
Chr3:122003371 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001360138] Chr3:122283741 [GRCh38]
Chr3:122002588 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3190A>G (p.Ile1064Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001366473] Chr3:122285144 [GRCh38]
Chr3:122003991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002032660]|not provided [RCV001663820] Chr3:122283855 [GRCh38]
Chr3:122002702 [GRCh37]
Chr3:3q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001859428]|Nephrolithiasis/nephrocalcinosis [RCV004039933]|not provided [RCV001663821] Chr3:122283977 [GRCh38]
Chr3:122002824 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1037G>A (p.Gly346Asp) single nucleotide variant not specified [RCV001420812] Chr3:122262072 [GRCh38]
Chr3:121980919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2269G>A (p.Glu757Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001315659] Chr3:122284223 [GRCh38]
Chr3:122003070 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1032_1034del (p.Asn345del) deletion Familial hypocalciuric hypercalcemia [RCV001366704] Chr3:122262066..122262068 [GRCh38]
Chr3:121980913..121980915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2713T>C (p.Ser905Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001366760] Chr3:122284667 [GRCh38]
Chr3:122003514 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.399G>A (p.Glu133=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001412444] Chr3:122257294 [GRCh38]
Chr3:121976141 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1669G>A (p.Gly557Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001366800] Chr3:122282173 [GRCh38]
Chr3:122001020 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV003339586]|Familial hypocalciuric hypercalcemia 1 [RCV005023015]|Familial hypocalciuric hypercalcemia [RCV001307336]|Nephrolithiasis/nephrocalcinosis [RCV004034122] Chr3:122284055 [GRCh38]
Chr3:122002902 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1487T>C (p.Leu496Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001367790] Chr3:122275921 [GRCh38]
Chr3:121994768 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1611G>C (p.Val537=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001394767] Chr3:122282115 [GRCh38]
Chr3:122000962 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2516T>C (p.Ile839Thr) single nucleotide variant Neurodevelopmental disorder [RCV001374975] Chr3:122284470 [GRCh38]
Chr3:122003317 [GRCh37]
Chr3:3q21.1		 likely pathogenic|no classifications from unflagged records
NM_000388.4(CASR):c.185+5G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001327499]|Nephrolithiasis/nephrocalcinosis [RCV004035242] Chr3:122254379 [GRCh38]
Chr3:121973226 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3087A>T (p.Glu1029Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001367461] Chr3:122285041 [GRCh38]
Chr3:122003888 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001352523]|Nephrolithiasis/nephrocalcinosis [RCV004036689] Chr3:122285177 [GRCh38]
Chr3:122004024 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1536C>T (p.Asn512=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001412742]|Nephrolithiasis/nephrocalcinosis [RCV004038094] Chr3:122275970 [GRCh38]
Chr3:121994817 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001370075]|Nephrolithiasis/nephrocalcinosis [RCV004037456] Chr3:122282209 [GRCh38]
Chr3:122001056 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038046]|Familial hypocalciuric hypercalcemia [RCV001302670]|Nephrolithiasis/nephrocalcinosis [RCV004036246] Chr3:122284548 [GRCh38]
Chr3:122003395 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2760C>T (p.Ser920=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001395010]|Nephrolithiasis/nephrocalcinosis [RCV004995743] Chr3:122284714 [GRCh38]
Chr3:122003561 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2730C>T (p.Pro910=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001395783]|Nephrolithiasis/nephrocalcinosis [RCV004037757] Chr3:122284684 [GRCh38]
Chr3:122003531 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2295C>T (p.Cys765=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001415835]|Nephrolithiasis/nephrocalcinosis [RCV004038128]|not specified [RCV001420749] Chr3:122284249 [GRCh38]
Chr3:122003096 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002476682]|Familial hypocalciuric hypercalcemia [RCV001368805]|Nephrolithiasis/nephrocalcinosis [RCV004037059] Chr3:122275824 [GRCh38]
Chr3:121994671 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1410A>C (p.Thr470=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001421280]|Nephrolithiasis/nephrocalcinosis [RCV004038192] Chr3:122275844 [GRCh38]
Chr3:121994691 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.181A>C (p.Ile61Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001315221] Chr3:122254370 [GRCh38]
Chr3:121973217 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001326049] Chr3:122284844 [GRCh38]
Chr3:122003691 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038156]|Familial hypocalciuric hypercalcemia [RCV003771217]|Nephrolithiasis/nephrocalcinosis [RCV004037624]|not specified [RCV001375498] Chr3:122284592 [GRCh38]
Chr3:122003439 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.156A>G (p.Lys52=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001421330]|Nephrolithiasis/nephrocalcinosis [RCV004038193] Chr3:122254345 [GRCh38]
Chr3:121973192 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001369431] Chr3:122262212 [GRCh38]
Chr3:121981059 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3138C>T (p.Asp1046=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001396077]|Nephrolithiasis/nephrocalcinosis [RCV004037762] Chr3:122285092 [GRCh38]
Chr3:122003939 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1088G>A (p.Gly363Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001315869] Chr3:122262123 [GRCh38]
Chr3:121980970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2295C>G (p.Cys765Trp) single nucleotide variant not specified [RCV001420811] Chr3:122284249 [GRCh38]
Chr3:122003096 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2415G>A (p.Lys805=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001421099]|Nephrolithiasis/nephrocalcinosis [RCV004038187] Chr3:122284369 [GRCh38]
Chr3:122003216 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.381G>A (p.Glu127=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001454399] Chr3:122257276 [GRCh38]
Chr3:121976123 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1608+9T>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001398906] Chr3:122276051 [GRCh38]
Chr3:121994898 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1860C>T (p.Ala620=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001404557]|Nephrolithiasis/nephrocalcinosis [RCV004037997] Chr3:122283814 [GRCh38]
Chr3:122002661 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.547_548del (p.Phe183fs) deletion Familial hypocalciuric hypercalcemia 1 [RCV005411740]|Familial hypocalciuric hypercalcemia [RCV001389476] Chr3:122261581..122261582 [GRCh38]
Chr3:121980428..121980429 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.333C>T (p.Thr111=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001473198]|Nephrolithiasis/nephrocalcinosis [RCV004037135] Chr3:122257228 [GRCh38]
Chr3:121976075 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.876C>T (p.Ile292=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002501718]|Familial hypocalciuric hypercalcemia [RCV001498832]|Nephrolithiasis/nephrocalcinosis [RCV004037397]|not specified [RCV003490259] Chr3:122261911 [GRCh38]
Chr3:121980758 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1608+10G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001487755] Chr3:122276052 [GRCh38]
Chr3:121994899 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.978G>A (p.Gln326=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001402490]|Nephrolithiasis/nephrocalcinosis [RCV004037832] Chr3:122262013 [GRCh38]
Chr3:121980860 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2448C>T (p.Ile816=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001470997]|Nephrolithiasis/nephrocalcinosis [RCV004037105] Chr3:122284402 [GRCh38]
Chr3:122003249 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2472C>T (p.Ala824=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001496635] Chr3:122284426 [GRCh38]
Chr3:122003273 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1609-4C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001496734] Chr3:122282109 [GRCh38]
Chr3:122000956 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2856G>A (p.Gln952=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001479160]|Nephrolithiasis/nephrocalcinosis [RCV004037189] Chr3:122284810 [GRCh38]
Chr3:122003657 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1212C>T (p.Val404=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001462548]|Hypercalcemia [RCV002272471]|Nephrolithiasis/nephrocalcinosis [RCV004038612] Chr3:122262247 [GRCh38]
Chr3:121981094 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.681A>G (p.Arg227=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001474166]|Nephrolithiasis/nephrocalcinosis [RCV004037148] Chr3:122261716 [GRCh38]
Chr3:121980563 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3096G>T (p.Leu1032=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001469107]|Nephrolithiasis/nephrocalcinosis [RCV004038681] Chr3:122285050 [GRCh38]
Chr3:122003897 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2262G>A (p.Gln754=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001500099]|Nephrolithiasis/nephrocalcinosis [RCV004037408] Chr3:122284216 [GRCh38]
Chr3:122003063 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1131C>T (p.His377=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001497168]|Nephrolithiasis/nephrocalcinosis [RCV004037374] Chr3:122262166 [GRCh38]
Chr3:121981013 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+9A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001462254] Chr3:122282245 [GRCh38]
Chr3:122001092 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.825T>C (p.Asp275=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002495683]|Familial hypocalciuric hypercalcemia [RCV001466653]|Nephrolithiasis/nephrocalcinosis [RCV004038656] Chr3:122261860 [GRCh38]
Chr3:121980707 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1017C>T (p.Pro339=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001466663]|Nephrolithiasis/nephrocalcinosis [RCV004038657] Chr3:122262052 [GRCh38]
Chr3:121980899 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2656C>A (p.Arg886=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001480823]|Nephrolithiasis/nephrocalcinosis [RCV004037210] Chr3:122284610 [GRCh38]
Chr3:122003457 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1704T>C (p.Cys568=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001475816] Chr3:122282208 [GRCh38]
Chr3:122001055 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3148T>C (p.Leu1050=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001393250]|Nephrolithiasis/nephrocalcinosis [RCV004037735] Chr3:122285102 [GRCh38]
Chr3:122003949 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2058C>T (p.Ile686=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001468575]|Nephrolithiasis/nephrocalcinosis [RCV004038674] Chr3:122284012 [GRCh38]
Chr3:122002859 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2598C>T (p.Arg866=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001487750] Chr3:122284552 [GRCh38]
Chr3:122003399 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.684G>A (p.Glu228=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001466469]|Nephrolithiasis/nephrocalcinosis [RCV004038655] Chr3:122261719 [GRCh38]
Chr3:121980566 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.420T>C (p.Ala140=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001472545]|Nephrolithiasis/nephrocalcinosis [RCV004037124] Chr3:122257315 [GRCh38]
Chr3:121976162 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1527G>A (p.Gly509=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001474769]|Nephrolithiasis/nephrocalcinosis [RCV004037156] Chr3:122275961 [GRCh38]
Chr3:121994808 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2739C>T (p.Ser913=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001426963]|Nephrolithiasis/nephrocalcinosis [RCV004038243] Chr3:122284693 [GRCh38]
Chr3:122003540 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001379696]|not provided [RCV001664859] Chr3:122262411 [GRCh38]
Chr3:121981258 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.543G>A (p.Lys181=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001442882]|Nephrolithiasis/nephrocalcinosis [RCV004601501] Chr3:122261578 [GRCh38]
Chr3:121980425 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1431G>C (p.Val477=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001424075]|Nephrolithiasis/nephrocalcinosis [RCV004038218] Chr3:122275865 [GRCh38]
Chr3:121994712 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1284C>T (p.Ala428=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001488662] Chr3:122262319 [GRCh38]
Chr3:121981166 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2934C>T (p.Ser978=) single nucleotide variant CASR-related disorder [RCV004758800]|Familial hypocalciuric hypercalcemia [RCV001448770]|Nephrolithiasis/nephrocalcinosis [RCV004038468] Chr3:122284888 [GRCh38]
Chr3:122003735 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2499C>T (p.Val833=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001418473] Chr3:122284453 [GRCh38]
Chr3:122003300 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2439C>T (p.Ile813=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002499901]|Familial hypocalciuric hypercalcemia [RCV001419919]|Nephrolithiasis/nephrocalcinosis [RCV004038178] Chr3:122284393 [GRCh38]
Chr3:122003240 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.801C>A (p.Ile267=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001430023]|Nephrolithiasis/nephrocalcinosis [RCV004038280] Chr3:122261836 [GRCh38]
Chr3:121980683 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1788C>T (p.Thr596=) single nucleotide variant CASR-related disorder [RCV004554866]|Familial hypocalciuric hypercalcemia 1 [RCV002501562]|Familial hypocalciuric hypercalcemia [RCV001443470]|Nephrolithiasis/nephrocalcinosis [RCV004038417]|not specified [RCV004699383] Chr3:122283742 [GRCh38]
Chr3:122002589 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2334C>T (p.Gly778=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001435918]|Nephrolithiasis/nephrocalcinosis [RCV004038340] Chr3:122284288 [GRCh38]
Chr3:122003135 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.717C>T (p.Phe239=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001409710]|Nephrolithiasis/nephrocalcinosis [RCV004038057] Chr3:122261752 [GRCh38]
Chr3:121980599 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.237G>A (p.Glu79=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001404845] Chr3:122257132 [GRCh38]
Chr3:121975979 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-7T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001409904] Chr3:122275805 [GRCh38]
Chr3:121994652 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2781C>G (p.Pro927=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001430257]|Nephrolithiasis/nephrocalcinosis [RCV004038285] Chr3:122284735 [GRCh38]
Chr3:122003582 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1054del (p.Trp352fs) deletion Familial hypocalciuric hypercalcemia [RCV001388364] Chr3:122262086 [GRCh38]
Chr3:121980933 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2955_2956delinsTT (p.Ala986Ser) indel Familial hypocalciuric hypercalcemia [RCV001430695] Chr3:122284909..122284910 [GRCh38]
Chr3:122003756..122003757 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.264T>C (p.Leu88=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001444242] Chr3:122257159 [GRCh38]
Chr3:121976006 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2235C>T (p.Thr745=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001405426]|Nephrolithiasis/nephrocalcinosis [RCV004038008] Chr3:122284189 [GRCh38]
Chr3:122003036 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1233C>T (p.Tyr411=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001410449]|Nephrolithiasis/nephrocalcinosis [RCV004038065] Chr3:122262268 [GRCh38]
Chr3:121981115 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1381C>T (p.Leu461=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001436119]|Nephrolithiasis/nephrocalcinosis [RCV004038342] Chr3:122275815 [GRCh38]
Chr3:121994662 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.286A>C (p.Arg96=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001403613]|Nephrolithiasis/nephrocalcinosis [RCV004611806] Chr3:122257181 [GRCh38]
Chr3:121976028 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.567T>C (p.Asn189=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001444464]|Nephrolithiasis/nephrocalcinosis [RCV004038427] Chr3:122261602 [GRCh38]
Chr3:121980449 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.903C>T (p.Ser301=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001437132]|Nephrolithiasis/nephrocalcinosis [RCV004038353] Chr3:122261938 [GRCh38]
Chr3:121980785 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.756C>A (p.Ile252=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001428724]|Nephrolithiasis/nephrocalcinosis [RCV004601497] Chr3:122261791 [GRCh38]
Chr3:121980638 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.666G>A (p.Gly222=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001431032]|Nephrolithiasis/nephrocalcinosis [RCV004038292] Chr3:122261701 [GRCh38]
Chr3:121980548 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1959C>T (p.Leu653=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001403205]|Nephrolithiasis/nephrocalcinosis [RCV004037987] Chr3:122283913 [GRCh38]
Chr3:122002760 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs) duplication Familial hypocalciuric hypercalcemia [RCV001379721] Chr3:122284249..122284250 [GRCh38]
Chr3:122003096..122003097 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2874G>A (p.Gln958=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001408220]|Nephrolithiasis/nephrocalcinosis [RCV004038037] Chr3:122284828 [GRCh38]
Chr3:122003675 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2254del (p.Arg752fs) deletion Familial hypocalciuric hypercalcemia [RCV001379475] Chr3:122284207 [GRCh38]
Chr3:122003054 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer) deletion Familial hypocalciuric hypercalcemia [RCV001388368] Chr3:122283727..122283728 [GRCh38]
Chr3:122002574..122002575 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1732+10C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001408689] Chr3:122282246 [GRCh38]
Chr3:122001093 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.354C>T (p.Asn118=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001419495]|Nephrolithiasis/nephrocalcinosis [RCV004038168] Chr3:122257249 [GRCh38]
Chr3:121976096 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1179C>G (p.Pro393=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001440365]|Nephrolithiasis/nephrocalcinosis [RCV004038382] Chr3:122262214 [GRCh38]
Chr3:121981061 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) single nucleotide variant CASR-related disorder [RCV004554860]|Familial hypocalciuric hypercalcemia [RCV001384283]|not provided [RCV001587390] Chr3:122262091 [GRCh38]
Chr3:121980938 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.924_925dup (p.Gln309fs) duplication Familial hypocalciuric hypercalcemia [RCV001387820] Chr3:122261957..122261958 [GRCh38]
Chr3:121980804..121980805 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.507C>T (p.Ser169=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001448233]|Nephrolithiasis/nephrocalcinosis [RCV004995828] Chr3:122261542 [GRCh38]
Chr3:121980389 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2268G>A (p.Leu756=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001402939]|Nephrolithiasis/nephrocalcinosis [RCV004037981] Chr3:122284222 [GRCh38]
Chr3:122003069 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3156A>C (p.Pro1052=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001418233]|Nephrolithiasis/nephrocalcinosis [RCV004038154] Chr3:122285110 [GRCh38]
Chr3:122003957 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1572C>T (p.Asn524=) single nucleotide variant CASR-related disorder [RCV004554864]|Familial hypocalciuric hypercalcemia [RCV001406521]|Nephrolithiasis/nephrocalcinosis [RCV004038017] Chr3:122276006 [GRCh38]
Chr3:121994853 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1653G>A (p.Arg551=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001409056]|Nephrolithiasis/nephrocalcinosis [RCV004038051] Chr3:122282157 [GRCh38]
Chr3:122001004 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.759G>A (p.Gln253=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001438519]|Nephrolithiasis/nephrocalcinosis [RCV004038368] Chr3:122261794 [GRCh38]
Chr3:121980641 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001382148] Chr3:122262116 [GRCh38]
Chr3:121980963 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1914C>T (p.Arg638=) single nucleotide variant CASR-related disorder [RCV004731150]|Familial hypocalciuric hypercalcemia [RCV001440772]|Nephrolithiasis/nephrocalcinosis [RCV004038385] Chr3:122283868 [GRCh38]
Chr3:122002715 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.831G>A (p.Glu277=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001490044]|Nephrolithiasis/nephrocalcinosis [RCV004037303] Chr3:122261866 [GRCh38]
Chr3:121980713 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+10C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001450683]|not provided [RCV001664883] Chr3:122282246 [GRCh38]
Chr3:122001093 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2130C>T (p.Ile710=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001458204]|Nephrolithiasis/nephrocalcinosis [RCV004038565] Chr3:122284084 [GRCh38]
Chr3:122002931 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.315T>C (p.Ser105=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001450557] Chr3:122257210 [GRCh38]
Chr3:121976057 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2244G>A (p.Pro748=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001454631] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1977C>T (p.Leu659=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001465477] Chr3:122283931 [GRCh38]
Chr3:122002778 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2556C>T (p.Ile852=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001476011]|Nephrolithiasis/nephrocalcinosis [RCV004037167] Chr3:122284510 [GRCh38]
Chr3:122003357 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+9G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001458789] Chr3:122257396 [GRCh38]
Chr3:121976243 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2151G>A (p.Lys717=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001486693]|Nephrolithiasis/nephrocalcinosis [RCV005308473] Chr3:122284105 [GRCh38]
Chr3:122002952 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1278C>T (p.Ser426=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001499799]|Nephrolithiasis/nephrocalcinosis [RCV004037403] Chr3:122262313 [GRCh38]
Chr3:121981160 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.852C>A (p.Val284=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001496802]|Nephrolithiasis/nephrocalcinosis [RCV004037370] Chr3:122261887 [GRCh38]
Chr3:121980734 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2317C>T (p.Leu773=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001469665]|Nephrolithiasis/nephrocalcinosis [RCV004037096] Chr3:122284271 [GRCh38]
Chr3:122003118 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2394G>A (p.Pro798=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001503573]|Nephrolithiasis/nephrocalcinosis [RCV004037441] Chr3:122284348 [GRCh38]
Chr3:122003195 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1092A>C (p.Ala364=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001500134]|Nephrolithiasis/nephrocalcinosis [RCV004611839] Chr3:122262127 [GRCh38]
Chr3:121980974 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.636T>C (p.Ile212=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001477428] Chr3:122261671 [GRCh38]
Chr3:121980518 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2952G>A (p.Lys984=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001459668]|Nephrolithiasis/nephrocalcinosis [RCV004995850] Chr3:122284906 [GRCh38]
Chr3:122003753 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1453C>T (p.Leu485=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001497733]|Nephrolithiasis/nephrocalcinosis [RCV004037384] Chr3:122275887 [GRCh38]
Chr3:121994734 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2211C>A (p.Val737=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001470686]|Nephrolithiasis/nephrocalcinosis [RCV004037104] Chr3:122284165 [GRCh38]
Chr3:122003012 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+9_185+10del microsatellite Familial hypocalciuric hypercalcemia [RCV001500745] Chr3:122254381..122254382 [GRCh38]
Chr3:121973228..121973229 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.91dup (p.Asp31fs) duplication Familial hypocalciuric hypercalcemia [RCV001582352] Chr3:122254275..122254276 [GRCh38]
Chr3:121973122..121973123 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2739C>A (p.Ser913=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001456488]|Nephrolithiasis/nephrocalcinosis [RCV004038555] Chr3:122284693 [GRCh38]
Chr3:122003540 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2844G>A (p.Leu948=) single nucleotide variant CASR-related disorder [RCV004554867]|Familial hypocalciuric hypercalcemia 1 [RCV002501608]|Familial hypocalciuric hypercalcemia [RCV001460792]|Nephrolithiasis/nephrocalcinosis [RCV004038592]|not specified [RCV004699390] Chr3:122284798 [GRCh38]
Chr3:122003645 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1809C>A (p.Ile603=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001460539]|Nephrolithiasis/nephrocalcinosis [RCV004038588] Chr3:122283763 [GRCh38]
Chr3:122002610 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.630C>G (p.Gly210=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001498466]|Nephrolithiasis/nephrocalcinosis [RCV004037393] Chr3:122261665 [GRCh38]
Chr3:121980512 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2229C>G (p.Leu743=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001504928]|Nephrolithiasis/nephrocalcinosis [RCV004037842] Chr3:122284183 [GRCh38]
Chr3:122003030 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.300T>G (p.Thr100=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001484799]|Nephrolithiasis/nephrocalcinosis [RCV004037244] Chr3:122257195 [GRCh38]
Chr3:121976042 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2418C>T (p.Phe806=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001471770]|Nephrolithiasis/nephrocalcinosis [RCV004037117] Chr3:122284372 [GRCh38]
Chr3:122003219 [GRCh37]
Chr3:3q21.1		 likely benign
NC_000003.12:g.122183002G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001516276] Chr3:122183002 [GRCh38]
Chr3:121901849 [GRCh37]
Chr3:3q13.33		 benign
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023123]|Familial hypocalciuric hypercalcemia [RCV001377998]|Familial hypocalciuric hypercalcemia [RCV004699352]|not provided [RCV004793471] Chr3:122275959 [GRCh38]
Chr3:121994806 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.51C>T (p.Thr17=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001450968]|Nephrolithiasis/nephrocalcinosis [RCV004038488] Chr3:122254240 [GRCh38]
Chr3:121973087 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1884C>A (p.Ala628=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001470178]|Nephrolithiasis/nephrocalcinosis [RCV004037100] Chr3:122283838 [GRCh38]
Chr3:122002685 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1224C>T (p.Tyr408=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001473401]|Nephrolithiasis/nephrocalcinosis [RCV004037139] Chr3:122262259 [GRCh38]
Chr3:121981106 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1809C>T (p.Ile603=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001403254]|Nephrolithiasis/nephrocalcinosis [RCV004601489] Chr3:122283763 [GRCh38]
Chr3:122002610 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.63G>A (p.Gly21=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001405790] Chr3:122254252 [GRCh38]
Chr3:121973099 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1868del (p.Gly623fs) deletion Familial hypocalciuric hypercalcemia [RCV001390641]|Familial hypocalciuric hypercalcemia [RCV004690100] Chr3:122283820 [GRCh38]
Chr3:122002667 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2826G>A (p.Glu942=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001403505] Chr3:122284780 [GRCh38]
Chr3:122003627 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2034C>T (p.Arg678=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001455438]|Nephrolithiasis/nephrocalcinosis [RCV004038545] Chr3:122283988 [GRCh38]
Chr3:122002835 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3216A>C (p.Thr1072=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001469426]|Nephrolithiasis/nephrocalcinosis [RCV004038684] Chr3:122285170 [GRCh38]
Chr3:122004017 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2244G>T (p.Pro748=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001476065] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1587G>A (p.Leu529=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001480250] Chr3:122276021 [GRCh38]
Chr3:121994868 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2718G>A (p.Thr906=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001502044]|Nephrolithiasis/nephrocalcinosis [RCV004037434] Chr3:122284672 [GRCh38]
Chr3:122003519 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.964C>T (p.Leu322=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001469525]|Nephrolithiasis/nephrocalcinosis [RCV004995865] Chr3:122261999 [GRCh38]
Chr3:121980846 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002568134]|Nephrolithiasis/nephrocalcinosis [RCV004039184]|not specified [RCV001526940] Chr3:122261649 [GRCh38]
Chr3:121980496 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003771627]|not provided [RCV004793510]|not specified [RCV001526960] Chr3:122261589 [GRCh38]
Chr3:121980436 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.111C>T (p.Leu37=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001457393] Chr3:122254300 [GRCh38]
Chr3:121973147 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2895G>A (p.Lys965=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001417663]|Nephrolithiasis/nephrocalcinosis [RCV004038148] Chr3:122284849 [GRCh38]
Chr3:122003696 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.603C>T (p.Ile201=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001496851]|Nephrolithiasis/nephrocalcinosis [RCV004037372] Chr3:122261638 [GRCh38]
Chr3:121980485 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.90G>A (p.Gly30=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001443196]|Nephrolithiasis/nephrocalcinosis [RCV004038414] Chr3:122254279 [GRCh38]
Chr3:121973126 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1842C>T (p.Ile614=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001423387]|Nephrolithiasis/nephrocalcinosis [RCV004038211] Chr3:122283796 [GRCh38]
Chr3:122002643 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2802G>A (p.Gln934=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001496597]|Nephrolithiasis/nephrocalcinosis [RCV004037367] Chr3:122284756 [GRCh38]
Chr3:122003603 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1548G>A (p.Lys516=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001456010] Chr3:122275982 [GRCh38]
Chr3:121994829 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.945C>T (p.Gly315=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001425533]|Nephrolithiasis/nephrocalcinosis [RCV004038232] Chr3:122261980 [GRCh38]
Chr3:121980827 [GRCh37]
Chr3:3q21.1		 likely benign
NC_000003.11:g.(?_121973037)_(122004038_?)del deletion Familial hypocalciuric hypercalcemia [RCV001383825] Chr3:121973037..122004038 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1575G>A (p.Glu525=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001404609]|Nephrolithiasis/nephrocalcinosis [RCV004037998] Chr3:122276009 [GRCh38]
Chr3:121994856 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2179C>T (p.Leu727=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001430240]|Nephrolithiasis/nephrocalcinosis [RCV004038283] Chr3:122284133 [GRCh38]
Chr3:122002980 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.735G>A (p.Gln245=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001500961]|Nephrolithiasis/nephrocalcinosis [RCV004037419] Chr3:122261770 [GRCh38]
Chr3:121980617 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.63G>C (p.Gly21=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001434989]|Nephrolithiasis/nephrocalcinosis [RCV004038330] Chr3:122254252 [GRCh38]
Chr3:121973099 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1716G>A (p.Glu572=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001424116]|not specified [RCV002268484] Chr3:122282220 [GRCh38]
Chr3:122001067 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1257T>C (p.Asn419=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001424364] Chr3:122262292 [GRCh38]
Chr3:121981139 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1425G>A (p.Glu475=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001438971]|Nephrolithiasis/nephrocalcinosis [RCV004038370] Chr3:122275859 [GRCh38]
Chr3:121994706 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3000C>G (p.Ala1000=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001439047]|Nephrolithiasis/nephrocalcinosis [RCV004038371] Chr3:122284954 [GRCh38]
Chr3:122003801 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1080C>A (p.Leu360=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001462358]|Nephrolithiasis/nephrocalcinosis [RCV004038611] Chr3:122262115 [GRCh38]
Chr3:121980962 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3045G>A (p.Pro1015=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001455104]|Nephrolithiasis/nephrocalcinosis [RCV004038543] Chr3:122284999 [GRCh38]
Chr3:122003846 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.271T>C (p.Leu91=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001465299]|Nephrolithiasis/nephrocalcinosis [RCV004038637] Chr3:122257166 [GRCh38]
Chr3:121976013 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2415del (p.Lys805fs) deletion Familial hypocalciuric hypercalcemia [RCV001377943] Chr3:122284369 [GRCh38]
Chr3:122003216 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.971C>A (p.Ala324Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003104832]|Nephrolithiasis/nephrocalcinosis [RCV004992563] Chr3:122262006 [GRCh38]
Chr3:121980853 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.157T>C (p.Ser53Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002238566] Chr3:122254346 [GRCh38]
Chr3:121973193 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV001730102]|Familial hypocalciuric hypercalcemia 1 [RCV002477905]|not provided [RCV002265031] Chr3:122284460 [GRCh38]
Chr3:122003307 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.418G>A (p.Ala140Thr) single nucleotide variant not specified [RCV005237155] Chr3:122257313 [GRCh38]
Chr3:121976160 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV002272633] Chr3:122284470 [GRCh38]
Chr3:122003317 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2335T>C (p.Tyr779His) single nucleotide variant not specified [RCV001779514] Chr3:122284289 [GRCh38]
Chr3:122003136 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.108del (p.Leu37fs) deletion Familial hypocalciuric hypercalcemia [RCV001779533] Chr3:122254292 [GRCh38]
Chr3:121973139 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1933G>A (p.Ala645Thr) single nucleotide variant not specified [RCV001733366] Chr3:122283887 [GRCh38]
Chr3:122002734 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.879G>T (p.Trp293Cys) single nucleotide variant not provided [RCV001768822] Chr3:122261914 [GRCh38]
Chr3:121980761 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2527G>T (p.Ala843Ser) single nucleotide variant not provided [RCV001780720] Chr3:122284481 [GRCh38]
Chr3:122003328 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025480]|Familial hypocalciuric hypercalcemia [RCV001982642]|Nephrolithiasis/nephrocalcinosis [RCV004043704] Chr3:122284994 [GRCh38]
Chr3:122003841 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2371G>A (p.Ala791Thr) single nucleotide variant not provided [RCV001770917] Chr3:122284325 [GRCh38]
Chr3:122003172 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) single nucleotide variant CASR-related disorder [RCV004554870]|Familial hypocalciuric hypercalcemia [RCV001868777]|Nephrolithiasis/nephrocalcinosis [RCV004040745]|not provided [RCV003238587]|not specified [RCV003388041] Chr3:122261760 [GRCh38]
Chr3:121980607 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.325G>A (p.Glu109Lys) single nucleotide variant not provided [RCV003238588] Chr3:122257220 [GRCh38]
Chr3:121976067 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1997T>C (p.Leu666Pro) single nucleotide variant not specified [RCV001797880] Chr3:122283951 [GRCh38]
Chr3:122002798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003772191]|not specified [RCV001797881] Chr3:122275878 [GRCh38]
Chr3:121994725 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1367A>G (p.Glu456Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004040862]|not specified [RCV001797882] Chr3:122262402 [GRCh38]
Chr3:121981249 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1A>G (p.Met1Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001779505]|Familial hypocalciuric hypercalcemia [RCV005213591] Chr3:122254190 [GRCh38]
Chr3:121973037 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.173T>A (p.Val58Glu) single nucleotide variant not specified [RCV001779506] Chr3:122254362 [GRCh38]
Chr3:121973209 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.666del (p.Ile223fs) deletion Familial hypocalciuric hypercalcemia [RCV001779470]|Familial hypocalciuric hypercalcemia [RCV001868823] Chr3:122261698 [GRCh38]
Chr3:121980545 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001868824]|not specified [RCV001779485] Chr3:122284402 [GRCh38]
Chr3:122003249 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.624G>T (p.Trp208Cys) single nucleotide variant not provided [RCV001762949] Chr3:122261659 [GRCh38]
Chr3:121980506 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1589G>A (p.Trp530Ter) single nucleotide variant CASR-related disorder [RCV004554874]|Hypocalcemia [RCV001795868] Chr3:122276023 [GRCh38]
Chr3:121994870 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1802A>G (p.Lys601Arg) single nucleotide variant not specified [RCV001779457] Chr3:122283756 [GRCh38]
Chr3:122002603 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2404A>C (p.Asn802His) single nucleotide variant not provided [RCV001817990] Chr3:122284358 [GRCh38]
Chr3:122003205 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004785317]|Nephrolithiasis/nephrocalcinosis [RCV004040907]|not provided [RCV001806882] Chr3:122261699 [GRCh38]
Chr3:121980546 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.295G>A (p.Asp99Asn) single nucleotide variant not specified [RCV004800073] Chr3:122257190 [GRCh38]
Chr3:121976037 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2014_2025del (p.Pro672_Trp675del) deletion not specified [RCV001806723] Chr3:122283967..122283978 [GRCh38]
Chr3:122002814..122002825 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.628G>T (p.Gly210Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002001955] Chr3:122261663 [GRCh38]
Chr3:121980510 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.335T>C (p.Leu112Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001987871] Chr3:122257230 [GRCh38]
Chr3:121976077 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002507594]|Familial hypocalciuric hypercalcemia [RCV001929374]|Nephrolithiasis/nephrocalcinosis [RCV004044318] Chr3:122284055 [GRCh38]
Chr3:122002902 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2148dup (p.Lys717fs) duplication Familial hypocalciuric hypercalcemia [RCV001969834] Chr3:122284101..122284102 [GRCh38]
Chr3:122002948..122002949 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2849T>C (p.Leu950Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001896537] Chr3:122284803 [GRCh38]
Chr3:122003650 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2503G>C (p.Ala835Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001988597] Chr3:122284457 [GRCh38]
Chr3:122003304 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001864120]|Nephrolithiasis/nephrocalcinosis [RCV004039658] Chr3:122285016 [GRCh38]
Chr3:122003863 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1567A>G (p.Ile523Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001947437]|Nephrolithiasis/nephrocalcinosis [RCV004040408] Chr3:122276001 [GRCh38]
Chr3:121994848 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2006T>C (p.Ile669Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001895013] Chr3:122283960 [GRCh38]
Chr3:122002807 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378-1G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001825078]|Familial hypocalciuric hypercalcemia [RCV002542765] Chr3:122275811 [GRCh38]
Chr3:121994658 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.953T>C (p.Ile318Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001988717] Chr3:122261988 [GRCh38]
Chr3:121980835 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2143C>T (p.His715Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002024174]|Nephrolithiasis/nephrocalcinosis [RCV004046940]|not provided [RCV004793712] Chr3:122284097 [GRCh38]
Chr3:122002944 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.242T>C (p.Ile81Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002025615] Chr3:122257137 [GRCh38]
Chr3:121975984 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.523A>G (p.Ser175Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001912606]|Nephrolithiasis/nephrocalcinosis [RCV004041636] Chr3:122261558 [GRCh38]
Chr3:121980405 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.67G>A (p.Asp23Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001914867]|Nephrolithiasis/nephrocalcinosis [RCV004041158] Chr3:122254256 [GRCh38]
Chr3:121973103 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002045171]|Nephrolithiasis/nephrocalcinosis [RCV003365642] Chr3:122284120 [GRCh38]
Chr3:122002967 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1135G>A (p.Glu379Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002009044]|Nephrolithiasis/nephrocalcinosis [RCV004045246] Chr3:122262170 [GRCh38]
Chr3:121981017 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002045491] Chr3:122275816 [GRCh38]
Chr3:121994663 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001986495]|Nephrolithiasis/nephrocalcinosis [RCV004045341]|not specified [RCV002246644] Chr3:122285018 [GRCh38]
Chr3:122003865 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001948063]|Nephrolithiasis/nephrocalcinosis [RCV004043559] Chr3:122283771 [GRCh38]
Chr3:122002618 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005038365]|Familial hypocalciuric hypercalcemia [RCV002044790] Chr3:122261756 [GRCh38]
Chr3:121980603 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001908868]|Nephrolithiasis/nephrocalcinosis [RCV004042561] Chr3:122283776 [GRCh38]
Chr3:122002623 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1876C>A (p.Leu626Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001928545] Chr3:122283830 [GRCh38]
Chr3:122002677 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001949911] Chr3:122284829 [GRCh38]
Chr3:122003676 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002482429]|Familial hypocalciuric hypercalcemia [RCV002039460]|Nephrolithiasis/nephrocalcinosis [RCV004038856] Chr3:122254242 [GRCh38]
Chr3:121973089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001970738] Chr3:122282149 [GRCh38]
Chr3:122000996 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002024560]|Nephrolithiasis/nephrocalcinosis [RCV004046957] Chr3:122284958 [GRCh38]
Chr3:122003805 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002008698] Chr3:122285024 [GRCh38]
Chr3:122003871 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.968A>C (p.Lys323Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001874269]|Nephrolithiasis/nephrocalcinosis [RCV004039763] Chr3:122262003 [GRCh38]
Chr3:121980850 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001896335] Chr3:122282218 [GRCh38]
Chr3:122001065 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.149A>G (p.Asp50Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001896880] Chr3:122254338 [GRCh38]
Chr3:121973185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1237C>T (p.His413Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001891055] Chr3:122262272 [GRCh38]
Chr3:121981119 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1637G>T (p.Cys546Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002003754]|not provided [RCV005054398] Chr3:122282141 [GRCh38]
Chr3:122000988 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001966219]|not specified [RCV002266075] Chr3:122283903 [GRCh38]
Chr3:122002750 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.565A>C (p.Asn189His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001870868] Chr3:122261600 [GRCh38]
Chr3:121980447 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.973G>C (p.Gly325Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002042032] Chr3:122262008 [GRCh38]
Chr3:121980855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002005653] Chr3:122275951 [GRCh38]
Chr3:121994798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2471C>T (p.Ala824Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002040004]|Nephrolithiasis/nephrocalcinosis [RCV004038948] Chr3:122284425 [GRCh38]
Chr3:122003272 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2903T>C (p.Phe968Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001889909] Chr3:122284857 [GRCh38]
Chr3:122003704 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2871G>C (p.Gln957His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001985459]|Nephrolithiasis/nephrocalcinosis [RCV004043759] Chr3:122284825 [GRCh38]
Chr3:122003672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002006040] Chr3:122284286 [GRCh38]
Chr3:122003133 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1099C>T (p.Pro367Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001965055] Chr3:122262134 [GRCh38]
Chr3:121980981 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.948C>T (p.Gly316=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002039520] Chr3:122261983 [GRCh38]
Chr3:121980830 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2470G>A (p.Ala824Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002003131] Chr3:122284424 [GRCh38]
Chr3:122003271 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1550A>T (p.Lys517Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001909244] Chr3:122275984 [GRCh38]
Chr3:121994831 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.821C>T (p.Pro274Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001893293]|Nephrolithiasis/nephrocalcinosis [RCV004041434] Chr3:122261856 [GRCh38]
Chr3:121980703 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3088dup (p.Thr1030fs) duplication Familial hypocalciuric hypercalcemia [RCV001965442] Chr3:122285039..122285040 [GRCh38]
Chr3:122003886..122003887 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2168T>G (p.Leu723Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001894515] Chr3:122284122 [GRCh38]
Chr3:122002969 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002003517]|Nephrolithiasis/nephrocalcinosis [RCV004045196] Chr3:122284748 [GRCh38]
Chr3:122003595 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2048C>T (p.Ala683Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001912544]|not specified [RCV004526156] Chr3:122284002 [GRCh38]
Chr3:122002849 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1169C>A (p.Ala390Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001894571]|Nephrolithiasis/nephrocalcinosis [RCV004040431] Chr3:122262204 [GRCh38]
Chr3:121981051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.112_113insC (p.Phe38fs) insertion Familial hypocalciuric hypercalcemia [RCV001983000] Chr3:122254301..122254302 [GRCh38]
Chr3:121973148..121973149 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3082C>T (p.Gln1028Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001911346] Chr3:122285036 [GRCh38]
Chr3:122003883 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1463A>T (p.Asn488Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001927147] Chr3:122275897 [GRCh38]
Chr3:121994744 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2959A>G (p.Met987Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001970526] Chr3:122284913 [GRCh38]
Chr3:122003760 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2692C>T (p.Arg898Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001966167] Chr3:122284646 [GRCh38]
Chr3:122003493 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1880C>T (p.Thr627Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001895053] Chr3:122283834 [GRCh38]
Chr3:122002681 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala) indel Familial hypocalciuric hypercalcemia [RCV001969907] Chr3:122284198..122284199 [GRCh38]
Chr3:122003045..122003046 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002004096] Chr3:122285104 [GRCh38]
Chr3:122003951 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs) deletion Familial hypocalciuric hypercalcemia [RCV001913409] Chr3:122284486..122284498 [GRCh38]
Chr3:122003333..122003345 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001908545]|Nephrolithiasis/nephrocalcinosis [RCV004039097] Chr3:122262357 [GRCh38]
Chr3:121981204 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2019G>C (p.Gln673His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002023848] Chr3:122283973 [GRCh38]
Chr3:122002820 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001911677] Chr3:122285004 [GRCh38]
Chr3:122003851 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2030del (p.Cys677fs) deletion Familial hypocalciuric hypercalcemia [RCV001912272] Chr3:122283984 [GRCh38]
Chr3:122002831 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002482550]|Familial hypocalciuric hypercalcemia [RCV001947476]|Nephrolithiasis/nephrocalcinosis [RCV004040413] Chr3:122285151 [GRCh38]
Chr3:122003998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2884T>C (p.Cys962Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001928361] Chr3:122284838 [GRCh38]
Chr3:122003685 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.296A>T (p.Asp99Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001911203] Chr3:122257191 [GRCh38]
Chr3:121976038 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.926A>T (p.Gln309Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002008063] Chr3:122261961 [GRCh38]
Chr3:121980808 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.188A>G (p.Tyr63Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002008073]|not provided [RCV004720994] Chr3:122257083 [GRCh38]
Chr3:121975930 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1888G>A (p.Val630Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001890742] Chr3:122283842 [GRCh38]
Chr3:122002689 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984134]|Familial hypocalciuric hypercalcemia [RCV001893184]|Nephrolithiasis/nephrocalcinosis [RCV004041431] Chr3:122284692 [GRCh38]
Chr3:122003539 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.931T>G (p.Phe311Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001872439] Chr3:122261966 [GRCh38]
Chr3:121980813 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002042261] Chr3:122262225 [GRCh38]
Chr3:121981072 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.131T>A (p.Val44Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001913027]|Nephrolithiasis/nephrocalcinosis [RCV004041791] Chr3:122254320 [GRCh38]
Chr3:121973167 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu) indel Familial hypocalciuric hypercalcemia [RCV001967150] Chr3:122262078..122262079 [GRCh38]
Chr3:121980925..121980926 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.94A>G (p.Ile32Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001986789] Chr3:122254283 [GRCh38]
Chr3:121973130 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001871211] Chr3:122283780 [GRCh38]
Chr3:122002627 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2084T>C (p.Ile695Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001872673] Chr3:122284038 [GRCh38]
Chr3:122002885 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2087T>A (p.Leu696Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001872667] Chr3:122284041 [GRCh38]
Chr3:122002888 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001912618] Chr3:122283962 [GRCh38]
Chr3:122002809 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.574C>A (p.His192Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001913081] Chr3:122261609 [GRCh38]
Chr3:121980456 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+14A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001983368] Chr3:122276056 [GRCh38]
Chr3:121994903 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.20G>C (p.Cys7Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002023510] Chr3:122254209 [GRCh38]
Chr3:121973056 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002007310]|not provided [RCV002512168] Chr3:122257244 [GRCh38]
Chr3:121976091 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1377+19T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002041967] Chr3:122262431 [GRCh38]
Chr3:121981278 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.2760C>G (p.Ser920Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001966626] Chr3:122284714 [GRCh38]
Chr3:122003561 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.528del (p.Asn176fs) deletion Familial hypocalciuric hypercalcemia [RCV001891852] Chr3:122261563 [GRCh38]
Chr3:121980410 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3120G>T (p.Gln1040His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002021117]|Nephrolithiasis/nephrocalcinosis [RCV004046840] Chr3:122285074 [GRCh38]
Chr3:122003921 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3207del (p.Ser1069fs) deletion Familial hypocalciuric hypercalcemia [RCV002039828]|Nephrolithiasis/nephrocalcinosis [RCV004038944] Chr3:122285161 [GRCh38]
Chr3:122004008 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3001C>G (p.Gln1001Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001963671] Chr3:122284955 [GRCh38]
Chr3:122003802 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001963674] Chr3:122262089 [GRCh38]
Chr3:121980936 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002482487]|Familial hypocalciuric hypercalcemia [RCV001878681]|Nephrolithiasis/nephrocalcinosis [RCV004039662] Chr3:122275932 [GRCh38]
Chr3:121994779 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2826G>T (p.Glu942Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002001168] Chr3:122284780 [GRCh38]
Chr3:122003627 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001907404]|Nephrolithiasis/nephrocalcinosis [RCV004039761]|not provided [RCV003146275] Chr3:122262068 [GRCh38]
Chr3:121980915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3224T>C (p.Val1075Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002038006] Chr3:122285178 [GRCh38]
Chr3:122004025 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2870AGC[2] (p.Gln959del) microsatellite Familial hypocalciuric hypercalcemia [RCV001957266] Chr3:122284823..122284825 [GRCh38]
Chr3:122003670..122003672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001867265]|Nephrolithiasis/nephrocalcinosis [RCV004039567] Chr3:122285154 [GRCh38]
Chr3:122004001 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1793G>A (p.Cys598Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002010531] Chr3:122283747 [GRCh38]
Chr3:122002594 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.816T>A (p.Ser272Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002046995] Chr3:122261851 [GRCh38]
Chr3:121980698 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2744G>C (p.Ser915Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001955825] Chr3:122284698 [GRCh38]
Chr3:122003545 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.782A>C (p.Asn261Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002020213]|Nephrolithiasis/nephrocalcinosis [RCV004046039] Chr3:122261817 [GRCh38]
Chr3:121980664 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2563A>C (p.Asn855His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001944845]|Nephrolithiasis/nephrocalcinosis [RCV004040369] Chr3:122284517 [GRCh38]
Chr3:122003364 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.986_994del (p.Gly329_Arg331del) deletion Familial hypocalciuric hypercalcemia [RCV001902123] Chr3:122262020..122262028 [GRCh38]
Chr3:121980867..121980875 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs) deletion Familial hypocalciuric hypercalcemia [RCV001885869] Chr3:122275988..122275991 [GRCh38]
Chr3:121994835..121994838 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.220A>G (p.Met74Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001980365]|not specified [RCV004782848] Chr3:122257115 [GRCh38]
Chr3:121975962 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2857C>G (p.Gln953Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002000359]|Nephrolithiasis/nephrocalcinosis [RCV004042426] Chr3:122284811 [GRCh38]
Chr3:122003658 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.256G>T (p.Ala86Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001944309] Chr3:122257151 [GRCh38]
Chr3:121975998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002028589] Chr3:122284965 [GRCh38]
Chr3:122003812 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2686C>G (p.Arg896Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002038613] Chr3:122284640 [GRCh38]
Chr3:122003487 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_000388.4(CASR):c.1105C>T (p.Pro369Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001942446]|Nephrolithiasis/nephrocalcinosis [RCV004039890] Chr3:122262140 [GRCh38]
Chr3:121980987 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001942861] Chr3:122284572 [GRCh38]
Chr3:122003419 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002001352] Chr3:122282203 [GRCh38]
Chr3:122001050 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.496A>C (p.Ser166Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001998427] Chr3:122261531 [GRCh38]
Chr3:121980378 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-6C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001993064] Chr3:122282107 [GRCh38]
Chr3:122000954 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.3089C>G (p.Thr1030Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001958296] Chr3:122285043 [GRCh38]
Chr3:122003890 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1925T>C (p.Ile642Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001990470] Chr3:122283879 [GRCh38]
Chr3:122002726 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.689C>T (p.Ala230Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001940993] Chr3:122261724 [GRCh38]
Chr3:121980571 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001963540] Chr3:122283687 [GRCh38]
Chr3:122002534 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001906795] Chr3:122282183 [GRCh38]
Chr3:122001030 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.357_358del (p.Lys119fs) deletion Familial hypocalciuric hypercalcemia [RCV001941522] Chr3:122257250..122257251 [GRCh38]
Chr3:121976097..121976098 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1156A>C (p.Asn386His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001998447] Chr3:122262191 [GRCh38]
Chr3:121981038 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2417T>G (p.Phe806Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001943028] Chr3:122284371 [GRCh38]
Chr3:122003218 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001952881]|Nephrolithiasis/nephrocalcinosis [RCV004043170] Chr3:122283860 [GRCh38]
Chr3:122002707 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1952C>T (p.Ser651Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002014953] Chr3:122283906 [GRCh38]
Chr3:122002753 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1207A>C (p.Ser403Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001935134] Chr3:122262242 [GRCh38]
Chr3:121981089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1759dup (p.Asp587fs) duplication Familial hypocalciuric hypercalcemia [RCV001900365] Chr3:122283712..122283713 [GRCh38]
Chr3:122002559..122002560 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1796T>C (p.Ile599Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001902534] Chr3:122283750 [GRCh38]
Chr3:122002597 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2068C>T (p.Leu690Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001921228] Chr3:122284022 [GRCh38]
Chr3:122002869 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3086A>C (p.Glu1029Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001951809] Chr3:122285040 [GRCh38]
Chr3:122003887 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2957C>A (p.Ala986Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001867430] Chr3:122284911 [GRCh38]
Chr3:122003758 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001934037] Chr3:122284583 [GRCh38]
Chr3:122003430 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-19T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001955805]|not provided [RCV004999563] Chr3:122261509 [GRCh38]
Chr3:121980356 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1592G>A (p.Ser531Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001876454] Chr3:122276026 [GRCh38]
Chr3:121994873 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1209T>G (p.Ser403Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001954519] Chr3:122262244 [GRCh38]
Chr3:121981091 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+6C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001935125] Chr3:122257393 [GRCh38]
Chr3:121976240 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+3A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001880613] Chr3:122276045 [GRCh38]
Chr3:121994892 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1698G>A (p.Val566=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001977475] Chr3:122282202 [GRCh38]
Chr3:122001049 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.754A>G (p.Ile252Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001902628] Chr3:122261789 [GRCh38]
Chr3:121980636 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2446A>G (p.Ile816Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002471208]|Familial hypocalciuric hypercalcemia [RCV001978102]|not provided [RCV004999584] Chr3:122284400 [GRCh38]
Chr3:122003247 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1126G>A (p.Gly376Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001897101]|Nephrolithiasis/nephrocalcinosis [RCV004042559] Chr3:122262161 [GRCh38]
Chr3:121981008 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.749A>G (p.Glu250Gly) single nucleotide variant CASR-related disorder [RCV004554879]|Familial hypocalciuric hypercalcemia 1 [RCV005023465]|Familial hypocalciuric hypercalcemia [RCV001957261] Chr3:122261784 [GRCh38]
Chr3:121980631 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002497845]|Familial hypocalciuric hypercalcemia [RCV001992847]|Nephrolithiasis/nephrocalcinosis [RCV004043773] Chr3:122284640 [GRCh38]
Chr3:122003487 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001973452] Chr3:122257188 [GRCh38]
Chr3:121976035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2680G>T (p.Val894Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001991780]|Nephrolithiasis/nephrocalcinosis [RCV004045492] Chr3:122284634 [GRCh38]
Chr3:122003481 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.859A>C (p.Asn287His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001902239] Chr3:122261894 [GRCh38]
Chr3:121980741 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001995296]|Nephrolithiasis/nephrocalcinosis [RCV004042145] Chr3:122276010 [GRCh38]
Chr3:121994857 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002027589] Chr3:122282207 [GRCh38]
Chr3:122001054 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2506G>C (p.Val836Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002027596] Chr3:122284460 [GRCh38]
Chr3:122003307 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186-2A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001931897] Chr3:122257079 [GRCh38]
Chr3:121975926 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2830C>A (p.Gln944Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001937302] Chr3:122284784 [GRCh38]
Chr3:122003631 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2570T>G (p.Ile857Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001930520] Chr3:122284524 [GRCh38]
Chr3:122003371 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001901181]|Nephrolithiasis/nephrocalcinosis [RCV004041562] Chr3:122262254 [GRCh38]
Chr3:121981101 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2278A>G (p.Ile760Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002015931] Chr3:122284232 [GRCh38]
Chr3:122003079 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002030462]|Nephrolithiasis/nephrocalcinosis [RCV004043281] Chr3:122283941 [GRCh38]
Chr3:122002788 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2842_2880dup (p.Leu948_Pro960dup) duplication Familial hypocalciuric hypercalcemia [RCV001957412] Chr3:122284783..122284784 [GRCh38]
Chr3:122003630..122003631 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.367T>A (p.Leu123Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005032112]|Familial hypocalciuric hypercalcemia [RCV002016645]|Nephrolithiasis/nephrocalcinosis [RCV004990573] Chr3:122257262 [GRCh38]
Chr3:121976109 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025564]|Familial hypocalciuric hypercalcemia [RCV001976111] Chr3:122284449 [GRCh38]
Chr3:122003296 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001994850] Chr3:122275976 [GRCh38]
Chr3:121994823 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001989418]|not provided [RCV003320262] Chr3:122284730 [GRCh38]
Chr3:122003577 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2009G>T (p.Gly670Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001878455] Chr3:122283963 [GRCh38]
Chr3:122002810 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.992G>C (p.Arg331Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001923823] Chr3:122262027 [GRCh38]
Chr3:121980874 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001939580]|Nephrolithiasis/nephrocalcinosis [RCV004044367] Chr3:122257279 [GRCh38]
Chr3:121976126 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.455C>T (p.Ala152Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002030646]|Nephrolithiasis/nephrocalcinosis [RCV004045197] Chr3:122257350 [GRCh38]
Chr3:121976197 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1166C>G (p.Thr389Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001996395]|Nephrolithiasis/nephrocalcinosis [RCV004045913] Chr3:122262201 [GRCh38]
Chr3:121981048 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1420G>A (p.Gly474Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002017597] Chr3:122275854 [GRCh38]
Chr3:121994701 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025650]|Familial hypocalciuric hypercalcemia [RCV002018187]|Nephrolithiasis/nephrocalcinosis [RCV004046748] Chr3:122262150 [GRCh38]
Chr3:121980997 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2576T>A (p.Ile859Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002019995] Chr3:122284530 [GRCh38]
Chr3:122003377 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1646G>A (p.Gly549Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002034930] Chr3:122282150 [GRCh38]
Chr3:122000997 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001958546]|Nephrolithiasis/nephrocalcinosis [RCV004043781] Chr3:122282146 [GRCh38]
Chr3:122000993 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.437G>A (p.Gly146Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001980045] Chr3:122257332 [GRCh38]
Chr3:121976179 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3112G>T (p.Gly1038Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001877627] Chr3:122285066 [GRCh38]
Chr3:122003913 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2296C>A (p.His766Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001917983]|Nephrolithiasis/nephrocalcinosis [RCV004041724] Chr3:122284250 [GRCh38]
Chr3:122003097 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1936A>G (p.Thr646Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001998276] Chr3:122283890 [GRCh38]
Chr3:122002737 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2877del (p.Gln959fs) deletion Familial hypocalciuric hypercalcemia [RCV001885807] Chr3:122284831 [GRCh38]
Chr3:122003678 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.840C>T (p.Ile280=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002019510]|Nephrolithiasis/nephrocalcinosis [RCV004045534] Chr3:122261875 [GRCh38]
Chr3:121980722 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3215C>T (p.Thr1072Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002027201] Chr3:122285169 [GRCh38]
Chr3:122004016 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1084G>A (p.Glu362Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001931446]|Nephrolithiasis/nephrocalcinosis [RCV004041942] Chr3:122262119 [GRCh38]
Chr3:121980966 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2005A>G (p.Ile669Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001935437]|Nephrolithiasis/nephrocalcinosis [RCV004042709] Chr3:122283959 [GRCh38]
Chr3:122002806 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001934042]|Nephrolithiasis/nephrocalcinosis [RCV004042996] Chr3:122282172 [GRCh38]
Chr3:122001019 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.224T>C (p.Ile75Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001900788] Chr3:122257119 [GRCh38]
Chr3:121975966 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001992772]|not specified [RCV002246610] Chr3:122284107 [GRCh38]
Chr3:122002954 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1893G>A (p.Leu631=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001977082]|Nephrolithiasis/nephrocalcinosis [RCV004045271] Chr3:122283847 [GRCh38]
Chr3:122002694 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.1903A>G (p.Ile635Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001996610] Chr3:122283857 [GRCh38]
Chr3:122002704 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2255G>C (p.Arg752Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001954750] Chr3:122284209 [GRCh38]
Chr3:122003056 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-12G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002013385] Chr3:122261516 [GRCh38]
Chr3:121980363 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001992858]|not specified [RCV005238099] Chr3:122262336 [GRCh38]
Chr3:121981183 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3124C>T (p.Pro1042Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002016599] Chr3:122285078 [GRCh38]
Chr3:122003925 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1180C>T (p.Leu394Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002034450] Chr3:122262215 [GRCh38]
Chr3:121981062 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2759G>A (p.Ser920Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001981966] Chr3:122284713 [GRCh38]
Chr3:122003560 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3085G>A (p.Glu1029Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002027467]|Nephrolithiasis/nephrocalcinosis [RCV004046893] Chr3:122285039 [GRCh38]
Chr3:122003886 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) indel Familial hypocalciuric hypercalcemia [RCV001919665] Chr3:122284984..122284985 [GRCh38]
Chr3:122003831..122003832 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.802G>A (p.Val268Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001904154]|Nephrolithiasis/nephrocalcinosis [RCV004039650] Chr3:122261837 [GRCh38]
Chr3:121980684 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+5G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001996043]|not provided [RCV003482392] Chr3:122276047 [GRCh38]
Chr3:121994894 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2833C>A (p.Gln945Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001930326] Chr3:122284787 [GRCh38]
Chr3:122003634 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001899781]|not provided [RCV004774483] Chr3:122284577 [GRCh38]
Chr3:122003424 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) single nucleotide variant CASR-related disorder [RCV004554882]|Familial hypocalciuric hypercalcemia [RCV001977237]|not specified [RCV004699604] Chr3:122262323 [GRCh38]
Chr3:121981170 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1363G>C (p.Val455Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001958147] Chr3:122262398 [GRCh38]
Chr3:121981245 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.74G>T (p.Arg25Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001884705]|Nephrolithiasis/nephrocalcinosis [RCV004041512] Chr3:122254263 [GRCh38]
Chr3:121973110 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.549C>G (p.Phe183Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001882944] Chr3:122261584 [GRCh38]
Chr3:121980431 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1537G>A (p.Val513Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002033999]|Nephrolithiasis/nephrocalcinosis [RCV004044751] Chr3:122275971 [GRCh38]
Chr3:121994818 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1868G>C (p.Gly623Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001906712] Chr3:122283822 [GRCh38]
Chr3:122002669 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2696C>G (p.Ser899Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001999118] Chr3:122284650 [GRCh38]
Chr3:122003497 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023397]|Familial hypocalciuric hypercalcemia [RCV001920069]|not specified [RCV002282638] Chr3:122257100 [GRCh38]
Chr3:121975947 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1495G>A (p.Glu499Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002013963] Chr3:122275929 [GRCh38]
Chr3:121994776 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2417T>A (p.Phe806Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001920144] Chr3:122284371 [GRCh38]
Chr3:122003218 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.167A>T (p.Glu56Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001935908] Chr3:122254356 [GRCh38]
Chr3:121973203 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2015C>G (p.Pro672Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002029521] Chr3:122283969 [GRCh38]
Chr3:122002816 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1377+4C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001901455]|Nephrolithiasis/nephrocalcinosis [RCV004996089] Chr3:122262416 [GRCh38]
Chr3:121981263 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.604G>A (p.Glu202Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001922090]|Nephrolithiasis/nephrocalcinosis [RCV004041241] Chr3:122261639 [GRCh38]
Chr3:121980486 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002492330]|Familial hypocalciuric hypercalcemia [RCV002047752] Chr3:122275859 [GRCh38]
Chr3:121994706 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2383C>G (p.Arg795Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001881951] Chr3:122284337 [GRCh38]
Chr3:122003184 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.532A>T (p.Asn178Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002019198] Chr3:122261567 [GRCh38]
Chr3:121980414 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002034971] Chr3:122261534 [GRCh38]
Chr3:121980381 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1364T>C (p.Val455Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001939174]|Nephrolithiasis/nephrocalcinosis [RCV004041919] Chr3:122262399 [GRCh38]
Chr3:121981246 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1181T>A (p.Leu394His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001938827] Chr3:122262216 [GRCh38]
Chr3:121981063 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001998641]|not provided [RCV002473345]|not specified [RCV002236386] Chr3:122257267 [GRCh38]
Chr3:121976114 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1802del (p.Lys601fs) deletion Familial hypocalciuric hypercalcemia [RCV001924398] Chr3:122283755 [GRCh38]
Chr3:122002602 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2021A>T (p.Asp674Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001939015] Chr3:122283975 [GRCh38]
Chr3:122002822 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001905746]|Nephrolithiasis/nephrocalcinosis [RCV004041383] Chr3:122284100 [GRCh38]
Chr3:122002947 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2182G>A (p.Val728Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001960438] Chr3:122284136 [GRCh38]
Chr3:122002983 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2497G>C (p.Val833Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001998907] Chr3:122284451 [GRCh38]
Chr3:122003298 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.718A>G (p.Ser240Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001940372]|Nephrolithiasis/nephrocalcinosis [RCV004043609] Chr3:122261753 [GRCh38]
Chr3:121980600 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2996A>T (p.Glu999Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001898050] Chr3:122284950 [GRCh38]
Chr3:122003797 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.175G>A (p.Glu59Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001903693] Chr3:122254364 [GRCh38]
Chr3:121973211 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1852del (p.Leu618fs) deletion Familial hypocalciuric hypercalcemia [RCV001997530] Chr3:122283804 [GRCh38]
Chr3:122002651 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001988969] Chr3:122283730 [GRCh38]
Chr3:122002577 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001932275]|Nephrolithiasis/nephrocalcinosis [RCV004039801] Chr3:122285151 [GRCh38]
Chr3:122003998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3180G>C (p.Gln1060His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002015219] Chr3:122285134 [GRCh38]
Chr3:122003981 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.883G>A (p.Ala295Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001971936] Chr3:122261918 [GRCh38]
Chr3:121980765 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001952135]|Nephrolithiasis/nephrocalcinosis [RCV004043621] Chr3:122284797 [GRCh38]
Chr3:122003644 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001881463]|Nephrolithiasis/nephrocalcinosis [RCV004041390] Chr3:122284364 [GRCh38]
Chr3:122003211 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.528C>A (p.Asn176Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001877570] Chr3:122261563 [GRCh38]
Chr3:121980410 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1564T>G (p.Phe522Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001955770] Chr3:122275998 [GRCh38]
Chr3:121994845 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.503C>A (p.Ala168Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001989416] Chr3:122261538 [GRCh38]
Chr3:121980385 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002047475] Chr3:122262369 [GRCh38]
Chr3:121981216 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1377+1G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001976004] Chr3:122262413 [GRCh38]
Chr3:121981260 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1377G>A (p.Gln459=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001992190] Chr3:122262412 [GRCh38]
Chr3:121981259 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609G>A (p.Val537Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002031990]|Nephrolithiasis/nephrocalcinosis [RCV004044862] Chr3:122282113 [GRCh38]
Chr3:122000960 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.273G>C (p.Leu91Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002048465] Chr3:122257168 [GRCh38]
Chr3:121976015 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.291A>G (p.Ile97Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001919094] Chr3:122257186 [GRCh38]
Chr3:121976033 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001880664]|Nephrolithiasis/nephrocalcinosis [RCV004040581] Chr3:122275947 [GRCh38]
Chr3:121994794 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.614G>C (p.Arg205Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002031162]|Nephrolithiasis/nephrocalcinosis [RCV004044737] Chr3:122261649 [GRCh38]
Chr3:121980496 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg) single nucleotide variant Autosomal dominant hypocalcemia [RCV004690232]|Familial hypocalciuric hypercalcemia [RCV002026824] Chr3:122283962 [GRCh38]
Chr3:122002809 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1320G>A (p.Gly440=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002166679]|Nephrolithiasis/nephrocalcinosis [RCV004047053] Chr3:122262355 [GRCh38]
Chr3:121981202 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3012C>T (p.Ser1004=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002125404] Chr3:122284966 [GRCh38]
Chr3:122003813 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2664G>A (p.Thr888=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002168809]|Nephrolithiasis/nephrocalcinosis [RCV004603173] Chr3:122284618 [GRCh38]
Chr3:122003465 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.493-17T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002085837] Chr3:122261511 [GRCh38]
Chr3:121980358 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+13T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002207555] Chr3:122257400 [GRCh38]
Chr3:121976247 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1491C>A (p.Ser497=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002128896] Chr3:122275925 [GRCh38]
Chr3:121994772 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.882G>A (p.Leu294=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002130511] Chr3:122261917 [GRCh38]
Chr3:121980764 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.456A>G (p.Ala152=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002169419]|Nephrolithiasis/nephrocalcinosis [RCV004990594] Chr3:122257351 [GRCh38]
Chr3:121976198 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1017C>A (p.Pro339=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002145030] Chr3:122262052 [GRCh38]
Chr3:121980899 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2487T>C (p.Tyr829=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002208540]|Nephrolithiasis/nephrocalcinosis [RCV004990745] Chr3:122284441 [GRCh38]
Chr3:122003288 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-20C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002088018] Chr3:122275792 [GRCh38]
Chr3:121994639 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1311C>T (p.Cys437=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002149262] Chr3:122262346 [GRCh38]
Chr3:121981193 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1733-10C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002130150] Chr3:122283677 [GRCh38]
Chr3:122002524 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1683C>T (p.Cys561=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002187769] Chr3:122282187 [GRCh38]
Chr3:122001034 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1032C>T (p.His344=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002104480] Chr3:122262067 [GRCh38]
Chr3:121980914 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2628C>T (p.Thr876=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002073814]|Nephrolithiasis/nephrocalcinosis [RCV004045696] Chr3:122284582 [GRCh38]
Chr3:122003429 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.276G>T (p.Thr92=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002166069]|Nephrolithiasis/nephrocalcinosis [RCV004990676] Chr3:122257171 [GRCh38]
Chr3:121976018 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2814A>C (p.Leu938=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002128882] Chr3:122284768 [GRCh38]
Chr3:122003615 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1317T>C (p.Pro439=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002071305]|Nephrolithiasis/nephrocalcinosis [RCV004044913] Chr3:122262352 [GRCh38]
Chr3:121981199 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2156G>A (p.Trp719Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002244301] Chr3:122284110 [GRCh38]
Chr3:122002957 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2384G>T (p.Arg795Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002225147] Chr3:122284338 [GRCh38]
Chr3:122003185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.900C>G (p.Ala300=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002088128]|Nephrolithiasis/nephrocalcinosis [RCV004045729] Chr3:122261935 [GRCh38]
Chr3:121980782 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3210T>A (p.Thr1070=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002126651] Chr3:122285164 [GRCh38]
Chr3:122004011 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.942T>C (p.Val314=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002167773]|Nephrolithiasis/nephrocalcinosis [RCV004045032] Chr3:122261977 [GRCh38]
Chr3:121980824 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-17CTT[2] microsatellite Familial hypocalciuric hypercalcemia [RCV002185574] Chr3:122257064..122257066 [GRCh38]
Chr3:121975911..121975913 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1672dup (p.Glu558fs) duplication Familial hypocalciuric hypercalcemia 1 [RCV002225161] Chr3:122282171..122282172 [GRCh38]
Chr3:122001018..122001019 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2844G>C (p.Leu948=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002189026] Chr3:122284798 [GRCh38]
Chr3:122003645 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2976T>C (p.Ser992=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002148638] Chr3:122284930 [GRCh38]
Chr3:122003777 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2361C>T (p.Cys787=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002097494]|Nephrolithiasis/nephrocalcinosis [RCV004045775] Chr3:122284315 [GRCh38]
Chr3:122003162 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+19_492+20delinsAA indel Familial hypocalciuric hypercalcemia [RCV002207711] Chr3:122257406..122257407 [GRCh38]
Chr3:121976253..121976254 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.474G>T (p.Gly158=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002117252] Chr3:122257369 [GRCh38]
Chr3:121976216 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3201A>G (p.Gly1067=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002151164]|Nephrolithiasis/nephrocalcinosis [RCV004046998] Chr3:122285155 [GRCh38]
Chr3:122004002 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2004C>T (p.Phe668=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002079813] Chr3:122283958 [GRCh38]
Chr3:122002805 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-11C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002097596] Chr3:122275801 [GRCh38]
Chr3:121994648 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-19C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002170557] Chr3:122257062 [GRCh38]
Chr3:121975909 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1002G>A (p.Leu334=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002077060] Chr3:122262037 [GRCh38]
Chr3:121980884 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1164G>C (p.Ser388=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002193988]|Nephrolithiasis/nephrocalcinosis [RCV004603175] Chr3:122262199 [GRCh38]
Chr3:121981046 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+18_492+19delinsCA indel Familial hypocalciuric hypercalcemia [RCV002116840] Chr3:122257405..122257406 [GRCh38]
Chr3:121976252..121976253 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2379G>A (p.Lys793=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002197349] Chr3:122284333 [GRCh38]
Chr3:122003180 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.621C>T (p.Asn207=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002194766]|Nephrolithiasis/nephrocalcinosis [RCV004990608] Chr3:122261656 [GRCh38]
Chr3:121980503 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.465T>C (p.Asn155=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002126943] Chr3:122257360 [GRCh38]
Chr3:121976207 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2376C>T (p.Phe792=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002114560]|Nephrolithiasis/nephrocalcinosis [RCV004046525] Chr3:122284330 [GRCh38]
Chr3:122003177 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1733-12G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002097705] Chr3:122283675 [GRCh38]
Chr3:122002522 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3204C>G (p.Gly1068=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002112857]|Nephrolithiasis/nephrocalcinosis [RCV004045879] Chr3:122285158 [GRCh38]
Chr3:122004005 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.522C>G (p.Leu174=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002149452] Chr3:122261557 [GRCh38]
Chr3:121980404 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+15T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002116986]|not provided [RCV005232842] Chr3:122262427 [GRCh38]
Chr3:121981274 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2904T>C (p.Phe968=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002172854]|Nephrolithiasis/nephrocalcinosis [RCV004045028] Chr3:122284858 [GRCh38]
Chr3:122003705 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1392A>G (p.Leu464=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002080662] Chr3:122275826 [GRCh38]
Chr3:121994673 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1545C>G (p.Ala515=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002174738] Chr3:122275979 [GRCh38]
Chr3:121994826 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2664G>T (p.Thr888=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002133072] Chr3:122284618 [GRCh38]
Chr3:122003465 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.87G>A (p.Lys29=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002104427] Chr3:122254276 [GRCh38]
Chr3:121973123 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3042C>G (p.Leu1014=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002192934] Chr3:122284996 [GRCh38]
Chr3:122003843 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2637C>T (p.His879=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002095552] Chr3:122284591 [GRCh38]
Chr3:122003438 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-16C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002096078] Chr3:122275796 [GRCh38]
Chr3:121994643 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2526G>A (p.Leu842=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002131354]|Nephrolithiasis/nephrocalcinosis [RCV005308730] Chr3:122284480 [GRCh38]
Chr3:122003327 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1596G>A (p.Gly532=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002131590]|Nephrolithiasis/nephrocalcinosis [RCV004046597] Chr3:122276030 [GRCh38]
Chr3:121994877 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1251C>T (p.Ser417=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002195716] Chr3:122262286 [GRCh38]
Chr3:121981133 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-14C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002132531] Chr3:122257067 [GRCh38]
Chr3:121975914 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1965C>G (p.Leu655=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002133484]|Nephrolithiasis/nephrocalcinosis [RCV004046569] Chr3:122283919 [GRCh38]
Chr3:122002766 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.594A>G (p.Ala198=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002172451] Chr3:122261629 [GRCh38]
Chr3:121980476 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+14T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002075636] Chr3:122262426 [GRCh38]
Chr3:121981273 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.486T>C (p.Ile162=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002166919]|Nephrolithiasis/nephrocalcinosis [RCV004044972] Chr3:122257381 [GRCh38]
Chr3:121976228 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1174C>A (p.Arg392=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002211967] Chr3:122262209 [GRCh38]
Chr3:121981056 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1860C>G (p.Ala620=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002114977] Chr3:122283814 [GRCh38]
Chr3:122002661 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1609-13G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002094514] Chr3:122282100 [GRCh38]
Chr3:122000947 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2421C>T (p.Ile807=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002158985]|Nephrolithiasis/nephrocalcinosis [RCV004047051] Chr3:122284375 [GRCh38]
Chr3:122003222 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+11C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002159443] Chr3:122282247 [GRCh38]
Chr3:122001094 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+19_492+20delinsAG indel Familial hypocalciuric hypercalcemia [RCV002218498] Chr3:122257406..122257407 [GRCh38]
Chr3:121976253..121976254 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2496T>C (p.Phe832=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002159828]|Nephrolithiasis/nephrocalcinosis [RCV004044978] Chr3:122284450 [GRCh38]
Chr3:122003297 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+15C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002083603] Chr3:122254389 [GRCh38]
Chr3:121973236 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-8T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002198140] Chr3:122257073 [GRCh38]
Chr3:121975920 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.726C>T (p.Leu242=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002177293] Chr3:122261761 [GRCh38]
Chr3:121980608 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1733-13G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002137817] Chr3:122283674 [GRCh38]
Chr3:122002521 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1170C>T (p.Ala390=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002121908] Chr3:122262205 [GRCh38]
Chr3:121981052 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1962C>T (p.Leu654=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002102505]|Nephrolithiasis/nephrocalcinosis [RCV004045745] Chr3:122283916 [GRCh38]
Chr3:122002763 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.42C>T (p.Thr14=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002200548]|Nephrolithiasis/nephrocalcinosis [RCV004047098] Chr3:122254231 [GRCh38]
Chr3:121973078 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.492+19_492+20delinsAT indel Familial hypocalciuric hypercalcemia [RCV002182082] Chr3:122257406..122257407 [GRCh38]
Chr3:121976253..121976254 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.855G>A (p.Arg285=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002101006]|Nephrolithiasis/nephrocalcinosis [RCV004045845] Chr3:122261890 [GRCh38]
Chr3:121980737 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.267C>T (p.Pro89=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002158897] Chr3:122257162 [GRCh38]
Chr3:121976009 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+12C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002101459] Chr3:122282248 [GRCh38]
Chr3:122001095 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1143C>A (p.Gly381=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002180648] Chr3:122262178 [GRCh38]
Chr3:121981025 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-10T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002164678] Chr3:122257071 [GRCh38]
Chr3:121975918 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-16T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002175502] Chr3:122257065 [GRCh38]
Chr3:121975912 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1848C>A (p.Leu616=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002163357]|Nephrolithiasis/nephrocalcinosis [RCV004047011] Chr3:122283802 [GRCh38]
Chr3:122002649 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002272589]|Neonatal severe primary hyperparathyroidism [RCV003225225] Chr3:122257085 [GRCh38]
Chr3:121975932 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.459G>C (p.Val153=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002162004]|Nephrolithiasis/nephrocalcinosis [RCV004044980] Chr3:122257354 [GRCh38]
Chr3:121976201 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+17A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002198504] Chr3:122254391 [GRCh38]
Chr3:121973238 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1767C>T (p.Phe589=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002219241]|Nephrolithiasis/nephrocalcinosis [RCV004045668] Chr3:122283721 [GRCh38]
Chr3:122002568 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.819C>T (p.Gly273=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002118576] Chr3:122261854 [GRCh38]
Chr3:121980701 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.426G>C (p.Val142=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002198837] Chr3:122257321 [GRCh38]
Chr3:121976168 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2265G>A (p.Glu755=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002142295] Chr3:122284219 [GRCh38]
Chr3:122003066 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1254C>T (p.Tyr418=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002140406]|Nephrolithiasis/nephrocalcinosis [RCV004046625] Chr3:122262289 [GRCh38]
Chr3:121981136 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.493-12G>T single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002500411]|Familial hypocalciuric hypercalcemia [RCV002184125] Chr3:122261516 [GRCh38]
Chr3:121980363 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2604C>G (p.Thr868=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002155673] Chr3:122284558 [GRCh38]
Chr3:122003405 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2163C>T (p.Leu721=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002162823]|Nephrolithiasis/nephrocalcinosis [RCV004046366] Chr3:122284117 [GRCh38]
Chr3:122002964 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.765G>A (p.Val255=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002135448] Chr3:122261800 [GRCh38]
Chr3:121980647 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.66A>G (p.Pro22=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002155942] Chr3:122254255 [GRCh38]
Chr3:121973102 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2358C>T (p.Ile786=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002100264]|Nephrolithiasis/nephrocalcinosis [RCV004990637] Chr3:122284312 [GRCh38]
Chr3:122003159 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2727C>T (p.Thr909=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002198462]|Nephrolithiasis/nephrocalcinosis [RCV004047140] Chr3:122284681 [GRCh38]
Chr3:122003528 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2979G>A (p.Thr993=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002141152]|Nephrolithiasis/nephrocalcinosis [RCV004047002] Chr3:122284933 [GRCh38]
Chr3:122003780 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2583C>T (p.Leu861=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002181290] Chr3:122284537 [GRCh38]
Chr3:122003384 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.732C>T (p.Ser244=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002181369]|Nephrolithiasis/nephrocalcinosis [RCV004047080] Chr3:122261767 [GRCh38]
Chr3:121980614 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2511G>A (p.Glu837=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002162066]|Nephrolithiasis/nephrocalcinosis [RCV004044983] Chr3:122284465 [GRCh38]
Chr3:122003312 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.795A>G (p.Lys265=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002137202] Chr3:122261830 [GRCh38]
Chr3:121980677 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2688C>A (p.Arg896=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002200070] Chr3:122284642 [GRCh38]
Chr3:122003489 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.493-11G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002179474] Chr3:122261517 [GRCh38]
Chr3:121980364 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1312T>C (p.Leu438=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002119714] Chr3:122262347 [GRCh38]
Chr3:121981194 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2167C>T (p.Leu723=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002216959]|Nephrolithiasis/nephrocalcinosis [RCV004045637] Chr3:122284121 [GRCh38]
Chr3:122002968 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1080C>G (p.Leu360=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002120029]|Nephrolithiasis/nephrocalcinosis [RCV004046298] Chr3:122262115 [GRCh38]
Chr3:121980962 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2736C>T (p.Ser912=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002123604] Chr3:122284690 [GRCh38]
Chr3:122003537 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.75A>C (p.Arg25=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002175827]|Nephrolithiasis/nephrocalcinosis [RCV004047067] Chr3:122254264 [GRCh38]
Chr3:121973111 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2565C>T (p.Asn855=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002198160]|Nephrolithiasis/nephrocalcinosis [RCV004045586] Chr3:122284519 [GRCh38]
Chr3:122003366 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.204T>C (p.Phe68=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002217228]|Nephrolithiasis/nephrocalcinosis [RCV004045656] Chr3:122257099 [GRCh38]
Chr3:121975946 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.729C>T (p.Ile243=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002204059]|Nephrolithiasis/nephrocalcinosis [RCV004047154] Chr3:122261764 [GRCh38]
Chr3:121980611 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+17T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002141220]|not specified [RCV003403720] Chr3:122282253 [GRCh38]
Chr3:122001100 [GRCh37]
Chr3:3q21.1		 benign|likely benign
NM_000388.4(CASR):c.633A>G (p.Thr211=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002123547]|Nephrolithiasis/nephrocalcinosis [RCV004046521] Chr3:122261668 [GRCh38]
Chr3:121980515 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.858C>T (p.Arg286=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002138183] Chr3:122261893 [GRCh38]
Chr3:121980740 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3114A>G (p.Gly1038=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002155142] Chr3:122285068 [GRCh38]
Chr3:122003915 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+15C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002219677] Chr3:122254389 [GRCh38]
Chr3:121973236 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1843G>T (p.Ala615Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003115190] Chr3:122283797 [GRCh38]
Chr3:122002644 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.524G>A (p.Ser175Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003112088] Chr3:122261559 [GRCh38]
Chr3:121980406 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.11:g.(?_121994639)_(122060414_?)del deletion Familial hypocalciuric hypercalcemia [RCV003111140] Chr3:121994639..122060414 [GRCh37]
Chr3:3q21.1		 pathogenic
NC_000003.11:g.(?_121973037)_(121973231_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111141] Chr3:121973037..121973231 [GRCh37]
Chr3:3q21.1		 uncertain significance
NC_000003.11:g.(?_121489192)_(125313644_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111142] Chr3:121489192..125313644 [GRCh37]
Chr3:3q13.33-21.2		 uncertain significance
NM_000388.4(CASR):c.3135G>A (p.Glu1045=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003121456]|Nephrolithiasis/nephrocalcinosis [RCV004244618] Chr3:122285089 [GRCh38]
Chr3:122003936 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs) deletion Familial hypocalciuric hypercalcemia [RCV003123385] Chr3:122282177..122282181 [GRCh38]
Chr3:122001024..122001028 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.820C>T (p.Pro274Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003118925]|Nephrolithiasis/nephrocalcinosis [RCV004245938] Chr3:122261855 [GRCh38]
Chr3:121980702 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2938del (p.Asp980fs) deletion Familial hypocalciuric hypercalcemia 1 [RCV004797247] Chr3:122284892 [GRCh38]
Chr3:122003739 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.139A>G (p.Lys47Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002249328] Chr3:122254328 [GRCh38]
Chr3:121973175 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1799C>A (p.Ala600Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257196]|Nephrolithiasis/nephrocalcinosis [RCV004047401] Chr3:122283753 [GRCh38]
Chr3:122002600 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003096076]|Nephrolithiasis/nephrocalcinosis [RCV004047467]|not specified [RCV002268753] Chr3:122275840 [GRCh38]
Chr3:121994687 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.903del (p.Ser302fs) deletion not provided [RCV002268868] Chr3:122261938 [GRCh38]
Chr3:121980785 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2828A>T (p.Gln943Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062341] Chr3:122284782 [GRCh38]
Chr3:122003629 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2835G>A (p.Gln945=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062366] Chr3:122284789 [GRCh38]
Chr3:122003636 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1283C>A (p.Ala428Asp) single nucleotide variant not specified [RCV002268752] Chr3:122262318 [GRCh38]
Chr3:121981165 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.773T>C (p.Val258Ala) single nucleotide variant not specified [RCV002268867] Chr3:122261808 [GRCh38]
Chr3:121980655 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1989C>T (p.Ser663=) single nucleotide variant not specified [RCV002268754] Chr3:122283943 [GRCh38]
Chr3:122002790 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1218C>G (p.Thr406=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053389] Chr3:122262253 [GRCh38]
Chr3:121981100 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2848C>T (p.Leu950Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062408] Chr3:122284802 [GRCh38]
Chr3:122003649 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.282A>G (p.Gly94=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102763]|Nephrolithiasis/nephrocalcinosis [RCV004062353] Chr3:122257177 [GRCh38]
Chr3:121976024 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.691G>A (p.Glu231Lys) single nucleotide variant not specified [RCV002268866] Chr3:122261726 [GRCh38]
Chr3:121980573 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV002272710] Chr3:122284050 [GRCh38]
Chr3:122002897 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.501T>A (p.Tyr167Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002267576] Chr3:122261536 [GRCh38]
Chr3:121980383 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2383del (p.Arg795fs) deletion not provided [RCV002268755] Chr3:122284335 [GRCh38]
Chr3:122003182 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2065G>A (p.Val689Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025749]|Familial hypocalciuric hypercalcemia [RCV002271885]|Familial hypocalciuric hypercalcemia [RCV003101539]|not provided [RCV004999684] Chr3:122284019 [GRCh38]
Chr3:122002866 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2653_2682del (p.Ala885_Val894del) deletion not specified [RCV002268756] Chr3:122284607..122284636 [GRCh38]
Chr3:122003454..122003483 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1138A>T (p.Ser380Cys) single nucleotide variant not specified [RCV002268751] Chr3:122262173 [GRCh38]
Chr3:121981020 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2901del (p.Phe968fs) deletion not provided [RCV002268757] Chr3:122284855 [GRCh38]
Chr3:122003702 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2917G>A (p.Val973Ile) single nucleotide variant not specified [RCV002268758] Chr3:122284871 [GRCh38]
Chr3:122003718 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775394]|Nephrolithiasis/nephrocalcinosis [RCV004062397] Chr3:122284799 [GRCh38]
Chr3:122003646 [GRCh37]
Chr3:3q21.1		 uncertain significance
Single allele duplication not specified [RCV002286365] Chr3:122157406..123113479 [GRCh38]
Chr3:3q13.33-21.1		 uncertain significance
NM_000388.4(CASR):c.2991C>G (p.Ser997=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065457] Chr3:122284945 [GRCh38]
Chr3:122003792 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2822A>G (p.Gln941Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062323] Chr3:122284776 [GRCh38]
Chr3:122003623 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2823A>G (p.Gln941=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062324] Chr3:122284777 [GRCh38]
Chr3:122003624 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.338G>C (p.Ser113Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004047895] Chr3:122257233 [GRCh38]
Chr3:121976080 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.631A>G (p.Thr211Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053830] Chr3:122261666 [GRCh38]
Chr3:121980513 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2871G>A (p.Gln957=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062475] Chr3:122284825 [GRCh38]
Chr3:122003672 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1012C>T (p.His338Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775698]|Nephrolithiasis/nephrocalcinosis [RCV004049628] Chr3:122262047 [GRCh38]
Chr3:121980894 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2685C>T (p.Ser895=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063638] Chr3:122284639 [GRCh38]
Chr3:122003486 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1323A>G (p.Arg441=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058377] Chr3:122262358 [GRCh38]
Chr3:121981205 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2873A>G (p.Gln958Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062483] Chr3:122284827 [GRCh38]
Chr3:122003674 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2847C>T (p.Thr949=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062403] Chr3:122284801 [GRCh38]
Chr3:122003648 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2196C>T (p.Thr732=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061189] Chr3:122284150 [GRCh38]
Chr3:122002997 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1281T>G (p.Ile427Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057599] Chr3:122262316 [GRCh38]
Chr3:121981163 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3021G>C (p.Leu1007=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065541] Chr3:122284975 [GRCh38]
Chr3:122003822 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2234C>A (p.Thr745Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061849] Chr3:122284188 [GRCh38]
Chr3:122003035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.814A>G (p.Ser272Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103477]|Nephrolithiasis/nephrocalcinosis [RCV004055494] Chr3:122261849 [GRCh38]
Chr3:121980696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2603C>A (p.Thr868Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062904] Chr3:122284557 [GRCh38]
Chr3:122003404 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775315]|Nephrolithiasis/nephrocalcinosis [RCV004062916] Chr3:122284562 [GRCh38]
Chr3:122003409 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3015T>C (p.Asp1005=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065519] Chr3:122284969 [GRCh38]
Chr3:122003816 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3017C>T (p.Thr1006Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025829]|Nephrolithiasis/nephrocalcinosis [RCV004065523] Chr3:122284971 [GRCh38]
Chr3:122003818 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2444T>C (p.Phe815Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002297140] Chr3:122284398 [GRCh38]
Chr3:122003245 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.549C>T (p.Phe183=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003776116]|Nephrolithiasis/nephrocalcinosis [RCV004053149] Chr3:122261584 [GRCh38]
Chr3:121980431 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1334C>G (p.Thr445Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058701] Chr3:122262369 [GRCh38]
Chr3:121981216 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1335C>T (p.Thr445=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058703] Chr3:122262370 [GRCh38]
Chr3:121981217 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.958T>A (p.Phe320Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056938] Chr3:122261993 [GRCh38]
Chr3:121980840 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2028G>C (p.Thr676=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774603]|Nephrolithiasis/nephrocalcinosis [RCV004059553] Chr3:122283982 [GRCh38]
Chr3:122002829 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2616G>C (p.Val872=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062947] Chr3:122284570 [GRCh38]
Chr3:122003417 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1191G>A (p.Gly397=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003776024]|Nephrolithiasis/nephrocalcinosis [RCV004050951] Chr3:122262226 [GRCh38]
Chr3:121981073 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2882G>A (p.Arg961Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063035] Chr3:122284836 [GRCh38]
Chr3:122003683 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2889G>A (p.Lys963=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063052] Chr3:122284843 [GRCh38]
Chr3:122003690 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2031C>T (p.Cys677=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059568] Chr3:122283985 [GRCh38]
Chr3:122002832 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2825AGC[4] (p.Gln946del) microsatellite Familial hypocalciuric hypercalcemia [RCV003775390]|Nephrolithiasis/nephrocalcinosis [RCV004062370] Chr3:122284779..122284781 [GRCh38]
Chr3:122003626..122003628 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2842C>T (p.Leu948=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062391] Chr3:122284796 [GRCh38]
Chr3:122003643 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.355A>G (p.Lys119Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004049120] Chr3:122257250 [GRCh38]
Chr3:121976097 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774257]|Nephrolithiasis/nephrocalcinosis [RCV004058356] Chr3:122262353 [GRCh38]
Chr3:121981200 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774258]|Nephrolithiasis/nephrocalcinosis [RCV004058359] Chr3:122262354 [GRCh38]
Chr3:121981201 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2863C>A (p.Arg955=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062458] Chr3:122284817 [GRCh38]
Chr3:122003664 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.975G>A (p.Gly325=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103616]|Nephrolithiasis/nephrocalcinosis [RCV004057579] Chr3:122262010 [GRCh38]
Chr3:121980857 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1725T>C (p.Asp575=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060655] Chr3:122282229 [GRCh38]
Chr3:122001076 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-4C>G single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060076] Chr3:122257077 [GRCh38]
Chr3:121975924 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+42G>A single nucleotide variant not specified [RCV002466001] Chr3:122254416 [GRCh38]
Chr3:121973263 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1617C>G (p.Phe539Leu) single nucleotide variant not specified [RCV002466002] Chr3:122282121 [GRCh38]
Chr3:122000968 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1207A>G (p.Ser403Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053698] Chr3:122262242 [GRCh38]
Chr3:121981089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.205C>A (p.Arg69Ser) single nucleotide variant Neonatal severe primary hyperparathyroidism [RCV002466850] Chr3:122257100 [GRCh38]
Chr3:121975947 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1747A>G (p.Asn583Asp) single nucleotide variant not provided [RCV002467030] Chr3:122283701 [GRCh38]
Chr3:122002548 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1935C>T (p.Ala645=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774571]|Nephrolithiasis/nephrocalcinosis [RCV004060925] Chr3:122283889 [GRCh38]
Chr3:122002736 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1A>C (p.Met1Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061726] Chr3:122254190 [GRCh38]
Chr3:121973037 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2010G>A (p.Gly670=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059502] Chr3:122283964 [GRCh38]
Chr3:122002811 [GRCh37]
Chr3:3q21.1		 likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_000388.4(CASR):c.2110C>T (p.Leu704=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227747]|Nephrolithiasis/nephrocalcinosis [RCV004060367] Chr3:122284064 [GRCh38]
Chr3:122002911 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2639C>G (p.Ala880Gly) single nucleotide variant not provided [RCV002465969] Chr3:122284593 [GRCh38]
Chr3:122003440 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2115G>A (p.Val705=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060382] Chr3:122284069 [GRCh38]
Chr3:122002916 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2123C>T (p.Ala708Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060409] Chr3:122284077 [GRCh38]
Chr3:122002924 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1083A>G (p.Gln361=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061074] Chr3:122262118 [GRCh38]
Chr3:121980965 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV002466911]|Familial hypocalciuric hypercalcemia [RCV003775493]|not provided [RCV002473388] Chr3:122284008 [GRCh38]
Chr3:122002855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1850C>T (p.Thr617Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060024] Chr3:122283804 [GRCh38]
Chr3:122002651 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2118T>C (p.Phe706=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775103]|Nephrolithiasis/nephrocalcinosis [RCV004060389] Chr3:122284072 [GRCh38]
Chr3:122002919 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2569A>T (p.Ile857Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062766] Chr3:122284523 [GRCh38]
Chr3:122003370 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.945C>G (p.Gly315=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056824] Chr3:122261980 [GRCh38]
Chr3:121980827 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.108G>C (p.Gly36=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062546] Chr3:122254297 [GRCh38]
Chr3:121973144 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2783A>G (p.Glu928Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002300317] Chr3:122284737 [GRCh38]
Chr3:122003584 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1712G>A (p.Gly571Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060581] Chr3:122282216 [GRCh38]
Chr3:122001063 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2121G>A (p.Glu707=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060406] Chr3:122284075 [GRCh38]
Chr3:122002922 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1279A>C (p.Ile427Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056878] Chr3:122262314 [GRCh38]
Chr3:121981161 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.591G>A (p.Met197Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002300377] Chr3:122261626 [GRCh38]
Chr3:121980473 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2136C>A (p.Thr712=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060464] Chr3:122284090 [GRCh38]
Chr3:122002937 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1521A>T (p.Glu507Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058653] Chr3:122275955 [GRCh38]
Chr3:121994802 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2514G>A (p.Val838=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062069] Chr3:122284468 [GRCh38]
Chr3:122003315 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2628C>A (p.Thr876=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775322]|Nephrolithiasis/nephrocalcinosis [RCV004062983] Chr3:122284582 [GRCh38]
Chr3:122003429 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.727A>G (p.Ile243Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002303967] Chr3:122261762 [GRCh38]
Chr3:121980609 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.347C>G (p.Ala116Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002304009] Chr3:122257242 [GRCh38]
Chr3:121976089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101952]|Nephrolithiasis/nephrocalcinosis [RCV004062173] Chr3:122284500 [GRCh38]
Chr3:122003347 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2148C>G (p.Arg716=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061017] Chr3:122284102 [GRCh38]
Chr3:122002949 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.488C>T (p.Pro163Leu) single nucleotide variant not provided [RCV003144667] Chr3:122257383 [GRCh38]
Chr3:121976230 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1160G>C (p.Ser387Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004050514] Chr3:122262195 [GRCh38]
Chr3:121981042 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3050A>G (p.Gln1017Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215926]|Nephrolithiasis/nephrocalcinosis [RCV004066390] Chr3:122285004 [GRCh38]
Chr3:122003851 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.754A>T (p.Ile252Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056387] Chr3:122261789 [GRCh38]
Chr3:121980636 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.637G>C (p.Ala213Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053907] Chr3:122261672 [GRCh38]
Chr3:121980519 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2946T>G (p.Pro982=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065308] Chr3:122284900 [GRCh38]
Chr3:122003747 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2952G>C (p.Lys984Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002304788] Chr3:122284906 [GRCh38]
Chr3:122003753 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099263]|Nephrolithiasis/nephrocalcinosis [RCV004048833] Chr3:122285127 [GRCh38]
Chr3:122003974 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3182G>C (p.Ser1061Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048857] Chr3:122285136 [GRCh38]
Chr3:122003983 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.176A>G (p.Glu59Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003100823]|Nephrolithiasis/nephrocalcinosis [RCV004061383] Chr3:122254365 [GRCh38]
Chr3:121973212 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1116C>G (p.Thr372=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775380]|Nephrolithiasis/nephrocalcinosis [RCV004062284] Chr3:122262151 [GRCh38]
Chr3:121980998 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1455G>A (p.Leu485=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774338]|Nephrolithiasis/nephrocalcinosis [RCV004057931] Chr3:122275889 [GRCh38]
Chr3:121994736 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.453G>T (p.Thr151=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004051396] Chr3:122257348 [GRCh38]
Chr3:121976195 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.78C>A (p.Ala26=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003776453]|Nephrolithiasis/nephrocalcinosis [RCV004054765] Chr3:122254267 [GRCh38]
Chr3:121973114 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.560T>A (p.Ile187Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002305097] Chr3:122261595 [GRCh38]
Chr3:121980442 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2332G>T (p.Gly778Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002305124] Chr3:122284286 [GRCh38]
Chr3:122003133 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2954A>C (p.Asn985Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065339] Chr3:122284908 [GRCh38]
Chr3:122003755 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2184T>C (p.Val728=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061157] Chr3:122284138 [GRCh38]
Chr3:122002985 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1995C>A (p.Ser665=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061693] Chr3:122283949 [GRCh38]
Chr3:122002796 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1998G>C (p.Leu666=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774594]|Nephrolithiasis/nephrocalcinosis [RCV004061708] Chr3:122283952 [GRCh38]
Chr3:122002799 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.597C>T (p.Asp199=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003098084]|Nephrolithiasis/nephrocalcinosis [RCV004052515] Chr3:122261632 [GRCh38]
Chr3:121980479 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1122G>A (p.Leu374=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065380] Chr3:122262157 [GRCh38]
Chr3:121981004 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.117T>G (p.Pro39=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775931]|Nephrolithiasis/nephrocalcinosis [RCV004051525] Chr3:122254306 [GRCh38]
Chr3:121973153 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2283C>T (p.Ile761=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062544] Chr3:122284237 [GRCh38]
Chr3:122003084 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1714G>T (p.Glu572Ter) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060589] Chr3:122282218 [GRCh38]
Chr3:122001065 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1231T>G (p.Tyr411Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002301623] Chr3:122262266 [GRCh38]
Chr3:121981113 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2190C>G (p.Leu730=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061177] Chr3:122284144 [GRCh38]
Chr3:122002991 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3072T>C (p.Asp1024=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775029]|Nephrolithiasis/nephrocalcinosis [RCV004047732] Chr3:122285026 [GRCh38]
Chr3:122003873 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.15C>G (p.Ser5Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057413] Chr3:122254204 [GRCh38]
Chr3:121973051 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1415A>C (p.Asn472Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002301224] Chr3:122275849 [GRCh38]
Chr3:121994696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1097G>T (p.Gly366Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063482] Chr3:122262132 [GRCh38]
Chr3:121980979 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2451C>T (p.Val817=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101836]|Nephrolithiasis/nephrocalcinosis [RCV004063870] Chr3:122284405 [GRCh38]
Chr3:122003252 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1963C>G (p.Leu655Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003097394]|Nephrolithiasis/nephrocalcinosis [RCV004061555] Chr3:122283917 [GRCh38]
Chr3:122002764 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3048G>T (p.Leu1016=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004066377] Chr3:122285002 [GRCh38]
Chr3:122003849 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1662C>T (p.Ile554=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059782] Chr3:122282166 [GRCh38]
Chr3:122001013 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.916G>A (p.Ala306Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227706]|Nephrolithiasis/nephrocalcinosis [RCV004055052] Chr3:122261951 [GRCh38]
Chr3:121980798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2161C>G (p.Leu721Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061075] Chr3:122284115 [GRCh38]
Chr3:122002962 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.944G>C (p.Gly315Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056815] Chr3:122261979 [GRCh38]
Chr3:121980826 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.949A>G (p.Thr317Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056855] Chr3:122261984 [GRCh38]
Chr3:121980831 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1442A>G (p.Glu481Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057864] Chr3:122275876 [GRCh38]
Chr3:121994723 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2501C>T (p.Ser834Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062025] Chr3:122284455 [GRCh38]
Chr3:122003302 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.458T>A (p.Val153Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002296748] Chr3:122257353 [GRCh38]
Chr3:121976200 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1668G>T (p.Glu556Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059808] Chr3:122282172 [GRCh38]
Chr3:122001019 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.936C>T (p.His312=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103581]|Nephrolithiasis/nephrocalcinosis [RCV004055712] Chr3:122261971 [GRCh38]
Chr3:121980818 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2389C>T (p.Leu797=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101775]|Nephrolithiasis/nephrocalcinosis [RCV004063375] Chr3:122284343 [GRCh38]
Chr3:122003190 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3169T>G (p.Ser1057Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048822] Chr3:122285123 [GRCh38]
Chr3:122003970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3057G>C (p.Gly1019=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004066400] Chr3:122285011 [GRCh38]
Chr3:122003858 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1743C>T (p.Ala581=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061240] Chr3:122283697 [GRCh38]
Chr3:122002544 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775354]|Nephrolithiasis/nephrocalcinosis [RCV004064022] Chr3:122284680 [GRCh38]
Chr3:122003527 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.893C>A (p.Ala298Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774140]|Nephrolithiasis/nephrocalcinosis [RCV004054881] Chr3:122261928 [GRCh38]
Chr3:121980775 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2614G>A (p.Val872Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002296721] Chr3:122284568 [GRCh38]
Chr3:122003415 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102163]|Nephrolithiasis/nephrocalcinosis [RCV004064082] Chr3:122284695 [GRCh38]
Chr3:122003542 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3147G>T (p.Glu1049Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213655]|Nephrolithiasis/nephrocalcinosis [RCV004048464] Chr3:122285101 [GRCh38]
Chr3:122003948 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2423C>G (p.Thr808Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063743] Chr3:122284377 [GRCh38]
Chr3:122003224 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3183C>T (p.Ser1061=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227582]|Nephrolithiasis/nephrocalcinosis [RCV004048861] Chr3:122285137 [GRCh38]
Chr3:122003984 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1225A>C (p.Ile409Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004054363] Chr3:122262260 [GRCh38]
Chr3:121981107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1788C>A (p.Thr596=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059208] Chr3:122283742 [GRCh38]
Chr3:122002589 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1413C>T (p.Asn471=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057195] Chr3:122275847 [GRCh38]
Chr3:121994694 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1782C>T (p.Asn594=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774497]|Nephrolithiasis/nephrocalcinosis [RCV004061453] Chr3:122283736 [GRCh38]
Chr3:122002583 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1264T>G (p.Leu422Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003108064]|Nephrolithiasis/nephrocalcinosis [RCV004056532] Chr3:122262299 [GRCh38]
Chr3:121981146 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2109C>T (p.Leu703=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060353] Chr3:122284063 [GRCh38]
Chr3:122002910 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775367]|Nephrolithiasis/nephrocalcinosis [RCV004064214] Chr3:122284738 [GRCh38]
Chr3:122003585 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1385_1388dup (p.His463fs) duplication Nephrolithiasis/nephrocalcinosis [RCV004057043] Chr3:122275817..122275818 [GRCh38]
Chr3:121994664..121994665 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.168G>A (p.Glu56=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059929] Chr3:122254357 [GRCh38]
Chr3:121973204 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.121C>A (p.His41Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984249]|Familial hypocalciuric hypercalcemia [RCV002302092] Chr3:122254310 [GRCh38]
Chr3:121973157 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2939A>G (p.Asp980Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063202] Chr3:122284893 [GRCh38]
Chr3:122003740 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1489T>G (p.Ser497Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058487] Chr3:122275923 [GRCh38]
Chr3:121994770 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1091C>T (p.Ala364Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062652] Chr3:122262126 [GRCh38]
Chr3:121980973 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2311A>G (p.Met771Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062654] Chr3:122284265 [GRCh38]
Chr3:122003112 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.153C>T (p.Leu51=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227727]|Nephrolithiasis/nephrocalcinosis [RCV004059011] Chr3:122254342 [GRCh38]
Chr3:121973189 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2715C>T (p.Ser905=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063735] Chr3:122284669 [GRCh38]
Chr3:122003516 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3159A>C (p.Ala1053=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048496] Chr3:122285113 [GRCh38]
Chr3:122003960 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002300506] Chr3:122275825 [GRCh38]
Chr3:121994672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1179C>A (p.Pro393=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003094759]|Nephrolithiasis/nephrocalcinosis [RCV004051426] Chr3:122262214 [GRCh38]
Chr3:121981061 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005416224]|Familial hypocalciuric hypercalcemia [RCV002302016] Chr3:122262366 [GRCh38]
Chr3:121981213 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2589G>A (p.Lys863=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101995]|Nephrolithiasis/nephrocalcinosis [RCV004062836] Chr3:122284543 [GRCh38]
Chr3:122003390 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.223A>G (p.Ile75Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775148]|Nephrolithiasis/nephrocalcinosis [RCV004061872] Chr3:122257118 [GRCh38]
Chr3:121975965 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2805G>C (p.Pro935=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102246]|Nephrolithiasis/nephrocalcinosis [RCV004062280] Chr3:122284759 [GRCh38]
Chr3:122003606 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2811C>G (p.Ala937=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062297] Chr3:122284765 [GRCh38]
Chr3:122003612 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.945C>A (p.Gly315=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003120983]|Nephrolithiasis/nephrocalcinosis [RCV004056823] Chr3:122261980 [GRCh38]
Chr3:121980827 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2159G>A (p.Gly720Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002299532] Chr3:122284113 [GRCh38]
Chr3:122002960 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.639A>G (p.Ala213=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053930] Chr3:122261674 [GRCh38]
Chr3:121980521 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.484A>C (p.Ile162Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004050088] Chr3:122257379 [GRCh38]
Chr3:121976226 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1360A>G (p.Lys454Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058840] Chr3:122262395 [GRCh38]
Chr3:121981242 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.829G>C (p.Glu277Gln) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056016] Chr3:122261864 [GRCh38]
Chr3:121980711 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.309C>G (p.Thr103=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099193]|Nephrolithiasis/nephrocalcinosis [RCV004048316] Chr3:122257204 [GRCh38]
Chr3:121976051 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.894C>G (p.Ala298=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774142]|Nephrolithiasis/nephrocalcinosis [RCV004054887] Chr3:122261929 [GRCh38]
Chr3:121980776 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1608+1G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774406]|Nephrolithiasis/nephrocalcinosis [RCV004057455] Chr3:122276043 [GRCh38]
Chr3:121994890 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.63G>T (p.Gly21=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053947] Chr3:122254252 [GRCh38]
Chr3:121973099 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1351G>A (p.Asp451Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058796] Chr3:122262386 [GRCh38]
Chr3:121981233 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2480G>A (p.Ser827Asn) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005025824]|Nephrolithiasis/nephrocalcinosis [RCV004063965] Chr3:122284434 [GRCh38]
Chr3:122003281 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2088G>C (p.Leu696=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060287] Chr3:122284042 [GRCh38]
Chr3:122002889 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3140C>T (p.Pro1047Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048451] Chr3:122285094 [GRCh38]
Chr3:122003941 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2607C>A (p.Ile869=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062913] Chr3:122284561 [GRCh38]
Chr3:122003408 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1987T>G (p.Ser663Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061661] Chr3:122283941 [GRCh38]
Chr3:122002788 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.592G>A (p.Ala198Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004054282] Chr3:122261627 [GRCh38]
Chr3:121980474 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2955C>G (p.Asn985Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065340] Chr3:122284909 [GRCh38]
Chr3:122003756 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1050G>A (p.Glu350=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003097046]|Nephrolithiasis/nephrocalcinosis [RCV004058139] Chr3:122262085 [GRCh38]
Chr3:121980932 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1597T>G (p.Phe533Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057389] Chr3:122276031 [GRCh38]
Chr3:121994878 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2268G>T (p.Leu756=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061978] Chr3:122284222 [GRCh38]
Chr3:122003069 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.146A>G (p.Gln49Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058002] Chr3:122254335 [GRCh38]
Chr3:121973182 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.333C>A (p.Thr111=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004047769] Chr3:122257228 [GRCh38]
Chr3:121976075 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1599C>T (p.Phe533=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057393] Chr3:122276033 [GRCh38]
Chr3:121994880 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.159A>C (p.Ser53=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774400]|Nephrolithiasis/nephrocalcinosis [RCV004057396] Chr3:122254348 [GRCh38]
Chr3:121973195 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2786G>A (p.Arg929Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064218] Chr3:122284740 [GRCh38]
Chr3:122003587 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3207C>T (p.Ser1069=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048955] Chr3:122285161 [GRCh38]
Chr3:122004008 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1348G>A (p.Ala450Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058770] Chr3:122262383 [GRCh38]
Chr3:121981230 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2190C>T (p.Leu730=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061178] Chr3:122284144 [GRCh38]
Chr3:122002991 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.408C>T (p.Pro136=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775811]|Nephrolithiasis/nephrocalcinosis [RCV004051303] Chr3:122257303 [GRCh38]
Chr3:121976150 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2153G>C (p.Trp718Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061043] Chr3:122284107 [GRCh38]
Chr3:122002954 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2790G>A (p.Gln930=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064228] Chr3:122284744 [GRCh38]
Chr3:122003591 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.942T>G (p.Val314=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056797] Chr3:122261977 [GRCh38]
Chr3:121980824 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2439C>A (p.Ile813=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101818]|Nephrolithiasis/nephrocalcinosis [RCV004063809] Chr3:122284393 [GRCh38]
Chr3:122003240 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1278C>G (p.Ser426=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056830] Chr3:122262313 [GRCh38]
Chr3:121981160 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1764C>A (p.Asp588Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061352] Chr3:122283718 [GRCh38]
Chr3:122002565 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.596A>T (p.Asp199Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004052503] Chr3:122261631 [GRCh38]
Chr3:121980478 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.816T>C (p.Ser272=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004055518] Chr3:122261851 [GRCh38]
Chr3:121980698 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2704C>T (p.Leu902Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063697] Chr3:122284658 [GRCh38]
Chr3:122003505 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2451C>A (p.Val817=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063867] Chr3:122284405 [GRCh38]
Chr3:122003252 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.103G>T (p.Gly35Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002303434]|Nephrolithiasis/nephrocalcinosis [RCV004047659] Chr3:122254292 [GRCh38]
Chr3:121973139 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3206G>A (p.Ser1069Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048949] Chr3:122285160 [GRCh38]
Chr3:122004007 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.21C>G (p.Cys7Trp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061209] Chr3:122254210 [GRCh38]
Chr3:121973057 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1751A>C (p.Lys584Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002301904] Chr3:122283705 [GRCh38]
Chr3:122002552 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2763A>G (p.Glu921=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102189]|Nephrolithiasis/nephrocalcinosis [RCV004064153] Chr3:122284717 [GRCh38]
Chr3:122003564 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2256C>A (p.Arg752=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061932] Chr3:122284210 [GRCh38]
Chr3:122003057 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.973G>A (p.Gly325Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057571] Chr3:122262008 [GRCh38]
Chr3:121980855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2671C>G (p.Arg891Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063591] Chr3:122284625 [GRCh38]
Chr3:122003472 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1641G>A (p.Leu547=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774428]|Nephrolithiasis/nephrocalcinosis [RCV004058142] Chr3:122282145 [GRCh38]
Chr3:122000992 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1426C>A (p.Gln476Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057260] Chr3:122275860 [GRCh38]
Chr3:121994707 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1426C>G (p.Gln476Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004057261] Chr3:122275860 [GRCh38]
Chr3:121994707 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775170]|Nephrolithiasis/nephrocalcinosis [RCV004062521] Chr3:122284229 [GRCh38]
Chr3:122003076 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.248G>T (p.Ser83Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063993] Chr3:122257143 [GRCh38]
Chr3:121975990 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2766C>T (p.Asp922=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064162] Chr3:122284720 [GRCh38]
Chr3:122003567 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.855G>T (p.Arg285=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103513]|Nephrolithiasis/nephrocalcinosis [RCV004056248] Chr3:122261890 [GRCh38]
Chr3:121980737 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.495C>T (p.Val165=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003776002]|Nephrolithiasis/nephrocalcinosis [RCV004050293] Chr3:122261530 [GRCh38]
Chr3:121980377 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.600C>T (p.Ile200=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004052573] Chr3:122261635 [GRCh38]
Chr3:121980482 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3041T>C (p.Leu1014Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004066361] Chr3:122284995 [GRCh38]
Chr3:122003842 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.846G>A (p.Glu282=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099948]|Nephrolithiasis/nephrocalcinosis [RCV004056168] Chr3:122261881 [GRCh38]
Chr3:121980728 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1968C>T (p.Phe656=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061575] Chr3:122283922 [GRCh38]
Chr3:122002769 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1405T>G (p.Phe469Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774308]|Nephrolithiasis/nephrocalcinosis [RCV004057157] Chr3:122275839 [GRCh38]
Chr3:121994686 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.961G>T (p.Ala321Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002296200] Chr3:122261996 [GRCh38]
Chr3:121980843 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.181A>G (p.Ile61Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059369] Chr3:122254370 [GRCh38]
Chr3:121973217 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.566_567delinsTC (p.Asn189Ile) indel Familial hypocalciuric hypercalcemia [RCV002303313] Chr3:122261601..122261602 [GRCh38]
Chr3:121980448..121980449 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.849T>A (p.Ile283=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056187] Chr3:122261884 [GRCh38]
Chr3:121980731 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.147A>G (p.Gln49=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003095217]|Nephrolithiasis/nephrocalcinosis [RCV004058438] Chr3:122254336 [GRCh38]
Chr3:121973183 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.727A>C (p.Ile243Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004055834] Chr3:122261762 [GRCh38]
Chr3:121980609 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.750A>C (p.Glu250Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056342] Chr3:122261785 [GRCh38]
Chr3:121980632 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.162G>A (p.Arg54=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058070] Chr3:122254351 [GRCh38]
Chr3:121973198 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1986C>T (p.Phe662=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061657] Chr3:122283940 [GRCh38]
Chr3:122002787 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.770A>G (p.Glu257Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004054605] Chr3:122261805 [GRCh38]
Chr3:121980652 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.756C>T (p.Ile252=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056405] Chr3:122261791 [GRCh38]
Chr3:121980638 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1980C>T (p.Cys660=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061640] Chr3:122283934 [GRCh38]
Chr3:122002781 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103005]|Nephrolithiasis/nephrocalcinosis [RCV004066393] Chr3:122285006 [GRCh38]
Chr3:122003853 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.605A>G (p.Glu202Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004052641] Chr3:122261640 [GRCh38]
Chr3:121980487 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.81A>G (p.Gln27=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099858]|Nephrolithiasis/nephrocalcinosis [RCV004055537] Chr3:122254270 [GRCh38]
Chr3:121973117 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.755T>A (p.Ile252Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099679]|Nephrolithiasis/nephrocalcinosis [RCV004056393] Chr3:122261790 [GRCh38]
Chr3:121980637 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774482]|Nephrolithiasis/nephrocalcinosis [RCV004060730] Chr3:122283693 [GRCh38]
Chr3:122002540 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1895G>C (p.Gly632Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060736] Chr3:122283849 [GRCh38]
Chr3:122002696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1863G>C (p.Val621=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060073] Chr3:122283817 [GRCh38]
Chr3:122002664 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2080T>C (p.Cys694Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060263] Chr3:122284034 [GRCh38]
Chr3:122002881 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1502G>C (p.Gly501Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058549] Chr3:122275936 [GRCh38]
Chr3:121994783 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2325C>T (p.Phe775=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062695] Chr3:122284279 [GRCh38]
Chr3:122003126 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2337C>T (p.Tyr779=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775196]|Nephrolithiasis/nephrocalcinosis [RCV004062728] Chr3:122284291 [GRCh38]
Chr3:122003138 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.933C>A (p.Phe311Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004055695] Chr3:122261968 [GRCh38]
Chr3:121980815 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2232C>T (p.Tyr744=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061840] Chr3:122284186 [GRCh38]
Chr3:122003033 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1232A>C (p.Tyr411Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004052885] Chr3:122262267 [GRCh38]
Chr3:121981114 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2949G>A (p.Gln983=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102908]|Nephrolithiasis/nephrocalcinosis [RCV004065317] Chr3:122284903 [GRCh38]
Chr3:122003750 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3069A>G (p.Leu1023=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103029]|Nephrolithiasis/nephrocalcinosis [RCV004066427] Chr3:122285023 [GRCh38]
Chr3:122003870 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2220G>C (p.Val740=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061803] Chr3:122284174 [GRCh38]
Chr3:122003021 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1155C>T (p.Ser385=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775738]|Nephrolithiasis/nephrocalcinosis [RCV004048141] Chr3:122262190 [GRCh38]
Chr3:121981037 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3090A>G (p.Thr1030=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775034]|Nephrolithiasis/nephrocalcinosis [RCV004048293] Chr3:122285044 [GRCh38]
Chr3:122003891 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2727C>G (p.Thr909=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775355]|Nephrolithiasis/nephrocalcinosis [RCV004064023] Chr3:122284681 [GRCh38]
Chr3:122003528 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2109C>A (p.Leu703=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060351] Chr3:122284063 [GRCh38]
Chr3:122002910 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101741]|Nephrolithiasis/nephrocalcinosis [RCV004062679]|not specified [RCV005239433] Chr3:122284274 [GRCh38]
Chr3:122003121 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3165A>G (p.Val1055=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048807] Chr3:122285119 [GRCh38]
Chr3:122003966 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1908G>A (p.Lys636=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774553]|Nephrolithiasis/nephrocalcinosis [RCV004060806] Chr3:122283862 [GRCh38]
Chr3:122002709 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1908G>C (p.Lys636Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060807] Chr3:122283862 [GRCh38]
Chr3:122002709 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1628G>A (p.Ser543Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058058]|not specified [RCV005232974] Chr3:122282132 [GRCh38]
Chr3:122000979 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3196G>A (p.Gly1066Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048907] Chr3:122285150 [GRCh38]
Chr3:122003997 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2792A>G (p.Lys931Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064232] Chr3:122284746 [GRCh38]
Chr3:122003593 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1234A>G (p.Thr412Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053527] Chr3:122262269 [GRCh38]
Chr3:121981116 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1914C>A (p.Arg638=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774558]|Nephrolithiasis/nephrocalcinosis [RCV004060832] Chr3:122283868 [GRCh38]
Chr3:122002715 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2952G>T (p.Lys984Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065333] Chr3:122284906 [GRCh38]
Chr3:122003753 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1764C>T (p.Asp588=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774488]|Nephrolithiasis/nephrocalcinosis [RCV004061354] Chr3:122283718 [GRCh38]
Chr3:122002565 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2352T>G (p.Ala784=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063255] Chr3:122284306 [GRCh38]
Chr3:122003153 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2805G>T (p.Pro935=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062281] Chr3:122284759 [GRCh38]
Chr3:122003606 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.590T>C (p.Met197Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004054258] Chr3:122261625 [GRCh38]
Chr3:121980472 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1260G>A (p.Val420=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099919]|Nephrolithiasis/nephrocalcinosis [RCV004056070] Chr3:122262295 [GRCh38]
Chr3:121981142 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1878G>A (p.Leu626=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003100908]|Nephrolithiasis/nephrocalcinosis [RCV004060148] Chr3:122283832 [GRCh38]
Chr3:122002679 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1879A>G (p.Thr627Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060149] Chr3:122283833 [GRCh38]
Chr3:122002680 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2969G>A (p.Arg990Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065391] Chr3:122284923 [GRCh38]
Chr3:122003770 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1906A>G (p.Lys636Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060792] Chr3:122283860 [GRCh38]
Chr3:122002707 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1841T>C (p.Ile614Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215894]|Nephrolithiasis/nephrocalcinosis [RCV004059984] Chr3:122283795 [GRCh38]
Chr3:122002642 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2184T>G (p.Val728=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061158] Chr3:122284138 [GRCh38]
Chr3:122002985 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2673C>T (p.Arg891=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063597] Chr3:122284627 [GRCh38]
Chr3:122003474 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.155A>T (p.Lys52Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774384]|Nephrolithiasis/nephrocalcinosis [RCV004059115] Chr3:122254344 [GRCh38]
Chr3:121973191 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1560A>G (p.Arg520=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003096935]|Nephrolithiasis/nephrocalcinosis [RCV004059126] Chr3:122275994 [GRCh38]
Chr3:121994841 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.699G>A (p.Arg233=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003776331]|Nephrolithiasis/nephrocalcinosis [RCV004055096] Chr3:122261734 [GRCh38]
Chr3:121980581 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2694G>T (p.Arg898=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063665] Chr3:122284648 [GRCh38]
Chr3:122003495 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003102127]|Nephrolithiasis/nephrocalcinosis [RCV004063709] Chr3:122284661 [GRCh38]
Chr3:122003508 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103504]|Nephrolithiasis/nephrocalcinosis [RCV004056132] Chr3:122262057 [GRCh38]
Chr3:121980904 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.48C>T (p.His16=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004050186] Chr3:122254237 [GRCh38]
Chr3:121973084 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.560T>C (p.Ile187Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003096812]|Nephrolithiasis/nephrocalcinosis [RCV004053594] Chr3:122261595 [GRCh38]
Chr3:121980442 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2193C>T (p.Cys731=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775132]|Nephrolithiasis/nephrocalcinosis [RCV004061181] Chr3:122284147 [GRCh38]
Chr3:122002994 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2985G>A (p.Gln995=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004065432] Chr3:122284939 [GRCh38]
Chr3:122003786 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.688G>A (p.Ala230Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002303195] Chr3:122261723 [GRCh38]
Chr3:121980570 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.880C>T (p.Leu294=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056732] Chr3:122261915 [GRCh38]
Chr3:121980762 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775168]|Nephrolithiasis/nephrocalcinosis [RCV004062510] Chr3:122284226 [GRCh38]
Chr3:122003073 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2166C>T (p.Asn722=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061087] Chr3:122284120 [GRCh38]
Chr3:122002967 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1566C>T (p.Phe522=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774387]|Nephrolithiasis/nephrocalcinosis [RCV004059162] Chr3:122276000 [GRCh38]
Chr3:121994847 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1872T>C (p.Ile624=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060114] Chr3:122283826 [GRCh38]
Chr3:122002673 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.867G>C (p.Thr289=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056623] Chr3:122261902 [GRCh38]
Chr3:121980749 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.851T>C (p.Val284Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215865]|Nephrolithiasis/nephrocalcinosis [RCV004056218] Chr3:122261886 [GRCh38]
Chr3:121980733 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3117C>T (p.Asp1039=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048383] Chr3:122285071 [GRCh38]
Chr3:122003918 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2205G>C (p.Gln735His) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061749] Chr3:122284159 [GRCh38]
Chr3:122003006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1708G>A (p.Asp570Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060555] Chr3:122282212 [GRCh38]
Chr3:122001059 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.192T>C (p.Asn64=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774569]|Nephrolithiasis/nephrocalcinosis [RCV004060905] Chr3:122257087 [GRCh38]
Chr3:121975934 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1932G>A (p.Lys644=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003108093]|Nephrolithiasis/nephrocalcinosis [RCV004060919] Chr3:122283886 [GRCh38]
Chr3:122002733 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3127G>A (p.Glu1043Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048402] Chr3:122285081 [GRCh38]
Chr3:122003928 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2596C>G (p.Arg866Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062869] Chr3:122284550 [GRCh38]
Chr3:122003397 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002300318] Chr3:122275874 [GRCh38]
Chr3:121994721 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.477C>T (p.Leu159=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004052113] Chr3:122257372 [GRCh38]
Chr3:121976219 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3197G>C (p.Gly1066Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004048910] Chr3:122285151 [GRCh38]
Chr3:122003998 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1522G>A (p.Val508Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058665]|not specified [RCV003388116] Chr3:122275956 [GRCh38]
Chr3:121994803 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1518G>A (p.Lys506=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004058639] Chr3:122275952 [GRCh38]
Chr3:121994799 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1016C>G (p.Pro339Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004050877] Chr3:122262051 [GRCh38]
Chr3:121980898 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2250C>T (p.Ser750=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004061910] Chr3:122284204 [GRCh38]
Chr3:122003051 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1808T>A (p.Ile603Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004059302] Chr3:122283762 [GRCh38]
Chr3:122002609 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.711C>G (p.Ile237Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004055273] Chr3:122261746 [GRCh38]
Chr3:121980593 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.321C>T (p.Ala107=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003099308]|Nephrolithiasis/nephrocalcinosis [RCV004049006] Chr3:122257216 [GRCh38]
Chr3:121976063 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1078C>T (p.Leu360Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775088]|Nephrolithiasis/nephrocalcinosis [RCV004060234] Chr3:122262113 [GRCh38]
Chr3:121980960 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2079A>G (p.Ser693=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004060249] Chr3:122284033 [GRCh38]
Chr3:122002880 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.957A>C (p.Gly319=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003774189]|Nephrolithiasis/nephrocalcinosis [RCV004056925] Chr3:122261992 [GRCh38]
Chr3:121980839 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002302363] Chr3:122285123 [GRCh38]
Chr3:122003970 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.640G>A (p.Ala214Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004053956] Chr3:122261675 [GRCh38]
Chr3:121980522 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2545C>T (p.Leu849=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003101950]|Nephrolithiasis/nephrocalcinosis [RCV004062172] Chr3:122284499 [GRCh38]
Chr3:122003346 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2757C>T (p.Asn919=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064128] Chr3:122284711 [GRCh38]
Chr3:122003558 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1269A>G (p.Ala423=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004056726] Chr3:122262304 [GRCh38]
Chr3:121981151 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.835C>T (p.Leu279Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003103496]|Nephrolithiasis/nephrocalcinosis [RCV004056077] Chr3:122261870 [GRCh38]
Chr3:121980717 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.154A>G (p.Lys52Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002303288] Chr3:122254343 [GRCh38]
Chr3:121973190 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.720T>C (p.Ser240=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227671]|Nephrolithiasis/nephrocalcinosis [RCV004055762] Chr3:122261755 [GRCh38]
Chr3:121980602 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2565C>G (p.Asn855Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002299614] Chr3:122284519 [GRCh38]
Chr3:122003366 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2553C>G (p.Cys851Trp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004062194] Chr3:122284507 [GRCh38]
Chr3:122003354 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2907C>T (p.Gly969=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004063123] Chr3:122284861 [GRCh38]
Chr3:122003708 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1226T>C (p.Ile409Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002685917] Chr3:122262261 [GRCh38]
Chr3:121981108 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1758A>G (p.Pro586=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003075182]|Nephrolithiasis/nephrocalcinosis [RCV004603287] Chr3:122283712 [GRCh38]
Chr3:122002559 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1054T>G (p.Trp352Gly) single nucleotide variant not provided [RCV002512232] Chr3:122262089 [GRCh38]
Chr3:121980936 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.951C>T (p.Thr317=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002775872]|Nephrolithiasis/nephrocalcinosis [RCV004990869] Chr3:122261986 [GRCh38]
Chr3:121980833 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+15C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002862642] Chr3:122282251 [GRCh38]
Chr3:122001098 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2785A>G (p.Arg929Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002902997] Chr3:122284739 [GRCh38]
Chr3:122003586 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-10T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002862544] Chr3:122261518 [GRCh38]
Chr3:121980365 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.641C>G (p.Ala214Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002751408] Chr3:122261676 [GRCh38]
Chr3:121980523 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1563C>T (p.Leu521=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002948166] Chr3:122275997 [GRCh38]
Chr3:121994844 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2131C>T (p.Pro711Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003032477] Chr3:122284085 [GRCh38]
Chr3:122002932 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.626T>C (p.Val209Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002734824] Chr3:122261661 [GRCh38]
Chr3:121980508 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002908154] Chr3:122275995 [GRCh38]
Chr3:121994842 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2509G>A (p.Glu837Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002996572] Chr3:122284463 [GRCh38]
Chr3:122003310 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2071T>G (p.Cys691Gly) single nucleotide variant not provided [RCV002475300] Chr3:122284025 [GRCh38]
Chr3:122002872 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2370T>G (p.Phe790Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002842725] Chr3:122284324 [GRCh38]
Chr3:122003171 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1565T>G (p.Phe522Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002636063] Chr3:122275999 [GRCh38]
Chr3:121994846 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1020G>A (p.Arg340=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002690407] Chr3:122262055 [GRCh38]
Chr3:121980902 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+20G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002615149] Chr3:122282256 [GRCh38]
Chr3:122001103 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2436C>G (p.Leu812=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003016484] Chr3:122284390 [GRCh38]
Chr3:122003237 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1669G>T (p.Gly557Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002819735] Chr3:122282173 [GRCh38]
Chr3:122001020 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.345T>C (p.Val115=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002862273] Chr3:122257240 [GRCh38]
Chr3:121976087 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2831A>G (p.Gln944Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003013705] Chr3:122284785 [GRCh38]
Chr3:122003632 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1643C>A (p.Ala548Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003015172] Chr3:122282147 [GRCh38]
Chr3:122000994 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.955G>A (p.Gly319Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002755396] Chr3:122261990 [GRCh38]
Chr3:121980837 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1340G>T (p.Gly447Val) single nucleotide variant not provided [RCV002475298] Chr3:122262375 [GRCh38]
Chr3:121981222 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.746A>T (p.Glu249Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002838078] Chr3:122261781 [GRCh38]
Chr3:121980628 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1800C>G (p.Ala600=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002994437] Chr3:122283754 [GRCh38]
Chr3:122002601 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.658C>A (p.Arg220=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003075067]|Nephrolithiasis/nephrocalcinosis [RCV004071728] Chr3:122261693 [GRCh38]
Chr3:121980540 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.519C>T (p.Leu173=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002614459] Chr3:122261554 [GRCh38]
Chr3:121980401 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002815202] Chr3:122284899 [GRCh38]
Chr3:122003746 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2298C>G (p.His766Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003074023] Chr3:122284252 [GRCh38]
Chr3:122003099 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2726C>G (p.Thr909Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003015549] Chr3:122284680 [GRCh38]
Chr3:122003527 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg) single nucleotide variant not provided [RCV002475299] Chr3:122284194 [GRCh38]
Chr3:122003041 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+8A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003074475] Chr3:122257395 [GRCh38]
Chr3:121976242 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2151G>C (p.Lys717Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002819130] Chr3:122284105 [GRCh38]
Chr3:122002952 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002843082] Chr3:122282122 [GRCh38]
Chr3:122000969 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2795A>C (p.Gln932Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002750600] Chr3:122284749 [GRCh38]
Chr3:122003596 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.558C>T (p.Thr186=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002862083] Chr3:122261593 [GRCh38]
Chr3:121980440 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+1G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003033614] Chr3:122262413 [GRCh38]
Chr3:121981260 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2072G>C (p.Cys691Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002971648] Chr3:122284026 [GRCh38]
Chr3:122002873 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2915C>G (p.Thr972Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002843610] Chr3:122284869 [GRCh38]
Chr3:122003716 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004064267]|not provided [RCV002475297] Chr3:122284260 [GRCh38]
Chr3:122003107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.533A>G (p.Asn178Ser) single nucleotide variant not provided [RCV002475301] Chr3:122261568 [GRCh38]
Chr3:121980415 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.421G>A (p.Val141Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003014102] Chr3:122257316 [GRCh38]
Chr3:121976163 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1844C>T (p.Ala615Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002755223] Chr3:122283798 [GRCh38]
Chr3:122002645 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186-18A>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002862462] Chr3:122257063 [GRCh38]
Chr3:121975910 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1609-11C>G single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005028002]|Familial hypocalciuric hypercalcemia [RCV002907605] Chr3:122282102 [GRCh38]
Chr3:122000949 [GRCh37]
Chr3:3q21.1		 likely benign|uncertain significance
NM_000388.4(CASR):c.464A>T (p.Asn155Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002819740] Chr3:122257359 [GRCh38]
Chr3:121976206 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.306C>T (p.Asn102=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002903606] Chr3:122257201 [GRCh38]
Chr3:121976048 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002889461] Chr3:122284317 [GRCh38]
Chr3:122003164 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3096G>A (p.Leu1032=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003055775]|Nephrolithiasis/nephrocalcinosis [RCV004070085] Chr3:122285050 [GRCh38]
Chr3:122003897 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+12G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002695161] Chr3:122254386 [GRCh38]
Chr3:121973233 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1249T>A (p.Ser417Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004116350] Chr3:122262284 [GRCh38]
Chr3:121981131 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.834C>T (p.Pro278=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002696238]|Nephrolithiasis/nephrocalcinosis [RCV004067639] Chr3:122261869 [GRCh38]
Chr3:121980716 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2247A>C (p.Ser749=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002695341] Chr3:122284201 [GRCh38]
Chr3:122003048 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002780832] Chr3:122284142 [GRCh38]
Chr3:122002989 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.273G>A (p.Leu91=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002871351] Chr3:122257168 [GRCh38]
Chr3:121976015 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1490C>A (p.Ser497Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002800217] Chr3:122275924 [GRCh38]
Chr3:121994771 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+6G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003036652] Chr3:122282242 [GRCh38]
Chr3:122001089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.184A>C (p.Arg62=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003002901] Chr3:122254373 [GRCh38]
Chr3:121973220 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs) indel Familial hypocalciuric hypercalcemia [RCV002923476] Chr3:122261807..122261808 [GRCh38]
Chr3:121980654..121980655 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2466T>C (p.Ile822=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002885672] Chr3:122284420 [GRCh38]
Chr3:122003267 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2508A>G (p.Val836=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002885673] Chr3:122284462 [GRCh38]
Chr3:122003309 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+13C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002820301] Chr3:122262425 [GRCh38]
Chr3:121981272 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+14T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002999726] Chr3:122262426 [GRCh38]
Chr3:121981273 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002621524]|Nephrolithiasis/nephrocalcinosis [RCV004990801] Chr3:122283806 [GRCh38]
Chr3:122002653 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003019138] Chr3:122284368 [GRCh38]
Chr3:122003215 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2382C>T (p.Ser794=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002886344] Chr3:122284336 [GRCh38]
Chr3:122003183 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2511G>T (p.Glu837Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002847135] Chr3:122284465 [GRCh38]
Chr3:122003312 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1386G>A (p.Lys462=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002886010]|Nephrolithiasis/nephrocalcinosis [RCV004990899] Chr3:122275820 [GRCh38]
Chr3:121994667 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1418T>G (p.Met473Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002979323] Chr3:122275852 [GRCh38]
Chr3:121994699 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1598T>A (p.Phe533Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003019028] Chr3:122276032 [GRCh38]
Chr3:121994879 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2322C>A (p.Gly774=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002695123] Chr3:122284276 [GRCh38]
Chr3:122003123 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2114T>C (p.Val705Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003036262] Chr3:122284068 [GRCh38]
Chr3:122002915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2127G>A (p.Lys709=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002761154]|Nephrolithiasis/nephrocalcinosis [RCV004067878] Chr3:122284081 [GRCh38]
Chr3:122002928 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2292G>T (p.Thr764=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002795879] Chr3:122284246 [GRCh38]
Chr3:122003093 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2378A>T (p.Lys793Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002734977] Chr3:122284332 [GRCh38]
Chr3:122003179 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.442G>A (p.Gly148Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002638190]|not provided [RCV003542441]|not specified [RCV004783022] Chr3:122257337 [GRCh38]
Chr3:121976184 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer) microsatellite Familial hypocalciuric hypercalcemia [RCV002866316] Chr3:122284682..122284683 [GRCh38]
Chr3:122003529..122003530 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002979239] Chr3:122262368 [GRCh38]
Chr3:121981215 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003021162]|not provided [RCV003481365] Chr3:122283969 [GRCh38]
Chr3:122002816 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002979025] Chr3:122285010 [GRCh38]
Chr3:122003857 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002619258]|Nephrolithiasis/nephrocalcinosis [RCV004068910] Chr3:122284842 [GRCh38]
Chr3:122003689 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2460C>T (p.Ser820=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002885671]|Nephrolithiasis/nephrocalcinosis [RCV004990897] Chr3:122284414 [GRCh38]
Chr3:122003261 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2973T>A (p.Asn991Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003054912] Chr3:122284927 [GRCh38]
Chr3:122003774 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1100C>A (p.Pro367His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002620230]|Nephrolithiasis/nephrocalcinosis [RCV004070492] Chr3:122262135 [GRCh38]
Chr3:121980982 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2130C>A (p.Ile710=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002824435] Chr3:122284084 [GRCh38]
Chr3:122002931 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1898T>G (p.Val633Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003059116] Chr3:122283852 [GRCh38]
Chr3:122002699 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2981A>C (p.His994Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003059254] Chr3:122284935 [GRCh38]
Chr3:122003782 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.266C>G (p.Pro89Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002576453] Chr3:122257161 [GRCh38]
Chr3:121976008 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1557A>G (p.Glu519=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002572581]|Nephrolithiasis/nephrocalcinosis [RCV005308770] Chr3:122275991 [GRCh38]
Chr3:121994838 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.282A>T (p.Gly94=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003083248]|Nephrolithiasis/nephrocalcinosis [RCV004071636] Chr3:122257177 [GRCh38]
Chr3:121976024 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3058del (p.Glu1020fs) deletion Familial hypocalciuric hypercalcemia [RCV003004953] Chr3:122285009 [GRCh38]
Chr3:122003856 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1864C>T (p.Leu622=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002805860] Chr3:122283818 [GRCh38]
Chr3:122002665 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.811T>C (p.Ser271Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002624793] Chr3:122261846 [GRCh38]
Chr3:121980693 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2323T>G (p.Phe775Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002853223] Chr3:122284277 [GRCh38]
Chr3:122003124 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.484A>G (p.Ile162Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003059447] Chr3:122257379 [GRCh38]
Chr3:121976226 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1902dup (p.Ile635fs) duplication Familial hypocalciuric hypercalcemia [RCV002894219] Chr3:122283853..122283854 [GRCh38]
Chr3:122002700..122002701 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2347C>T (p.Leu783=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002876396] Chr3:122284301 [GRCh38]
Chr3:122003148 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3093T>A (p.Gly1031=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002876608] Chr3:122285047 [GRCh38]
Chr3:122003894 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1927G>A (p.Val643Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002666785] Chr3:122283881 [GRCh38]
Chr3:122002728 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.568G>A (p.Asp190Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003085585] Chr3:122261603 [GRCh38]
Chr3:121980450 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2792AGC[6] (p.Gln934_Pro935insGlnGln) microsatellite Familial hypocalciuric hypercalcemia [RCV003025956] Chr3:122284745..122284746 [GRCh38]
Chr3:122003592..122003593 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.831G>C (p.Glu277Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002624384] Chr3:122261866 [GRCh38]
Chr3:121980713 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1551G>A (p.Lys517=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002852134] Chr3:122275985 [GRCh38]
Chr3:121994832 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.46C>T (p.His16Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002710526] Chr3:122254235 [GRCh38]
Chr3:121973082 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2406T>C (p.Asn802=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002625107]|Nephrolithiasis/nephrocalcinosis [RCV004992546] Chr3:122284360 [GRCh38]
Chr3:122003207 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2651del (p.Ala884fs) deletion Familial hypocalciuric hypercalcemia [RCV002929133] Chr3:122284605 [GRCh38]
Chr3:122003452 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.833C>T (p.Pro278Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002983116]|Nephrolithiasis/nephrocalcinosis [RCV004065240] Chr3:122261868 [GRCh38]
Chr3:121980715 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+13C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003024081] Chr3:122282249 [GRCh38]
Chr3:122001096 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1155C>A (p.Ser385Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003022228] Chr3:122262190 [GRCh38]
Chr3:121981037 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+6G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003005539] Chr3:122282242 [GRCh38]
Chr3:122001089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs) deletion Familial hypocalciuric hypercalcemia [RCV002786271] Chr3:122284575..122284582 [GRCh38]
Chr3:122003422..122003429 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1803G>C (p.Lys601Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002664316] Chr3:122283757 [GRCh38]
Chr3:122002604 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+8A>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002829762] Chr3:122257395 [GRCh38]
Chr3:121976242 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2187C>T (p.Phe729=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002595213]|Nephrolithiasis/nephrocalcinosis [RCV005323356] Chr3:122284141 [GRCh38]
Chr3:122002988 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.104G>A (p.Gly35Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003040830] Chr3:122254293 [GRCh38]
Chr3:121973140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.365C>T (p.Ser122Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002919070] Chr3:122257260 [GRCh38]
Chr3:121976107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.756C>G (p.Ile252Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002595084] Chr3:122261791 [GRCh38]
Chr3:121980638 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1542T>C (p.Tyr514=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002741980]|Nephrolithiasis/nephrocalcinosis [RCV004603228] Chr3:122275976 [GRCh38]
Chr3:121994823 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1165A>G (p.Thr389Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002829354] Chr3:122262200 [GRCh38]
Chr3:121981047 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493G>A (p.Val165Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003084971] Chr3:122261528 [GRCh38]
Chr3:121980375 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.856C>A (p.Arg286Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002851314] Chr3:122261891 [GRCh38]
Chr3:121980738 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.545C>G (p.Ser182Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003056430] Chr3:122261580 [GRCh38]
Chr3:121980427 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1293G>A (p.Leu431=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003082981] Chr3:122262328 [GRCh38]
Chr3:121981175 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003083014] Chr3:122262069 [GRCh38]
Chr3:121980916 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3150G>A (p.Leu1050=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002851029] Chr3:122285104 [GRCh38]
Chr3:122003951 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-13T>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002918969] Chr3:122257068 [GRCh38]
Chr3:121975915 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002872455] Chr3:122276008 [GRCh38]
Chr3:121994855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1733-13G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002872525] Chr3:122283674 [GRCh38]
Chr3:122002521 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186-1G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003056245] Chr3:122257080 [GRCh38]
Chr3:121975927 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002741429] Chr3:122284506 [GRCh38]
Chr3:122003353 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2830C>T (p.Gln944Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002872074] Chr3:122284784 [GRCh38]
Chr3:122003631 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1565T>C (p.Phe522Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003039669] Chr3:122275999 [GRCh38]
Chr3:121994846 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2772C>T (p.Phe924=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002790822] Chr3:122284726 [GRCh38]
Chr3:122003573 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-3C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002633013] Chr3:122257078 [GRCh38]
Chr3:121975925 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.734A>G (p.Gln245Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651723] Chr3:122261769 [GRCh38]
Chr3:121980616 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del) microsatellite Familial hypocalciuric hypercalcemia [RCV002651732] Chr3:122284392..122284394 [GRCh38]
Chr3:122003239..122003241 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003090678] Chr3:122284475 [GRCh38]
Chr3:122003322 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.534T>A (p.Asn178Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003046271] Chr3:122261569 [GRCh38]
Chr3:121980416 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651727] Chr3:122283698 [GRCh38]
Chr3:122002545 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2074A>G (p.Ile692Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002716119] Chr3:122284028 [GRCh38]
Chr3:122002875 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+12C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003026551] Chr3:122282248 [GRCh38]
Chr3:122001095 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2T>G (p.Met1Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651721] Chr3:122254191 [GRCh38]
Chr3:121973038 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651726]|not provided [RCV004719301]|not specified [RCV003491266] Chr3:122282189 [GRCh38]
Chr3:122001036 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1231T>A (p.Tyr411Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003044604] Chr3:122262266 [GRCh38]
Chr3:121981113 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2182G>T (p.Val728Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651729]|Familial hypocalciuric hypercalcemia [RCV005059183]|not provided [RCV004596568] Chr3:122284136 [GRCh38]
Chr3:122002983 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.2663C>T (p.Thr888Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651734] Chr3:122284617 [GRCh38]
Chr3:122003464 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.995A>G (p.Glu332Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003066017] Chr3:122262030 [GRCh38]
Chr3:121980877 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651725]|not provided [RCV003156401] Chr3:122275975 [GRCh38]
Chr3:121994822 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002632551] Chr3:122285027 [GRCh38]
Chr3:122003874 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2045del (p.Pro682fs) deletion Familial hypocalciuric hypercalcemia [RCV002811393] Chr3:122283998 [GRCh38]
Chr3:122002845 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2750A>G (p.Lys917Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002602535] Chr3:122284704 [GRCh38]
Chr3:122003551 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2T>C (p.Met1Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002877444]|Familial hypocalciuric hypercalcemia [RCV003388129] Chr3:122254191 [GRCh38]
Chr3:121973038 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.766G>A (p.Val256Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003062061] Chr3:122261801 [GRCh38]
Chr3:121980648 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034451]|Familial hypocalciuric hypercalcemia [RCV002895283] Chr3:122283792 [GRCh38]
Chr3:122002639 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.399G>C (p.Glu133Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003009426] Chr3:122257294 [GRCh38]
Chr3:121976141 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3036A>G (p.Pro1012=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003086423]|Nephrolithiasis/nephrocalcinosis [RCV004073191] Chr3:122284990 [GRCh38]
Chr3:122003837 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002938055] Chr3:122262135 [GRCh38]
Chr3:121980982 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005028021]|Familial hypocalciuric hypercalcemia [RCV002937438]|Nephrolithiasis/nephrocalcinosis [RCV004066272] Chr3:122262149 [GRCh38]
Chr3:121980996 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1204A>G (p.Ser402Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002937694] Chr3:122262239 [GRCh38]
Chr3:121981086 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.70C>T (p.Gln24Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003088759] Chr3:122254259 [GRCh38]
Chr3:121973106 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.564C>A (p.Pro188=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002899063] Chr3:122261599 [GRCh38]
Chr3:121980446 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1561C>G (p.Leu521Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002716910] Chr3:122275995 [GRCh38]
Chr3:121994842 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186-4C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002877173] Chr3:122257077 [GRCh38]
Chr3:121975924 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005028290]|Familial hypocalciuric hypercalcemia [RCV002647411] Chr3:122275930 [GRCh38]
Chr3:121994777 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1044C>T (p.Ala348=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002627733]|Nephrolithiasis/nephrocalcinosis [RCV004066678] Chr3:122262079 [GRCh38]
Chr3:121980926 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2063T>G (p.Phe688Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003045516] Chr3:122284017 [GRCh38]
Chr3:122002864 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2368T>C (p.Phe790Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002811693] Chr3:122284322 [GRCh38]
Chr3:122003169 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2429G>C (p.Ser810Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002628610] Chr3:122284383 [GRCh38]
Chr3:122003230 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1286A>G (p.His429Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002601207]|Nephrolithiasis/nephrocalcinosis [RCV004065634] Chr3:122262321 [GRCh38]
Chr3:121981168 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3106G>A (p.Val1036Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003009828] Chr3:122285060 [GRCh38]
Chr3:122003907 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+13G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002670924] Chr3:122254387 [GRCh38]
Chr3:121973234 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2330T>C (p.Ile777Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003028937]|not provided [RCV004779401] Chr3:122284284 [GRCh38]
Chr3:122003131 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.659G>C (p.Arg220Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651722] Chr3:122261694 [GRCh38]
Chr3:121980541 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651724] Chr3:122275960 [GRCh38]
Chr3:121994807 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1601C>T (p.Ser534Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002676381] Chr3:122276035 [GRCh38]
Chr3:121994882 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651730] Chr3:122284158 [GRCh38]
Chr3:122003005 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.540C>T (p.Phe180=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002581816] Chr3:122261575 [GRCh38]
Chr3:121980422 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1193A>T (p.Asp398Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003063492]|Nephrolithiasis/nephrocalcinosis [RCV004070467] Chr3:122262228 [GRCh38]
Chr3:121981075 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2384G>A (p.Arg795Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002651731] Chr3:122284338 [GRCh38]
Chr3:122003185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2852C>G (p.Pro951Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002810059] Chr3:122284806 [GRCh38]
Chr3:122003653 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003047887] Chr3:122285121 [GRCh38]
Chr3:122003968 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1898T>A (p.Val633Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003044573] Chr3:122283852 [GRCh38]
Chr3:122002699 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1818G>A (p.Leu606=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003010280] Chr3:122283772 [GRCh38]
Chr3:122002619 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1198A>T (p.Asn400Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003031369] Chr3:122262233 [GRCh38]
Chr3:121981080 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002630131] Chr3:122262180 [GRCh38]
Chr3:121981027 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2904T>G (p.Phe968Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002721694] Chr3:122284858 [GRCh38]
Chr3:122003705 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.163C>T (p.Pro55Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003052285] Chr3:122254352 [GRCh38]
Chr3:121973199 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2535C>T (p.Ser845=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002942256] Chr3:122284489 [GRCh38]
Chr3:122003336 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3048G>A (p.Leu1016=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002943367] Chr3:122285002 [GRCh38]
Chr3:122003849 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1824G>C (p.Trp608Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002603107]|Nephrolithiasis/nephrocalcinosis [RCV004068928] Chr3:122283778 [GRCh38]
Chr3:122002625 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2963C>T (p.Ala988Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002585663] Chr3:122284917 [GRCh38]
Chr3:122003764 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1749C>T (p.Asn583=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003071596] Chr3:122283703 [GRCh38]
Chr3:122002550 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.665G>A (p.Gly222Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003072797] Chr3:122261700 [GRCh38]
Chr3:121980547 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2660C>A (p.Ala887Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003072798] Chr3:122284614 [GRCh38]
Chr3:122003461 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378-16C>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002585062] Chr3:122275796 [GRCh38]
Chr3:121994643 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1941C>T (p.Asn647=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002606846] Chr3:122283895 [GRCh38]
Chr3:122002742 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.318G>A (p.Lys106=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003092304] Chr3:122257213 [GRCh38]
Chr3:121976060 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1507del (p.Ile503fs) deletion Familial hypocalciuric hypercalcemia [RCV002582862] Chr3:122275941 [GRCh38]
Chr3:121994788 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1974G>A (p.Leu658=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003071204] Chr3:122283928 [GRCh38]
Chr3:122002775 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2253C>T (p.Tyr751=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002611248] Chr3:122284207 [GRCh38]
Chr3:122003054 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2369T>G (p.Phe790Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002611563] Chr3:122284323 [GRCh38]
Chr3:122003170 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.992G>T (p.Arg331Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002587246] Chr3:122262027 [GRCh38]
Chr3:121980874 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2690_2701dup (p.Ser900_Ser901insLysArgSerSer) duplication not provided [RCV004795135] Chr3:122284640..122284641 [GRCh38]
Chr3:122003487..122003488 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.443G>A (p.Gly148Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005221076]|not provided [RCV004792130] Chr3:122257338 [GRCh38]
Chr3:121976185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.500A>C (p.Tyr167Ser) single nucleotide variant not provided [RCV004792131] Chr3:122261535 [GRCh38]
Chr3:121980382 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.639_640delinsCC (p.Ala214Pro) indel not provided [RCV004792132] Chr3:122261674..122261675 [GRCh38]
Chr3:121980521..121980522 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.720T>A (p.Ser240Arg) single nucleotide variant not provided [RCV004792133] Chr3:122261755 [GRCh38]
Chr3:121980602 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2380T>A (p.Ser794Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005218329]|not provided [RCV004792134] Chr3:122284334 [GRCh38]
Chr3:122003181 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1742C>T (p.Ala581Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004788438]|Familial hypocalciuric hypercalcemia [RCV005218314] Chr3:122283696 [GRCh38]
Chr3:122002543 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003226670] Chr3:122283978 [GRCh38]
Chr3:122002825 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.738C>T (p.Tyr246=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002493937]|Familial hypocalciuric hypercalcemia [RCV001392169]|Hereditary cancer-predisposing syndrome [RCV002258225]|Nephrolithiasis/nephrocalcinosis [RCV004037717] Chr3:122261773 [GRCh38]
Chr3:121980620 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2046G>A (p.Pro682=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV002499824]|Familial hypocalciuric hypercalcemia [RCV001392176]|Nephrolithiasis/nephrocalcinosis [RCV004037718] Chr3:122284000 [GRCh38]
Chr3:122002847 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1806G>A (p.Glu602=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001504497]|Nephrolithiasis/nephrocalcinosis [RCV004037838] Chr3:122283760 [GRCh38]
Chr3:122002607 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1524C>T (p.Val508=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001447847]|Nephrolithiasis/nephrocalcinosis [RCV004038459]|not specified [RCV004782738] Chr3:122275958 [GRCh38]
Chr3:121994805 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1512G>A (p.Val504=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001411151]|Nephrolithiasis/nephrocalcinosis [RCV004038072] Chr3:122275946 [GRCh38]
Chr3:121994793 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1783del (p.His595fs) deletion Familial hypocalciuric hypercalcemia [RCV001383857] Chr3:122283736 [GRCh38]
Chr3:122002583 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) single nucleotide variant not provided [RCV001727264] Chr3:122261553 [GRCh38]
Chr3:121980400 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.1377+2T>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001732817] Chr3:122262414 [GRCh38]
Chr3:121981261 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV001861052]|not provided [RCV001756629] Chr3:122283822 [GRCh38]
Chr3:122002669 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.961_962del (p.Ala321fs) deletion Familial hypocalciuric hypercalcemia [RCV001941069] Chr3:122261995..122261996 [GRCh38]
Chr3:121980842..121980843 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3216A>G (p.Thr1072=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002164939]|Nephrolithiasis/nephrocalcinosis [RCV004045009] Chr3:122285170 [GRCh38]
Chr3:122004017 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+15_1732+16delinsAC indel Familial hypocalciuric hypercalcemia [RCV002107442] Chr3:122282251..122282252 [GRCh38]
Chr3:122001098..122001099 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.21C>T (p.Cys7=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002202656] Chr3:122254210 [GRCh38]
Chr3:121973057 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2961G>A (p.Met987Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003775426]|Nephrolithiasis/nephrocalcinosis [RCV004065367] Chr3:122284915 [GRCh38]
Chr3:122003762 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.884C>T (p.Ala295Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002838700] Chr3:122261919 [GRCh38]
Chr3:121980766 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186G>C (p.Arg62Ser) single nucleotide variant Neonatal severe primary hyperparathyroidism [RCV004820981] Chr3:122257081 [GRCh38]
Chr3:121975928 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2990C>T (p.Ser997Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003000156] Chr3:122284944 [GRCh38]
Chr3:122003791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1972C>T (p.Leu658=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002982941] Chr3:122283926 [GRCh38]
Chr3:122002773 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2852C>T (p.Pro951Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002593524] Chr3:122284806 [GRCh38]
Chr3:122003653 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1753T>A (p.Cys585Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003030348] Chr3:122283707 [GRCh38]
Chr3:122002554 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1259T>A (p.Val420Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003008413] Chr3:122262294 [GRCh38]
Chr3:121981141 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.25G>T (p.Val9Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002921996]|Nephrolithiasis/nephrocalcinosis [RCV004066289] Chr3:122254214 [GRCh38]
Chr3:121973061 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2397G>A (p.Glu799=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV002588755] Chr3:122284351 [GRCh38]
Chr3:122003198 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003778830]|not provided [RCV003144668] Chr3:122283797 [GRCh38]
Chr3:122002644 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del) microsatellite Familial hypocalciuric hypercalcemia [RCV003779515]|Nephrolithiasis/nephrocalcinosis [RCV004245048] Chr3:122284746..122284748 [GRCh38]
Chr3:122003593..122003595 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2550G>T (p.Ala850=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245049] Chr3:122284504 [GRCh38]
Chr3:122003351 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2718G>T (p.Thr906=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245055] Chr3:122284672 [GRCh38]
Chr3:122003519 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2930T>A (p.Leu977Gln) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245066] Chr3:122284884 [GRCh38]
Chr3:122003731 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1446T>C (p.Cys482=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245067] Chr3:122275880 [GRCh38]
Chr3:121994727 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1979G>A (p.Cys660Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245081] Chr3:122283933 [GRCh38]
Chr3:122002780 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2930T>G (p.Leu977Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245080] Chr3:122284884 [GRCh38]
Chr3:122003731 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2922C>T (p.Thr974=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245079] Chr3:122284876 [GRCh38]
Chr3:122003723 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2919C>A (p.Val973=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003779517]|Nephrolithiasis/nephrocalcinosis [RCV004245078] Chr3:122284873 [GRCh38]
Chr3:122003720 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2497G>A (p.Val833Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245077] Chr3:122284451 [GRCh38]
Chr3:122003298 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1723G>C (p.Asp575His) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246230] Chr3:122282227 [GRCh38]
Chr3:122001074 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2175C>T (p.Phe725=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245050] Chr3:122284129 [GRCh38]
Chr3:122002976 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1236G>C (p.Thr412=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245051] Chr3:122262271 [GRCh38]
Chr3:121981118 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.73C>A (p.Arg25=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245052] Chr3:122254262 [GRCh38]
Chr3:121973109 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.753G>A (p.Glu251=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245053] Chr3:122261788 [GRCh38]
Chr3:121980635 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2951A>T (p.Lys984Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245054] Chr3:122284905 [GRCh38]
Chr3:122003752 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2896G>A (p.Val966Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245058] Chr3:122284850 [GRCh38]
Chr3:122003697 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1444T>G (p.Cys482Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245059] Chr3:122275878 [GRCh38]
Chr3:121994725 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1443G>C (p.Glu481Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245060] Chr3:122275877 [GRCh38]
Chr3:121994724 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2299G>C (p.Glu767Gln) single nucleotide variant not provided [RCV003219104] Chr3:122284253 [GRCh38]
Chr3:122003100 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2999C>T (p.Ala1000Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245056] Chr3:122284953 [GRCh38]
Chr3:122003800 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2729C>A (p.Pro910His) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245057] Chr3:122284683 [GRCh38]
Chr3:122003530 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3130G>A (p.Val1044Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245061] Chr3:122285084 [GRCh38]
Chr3:122003931 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3153C>G (p.Ser1051=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245062] Chr3:122285107 [GRCh38]
Chr3:122003954 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1650C>A (p.Thr550=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245063] Chr3:122282154 [GRCh38]
Chr3:122001001 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1696G>A (p.Val566Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245064] Chr3:122282200 [GRCh38]
Chr3:122001047 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1798G>A (p.Ala600Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245065] Chr3:122283752 [GRCh38]
Chr3:122002599 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2091G>T (p.Val697=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245074] Chr3:122284045 [GRCh38]
Chr3:122002892 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.701A>T (p.Asp234Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245073] Chr3:122261736 [GRCh38]
Chr3:121980583 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1734T>C (p.Asp578=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245072] Chr3:122283688 [GRCh38]
Chr3:122002535 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2283C>A (p.Ile761=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245071] Chr3:122284237 [GRCh38]
Chr3:122003084 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1140T>C (p.Ser380=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245070] Chr3:122262175 [GRCh38]
Chr3:121981022 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1488C>T (p.Leu496=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245069] Chr3:122275922 [GRCh38]
Chr3:121994769 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1299T>C (p.Asp433=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246229] Chr3:122262334 [GRCh38]
Chr3:121981181 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1593T>C (p.Ser531=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246231] Chr3:122276027 [GRCh38]
Chr3:121994874 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1328T>G (p.Leu443Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246235] Chr3:122262363 [GRCh38]
Chr3:121981210 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2317C>G (p.Leu773Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004277333] Chr3:122284271 [GRCh38]
Chr3:122003118 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.406C>G (p.Pro136Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004275921] Chr3:122257301 [GRCh38]
Chr3:121976148 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2490C>A (p.Gly830=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003779638]|Nephrolithiasis/nephrocalcinosis [RCV004256436] Chr3:122284444 [GRCh38]
Chr3:122003291 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2527G>A (p.Ala843Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005227926]|Nephrolithiasis/nephrocalcinosis [RCV004245076] Chr3:122284481 [GRCh38]
Chr3:122003328 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003779516]|Nephrolithiasis/nephrocalcinosis [RCV004245075] Chr3:122262179 [GRCh38]
Chr3:121981026 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1396C>T (p.His466Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004245068]|not specified [RCV005061025] Chr3:122275830 [GRCh38]
Chr3:121994677 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3044C>T (p.Pro1015Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246233] Chr3:122284998 [GRCh38]
Chr3:122003845 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3017C>G (p.Thr1006Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246234] Chr3:122284971 [GRCh38]
Chr3:122003818 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.482A>G (p.Tyr161Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV004690401]|not provided [RCV003323116] Chr3:122257377 [GRCh38]
Chr3:121976224 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1161C>A (p.Ser387Arg) single nucleotide variant not specified [RCV003320997] Chr3:122262196 [GRCh38]
Chr3:121981043 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378-22C>T single nucleotide variant not specified [RCV003320998] Chr3:122275790 [GRCh38]
Chr3:121994637 [GRCh37]
Chr3:3q21.1		 likely benign
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_000388.4(CASR):c.2575A>G (p.Ile859Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792246] Chr3:122284529 [GRCh38]
Chr3:122003376 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3001C>T (p.Gln1001Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792284] Chr3:122284955 [GRCh38]
Chr3:122003802 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3120G>A (p.Gln1040=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792444] Chr3:122285074 [GRCh38]
Chr3:122003921 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003779226]|not provided [RCV003482647] Chr3:122284610 [GRCh38]
Chr3:122003457 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1970C>A (p.Ser657Tyr) single nucleotide variant not provided [RCV003480463] Chr3:122283924 [GRCh38]
Chr3:122002771 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2576T>C (p.Ile859Thr) single nucleotide variant not provided [RCV003481710] Chr3:122284530 [GRCh38]
Chr3:122003377 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003447819] Chr3:122283740 [GRCh38]
Chr3:122002587 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2114_2122del (p.Val705_Glu707del) deletion Familial hypocalciuric hypercalcemia [RCV003791883] Chr3:122284066..122284074 [GRCh38]
Chr3:122002913..122002921 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.488C>G (p.Pro163Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004797645]|not provided [RCV003482648] Chr3:122257383 [GRCh38]
Chr3:121976230 [GRCh37]
Chr3:3q21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000388.4(CASR):c.1733-2A>C single nucleotide variant CASR-related disorder [RCV004554903] Chr3:122283685 [GRCh38]
Chr3:122002532 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2089G>A (p.Val697Met) single nucleotide variant CASR-related disorder [RCV004554906] Chr3:122284043 [GRCh38]
Chr3:122002890 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2770_2777del (p.Phe924fs) deletion CASR-related disorder [RCV004554913]|Nephrolithiasis/nephrocalcinosis [RCV004604943] Chr3:122284722..122284729 [GRCh38]
Chr3:122003569..122003576 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.64C>T (p.Pro22Ser) single nucleotide variant CASR-related disorder [RCV004554912] Chr3:122254253 [GRCh38]
Chr3:121973100 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.303C>A (p.Cys101Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003404750] Chr3:122257198 [GRCh38]
Chr3:121976045 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.398A>T (p.Glu133Val) single nucleotide variant CASR-related disorder [RCV004554914] Chr3:122257293 [GRCh38]
Chr3:121976140 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.580G>T (p.Ala194Ser) single nucleotide variant CASR-related disorder [RCV004554904] Chr3:122261615 [GRCh38]
Chr3:121980462 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.354C>G (p.Asn118Lys) single nucleotide variant CASR-related disorder [RCV004554902] Chr3:122257249 [GRCh38]
Chr3:121976096 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.517C>T (p.Leu173Phe) single nucleotide variant CASR-related disorder [RCV004554901] Chr3:122261552 [GRCh38]
Chr3:121980399 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1973T>C (p.Leu658Pro) single nucleotide variant CASR-related disorder [RCV004554909] Chr3:122283927 [GRCh38]
Chr3:122002774 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1301_1306del (p.Ile434_Tyr435del) microsatellite CASR-related disorder [RCV004554911] Chr3:122262333..122262338 [GRCh38]
Chr3:121981180..121981185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.791C>G (p.Ala264Gly) single nucleotide variant not specified [RCV003404879] Chr3:122261826 [GRCh38]
Chr3:121980673 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.178T>C (p.Cys60Arg) single nucleotide variant CASR-related disorder [RCV004554898] Chr3:122254367 [GRCh38]
Chr3:121973214 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.462A>T (p.Ala154=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807157] Chr3:122257357 [GRCh38]
Chr3:121976204 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2846C>A (p.Thr949Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807507]|Nephrolithiasis/nephrocalcinosis [RCV004366666] Chr3:122284800 [GRCh38]
Chr3:122003647 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.269A>G (p.Asn90Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003784714] Chr3:122257164 [GRCh38]
Chr3:121976011 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805224] Chr3:122284833 [GRCh38]
Chr3:122003680 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.577C>A (p.Gln193Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807817] Chr3:122261612 [GRCh38]
Chr3:121980459 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs) deletion Familial hypocalciuric hypercalcemia [RCV003806348] Chr3:122283798..122283801 [GRCh38]
Chr3:122002645..122002648 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.302G>C (p.Cys101Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003797005] Chr3:122257197 [GRCh38]
Chr3:121976044 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782324] Chr3:122284493 [GRCh38]
Chr3:122003340 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2803C>T (p.Pro935Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787278]|not specified [RCV005240929] Chr3:122284757 [GRCh38]
Chr3:122003604 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2568G>A (p.Lys856=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787317] Chr3:122284522 [GRCh38]
Chr3:122003369 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807502] Chr3:122275828 [GRCh38]
Chr3:121994675 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2810C>T (p.Ala937Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003791434] Chr3:122284764 [GRCh38]
Chr3:122003611 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3100G>A (p.Gly1034Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003791637] Chr3:122285054 [GRCh38]
Chr3:122003901 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.363T>C (p.Asp121=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806849] Chr3:122257258 [GRCh38]
Chr3:121976105 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782709] Chr3:122284604 [GRCh38]
Chr3:122003451 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.26T>A (p.Val9Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806005] Chr3:122254215 [GRCh38]
Chr3:121973062 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2582T>C (p.Leu861Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781023] Chr3:122284536 [GRCh38]
Chr3:122003383 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2518del (p.Ala840fs) deletion Familial hypocalciuric hypercalcemia [RCV003806929] Chr3:122284472 [GRCh38]
Chr3:122003319 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.375TGA[1] (p.Asp126del) microsatellite Familial hypocalciuric hypercalcemia [RCV003785511] Chr3:122257270..122257272 [GRCh38]
Chr3:121976117..121976119 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3021G>T (p.Leu1007=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003784087] Chr3:122284975 [GRCh38]
Chr3:122003822 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2659G>A (p.Ala887Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805868] Chr3:122284613 [GRCh38]
Chr3:122003460 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1888G>T (p.Val630Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003794556] Chr3:122283842 [GRCh38]
Chr3:122002689 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805938]|Nephrolithiasis/nephrocalcinosis [RCV004366639] Chr3:122284843 [GRCh38]
Chr3:122003690 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2526G>T (p.Leu842=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787928] Chr3:122284480 [GRCh38]
Chr3:122003327 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.994del (p.Glu332fs) deletion Familial hypocalciuric hypercalcemia [RCV003783058] Chr3:122262027 [GRCh38]
Chr3:121980874 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.589A>C (p.Met197Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804758]|Nephrolithiasis/nephrocalcinosis [RCV004366663] Chr3:122261624 [GRCh38]
Chr3:121980471 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2993T>A (p.Leu998Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003783098] Chr3:122284947 [GRCh38]
Chr3:122003794 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+7G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806299] Chr3:122282243 [GRCh38]
Chr3:122001090 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1605G>T (p.Arg535Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003783111] Chr3:122276039 [GRCh38]
Chr3:121994886 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2749A>G (p.Lys917Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003797692] Chr3:122284703 [GRCh38]
Chr3:122003550 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808028] Chr3:122262099 [GRCh38]
Chr3:121980946 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1891C>T (p.Leu631=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003783223]|Nephrolithiasis/nephrocalcinosis [RCV004605032] Chr3:122283845 [GRCh38]
Chr3:122002692 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.660G>T (p.Arg220=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781781] Chr3:122261695 [GRCh38]
Chr3:121980542 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.741dup (p.Asp248Ter) duplication not provided [RCV003494279] Chr3:122261775..122261776 [GRCh38]
Chr3:121980622..121980623 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2628C>G (p.Thr876=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003784611]|Nephrolithiasis/nephrocalcinosis [RCV004605037] Chr3:122284582 [GRCh38]
Chr3:122003429 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2909G>A (p.Ser970Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805884] Chr3:122284863 [GRCh38]
Chr3:122003710 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1377G>T (p.Gln459His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003790851] Chr3:122262412 [GRCh38]
Chr3:121981259 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.971C>G (p.Ala324Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804593] Chr3:122262006 [GRCh38]
Chr3:121980853 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.715T>G (p.Phe239Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796370] Chr3:122261750 [GRCh38]
Chr3:121980597 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2109C>G (p.Leu703=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003788292] Chr3:122284063 [GRCh38]
Chr3:122002910 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2771T>C (p.Phe924Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804513] Chr3:122284725 [GRCh38]
Chr3:122003572 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2801A>C (p.Gln934Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003785416] Chr3:122284755 [GRCh38]
Chr3:122003602 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.110T>C (p.Leu37Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781009] Chr3:122254299 [GRCh38]
Chr3:121973146 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.652T>A (p.Tyr218Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781013] Chr3:122261687 [GRCh38]
Chr3:121980534 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.682G>C (p.Glu228Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781014] Chr3:122261717 [GRCh38]
Chr3:121980564 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781017] Chr3:122283774 [GRCh38]
Chr3:122002621 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2384G>C (p.Arg795Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781019] Chr3:122284338 [GRCh38]
Chr3:122003185 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1562T>C (p.Leu521Pro) single nucleotide variant not specified [RCV003489729] Chr3:122275996 [GRCh38]
Chr3:121994843 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2475T>C (p.Tyr825=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804041]|Nephrolithiasis/nephrocalcinosis [RCV004366647] Chr3:122284429 [GRCh38]
Chr3:122003276 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2949GAA[1] (p.Lys984del) microsatellite Familial hypocalciuric hypercalcemia [RCV003786091] Chr3:122284902..122284904 [GRCh38]
Chr3:122003749..122003751 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3086A>G (p.Glu1029Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003786864] Chr3:122285040 [GRCh38]
Chr3:122003887 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.791C>T (p.Ala264Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003791297] Chr3:122261826 [GRCh38]
Chr3:121980673 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.460G>A (p.Ala154Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003791307] Chr3:122257355 [GRCh38]
Chr3:121976202 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.910C>T (p.Leu304=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782069] Chr3:122261945 [GRCh38]
Chr3:121980792 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.114T>A (p.Phe38Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804169] Chr3:122254303 [GRCh38]
Chr3:121973150 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1483C>T (p.His495Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804275] Chr3:122275917 [GRCh38]
Chr3:121994764 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.450C>T (p.Ser150=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804811]|Nephrolithiasis/nephrocalcinosis [RCV004366664] Chr3:122257345 [GRCh38]
Chr3:121976192 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1232A>G (p.Tyr411Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795485] Chr3:122262267 [GRCh38]
Chr3:121981114 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2905G>A (p.Gly969Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792585] Chr3:122284859 [GRCh38]
Chr3:122003706 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1918A>G (p.Thr640Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003794110] Chr3:122283872 [GRCh38]
Chr3:122002719 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378-9C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805617] Chr3:122275803 [GRCh38]
Chr3:121994650 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.714C>T (p.Asp238=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003785094] Chr3:122261749 [GRCh38]
Chr3:121980596 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.797T>G (p.Val266Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787866] Chr3:122261832 [GRCh38]
Chr3:121980679 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2063T>C (p.Phe688Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806171] Chr3:122284017 [GRCh38]
Chr3:122002864 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1114dup (p.Thr372fs) duplication Familial hypocalciuric hypercalcemia [RCV003806402] Chr3:122262148..122262149 [GRCh38]
Chr3:121980995..121980996 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2770T>G (p.Phe924Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806403] Chr3:122284724 [GRCh38]
Chr3:122003571 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2291C>T (p.Thr764Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796589]|Nephrolithiasis/nephrocalcinosis [RCV004605043] Chr3:122284245 [GRCh38]
Chr3:122003092 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787963]|Nephrolithiasis/nephrocalcinosis [RCV004366502] Chr3:122275879 [GRCh38]
Chr3:121994726 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1493C>A (p.Pro498Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781617] Chr3:122275927 [GRCh38]
Chr3:121994774 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs) deletion Familial hypocalciuric hypercalcemia [RCV003805692] Chr3:122284842..122285665 [GRCh38]
Chr3:122003689..122004512 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2592A>G (p.Pro864=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796249] Chr3:122284546 [GRCh38]
Chr3:122003393 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.867G>T (p.Thr289=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795015] Chr3:122261902 [GRCh38]
Chr3:121980749 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.316A>G (p.Lys106Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003780065] Chr3:122257211 [GRCh38]
Chr3:121976058 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1941C>A (p.Asn647Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804809] Chr3:122283895 [GRCh38]
Chr3:122002742 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1486C>T (p.Leu496Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795049]|Nephrolithiasis/nephrocalcinosis [RCV004366630] Chr3:122275920 [GRCh38]
Chr3:121994767 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.905C>G (p.Ser302Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782477] Chr3:122261940 [GRCh38]
Chr3:121980787 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.489C>T (p.Pro163=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804400] Chr3:122257384 [GRCh38]
Chr3:121976231 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1464C>T (p.Asn488=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795120] Chr3:122275898 [GRCh38]
Chr3:121994745 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.402C>T (p.His134=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003790839]|Nephrolithiasis/nephrocalcinosis [RCV004366599] Chr3:122257297 [GRCh38]
Chr3:121976144 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1029C>A (p.Val343=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804903] Chr3:122262064 [GRCh38]
Chr3:121980911 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795124] Chr3:122284408 [GRCh38]
Chr3:122003255 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2100C>T (p.Asn700=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003785700] Chr3:122284054 [GRCh38]
Chr3:122002901 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.711C>T (p.Ile237=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003786469]|Nephrolithiasis/nephrocalcinosis [RCV004605034] Chr3:122261746 [GRCh38]
Chr3:121980593 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2211C>T (p.Val737=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805371] Chr3:122284165 [GRCh38]
Chr3:122003012 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2244del (p.Ser749fs) deletion Familial hypocalciuric hypercalcemia [RCV003794733] Chr3:122284198 [GRCh38]
Chr3:122003045 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795173] Chr3:122284145 [GRCh38]
Chr3:122002992 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2780C>T (p.Pro927Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795180] Chr3:122284734 [GRCh38]
Chr3:122003581 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1062A>G (p.Glu354=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796064]|Nephrolithiasis/nephrocalcinosis [RCV004605042] Chr3:122262097 [GRCh38]
Chr3:121980944 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.91G>C (p.Asp31His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807050] Chr3:122254280 [GRCh38]
Chr3:121973127 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3104C>A (p.Pro1035His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003786501] Chr3:122285058 [GRCh38]
Chr3:122003905 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.970G>C (p.Ala324Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003790229] Chr3:122262005 [GRCh38]
Chr3:121980852 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2979G>C (p.Thr993=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003788002] Chr3:122284933 [GRCh38]
Chr3:122003780 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.412A>G (p.Thr138Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003783991] Chr3:122257307 [GRCh38]
Chr3:121976154 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2505C>A (p.Ala835=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795717] Chr3:122284459 [GRCh38]
Chr3:122003306 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.244_247del (p.Asn82fs) deletion Familial hypocalciuric hypercalcemia [RCV003806973] Chr3:122257138..122257141 [GRCh38]
Chr3:121975985..121975988 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met) indel Familial hypocalciuric hypercalcemia [RCV003807374] Chr3:122284018..122284019 [GRCh38]
Chr3:122002865..122002866 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1701G>A (p.Glu567=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003786943] Chr3:122282205 [GRCh38]
Chr3:122001052 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.246C>G (p.Asn82Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781010] Chr3:122257141 [GRCh38]
Chr3:121975988 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.434C>T (p.Thr145Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781011] Chr3:122257329 [GRCh38]
Chr3:121976176 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.643G>A (p.Asp215Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805077] Chr3:122261678 [GRCh38]
Chr3:121980525 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.319G>A (p.Ala107Thr) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005030271]|Familial hypocalciuric hypercalcemia [RCV003796906] Chr3:122257214 [GRCh38]
Chr3:121976061 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796907] Chr3:122262332 [GRCh38]
Chr3:121981179 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781021] Chr3:122284484 [GRCh38]
Chr3:122003331 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1861G>C (p.Val621Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003790366] Chr3:122283815 [GRCh38]
Chr3:122002662 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2184T>A (p.Val728=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795354]|Nephrolithiasis/nephrocalcinosis [RCV004992840] Chr3:122284138 [GRCh38]
Chr3:122002985 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2096C>G (p.Thr699Ser) single nucleotide variant not specified [RCV003489614] Chr3:122284050 [GRCh38]
Chr3:122002897 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3199G>A (p.Gly1067Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003793726] Chr3:122285153 [GRCh38]
Chr3:122004000 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.826C>A (p.Leu276Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003805126] Chr3:122261861 [GRCh38]
Chr3:121980708 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.558C>A (p.Thr186=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003785093] Chr3:122261593 [GRCh38]
Chr3:121980440 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796232] Chr3:122262071 [GRCh38]
Chr3:121980918 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+16C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782073] Chr3:122276058 [GRCh38]
Chr3:121994905 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792373] Chr3:122283729 [GRCh38]
Chr3:122002576 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003789907] Chr3:122276008 [GRCh38]
Chr3:121994855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.672G>C (p.Glu224Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003790484] Chr3:122261707 [GRCh38]
Chr3:121980554 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.729C>G (p.Ile243Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795423] Chr3:122261764 [GRCh38]
Chr3:121980611 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003785627] Chr3:122283726 [GRCh38]
Chr3:122002573 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1443G>A (p.Glu481=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003806524]|Nephrolithiasis/nephrocalcinosis [RCV004614530] Chr3:122275877 [GRCh38]
Chr3:121994724 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1609-5T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003796731] Chr3:122282108 [GRCh38]
Chr3:122000955 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1149G>A (p.Arg383=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807333] Chr3:122262184 [GRCh38]
Chr3:121981031 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1671G>A (p.Gly557=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003807327] Chr3:122282175 [GRCh38]
Chr3:122001022 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1733-16C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003780648] Chr3:122283671 [GRCh38]
Chr3:122002518 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer) microsatellite Familial hypocalciuric hypercalcemia [RCV003782406]|Nephrolithiasis/nephrocalcinosis [RCV004366576] Chr3:122284695..122284696 [GRCh38]
Chr3:122003542..122003543 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1639C>T (p.Leu547=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792107]|Nephrolithiasis/nephrocalcinosis [RCV004605048] Chr3:122282143 [GRCh38]
Chr3:122000990 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.938T>C (p.Val313Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787236] Chr3:122261973 [GRCh38]
Chr3:121980820 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2248A>G (p.Ser750Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003789156] Chr3:122284202 [GRCh38]
Chr3:122003049 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.186-1G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003783439] Chr3:122257080 [GRCh38]
Chr3:121975927 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1506C>T (p.Ser502=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003791235]|Nephrolithiasis/nephrocalcinosis [RCV004605044] Chr3:122275940 [GRCh38]
Chr3:121994787 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.938T>A (p.Val313Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787284]|Nephrolithiasis/nephrocalcinosis [RCV004366561] Chr3:122261973 [GRCh38]
Chr3:121980820 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1109T>C (p.Val370Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003789294] Chr3:122262144 [GRCh38]
Chr3:121980991 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2409A>G (p.Glu803=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003804040] Chr3:122284363 [GRCh38]
Chr3:122003210 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1984T>G (p.Phe662Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792302] Chr3:122283938 [GRCh38]
Chr3:122002785 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+2T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003787797] Chr3:122257389 [GRCh38]
Chr3:121976236 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.850G>A (p.Val284Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003780166] Chr3:122261885 [GRCh38]
Chr3:121980732 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.95T>A (p.Ile32Asn) single nucleotide variant not provided [RCV003490539] Chr3:122254284 [GRCh38]
Chr3:121973131 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.569A>G (p.Asp190Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781012]|Familial hypocalciuric hypercalcemia [RCV004783110] Chr3:122261604 [GRCh38]
Chr3:121980451 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn) single nucleotide variant CASR-related disorder [RCV004554925]|Familial hypocalciuric hypercalcemia [RCV003781018] Chr3:122284236 [GRCh38]
Chr3:122003083 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1609G>C (p.Val537Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003782341] Chr3:122282113 [GRCh38]
Chr3:122000960 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2181G>A (p.Leu727=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003789682] Chr3:122284135 [GRCh38]
Chr3:122002982 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.71A>G (p.Gln24Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003786786]|Nephrolithiasis/nephrocalcinosis [RCV004366548] Chr3:122254260 [GRCh38]
Chr3:121973107 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2079A>C (p.Ser693=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003788291] Chr3:122284033 [GRCh38]
Chr3:122002880 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3089C>T (p.Thr1030Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003780409] Chr3:122285043 [GRCh38]
Chr3:122003890 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2470G>C (p.Ala824Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781020] Chr3:122284424 [GRCh38]
Chr3:122003271 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781022] Chr3:122284488 [GRCh38]
Chr3:122003335 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2618G>A (p.Arg873His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003781024] Chr3:122284572 [GRCh38]
Chr3:122003419 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.916G>C (p.Ala306Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813496]|not specified [RCV005419711] Chr3:122261951 [GRCh38]
Chr3:121980798 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.446T>C (p.Val149Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809176] Chr3:122257341 [GRCh38]
Chr3:121976188 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+4C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810204] Chr3:122257391 [GRCh38]
Chr3:121976238 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.820C>G (p.Pro274Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810263] Chr3:122261855 [GRCh38]
Chr3:121980702 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.328G>C (p.Ala110Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808144] Chr3:122257223 [GRCh38]
Chr3:121976070 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.994G>A (p.Glu332Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800060] Chr3:122262029 [GRCh38]
Chr3:121980876 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2366T>C (p.Phe789Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810320] Chr3:122284320 [GRCh38]
Chr3:122003167 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2095A>C (p.Thr699Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810418] Chr3:122284049 [GRCh38]
Chr3:122002896 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.721del (p.Glu241fs) deletion Familial hypocalciuric hypercalcemia [RCV003801422] Chr3:122261756 [GRCh38]
Chr3:121980603 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.706T>A (p.Cys236Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800354] Chr3:122261741 [GRCh38]
Chr3:121980588 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.97_98del (p.Ile33fs) deletion Familial hypocalciuric hypercalcemia [RCV003800431] Chr3:122254285..122254286 [GRCh38]
Chr3:121973132..121973133 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1395G>C (p.Arg465=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808555] Chr3:122275829 [GRCh38]
Chr3:121994676 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.193T>A (p.Phe65Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810615] Chr3:122257088 [GRCh38]
Chr3:121975935 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2549C>T (p.Ala850Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812846] Chr3:122284503 [GRCh38]
Chr3:122003350 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser) indel Familial hypocalciuric hypercalcemia [RCV003809696] Chr3:122284000..122284001 [GRCh38]
Chr3:122002847..122002848 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2324T>C (p.Phe775Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812932] Chr3:122284278 [GRCh38]
Chr3:122003125 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.919A>G (p.Met307Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813428]|Nephrolithiasis/nephrocalcinosis [RCV004366690] Chr3:122261954 [GRCh38]
Chr3:121980801 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2513T>C (p.Val838Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808785] Chr3:122284467 [GRCh38]
Chr3:122003314 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2346G>C (p.Leu782=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813047] Chr3:122284300 [GRCh38]
Chr3:122003147 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1164G>T (p.Ser388=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003799641] Chr3:122262199 [GRCh38]
Chr3:121981046 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.186-15T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003798609] Chr3:122257066 [GRCh38]
Chr3:121975913 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809924] Chr3:122284334 [GRCh38]
Chr3:122003181 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2282T>C (p.Ile761Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812508] Chr3:122284236 [GRCh38]
Chr3:122003083 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1755C>G (p.Cys585Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813579] Chr3:122283709 [GRCh38]
Chr3:122002556 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813634] Chr3:122262083 [GRCh38]
Chr3:121980930 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1198A>G (p.Asn400Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003801878] Chr3:122262233 [GRCh38]
Chr3:121981080 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1916A>T (p.Asn639Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815235] Chr3:122283870 [GRCh38]
Chr3:122002717 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln) microsatellite Familial hypocalciuric hypercalcemia [RCV003799472] Chr3:122284778..122284779 [GRCh38]
Chr3:122003625..122003626 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808652]|Nephrolithiasis/nephrocalcinosis [RCV004366642] Chr3:122285006 [GRCh38]
Chr3:122003853 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1071C>T (p.Asn357=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809223] Chr3:122262106 [GRCh38]
Chr3:121980953 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.906C>A (p.Ser302=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810205] Chr3:122261941 [GRCh38]
Chr3:121980788 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.213A>G (p.Leu71=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815395] Chr3:122257108 [GRCh38]
Chr3:121975955 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs) insertion Familial hypocalciuric hypercalcemia [RCV003815642] Chr3:122262322..122262323 [GRCh38]
Chr3:121981169..121981170 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3222C>T (p.Asn1074=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003797910] Chr3:122285176 [GRCh38]
Chr3:122004023 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2049C>A (p.Ala683=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800680] Chr3:122284003 [GRCh38]
Chr3:122002850 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.142G>A (p.Asp48Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812526] Chr3:122254331 [GRCh38]
Chr3:121973178 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.869G>A (p.Gly290Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812588] Chr3:122261904 [GRCh38]
Chr3:121980751 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808861] Chr3:122262339 [GRCh38]
Chr3:121981186 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2288T>G (p.Ile763Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003810448] Chr3:122284242 [GRCh38]
Chr3:122003089 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.88G>C (p.Gly30Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003801762] Chr3:122254277 [GRCh38]
Chr3:121973124 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly) indel Familial hypocalciuric hypercalcemia [RCV003809454] Chr3:122254204..122254205 [GRCh38]
Chr3:121973051..121973052 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+2T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800841] Chr3:122276044 [GRCh38]
Chr3:121994891 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2287A>C (p.Ile763Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809981]|Nephrolithiasis/nephrocalcinosis [RCV004366667] Chr3:122284241 [GRCh38]
Chr3:122003088 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+11G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808969] Chr3:122254385 [GRCh38]
Chr3:121973232 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.413C>G (p.Thr138Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809543] Chr3:122257308 [GRCh38]
Chr3:121976155 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003817699] Chr3:122282186 [GRCh38]
Chr3:122001033 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.329C>T (p.Ala110Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808459] Chr3:122257224 [GRCh38]
Chr3:121976071 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2506G>A (p.Val836Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003798803] Chr3:122284460 [GRCh38]
Chr3:122003307 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+20C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809045] Chr3:122254394 [GRCh38]
Chr3:121973241 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1377+20A>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003801971] Chr3:122262432 [GRCh38]
Chr3:121981279 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003801580] Chr3:122282215 [GRCh38]
Chr3:122001062 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185G>A (p.Arg62Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003801608] Chr3:122254374 [GRCh38]
Chr3:121973221 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2185T>C (p.Phe729Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003817673] Chr3:122284139 [GRCh38]
Chr3:122002986 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+15C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003798082] Chr3:122254389 [GRCh38]
Chr3:121973236 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1127G>A (p.Gly376Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809536] Chr3:122262162 [GRCh38]
Chr3:121981009 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.511A>G (p.Ser171Gly) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984427]|Familial hypocalciuric hypercalcemia [RCV003808527] Chr3:122261546 [GRCh38]
Chr3:121980393 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809618]|Nephrolithiasis/nephrocalcinosis [RCV004366659] Chr3:122284952 [GRCh38]
Chr3:122003799 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.352A>G (p.Asn118Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809645] Chr3:122257247 [GRCh38]
Chr3:121976094 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.513C>T (p.Ser171=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800588] Chr3:122261548 [GRCh38]
Chr3:121980395 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.551T>G (p.Leu184Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812280] Chr3:122261586 [GRCh38]
Chr3:121980433 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815356] Chr3:122285157 [GRCh38]
Chr3:122004004 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.411T>C (p.Ser137=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815371] Chr3:122257306 [GRCh38]
Chr3:121976153 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.457G>A (p.Val153Met) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003812649] Chr3:122257352 [GRCh38]
Chr3:121976199 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.832C>G (p.Pro278Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815438] Chr3:122261867 [GRCh38]
Chr3:121980714 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815447] Chr3:122283783 [GRCh38]
Chr3:122002630 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1108G>C (p.Val370Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815486] Chr3:122262143 [GRCh38]
Chr3:121980990 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1124G>C (p.Arg375Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809980] Chr3:122262159 [GRCh38]
Chr3:121981006 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3033G>A (p.Glu1011=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809046]|Nephrolithiasis/nephrocalcinosis [RCV004992862] Chr3:122284987 [GRCh38]
Chr3:122003834 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.185+1G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800980] Chr3:122254375 [GRCh38]
Chr3:121973222 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1884C>T (p.Ala628=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003798324]|Nephrolithiasis/nephrocalcinosis [RCV005311067] Chr3:122283838 [GRCh38]
Chr3:122002685 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2702G>A (p.Ser901Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809179] Chr3:122284656 [GRCh38]
Chr3:122003503 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2853A>G (p.Pro951=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808154]|Nephrolithiasis/nephrocalcinosis [RCV004366636] Chr3:122284807 [GRCh38]
Chr3:122003654 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.497G>A (p.Ser166Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815425]|not specified [RCV005240937] Chr3:122261532 [GRCh38]
Chr3:121980379 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003809331] Chr3:122262138 [GRCh38]
Chr3:121980985 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.661C>T (p.Pro221Ser) single nucleotide variant Autosomal dominant hypocalcemia [RCV003994928] Chr3:122261696 [GRCh38]
Chr3:121980543 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2326C>T (p.Leu776=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003798144] Chr3:122284280 [GRCh38]
Chr3:122003127 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del) microsatellite Familial hypocalciuric hypercalcemia [RCV003810417] Chr3:122283741..122283743 [GRCh38]
Chr3:122002588..122002590 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1606G>A (p.Glu536Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003808348] Chr3:122276040 [GRCh38]
Chr3:121994887 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813032] Chr3:122262378 [GRCh38]
Chr3:121981225 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.977A>T (p.Gln326Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003799357] Chr3:122262012 [GRCh38]
Chr3:121980859 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2983C>A (p.Gln995Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800908] Chr3:122284937 [GRCh38]
Chr3:122003784 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.621del (p.Trp208fs) deletion Familial hypocalciuric hypercalcemia [RCV003800899] Chr3:122261656 [GRCh38]
Chr3:121980503 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813048]|Nephrolithiasis/nephrocalcinosis [RCV004366688] Chr3:122262389 [GRCh38]
Chr3:121981236 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2631A>C (p.Ala877=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813379] Chr3:122284585 [GRCh38]
Chr3:122003432 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.209G>C (p.Trp70Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003813556] Chr3:122257104 [GRCh38]
Chr3:121975951 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003800323] Chr3:122283715 [GRCh38]
Chr3:122002562 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003803400] Chr3:122257084 [GRCh38]
Chr3:121975931 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1609-7C>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003803727] Chr3:122282106 [GRCh38]
Chr3:122000953 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802798] Chr3:122283896 [GRCh38]
Chr3:122002743 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3034C>G (p.Pro1012Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802797] Chr3:122284988 [GRCh38]
Chr3:122003835 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2652T>G (p.Ala884=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802549] Chr3:122284606 [GRCh38]
Chr3:122003453 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1608+7G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802186] Chr3:122276049 [GRCh38]
Chr3:121994896 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.238G>C (p.Glu80Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003803139] Chr3:122257133 [GRCh38]
Chr3:121975980 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.878G>A (p.Trp293Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802771] Chr3:122261913 [GRCh38]
Chr3:121980760 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.521T>C (p.Leu174Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005030275]|Familial hypocalciuric hypercalcemia [RCV003802103] Chr3:122261556 [GRCh38]
Chr3:121980403 [GRCh37]
Chr3:3q21.1		 uncertain significance
GRCh37/hg19 3q21.1(chr3:121969936-122063811)x3 copy number gain not specified [RCV003986436] Chr3:121969936..122063811 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2484C>A (p.Thr828=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802981] Chr3:122284438 [GRCh38]
Chr3:122003285 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2281A>C (p.Ile761Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802517] Chr3:122284235 [GRCh38]
Chr3:122003082 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2658G>T (p.Arg886=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802550] Chr3:122284612 [GRCh38]
Chr3:122003459 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003802056] Chr3:122262390 [GRCh38]
Chr3:121981237 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003803878] Chr3:122284976 [GRCh38]
Chr3:122003823 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2113_2115del (p.Val705del) deletion Familial hypocalciuric hypercalcemia 1 [RCV003984454] Chr3:122284065..122284067 [GRCh38]
Chr3:122002912..122002914 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1711G>T (p.Gly571Trp) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984455] Chr3:122282215 [GRCh38]
Chr3:122001062 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2525T>C (p.Leu842Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984457] Chr3:122284479 [GRCh38]
Chr3:122003326 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1906A>T (p.Lys636Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984461] Chr3:122283860 [GRCh38]
Chr3:122002707 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1465T>C (p.Tyr489His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984462] Chr3:122275899 [GRCh38]
Chr3:121994746 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.254C>T (p.Pro85Leu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003984459] Chr3:122257149 [GRCh38]
Chr3:121975996 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2912_2913delinsTT (p.Gly971Val) indel Familial hypocalciuric hypercalcemia 1 [RCV003984460] Chr3:122284866..122284867 [GRCh38]
Chr3:122003713..122003714 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2639C>T (p.Ala880Val) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004527280] Chr3:122284593 [GRCh38]
Chr3:122003440 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.611dup (p.Arg205fs) duplication Familial hypocalciuric hypercalcemia 1 [RCV004515747] Chr3:122261643..122261644 [GRCh38]
Chr3:121980490..121980491 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.158C>G (p.Ser53Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003994927] Chr3:122254347 [GRCh38]
Chr3:121973194 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.*9_*11del deletion CASR-related disorder [RCV004554960] Chr3:122285198..122285200 [GRCh38]
Chr3:122004045..122004047 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2013G>C (p.Glu671Asp) single nucleotide variant not provided [RCV004546928] Chr3:122283967 [GRCh38]
Chr3:122002814 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2627C>A (p.Thr876Asn) single nucleotide variant CASR-related disorder [RCV004554929] Chr3:122284581 [GRCh38]
Chr3:122003428 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1378-21T>C single nucleotide variant CASR-related disorder [RCV004554966] Chr3:122275791 [GRCh38]
Chr3:121994638 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1119T>C (p.Phe373=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525559] Chr3:122262154 [GRCh38]
Chr3:121981001 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1218C>A (p.Thr406=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525561] Chr3:122262253 [GRCh38]
Chr3:121981100 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1296A>G (p.Gln432=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525566] Chr3:122262331 [GRCh38]
Chr3:121981178 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1335C>A (p.Thr445=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525569] Chr3:122262370 [GRCh38]
Chr3:121981217 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1342T>A (p.Ser448Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525570] Chr3:122262377 [GRCh38]
Chr3:121981224 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1667A>G (p.Glu556Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525579] Chr3:122282171 [GRCh38]
Chr3:122001018 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.174G>A (p.Val58=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525581] Chr3:122254363 [GRCh38]
Chr3:121973210 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1804G>C (p.Glu602Gln) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525582] Chr3:122283758 [GRCh38]
Chr3:122002605 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1811A>C (p.Glu604Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525583] Chr3:122283765 [GRCh38]
Chr3:122002612 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1858G>T (p.Ala620Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525588] Chr3:122283812 [GRCh38]
Chr3:122002659 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1871T>C (p.Ile624Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525589] Chr3:122283825 [GRCh38]
Chr3:122002672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2083A>C (p.Ile695Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525596] Chr3:122284037 [GRCh38]
Chr3:122002884 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2156G>C (p.Trp719Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525600] Chr3:122284110 [GRCh38]
Chr3:122002957 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2341T>G (p.Cys781Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525607] Chr3:122284295 [GRCh38]
Chr3:122003142 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2582T>A (p.Leu861His) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525617] Chr3:122284536 [GRCh38]
Chr3:122003383 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.261T>C (p.Leu87=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525618] Chr3:122257156 [GRCh38]
Chr3:121976003 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2782G>C (p.Glu928Gln) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525626] Chr3:122284736 [GRCh38]
Chr3:122003583 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2870A>C (p.Gln957Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525630] Chr3:122284824 [GRCh38]
Chr3:122003671 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2885G>A (p.Cys962Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220943]|Nephrolithiasis/nephrocalcinosis [RCV004525631] Chr3:122284839 [GRCh38]
Chr3:122003686 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.288G>T (p.Arg96Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525632] Chr3:122257183 [GRCh38]
Chr3:121976030 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2965C>T (p.His989Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525635] Chr3:122284919 [GRCh38]
Chr3:122003766 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.-2C>T single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525637] Chr3:122254188 [GRCh38]
Chr3:121973035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3057G>A (p.Gly1019=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525639] Chr3:122285011 [GRCh38]
Chr3:122003858 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.498T>C (p.Ser166=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525648] Chr3:122261533 [GRCh38]
Chr3:121980380 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.523A>T (p.Ser175Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525649] Chr3:122261558 [GRCh38]
Chr3:121980405 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.530A>G (p.Lys177Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525650] Chr3:122261565 [GRCh38]
Chr3:121980412 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.630C>A (p.Gly210=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525654] Chr3:122261665 [GRCh38]
Chr3:121980512 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.790G>A (p.Ala264Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525659] Chr3:122261825 [GRCh38]
Chr3:121980672 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.888C>G (p.Ser296Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005216250]|Nephrolithiasis/nephrocalcinosis [RCV004525665] Chr3:122261923 [GRCh38]
Chr3:121980770 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1441G>A (p.Glu481Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004429989] Chr3:122275875 [GRCh38]
Chr3:121994722 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1261T>G (p.Tyr421Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525563] Chr3:122262296 [GRCh38]
Chr3:121981143 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1353C>T (p.Asp451=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525571] Chr3:122262388 [GRCh38]
Chr3:121981235 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1378-5T>C single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525572] Chr3:122275807 [GRCh38]
Chr3:121994654 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1821G>T (p.Ser607=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525584] Chr3:122283775 [GRCh38]
Chr3:122002622 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2019G>A (p.Gln673=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525594] Chr3:122283973 [GRCh38]
Chr3:122002820 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2086C>A (p.Leu696Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525597] Chr3:122284040 [GRCh38]
Chr3:122002887 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2133C>T (p.Pro711=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525599] Chr3:122284087 [GRCh38]
Chr3:122002934 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2203C>G (p.Gln735Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525602] Chr3:122284157 [GRCh38]
Chr3:122003004 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2370T>C (p.Phe790=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525609] Chr3:122284324 [GRCh38]
Chr3:122003171 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2372C>T (p.Ala791Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525610] Chr3:122284326 [GRCh38]
Chr3:122003173 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2436C>T (p.Leu812=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525611] Chr3:122284390 [GRCh38]
Chr3:122003237 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2499C>G (p.Val833=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525613] Chr3:122284453 [GRCh38]
Chr3:122003300 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.255A>G (p.Pro85=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525616] Chr3:122257150 [GRCh38]
Chr3:121975997 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2867C>T (p.Ser956Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525629] Chr3:122284821 [GRCh38]
Chr3:122003668 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3118C>A (p.Gln1040Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525643] Chr3:122285072 [GRCh38]
Chr3:122003919 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.820C>A (p.Pro274Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525661] Chr3:122261855 [GRCh38]
Chr3:121980702 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.901A>T (p.Ser301Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525666] Chr3:122261936 [GRCh38]
Chr3:121980783 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.976C>T (p.Gln326Ter) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525670] Chr3:122262011 [GRCh38]
Chr3:121980858 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1245G>A (p.Arg415=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525562] Chr3:122262280 [GRCh38]
Chr3:121981127 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2022C>T (p.Asp674=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525595] Chr3:122283976 [GRCh38]
Chr3:122002823 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2104G>C (p.Val702Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525598] Chr3:122284058 [GRCh38]
Chr3:122002905 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2238G>C (p.Ala746=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525604] Chr3:122284192 [GRCh38]
Chr3:122003039 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2277G>A (p.Glu759=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525605] Chr3:122284231 [GRCh38]
Chr3:122003078 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2287A>T (p.Ile763Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525606] Chr3:122284241 [GRCh38]
Chr3:122003088 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2811C>T (p.Ala937=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525627] Chr3:122284765 [GRCh38]
Chr3:122003612 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2817C>G (p.Thr939=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525628] Chr3:122284771 [GRCh38]
Chr3:122003618 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3108G>A (p.Val1036=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525641] Chr3:122285062 [GRCh38]
Chr3:122003909 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.-5G>A single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525652] Chr3:122254185 [GRCh38]
Chr3:121973032 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.621C>A (p.Asn207Lys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525653] Chr3:122261656 [GRCh38]
Chr3:121980503 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.651C>T (p.Asp217=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525655] Chr3:122261686 [GRCh38]
Chr3:121980533 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.91G>A (p.Asp31Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525668] Chr3:122254280 [GRCh38]
Chr3:121973127 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1058A>G (p.Glu353Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525556] Chr3:122262093 [GRCh38]
Chr3:121980940 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.109C>T (p.Leu37Phe) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525558] Chr3:122254298 [GRCh38]
Chr3:121973145 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1176A>G (p.Arg392=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525560] Chr3:122262211 [GRCh38]
Chr3:121981058 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1266A>G (p.Leu422=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525564] Chr3:122262301 [GRCh38]
Chr3:121981148 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1313T>C (p.Leu438Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525568] Chr3:122262348 [GRCh38]
Chr3:121981195 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1510G>T (p.Val504Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525574] Chr3:122275944 [GRCh38]
Chr3:121994791 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1533C>T (p.Tyr511=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525575] Chr3:122275967 [GRCh38]
Chr3:121994814 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1545C>T (p.Ala515=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525576] Chr3:122275979 [GRCh38]
Chr3:121994826 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1547A>G (p.Lys516Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525577] Chr3:122275981 [GRCh38]
Chr3:121994828 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1848C>T (p.Leu616=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525587] Chr3:122283802 [GRCh38]
Chr3:122002649 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1883C>T (p.Ala628Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525591] Chr3:122283837 [GRCh38]
Chr3:122002684 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1924A>C (p.Ile642Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525592] Chr3:122283878 [GRCh38]
Chr3:122002725 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.235G>C (p.Glu79Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023559]|Nephrolithiasis/nephrocalcinosis [RCV004525608] Chr3:122257130 [GRCh38]
Chr3:121975977 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2700C>T (p.Ser900=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525620] Chr3:122284654 [GRCh38]
Chr3:122003501 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2705T>C (p.Leu902Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525621] Chr3:122284659 [GRCh38]
Chr3:122003506 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2751G>C (p.Lys917Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525624] Chr3:122284705 [GRCh38]
Chr3:122003552 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3117C>G (p.Asp1039Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525642] Chr3:122285071 [GRCh38]
Chr3:122003918 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3158C>T (p.Ala1053Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525644] Chr3:122285112 [GRCh38]
Chr3:122003959 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2234C>T (p.Thr745Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525603] Chr3:122284188 [GRCh38]
Chr3:122003035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2524C>A (p.Leu842Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525614] Chr3:122284478 [GRCh38]
Chr3:122003325 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2545C>G (p.Leu849Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525615] Chr3:122284499 [GRCh38]
Chr3:122003346 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2727C>A (p.Thr909=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525623] Chr3:122284681 [GRCh38]
Chr3:122003528 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2756A>G (p.Asn919Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525625] Chr3:122284710 [GRCh38]
Chr3:122003557 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3101G>T (p.Gly1034Val) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525640] Chr3:122285055 [GRCh38]
Chr3:122003902 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.326A>G (p.Glu109Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525646] Chr3:122257221 [GRCh38]
Chr3:121976068 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.84G>C (p.Lys28Asn) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525662] Chr3:122254273 [GRCh38]
Chr3:121973120 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.861T>C (p.Asn287=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525663] Chr3:122261896 [GRCh38]
Chr3:121980743 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.937G>C (p.Val313Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525669] Chr3:122261972 [GRCh38]
Chr3:121980819 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1267G>T (p.Ala423Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004429988] Chr3:122262302 [GRCh38]
Chr3:121981149 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1295A>C (p.Gln432Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525565] Chr3:122262330 [GRCh38]
Chr3:121981177 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.12T>C (p.Tyr4=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525567] Chr3:122254201 [GRCh38]
Chr3:121973048 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1594G>A (p.Gly532Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525578] Chr3:122276028 [GRCh38]
Chr3:121994875 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1712G>C (p.Gly571Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525580] Chr3:122282216 [GRCh38]
Chr3:122001063 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1827G>C (p.Thr609=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525585] Chr3:122283781 [GRCh38]
Chr3:122002628 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.105G>C (p.Gly35=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525557] Chr3:122254294 [GRCh38]
Chr3:121973141 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1383G>A (p.Leu461=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525573] Chr3:122275817 [GRCh38]
Chr3:121994664 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1836T>C (p.Phe612=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525586] Chr3:122283790 [GRCh38]
Chr3:122002637 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1954T>C (p.Tyr652His) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525593] Chr3:122283908 [GRCh38]
Chr3:122002755 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2167C>A (p.Leu723Met) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525601] Chr3:122284121 [GRCh38]
Chr3:122002968 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2644A>G (p.Lys882Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525619] Chr3:122284598 [GRCh38]
Chr3:122003445 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2708G>A (p.Gly903Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525622] Chr3:122284662 [GRCh38]
Chr3:122003509 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2941G>A (p.Glu981Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220944]|Nephrolithiasis/nephrocalcinosis [RCV004525634] Chr3:122284895 [GRCh38]
Chr3:122003742 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2982C>G (p.His994Gln) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525636] Chr3:122284936 [GRCh38]
Chr3:122003783 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.59A>G (p.Tyr20Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525651] Chr3:122254248 [GRCh38]
Chr3:121973095 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.876C>A (p.Ile292=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525664] Chr3:122261911 [GRCh38]
Chr3:121980758 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2933G>C (p.Ser978Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525633] Chr3:122284887 [GRCh38]
Chr3:122003734 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3045G>T (p.Pro1015=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525638] Chr3:122284999 [GRCh38]
Chr3:122003846 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.719G>C (p.Ser240Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005216249]|Nephrolithiasis/nephrocalcinosis [RCV004525657] Chr3:122261754 [GRCh38]
Chr3:121980601 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.902G>T (p.Ser301Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220945]|Nephrolithiasis/nephrocalcinosis [RCV004525667] Chr3:122261937 [GRCh38]
Chr3:121980784 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.998T>C (p.Phe333Ser) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525671] Chr3:122262033 [GRCh38]
Chr3:121980880 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.141A>G (p.Lys47=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601057] Chr3:122254330 [GRCh38]
Chr3:121973177 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.121C>G (p.His41Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601070] Chr3:122254310 [GRCh38]
Chr3:121973157 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2970G>A (p.Arg990=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601071] Chr3:122284924 [GRCh38]
Chr3:122003771 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2916G>C (p.Thr972=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601074] Chr3:122284870 [GRCh38]
Chr3:122003717 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1965C>T (p.Leu655=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004607343] Chr3:122283919 [GRCh38]
Chr3:122002766 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2502T>C (p.Ser834=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004607344] Chr3:122284456 [GRCh38]
Chr3:122003303 [GRCh37]
Chr3:3q21.1		 likely benign
NC_000003.11:g.(?_121980355)_(121981279_?)del deletion Familial hypocalciuric hypercalcemia [RCV004582164] Chr3:121980355..121981279 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2847C>A (p.Thr949=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601056] Chr3:122284801 [GRCh38]
Chr3:122003648 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1641G>T (p.Leu547=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601058] Chr3:122282145 [GRCh38]
Chr3:122000992 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1101T>C (p.Pro367=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601065] Chr3:122262136 [GRCh38]
Chr3:121980983 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3162T>C (p.Leu1054=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601076] Chr3:122285116 [GRCh38]
Chr3:122003963 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2720G>C (p.Gly907Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601051] Chr3:122284674 [GRCh38]
Chr3:122003521 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1770G>C (p.Trp590Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601052] Chr3:122283724 [GRCh38]
Chr3:122002571 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.800T>C (p.Ile267Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601054] Chr3:122261835 [GRCh38]
Chr3:121980682 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1639C>A (p.Leu547Met) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023599]|Nephrolithiasis/nephrocalcinosis [RCV004601059] Chr3:122282143 [GRCh38]
Chr3:122000990 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2383C>A (p.Arg795=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601063] Chr3:122284337 [GRCh38]
Chr3:122003184 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1738_1743del (p.Ser580_Ala581del) deletion Familial hypocalciuric hypercalcemia [RCV005220965]|Nephrolithiasis/nephrocalcinosis [RCV004601066] Chr3:122283688..122283693 [GRCh38]
Chr3:122002535..122002540 [GRCh37]
Chr3:3q21.1		 pathogenic|uncertain significance
NM_000388.4(CASR):c.1159A>T (p.Ser387Cys) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601067] Chr3:122262194 [GRCh38]
Chr3:121981041 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.69C>A (p.Asp23Glu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601072] Chr3:122254258 [GRCh38]
Chr3:121973105 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2504C>A (p.Ala835Asp) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601078] Chr3:122284458 [GRCh38]
Chr3:122003305 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.321C>G (p.Ala107=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601064] Chr3:122257216 [GRCh38]
Chr3:121976063 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.468G>T (p.Leu156=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601073] Chr3:122257363 [GRCh38]
Chr3:121976210 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2892G>A (p.Gln964=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601055] Chr3:122284846 [GRCh38]
Chr3:122003693 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2102G>T (p.Arg701Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601077] Chr3:122284056 [GRCh38]
Chr3:122002903 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1703G>T (p.Cys568Phe) single nucleotide variant not specified [RCV004690671] Chr3:122282207 [GRCh38]
Chr3:122001054 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.93C>T (p.Asp31=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601069] Chr3:122254282 [GRCh38]
Chr3:121973129 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.4G>A (p.Ala2Thr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601075] Chr3:122254193 [GRCh38]
Chr3:121973040 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.393C>T (p.Cys131=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601060] Chr3:122257288 [GRCh38]
Chr3:121976135 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.702T>C (p.Asp234=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004601068] Chr3:122261737 [GRCh38]
Chr3:121980584 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1659del (p.Ile554fs) deletion not provided [RCV004791142] Chr3:122282161 [GRCh38]
Chr3:122001008 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1694G>T (p.Cys565Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005221082]|not provided [RCV004791143] Chr3:122282198 [GRCh38]
Chr3:122001045 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.1295A>G (p.Gln432Arg) single nucleotide variant not specified [RCV004800889] Chr3:122262330 [GRCh38]
Chr3:121981177 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2232C>A (p.Tyr744Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV004703147] Chr3:122284186 [GRCh38]
Chr3:122003033 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1583T>A (p.Ile528Asn) single nucleotide variant not provided [RCV004761692] Chr3:122276017 [GRCh38]
Chr3:121994864 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.395C>A (p.Ser132Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV004795767] Chr3:122257290 [GRCh38]
Chr3:121976137 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1366G>T (p.Glu456Ter) single nucleotide variant CASR-related disorder [RCV004732337] Chr3:122262401 [GRCh38]
Chr3:121981248 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2320G>C (p.Gly774Arg) single nucleotide variant not provided [RCV004759974] Chr3:122284274 [GRCh38]
Chr3:122003121 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2523C>A (p.Ile841=) single nucleotide variant not specified [RCV004703010] Chr3:122284477 [GRCh38]
Chr3:122003324 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.240G>A (p.Glu80=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994983] Chr3:122257135 [GRCh38]
Chr3:121975982 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.794A>G (p.Lys265Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004246232] Chr3:122261829 [GRCh38]
Chr3:121980676 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.350A>G (p.Gln117Arg) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV003360711] Chr3:122257245 [GRCh38]
Chr3:121976092 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.518T>A (p.Leu173His) single nucleotide variant not specified [RCV003331962] Chr3:122261553 [GRCh38]
Chr3:121980400 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1733A>T (p.Asp578Val) single nucleotide variant CASR-related disorder [RCV004554897]|Nephrolithiasis/nephrocalcinosis [RCV003370755] Chr3:122283687 [GRCh38]
Chr3:122002534 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1268_1270del (p.Ala423del) deletion Familial hypocalciuric hypercalcemia [RCV003784124]|not provided [RCV005000027] Chr3:122262301..122262303 [GRCh38]
Chr3:121981148..121981150 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.576C>G (p.His192Gln) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792405] Chr3:122261611 [GRCh38]
Chr3:121980458 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003792409] Chr3:122283785 [GRCh38]
Chr3:122002632 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1592G>C (p.Ser531Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003795862] Chr3:122276026 [GRCh38]
Chr3:121994873 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1677C>T (p.Pro559=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003793316]|Nephrolithiasis/nephrocalcinosis [RCV004366587] Chr3:122282181 [GRCh38]
Chr3:122001028 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1515T>C (p.Phe505=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV003815420] Chr3:122275949 [GRCh38]
Chr3:121994796 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.42_48del (p.Trp15fs) deletion Familial hypocalciuric hypercalcemia [RCV003815421] Chr3:122254228..122254234 [GRCh38]
Chr3:121973075..121973081 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.43T>G (p.Trp15Gly) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV003991523]|Nephrolithiasis/nephrocalcinosis [RCV004371922] Chr3:122254232 [GRCh38]
Chr3:121973079 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3175T>C (p.Ser1059Pro) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005023560]|Nephrolithiasis/nephrocalcinosis [RCV004525645] Chr3:122285129 [GRCh38]
Chr3:122003976 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.36A>G (p.Ala12=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525647] Chr3:122254225 [GRCh38]
Chr3:121973072 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.657G>T (p.Gly219=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525656] Chr3:122261692 [GRCh38]
Chr3:121980539 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.798C>T (p.Val266=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004525660] Chr3:122261833 [GRCh38]
Chr3:121980680 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2219T>C (p.Val740Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994959] Chr3:122284173 [GRCh38]
Chr3:122003020 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2445C>T (p.Phe815=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994974] Chr3:122284399 [GRCh38]
Chr3:122003246 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2241C>T (p.Pro747=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994987] Chr3:122284195 [GRCh38]
Chr3:122003042 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2400C>T (p.Asn800=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994988] Chr3:122284354 [GRCh38]
Chr3:122003201 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.17G>A (p.Cys6Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994960] Chr3:122254206 [GRCh38]
Chr3:121973053 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2706T>C (p.Leu902=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994972] Chr3:122284660 [GRCh38]
Chr3:122003507 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1503C>A (p.Gly501=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994982] Chr3:122275937 [GRCh38]
Chr3:121994784 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3094C>T (p.Leu1032=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994992] Chr3:122285048 [GRCh38]
Chr3:122003895 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2459C>A (p.Ser820Tyr) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994993] Chr3:122284413 [GRCh38]
Chr3:122003260 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2107C>T (p.Leu703Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034923] Chr3:122284061 [GRCh38]
Chr3:122002908 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.739T>G (p.Ser247Ala) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034921] Chr3:122261774 [GRCh38]
Chr3:121980621 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.897G>A (p.Trp299Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005034922] Chr3:122261932 [GRCh38]
Chr3:121980779 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.3026_3031delinsAACACC (p.Arg1009_Glu1011delinsGlnHisGln) indel Familial hypocalciuric hypercalcemia 1 [RCV005034924] Chr3:122284980..122284985 [GRCh38]
Chr3:122003827..122003832 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3069_3073del (p.Leu1023fs) deletion Nephrolithiasis/nephrocalcinosis [RCV004994963] Chr3:122285023..122285027 [GRCh38]
Chr3:122003870..122003874 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.606G>A (p.Glu202=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994964] Chr3:122261641 [GRCh38]
Chr3:121980488 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2863C>G (p.Arg955Gly) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994985] Chr3:122284817 [GRCh38]
Chr3:122003664 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2484C>T (p.Thr828=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994975] Chr3:122284438 [GRCh38]
Chr3:122003285 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2603C>T (p.Thr868Ile) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994962] Chr3:122284557 [GRCh38]
Chr3:122003404 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1719T>C (p.Tyr573=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994965] Chr3:122282223 [GRCh38]
Chr3:122001070 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1401A>G (p.Leu467=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994970] Chr3:122275835 [GRCh38]
Chr3:121994682 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.345T>G (p.Val115=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994986] Chr3:122257240 [GRCh38]
Chr3:121976087 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2011G>T (p.Glu671Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005218386]|Nephrolithiasis/nephrocalcinosis [RCV004994961] Chr3:122283965 [GRCh38]
Chr3:122002812 [GRCh37]
Chr3:3q21.1		 pathogenic|likely pathogenic
NM_000388.4(CASR):c.3078C>G (p.Thr1026=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994966] Chr3:122285032 [GRCh38]
Chr3:122003879 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1066T>C (p.Phe356Leu) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994967] Chr3:122262101 [GRCh38]
Chr3:121980948 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3113G>C (p.Gly1038Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994968] Chr3:122285067 [GRCh38]
Chr3:122003914 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2670C>G (p.Arg890=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994969] Chr3:122284624 [GRCh38]
Chr3:122003471 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2861A>C (p.Gln954Pro) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994973] Chr3:122284815 [GRCh38]
Chr3:122003662 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1755C>T (p.Cys585=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994976] Chr3:122283709 [GRCh38]
Chr3:122002556 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1326G>T (p.Gly442=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994977] Chr3:122262361 [GRCh38]
Chr3:121981208 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2670C>T (p.Arg890=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994978] Chr3:122284624 [GRCh38]
Chr3:122003471 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2667G>A (p.Leu889=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994979] Chr3:122284621 [GRCh38]
Chr3:122003468 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3024C>G (p.Thr1008=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994984] Chr3:122284978 [GRCh38]
Chr3:122003825 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.947G>C (p.Gly316Ala) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994971] Chr3:122261982 [GRCh38]
Chr3:121980829 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2010G>T (p.Gly670=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994980] Chr3:122283964 [GRCh38]
Chr3:122002811 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2466T>A (p.Ile822=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994981] Chr3:122284420 [GRCh38]
Chr3:122003267 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2181G>T (p.Leu727=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994989] Chr3:122284135 [GRCh38]
Chr3:122002982 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2601C>T (p.Asn867=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994990] Chr3:122284555 [GRCh38]
Chr3:122003402 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1666G>A (p.Glu556Lys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005221163]|Nephrolithiasis/nephrocalcinosis [RCV004994994] Chr3:122282170 [GRCh38]
Chr3:122001017 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1661T>A (p.Ile554Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223153]|not provided [RCV005000772] Chr3:122282165 [GRCh38]
Chr3:122001012 [GRCh37]
Chr3:3q21.1		 likely pathogenic|uncertain significance
NM_000388.4(CASR):c.86A>G (p.Lys29Arg) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031080]|Familial hypocalciuric hypercalcemia [RCV005218413] Chr3:122254275 [GRCh38]
Chr3:121973122 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.528C>G (p.Asn176Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031081] Chr3:122261563 [GRCh38]
Chr3:121980410 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.708C>T (p.Cys236=) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031082] Chr3:122261743 [GRCh38]
Chr3:121980590 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.866C>A (p.Thr289Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031084] Chr3:122261901 [GRCh38]
Chr3:121980748 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2263G>A (p.Glu755Lys) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031087] Chr3:122284217 [GRCh38]
Chr3:122003064 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.433A>C (p.Thr145Pro) single nucleotide variant not provided [RCV004997593] Chr3:122257328 [GRCh38]
Chr3:121976175 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1293G>T (p.Leu431Phe) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031085] Chr3:122262328 [GRCh38]
Chr3:121981175 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2234C>G (p.Thr745Ser) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031086] Chr3:122284188 [GRCh38]
Chr3:122003035 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1286A>C (p.His429Pro) single nucleotide variant not provided [RCV004997585] Chr3:122262321 [GRCh38]
Chr3:121981168 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1754G>C (p.Cys585Ser) single nucleotide variant not provided [RCV005000848] Chr3:122283708 [GRCh38]
Chr3:122002555 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2552G>A (p.Cys851Tyr) single nucleotide variant Hypercalcaemia, hypocalciuric [RCV005002055] Chr3:122284506 [GRCh38]
Chr3:122003353 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1532dup (p.Tyr511Ter) duplication Familial hypocalciuric hypercalcemia [RCV005212598] Chr3:122275965..122275966 [GRCh38]
Chr3:121994812..121994813 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1732+7G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228388] Chr3:122282243 [GRCh38]
Chr3:122001090 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2029T>C (p.Cys677Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212223] Chr3:122283983 [GRCh38]
Chr3:122002830 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.493-1G>A single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228518] Chr3:122261527 [GRCh38]
Chr3:121980374 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.3059A>C (p.Glu1020Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212991] Chr3:122285013 [GRCh38]
Chr3:122003860 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.19dup (p.Cys7fs) duplication Familial hypocalciuric hypercalcemia [RCV005228516] Chr3:122254207..122254208 [GRCh38]
Chr3:121973054..121973055 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1658G>A (p.Gly553Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212501] Chr3:122282162 [GRCh38]
Chr3:122001009 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1448G>C (p.Gly483Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215187] Chr3:122275882 [GRCh38]
Chr3:121994729 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1100del (p.Pro367fs) deletion Familial hypocalciuric hypercalcemia [RCV005212549] Chr3:122262134 [GRCh38]
Chr3:121980981 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1825_1826dup (p.Glu610fs) duplication Familial hypocalciuric hypercalcemia [RCV005088361] Chr3:122283778..122283779 [GRCh38]
Chr3:122002625..122002626 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1868G>T (p.Gly623Val) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215012] Chr3:122283822 [GRCh38]
Chr3:122002669 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.56C>A (p.Ala19Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005214272] Chr3:122254245 [GRCh38]
Chr3:121973092 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2467C>A (p.Pro823Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005226441] Chr3:122284421 [GRCh38]
Chr3:122003268 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.461C>A (p.Ala154Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005225938] Chr3:122257356 [GRCh38]
Chr3:121976203 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1426C>T (p.Gln476Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005226205] Chr3:122275860 [GRCh38]
Chr3:121994707 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2025G>C (p.Trp675Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005226423] Chr3:122283979 [GRCh38]
Chr3:122002826 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2474A>G (p.Tyr825Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005211597]|not specified [RCV005407420] Chr3:122284428 [GRCh38]
Chr3:122003275 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1243C>T (p.Arg415Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005209959] Chr3:122262278 [GRCh38]
Chr3:121981125 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1725T>A (p.Asp575Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005214203] Chr3:122282229 [GRCh38]
Chr3:122001076 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.809T>A (p.Phe270Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228125] Chr3:122261844 [GRCh38]
Chr3:121980691 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2204del (p.Gln735fs) deletion Familial hypocalciuric hypercalcemia [RCV005225991] Chr3:122284158 [GRCh38]
Chr3:122003005 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1468T>C (p.Ser490Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005214138] Chr3:122275902 [GRCh38]
Chr3:121994749 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.497G>T (p.Ser166Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005211141] Chr3:122261532 [GRCh38]
Chr3:121980379 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2617C>A (p.Arg873Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005211468] Chr3:122284571 [GRCh38]
Chr3:122003418 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1985T>G (p.Phe662Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212852]|not provided [RCV005429501] Chr3:122283939 [GRCh38]
Chr3:122002786 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1290C>T (p.Ala430=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212277] Chr3:122262325 [GRCh38]
Chr3:121981172 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.263T>C (p.Leu88Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005211731] Chr3:122257158 [GRCh38]
Chr3:121976005 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1271T>G (p.Val424Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212316] Chr3:122262306 [GRCh38]
Chr3:121981153 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1976T>C (p.Leu659Pro) single nucleotide variant not specified [RCV005088444] Chr3:122283930 [GRCh38]
Chr3:122002777 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1675C>A (p.Pro559Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212275] Chr3:122282179 [GRCh38]
Chr3:122001026 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2555T>A (p.Ile852Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005212276] Chr3:122284509 [GRCh38]
Chr3:122003356 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1256A>G (p.Asn419Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228519] Chr3:122262291 [GRCh38]
Chr3:121981138 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1608+3A>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228520] Chr3:122276045 [GRCh38]
Chr3:121994892 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2550_2551insCCAG (p.Cys851fs) insertion Familial hypocalciuric hypercalcemia [RCV005228522] Chr3:122284503..122284504 [GRCh38]
Chr3:122003350..122003351 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1324G>C (p.Gly442Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213035] Chr3:122262359 [GRCh38]
Chr3:121981206 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1277C>T (p.Ser426Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005213048] Chr3:122262312 [GRCh38]
Chr3:121981159 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.357A>C (p.Lys119Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005217319] Chr3:122257252 [GRCh38]
Chr3:121976099 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.659G>T (p.Arg220Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223704] Chr3:122261694 [GRCh38]
Chr3:121980541 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.965T>C (p.Leu322Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005222611] Chr3:122262000 [GRCh38]
Chr3:121980847 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1610T>G (p.Val537Gly) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220527] Chr3:122282114 [GRCh38]
Chr3:122000961 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2215T>C (p.Cys739Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005221551] Chr3:122284169 [GRCh38]
Chr3:122003016 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-6del deletion Familial hypocalciuric hypercalcemia [RCV005218535] Chr3:122282106 [GRCh38]
Chr3:122000953 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.740C>G (p.Ser247Cys) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005219747] Chr3:122261775 [GRCh38]
Chr3:121980622 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.922C>G (p.Pro308Ala) single nucleotide variant not provided [RCV005250773] Chr3:122261957 [GRCh38]
Chr3:121980804 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2522T>C (p.Ile841Thr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220372] Chr3:122284476 [GRCh38]
Chr3:122003323 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1371G>C (p.Ala457=) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005224745] Chr3:122262406 [GRCh38]
Chr3:121981253 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2243_2244delinsAC (p.Pro748His) indel Familial hypocalciuric hypercalcemia [RCV005238333] Chr3:122284197..122284198 [GRCh38]
Chr3:122003044..122003045 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1997dup (p.Phe667fs) duplication not provided [RCV005232454] Chr3:122283950..122283951 [GRCh38]
Chr3:122002797..122002798 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2224T>C (p.Trp742Arg) single nucleotide variant not provided [RCV005232455] Chr3:122284178 [GRCh38]
Chr3:122003025 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.2860C>T (p.Gln954Ter) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005250434] Chr3:122284814 [GRCh38]
Chr3:122003661 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2471C>A (p.Ala824Asp) single nucleotide variant not provided [RCV005235980] Chr3:122284425 [GRCh38]
Chr3:122003272 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2548G>C (p.Ala850Pro) single nucleotide variant not specified [RCV005241152] Chr3:122284502 [GRCh38]
Chr3:122003349 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1273T>C (p.Tyr425His) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005245581] Chr3:122262308 [GRCh38]
Chr3:121981155 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.758A>T (p.Gln253Leu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005219316] Chr3:122261793 [GRCh38]
Chr3:121980640 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2447T>A (p.Ile816Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005224081] Chr3:122284401 [GRCh38]
Chr3:122003248 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1625G>A (p.Cys542Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005222004] Chr3:122282129 [GRCh38]
Chr3:122000976 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1732+1G>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005217934] Chr3:122282237 [GRCh38]
Chr3:122001084 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1679C>T (p.Thr560Ile) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220066] Chr3:122282183 [GRCh38]
Chr3:122001030 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1913G>C (p.Arg638Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005221663] Chr3:122283867 [GRCh38]
Chr3:122002714 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.185+8G>T single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005222294] Chr3:122254382 [GRCh38]
Chr3:121973229 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.647A>C (p.Asp216Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220198] Chr3:122261682 [GRCh38]
Chr3:121980529 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.889_903del (p.Glu297_Ser301del) deletion Familial hypocalciuric hypercalcemia [RCV005220228] Chr3:122261917..122261931 [GRCh38]
Chr3:121980764..121980778 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.2303G>A (p.Gly768Asp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005218055] Chr3:122284257 [GRCh38]
Chr3:122003104 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.492+6C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220387] Chr3:122257393 [GRCh38]
Chr3:121976240 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1840_1843del (p.Ile614fs) deletion Familial hypocalciuric hypercalcemia [RCV005220418] Chr3:122283793..122283796 [GRCh38]
Chr3:122002640..122002643 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1034dup (p.Asn345fs) duplication Familial hypocalciuric hypercalcemia [RCV005223871] Chr3:122262067..122262068 [GRCh38]
Chr3:121980914..121980915 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.737_756del (p.Tyr246fs) deletion Familial hypocalciuric hypercalcemia [RCV005218162] Chr3:122261772..122261791 [GRCh38]
Chr3:121980619..121980638 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.3069A>C (p.Leu1023Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005224205] Chr3:122285023 [GRCh38]
Chr3:122003870 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.72G>C (p.Gln24His) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005217315] Chr3:122254261 [GRCh38]
Chr3:121973108 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.545C>A (p.Ser182Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005217378] Chr3:122261580 [GRCh38]
Chr3:121980427 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1609-27C>G single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223933] Chr3:122282086 [GRCh38]
Chr3:122000933 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1732+2T>C single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005219781] Chr3:122282238 [GRCh38]
Chr3:122001085 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1299T>G (p.Asp433Glu) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223992] Chr3:122262334 [GRCh38]
Chr3:121981181 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1734dup (p.Ala579fs) duplication Familial hypocalciuric hypercalcemia [RCV005223484] Chr3:122283687..122283688 [GRCh38]
Chr3:122002534..122002535 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.335del (p.Leu112fs) deletion Familial hypocalciuric hypercalcemia [RCV005217686] Chr3:122257230 [GRCh38]
Chr3:121976077 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.303C>G (p.Cys101Trp) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215482] Chr3:122257198 [GRCh38]
Chr3:121976045 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1927G>T (p.Val643Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220010] Chr3:122283881 [GRCh38]
Chr3:122002728 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.180dup (p.Ile61fs) duplication Familial hypocalciuric hypercalcemia [RCV005220011] Chr3:122254368..122254369 [GRCh38]
Chr3:121973215..121973216 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.1823G>A (p.Trp608Ter) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005222284] Chr3:122283777 [GRCh38]
Chr3:122002624 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.814A>C (p.Ser272Arg) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223553] Chr3:122261849 [GRCh38]
Chr3:121980696 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.636dup (p.Ala213fs) duplication Familial hypocalciuric hypercalcemia [RCV005221292] Chr3:122261669..122261670 [GRCh38]
Chr3:121980516..121980517 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.104G>C (p.Gly35Ala) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215517]|not provided [RCV005241588] Chr3:122254293 [GRCh38]
Chr3:121973140 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2053G>A (p.Gly685Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005223666] Chr3:122284007 [GRCh38]
Chr3:122002854 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.889del (p.Glu297fs) deletion Familial hypocalciuric hypercalcemia [RCV005223728] Chr3:122261924 [GRCh38]
Chr3:121980771 [GRCh37]
Chr3:3q21.1		 pathogenic
NM_000388.4(CASR):c.623_624delinsCT (p.Trp208Ser) indel Familial hypocalciuric hypercalcemia [RCV005215610] Chr3:122261658..122261659 [GRCh38]
Chr3:121980505..121980506 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1685G>T (p.Cys562Phe) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005215617] Chr3:122282189 [GRCh38]
Chr3:122001036 [GRCh37]
Chr3:3q21.1		 likely pathogenic
NM_000388.4(CASR):c.1571A>G (p.Asn524Ser) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005220130] Chr3:122276005 [GRCh38]
Chr3:121994852 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1302A>T (p.Ile434=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307776] Chr3:122262337 [GRCh38]
Chr3:121981184 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.1107T>C (p.Pro369=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307777] Chr3:122262142 [GRCh38]
Chr3:121980989 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3084G>A (p.Gln1028=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307781] Chr3:122285038 [GRCh38]
Chr3:122003885 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.3078C>T (p.Thr1026=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307774] Chr3:122285032 [GRCh38]
Chr3:122003879 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2841C>T (p.Pro947=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005316309] Chr3:122284795 [GRCh38]
Chr3:122003642 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2112G>A (p.Leu704=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005316311] Chr3:122284066 [GRCh38]
Chr3:122002913 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2503del (p.Ala835fs) deletion not specified [RCV005409209] Chr3:122284457 [GRCh38]
Chr3:122003304 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1800C>T (p.Ala600=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307773] Chr3:122283754 [GRCh38]
Chr3:122002601 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.51C>G (p.Thr17=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307779] Chr3:122254240 [GRCh38]
Chr3:121973087 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.385T>G (p.Cys129Gly) single nucleotide variant Autosomal dominant hypocalcemia 1 [RCV005252576] Chr3:122257280 [GRCh38]
Chr3:121976127 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.1692G>A (p.Glu564=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307775] Chr3:122282196 [GRCh38]
Chr3:122001043 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.525C>T (p.Ser175=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005307780] Chr3:122261560 [GRCh38]
Chr3:121980407 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.108G>T (p.Gly36=) single nucleotide variant not specified [RCV005408533] Chr3:122254297 [GRCh38]
Chr3:121973144 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.2036T>A (p.Leu679Gln) single nucleotide variant not specified [RCV005409130] Chr3:122283990 [GRCh38]
Chr3:122002837 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2629G>C (p.Ala877Pro) single nucleotide variant not specified [RCV005418531] Chr3:122284583 [GRCh38]
Chr3:122003430 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3054C>A (p.Cys1018Ter) single nucleotide variant not provided [RCV005413576] Chr3:122285008 [GRCh38]
Chr3:122003855 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.561C>A (p.Ile187=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005316310] Chr3:122261596 [GRCh38]
Chr3:121980443 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.918C>A (p.Ala306=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV004994991] Chr3:122261953 [GRCh38]
Chr3:121980800 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.793A>G (p.Lys265Glu) single nucleotide variant Familial hypocalciuric hypercalcemia 1 [RCV005031083] Chr3:122261828 [GRCh38]
Chr3:121980675 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.346G>C (p.Ala116Pro) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005228517] Chr3:122257241 [GRCh38]
Chr3:121976088 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2635C>T (p.His879Tyr) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005226096] Chr3:122284589 [GRCh38]
Chr3:122003436 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.2568G>C (p.Lys856Asn) single nucleotide variant Familial hypocalciuric hypercalcemia [RCV005209708] Chr3:122284522 [GRCh38]
Chr3:122003369 [GRCh37]
Chr3:3q21.1		 uncertain significance
NM_000388.4(CASR):c.3171C>T (p.Ser1057=) single nucleotide variant Nephrolithiasis/nephrocalcinosis [RCV005316312] Chr3:122285125 [GRCh38]
Chr3:122003972 [GRCh37]
Chr3:3q21.1		 likely benign
NM_000388.4(CASR):c.804G>A (p.Val268=) single nucleotide variant not provided [RCV005257367] Chr3:122261839 [GRCh38]
Chr3:121980686 [GRCh37]
Chr3:3q21.1		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR135Bhsa-miR-135b-5pMirtarbaseexternal_infoWestern blotFunctional MTI23340180
MIR31hsa-miR-31-5pMirtarbaseexternal_infoLacZ assayFunctional MTI20145132
MIR31hsa-miR-31-3pMirecordsexternal_info{changed}NA20145132

Predicted Target Of
Summary Value
Count of predictions:1233
Count of miRNA genes:659
Interacting mature miRNAs:742
Transcripts:ENST00000296154, ENST00000490131, ENST00000490186, ENST00000498619
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597169812GWAS1265886_Hasthma QTL GWAS1265886 (human)5e-09asthma3122273978122273979Human
597192854GWAS1288928_Hmemory performance QTL GWAS1288928 (human)0.000009learning/memory/conditioning trait (VT:0002063)3122279414122279415Human
596987291GWAS1106810_Hcalcium measurement QTL GWAS1106810 (human)1e-103calcium measurement3122284910122284911Human
597286285GWAS1382359_Heosinophil count QTL GWAS1382359 (human)1e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)3122281879122281880Human
597193088GWAS1289162_Hmemory performance QTL GWAS1289162 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122271086122271087Human
597591937GWAS1648797_Hnephrolithiasis QTL GWAS1648797 (human)9e-17kidney integrity trait (VT:0010580)3122226317122226318Human
597192889GWAS1288963_Hmemory performance QTL GWAS1288963 (human)0.0000008learning/memory/conditioning trait (VT:0002063)3122259302122259303Human
597071287GWAS1167361_Hcalcium measurement QTL GWAS1167361 (human)3e-24calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
597192890GWAS1288964_Hmemory performance QTL GWAS1288964 (human)0.0000008learning/memory/conditioning trait (VT:0002063)3122259463122259464Human
597071285GWAS1167359_Hcalcium measurement QTL GWAS1167359 (human)1e-38calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122290328122290329Human
597192895GWAS1288969_Hmemory performance QTL GWAS1288969 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122287287122287288Human
597077436GWAS1173510_Hpsoriasis QTL GWAS1173510 (human)2e-10psoriasis3122284922122284923Human
407024495GWAS673471_Hcalcium measurement QTL GWAS673471 (human)9e-86calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
597071288GWAS1167362_Hcalcium measurement QTL GWAS1167362 (human)2e-08calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122226991122226992Human
597192887GWAS1288961_Hmemory performance QTL GWAS1288961 (human)0.0000008learning/memory/conditioning trait (VT:0002063)3122288033122288034Human
597118624GWAS1214698_Hcalcium measurement QTL GWAS1214698 (human)4e-09calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122254368122254369Human
596984495GWAS1104014_Hmemory performance QTL GWAS1104014 (human)0.000009memory performance3122279414122279415Human
597046186GWAS1142260_HQT interval QTL GWAS1142260 (human)4e-08heart electrical impulse conduction trait (VT:2000017)QT interval (CMO:0000235)3122284910122284911Human
597426850GWAS1522924_Hurate measurement QTL GWAS1522924 (human)1e-09urate measurementblood uric acid level (CMO:0000501)3122221362122221363Human
597085096GWAS1181170_Htype 2 diabetes mellitus QTL GWAS1181170 (human)1e-09type 2 diabetes mellitus3122242614122242615Human
597104040GWAS1200114_Htype 2 diabetes mellitus QTL GWAS1200114 (human)5e-09type 2 diabetes mellitus3122238106122238107Human
597104296GWAS1200370_Htype 2 diabetes mellitus QTL GWAS1200370 (human)5e-11type 2 diabetes mellitus3122250865122250866Human
597192667GWAS1288741_Hmemory performance QTL GWAS1288741 (human)0.000004learning/memory/conditioning trait (VT:0002063)3122256377122256378Human
597192670GWAS1288744_Hmemory performance QTL GWAS1288744 (human)0.000003learning/memory/conditioning trait (VT:0002063)3122277388122277389Human
597252816GWAS1348890_Hcalcium measurement QTL GWAS1348890 (human)2e-15calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122221814122221815Human
596980700GWAS1100219_Hmemory performance QTL GWAS1100219 (human)0.0000008memory performance3122259463122259464Human
407040011GWAS688987_Hcalcium measurement QTL GWAS688987 (human)0.000002calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
596980697GWAS1100216_Hmemory performance QTL GWAS1100216 (human)0.0000008memory performance3122288033122288034Human
596980699GWAS1100218_Hmemory performance QTL GWAS1100218 (human)0.0000008memory performance3122259302122259303Human
597192904GWAS1288978_Hmemory performance QTL GWAS1288978 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122263491122263492Human
597192905GWAS1288979_Hmemory performance QTL GWAS1288979 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122264475122264476Human
597192906GWAS1288980_Hmemory performance QTL GWAS1288980 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122267468122267469Human
597608136GWAS1664996_HHypercalcemia QTL GWAS1664996 (human)3e-26Hypercalcemia3122274400122274401Human
597192896GWAS1288970_Hmemory performance QTL GWAS1288970 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122266284122266285Human
597192898GWAS1288972_Hmemory performance QTL GWAS1288972 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122285251122285252Human
597192900GWAS1288974_Hmemory performance QTL GWAS1288974 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122280917122280918Human
597192901GWAS1288975_Hmemory performance QTL GWAS1288975 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122284985122284986Human
597192902GWAS1288976_Hmemory performance QTL GWAS1288976 (human)0.000001learning/memory/conditioning trait (VT:0002063)3122279258122279259Human
597192903GWAS1288977_Hmemory performance QTL GWAS1288977 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122262988122262989Human
597615102GWAS1671962_Hbladder calculus QTL GWAS1671962 (human)2e-17bladder calculus3122210603122210604Human
596980724GWAS1100243_Hmemory performance QTL GWAS1100243 (human)0.0000007memory performance3122277388122277389Human
597347576GWAS1443650_Hnephrolithiasis QTL GWAS1443650 (human)3e-10kidney integrity trait (VT:0010580)3122223866122223868Human
597166587GWAS1262661_Hurolithiasis QTL GWAS1262661 (human)1e-08urolithiasis3122215104122215105Human
597233146GWAS1329220_Hgut microbiome measurement QTL GWAS1329220 (human)0.000006gut microbiome measurement3122243159122243160Human
597246205GWAS1342279_Hblood phosphate measurement QTL GWAS1342279 (human)5e-93blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)3122284910122284911Human
596980464GWAS1099983_Hmemory performance QTL GWAS1099983 (human)0.000003memory performance3122277388122277389Human
597243376GWAS1339450_Hblood phosphate measurement QTL GWAS1339450 (human)2e-27blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)3122244438122244439Human
596980735GWAS1100254_Hmemory performance QTL GWAS1100254 (human)0.000002memory performance3122262988122262989Human
596980734GWAS1100253_Hmemory performance QTL GWAS1100253 (human)0.000001memory performance3122279258122279259Human
597164532GWAS1260606_Hasthma QTL GWAS1260606 (human)4e-08asthma3122276094122276095Human
596980472GWAS1099991_Hmemory performance QTL GWAS1099991 (human)0.000004memory performance3122256377122256378Human
407095345GWAS744321_Hsphingomyelin measurement QTL GWAS744321 (human)2e-08blood phospholipid amount (VT:0006084)3122283167122283168Human
596980967GWAS1100486_Hmemory performance QTL GWAS1100486 (human)0.000001memory performance3122284985122284986Human
596980966GWAS1100485_Hmemory performance QTL GWAS1100485 (human)0.000001memory performance3122280917122280918Human
597243626GWAS1339700_Hchronic widespread pain QTL GWAS1339700 (human)0.000003nociception system morphology trait (VT:0015098)3122290661122290662Human
597150691GWAS1246765_Heducational attainment QTL GWAS1246765 (human)6e-10educational attainment3122262762122262763Human
596980961GWAS1100480_Hmemory performance QTL GWAS1100480 (human)0.000001memory performance3122266284122266285Human
597200877GWAS1296951_Hmemory performance QTL GWAS1296951 (human)0.0000007learning/memory/conditioning trait (VT:0002063)3122277388122277389Human
596980960GWAS1100479_Hmemory performance QTL GWAS1100479 (human)0.000001memory performance3122287287122287288Human
596980963GWAS1100482_Hmemory performance QTL GWAS1100482 (human)0.000001memory performance3122285251122285252Human
407023925GWAS672901_Hcalcium measurement QTL GWAS672901 (human)6e-37calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
597091095GWAS1187169_Htype 2 diabetes mellitus QTL GWAS1187169 (human)3e-09type 2 diabetes mellitus3122238106122238107Human
597163539GWAS1259613_Htype 2 diabetes mellitus QTL GWAS1259613 (human)1e-08type 2 diabetes mellitus3122244178122244179Human
597290770GWAS1386844_Hcalcium measurement QTL GWAS1386844 (human)1e-103calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
597164054GWAS1260128_HDrugs used in diabetes use measurement QTL GWAS1260128 (human)5e-09Drugs used in diabetes use measurement3122280212122280213Human
596980741GWAS1100260_Hmemory performance QTL GWAS1100260 (human)0.000002memory performance3122270279122270280Human
597082631GWAS1178705_Htype 2 diabetes mellitus QTL GWAS1178705 (human)3e-09type 2 diabetes mellitus3122246352122246353Human
596980740GWAS1100259_Hmemory performance QTL GWAS1100259 (human)0.000002memory performance3122273166122273167Human
596980743GWAS1100262_Hmemory performance QTL GWAS1100262 (human)0.000002memory performance3122283406122283407Human
596980737GWAS1100256_Hmemory performance QTL GWAS1100256 (human)0.000002memory performance3122264475122264476Human
596980736GWAS1100255_Hmemory performance QTL GWAS1100255 (human)0.000002memory performance3122263491122263492Human
597603080GWAS1659940_Htype 2 diabetes mellitus QTL GWAS1659940 (human)6e-11type 2 diabetes mellitus3122247386122247387Human
596980739GWAS1100258_Hmemory performance QTL GWAS1100258 (human)0.000002memory performance3122271086122271087Human
596980738GWAS1100257_Hmemory performance QTL GWAS1100257 (human)0.000002memory performance3122267468122267469Human
596980744GWAS1100263_Hmemory performance QTL GWAS1100263 (human)0.000002memory performance3122289866122289867Human
597223430GWAS1319504_Hcalcium measurement QTL GWAS1319504 (human)3e-09calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122250032122250033Human
597581374GWAS1638234_Hcalcium measurement QTL GWAS1638234 (human)1e-323calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122262762122262763Human
597255229GWAS1351303_Hcalcium measurement QTL GWAS1351303 (human)1e-13calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122261783122261784Human
597119290GWAS1215364_Hblood phosphate measurement QTL GWAS1215364 (human)4e-14blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)3122282135122282136Human
597591344GWAS1648204_Hbladder calculus QTL GWAS1648204 (human)3e-18bladder calculus3122210603122210604Human
597291049GWAS1387123_Hphosphate measurement QTL GWAS1387123 (human)2e-13blood phosphate amount (VT:0001565)3122284910122284911Human
597167402GWAS1263476_Htype 2 diabetes mellitus QTL GWAS1263476 (human)2e-09type 2 diabetes mellitus3122250865122250866Human
597053987GWAS1150061_Heosinophil count QTL GWAS1150061 (human)5e-16eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)3122259226122259227Human
597615139GWAS1671999_Hnephrolithiasis QTL GWAS1671999 (human)2e-16kidney integrity trait (VT:0010580)3122226317122226318Human
597094738GWAS1190812_Hnephrolithiasis QTL GWAS1190812 (human)2e-08kidney integrity trait (VT:0010580)3122227252122227253Human
596988499GWAS1108018_Hphosphate measurement QTL GWAS1108018 (human)2e-13phosphate measurement3122284910122284911Human
407020695GWAS669671_Hcalcium measurement QTL GWAS669671 (human)2e-22calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122274400122274401Human
596949570GWAS1069089_Heosinophil percentage of leukocytes QTL GWAS1069089 (human)2e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)3122258435122258436Human
597254210GWAS1350284_HQT interval QTL GWAS1350284 (human)0.0000001heart electrical impulse conduction trait (VT:2000017)QT interval (CMO:0000235)3122284910122284911Human
597193073GWAS1289147_Hmemory performance QTL GWAS1289147 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122273166122273167Human
597168241GWAS1264315_Hcalcium measurement QTL GWAS1264315 (human)4e-39calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284922122284923Human
597193074GWAS1289148_Hmemory performance QTL GWAS1289148 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122270279122270280Human
597193076GWAS1289150_Hmemory performance QTL GWAS1289150 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122283406122283407Human
597309303GWAS1405377_HDrugs used in diabetes use measurement QTL GWAS1405377 (human)7e-09Drugs used in diabetes use measurement3122256477122256478Human
597193077GWAS1289151_Hmemory performance QTL GWAS1289151 (human)0.000002learning/memory/conditioning trait (VT:0002063)3122289866122289867Human
406987698GWAS636674_Hcalcium measurement, clinical laboratory measurement QTL GWAS636674 (human)2e-51calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122274400122274401Human
597252202GWAS1348276_Hcalcium measurement QTL GWAS1348276 (human)2e-22calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122279149122279150Human
597254765GWAS1350839_Hcalcium measurement QTL GWAS1350839 (human)3e-595calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122284910122284911Human
597252204GWAS1348278_Hcalcium measurement QTL GWAS1348278 (human)3e-21calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122265173122265174Human
597257569GWAS1353643_Hcalcium measurement QTL GWAS1353643 (human)4e-70calcium amount (VT:0010499)blood calcium level (CMO:0000502)3122244438122244439Human

Markers in Region
SHGC-77256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373122,003,828 - 122,003,953UniSTSGRCh37
Build 363123,486,518 - 123,486,643RGDNCBI36
Celera3120,413,464 - 120,413,589RGD
Cytogenetic Map3q13UniSTS
HuRef3119,377,361 - 119,377,486UniSTS
TNG Radiation Hybrid Map369490.0UniSTS
GeneMap99-GB4 RH Map3423.87UniSTS
NCBI RH Map3929.8UniSTS
RH99210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,902,835 - 121,902,973UniSTSGRCh37
Build 363123,385,525 - 123,385,663RGDNCBI36
Celera3120,312,447 - 120,312,585RGD
Cytogenetic Map3q13UniSTS
HuRef3119,276,367 - 119,276,505UniSTS
GeneMap99-GB4 RH Map3430.17UniSTS
RH103474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,968,354 - 121,968,488UniSTSGRCh37
Build 363123,451,044 - 123,451,178RGDNCBI36
Celera3120,377,959 - 120,378,093RGD
Cytogenetic Map3q13UniSTS
HuRef3119,341,881 - 119,342,015UniSTS
GeneMap99-GB4 RH Map3423.87UniSTS
SHGC-84714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,970,133 - 121,970,441UniSTSGRCh37
Build 363123,452,823 - 123,453,131RGDNCBI36
Celera3120,379,738 - 120,380,046RGD
Cytogenetic Map3q13UniSTS
HuRef3119,343,660 - 119,343,968UniSTS
TNG Radiation Hybrid Map369466.0UniSTS
RH121068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,970,227 - 121,970,540UniSTSGRCh37
Build 363123,452,917 - 123,453,230RGDNCBI36
Celera3120,379,832 - 120,380,145RGD
Cytogenetic Map3q13UniSTS
HuRef3119,343,754 - 119,344,067UniSTS
TNG Radiation Hybrid Map369475.0UniSTS
D3S3193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,973,009 - 121,973,257UniSTSGRCh37
Build 363123,455,699 - 123,455,947RGDNCBI36
Celera3120,382,643 - 120,382,891RGD
Cytogenetic Map3q13UniSTS
HuRef3119,346,544 - 119,346,792UniSTS
SHGC-147441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,971,433 - 121,971,771UniSTSGRCh37
Build 363123,454,123 - 123,454,461RGDNCBI36
Celera3120,381,067 - 120,381,405RGD
Cytogenetic Map3q13UniSTS
HuRef3119,344,968 - 119,345,306UniSTS
TNG Radiation Hybrid Map369475.0UniSTS
SHGC-35350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373122,004,065 - 122,004,267UniSTSGRCh37
Build 363123,486,755 - 123,486,957RGDNCBI36
Celera3120,413,701 - 120,413,903RGD
Cytogenetic Map3q13UniSTS
HuRef3119,377,598 - 119,377,801UniSTS
GeneMap99-GB4 RH Map3423.56UniSTS
Whitehead-RH Map3530.2UniSTS
NCBI RH Map31037.7UniSTS
GeneMap99-G3 RH Map35957.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
639 1564 1149 852 2905 1305 1580 439 1436 352 1179 4276 3515 10 2118 653 1328 1015 89

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY116081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY259116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP388878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ088967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ327728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ912402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ912403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ912404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ912405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ360896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM692549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA910713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB138639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W56898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000490131   ⟹   ENSP00000418685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,253,948 - 122,285,958 (+)Ensembl
Ensembl Acc Id: ENST00000498619   ⟹   ENSP00000420194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,184,334 - 122,286,495 (+)Ensembl
Ensembl Acc Id: ENST00000638296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,254,271 - 122,257,638 (+)Ensembl
Ensembl Acc Id: ENST00000638421   ⟹   ENSP00000492190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,184,233 - 122,286,503 (+)Ensembl
Ensembl Acc Id: ENST00000639785   ⟹   ENSP00000491584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,183,668 - 122,291,629 (+)Ensembl
Ensembl Acc Id: ENST00000643573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3122,184,432 - 122,247,757 (+)Ensembl
RefSeq Acc Id: NM_000388   ⟹   NP_000379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,183,668 - 122,291,629 (+)NCBI
GRCh373121,902,530 - 122,005,350 (+)NCBI
Build 363123,385,220 - 123,488,032 (+)NCBI Archive
HuRef3119,276,062 - 119,378,878 (+)NCBI
CHM1_13121,866,087 - 121,968,904 (+)NCBI
T2T-CHM13v2.03124,903,258 - 125,011,238 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178065   ⟹   NP_001171536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,184,327 - 122,291,629 (+)NCBI
GRCh373121,902,530 - 122,005,350 (+)NCBI
HuRef3119,276,062 - 119,378,878 (+)NCBI
CHM1_13121,866,738 - 121,968,904 (+)NCBI
T2T-CHM13v2.03124,903,917 - 125,011,238 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713789   ⟹   XP_006713852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,184,327 - 122,291,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007324   ⟹   XP_016862813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,245,165 - 122,291,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007325   ⟹   XP_016862814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,248,249 - 122,291,629 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449065   ⟹   XP_047305021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,184,327 - 122,291,629 (+)NCBI
RefSeq Acc Id: XM_054348094   ⟹   XP_054204069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,903,405 - 125,011,238 (+)NCBI
RefSeq Acc Id: XM_054348095   ⟹   XP_054204070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,964,745 - 125,011,238 (+)NCBI
RefSeq Acc Id: XM_054348096   ⟹   XP_054204071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,967,830 - 125,011,238 (+)NCBI
RefSeq Acc Id: XM_054348097   ⟹   XP_054204072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,903,405 - 125,011,238 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000379 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171536 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713852 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862813 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862814 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204072 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA86503 (Get FASTA)   NCBI Sequence Viewer  
  AAA86504 (Get FASTA)   NCBI Sequence Viewer  
  AAB29413 (Get FASTA)   NCBI Sequence Viewer  
  AAB29414 (Get FASTA)   NCBI Sequence Viewer  
  AAB29415 (Get FASTA)   NCBI Sequence Viewer  
  AAB35262 (Get FASTA)   NCBI Sequence Viewer  
  AAB46873 (Get FASTA)   NCBI Sequence Viewer  
  AAD14370 (Get FASTA)   NCBI Sequence Viewer  
  AAI05000 (Get FASTA)   NCBI Sequence Viewer  
  AAI12237 (Get FASTA)   NCBI Sequence Viewer  
  AAP20759 (Get FASTA)   NCBI Sequence Viewer  
  AAY68221 (Get FASTA)   NCBI Sequence Viewer  
  ABD04091 (Get FASTA)   NCBI Sequence Viewer  
  ABD04092 (Get FASTA)   NCBI Sequence Viewer  
  ABD04093 (Get FASTA)   NCBI Sequence Viewer  
  ABD04094 (Get FASTA)   NCBI Sequence Viewer  
  ABD04095 (Get FASTA)   NCBI Sequence Viewer  
  ABD04096 (Get FASTA)   NCBI Sequence Viewer  
  ABK33660 (Get FASTA)   NCBI Sequence Viewer  
  ABK33661 (Get FASTA)   NCBI Sequence Viewer  
  ABK33662 (Get FASTA)   NCBI Sequence Viewer  
  ABK33663 (Get FASTA)   NCBI Sequence Viewer  
  ACJ04039 (Get FASTA)   NCBI Sequence Viewer  
  BAA09453 (Get FASTA)   NCBI Sequence Viewer  
  CAA56990 (Get FASTA)   NCBI Sequence Viewer  
  CAV33589 (Get FASTA)   NCBI Sequence Viewer  
  CCV20013 (Get FASTA)   NCBI Sequence Viewer  
  CCW28005 (Get FASTA)   NCBI Sequence Viewer  
  EAW79490 (Get FASTA)   NCBI Sequence Viewer  
  EAW79491 (Get FASTA)   NCBI Sequence Viewer  
  EAW79492 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000418685
  ENSP00000420194
  ENSP00000420194.1
  ENSP00000491584
  ENSP00000491584.2
  ENSP00000492190
  ENSP00000492190.1
GenBank Protein P41180 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001171536   ⟸   NM_001178065
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000379   ⟸   NM_000388
- Peptide Label: isoform 2 precursor
- UniProtKB: Q2M1T0 (UniProtKB/Swiss-Prot),   Q16379 (UniProtKB/Swiss-Prot),   Q16110 (UniProtKB/Swiss-Prot),   Q16109 (UniProtKB/Swiss-Prot),   Q16108 (UniProtKB/Swiss-Prot),   Q13912 (UniProtKB/Swiss-Prot),   P41180 (UniProtKB/Swiss-Prot),   Q4PJ19 (UniProtKB/Swiss-Prot),   A0A1X7SBX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713852   ⟸   XM_006713789
- Peptide Label: isoform X1
- UniProtKB: Q2M1T0 (UniProtKB/Swiss-Prot),   Q16379 (UniProtKB/Swiss-Prot),   Q16110 (UniProtKB/Swiss-Prot),   Q16109 (UniProtKB/Swiss-Prot),   Q16108 (UniProtKB/Swiss-Prot),   Q13912 (UniProtKB/Swiss-Prot),   Q4PJ19 (UniProtKB/Swiss-Prot),   P41180 (UniProtKB/Swiss-Prot),   A0A1X7SBX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862813   ⟸   XM_017007324
- Peptide Label: isoform X1
- UniProtKB: Q2M1T0 (UniProtKB/Swiss-Prot),   Q16379 (UniProtKB/Swiss-Prot),   Q16110 (UniProtKB/Swiss-Prot),   Q16109 (UniProtKB/Swiss-Prot),   Q16108 (UniProtKB/Swiss-Prot),   Q13912 (UniProtKB/Swiss-Prot),   Q4PJ19 (UniProtKB/Swiss-Prot),   P41180 (UniProtKB/Swiss-Prot),   A0A1X7SBX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862814   ⟸   XM_017007325
- Peptide Label: isoform X1
- UniProtKB: Q2M1T0 (UniProtKB/Swiss-Prot),   Q16379 (UniProtKB/Swiss-Prot),   Q16110 (UniProtKB/Swiss-Prot),   Q16109 (UniProtKB/Swiss-Prot),   Q16108 (UniProtKB/Swiss-Prot),   Q13912 (UniProtKB/Swiss-Prot),   Q4PJ19 (UniProtKB/Swiss-Prot),   P41180 (UniProtKB/Swiss-Prot),   A0A1X7SBX3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000418685   ⟸   ENST00000490131
Ensembl Acc Id: ENSP00000492190   ⟸   ENST00000638421
Ensembl Acc Id: ENSP00000491584   ⟸   ENST00000639785
Ensembl Acc Id: ENSP00000420194   ⟸   ENST00000498619
RefSeq Acc Id: XP_047305021   ⟸   XM_047449065
- Peptide Label: isoform X2
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204069   ⟸   XM_054348094
- Peptide Label: isoform X1
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204072   ⟸   XM_054348097
- Peptide Label: isoform X2
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204070   ⟸   XM_054348095
- Peptide Label: isoform X1
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204071   ⟸   XM_054348096
- Peptide Label: isoform X1
- UniProtKB: A0A1X7SBX3 (UniProtKB/TrEMBL)
Protein Domains
G-protein coupled receptors family 3 profile   GPCR family 3 nine cysteines   Receptor ligand binding region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P41180-F1-model_v2 AlphaFold P41180 1-1078 view protein structure

Promoters
RGD ID:6865416
Promoter ID:EPDNEW_H5873
Type:initiation region
Name:CASR_1
Description:calcium sensing receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383122,183,687 - 122,183,747EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1514 AgrOrtholog
COSMIC CASR COSMIC
Ensembl Genes ENSG00000036828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000490131 ENTREZGENE
  ENST00000498619 ENTREZGENE
  ENST00000498619.4 UniProtKB/Swiss-Prot
  ENST00000638421 ENTREZGENE
  ENST00000638421.1 UniProtKB/Swiss-Prot
  ENST00000639785 ENTREZGENE
  ENST00000639785.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.50.30 UniProtKB/Swiss-Prot
  3.40.50.2300 UniProtKB/Swiss-Prot
GTEx ENSG00000036828 GTEx
HGNC ID HGNC:1514 ENTREZGENE
Human Proteome Map CASR Human Proteome Map
InterPro ANF_lig-bd_rcpt UniProtKB/Swiss-Prot
  GPCR_3 UniProtKB/Swiss-Prot
  GPCR_3_9-Cys_dom UniProtKB/Swiss-Prot
  GPCR_3_9-Cys_sf UniProtKB/Swiss-Prot
  GPCR_3_C UniProtKB/Swiss-Prot
  GPCR_3_Ca_sens_rcpt-rel UniProtKB/Swiss-Prot
  GPCR_3_CS UniProtKB/Swiss-Prot
  Peripla_BP_I UniProtKB/Swiss-Prot
KEGG Report hsa:846 UniProtKB/Swiss-Prot
NCBI Gene 846 ENTREZGENE
OMIM 601199 OMIM
PANTHER EXTRACELLULAR CALCIUM-SENSING RECEPTOR UniProtKB/Swiss-Prot
  PTHR24061 UniProtKB/Swiss-Prot
Pfam 7tm_3 UniProtKB/Swiss-Prot
  ANF_receptor UniProtKB/Swiss-Prot
  NCD3G UniProtKB/Swiss-Prot
PharmGKB PA26097 PharmGKB
PRINTS CASENSINGR UniProtKB/Swiss-Prot
  GPCRMGR UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F3_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F3_2 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F3_3 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F3_4 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot
UniProt A0A1X7SBX3 ENTREZGENE, UniProtKB/TrEMBL
  B6VB31_HUMAN UniProtKB/TrEMBL
  CASR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13912 ENTREZGENE
  Q16108 ENTREZGENE
  Q16109 ENTREZGENE
  Q16110 ENTREZGENE
  Q16379 ENTREZGENE
  Q2F3K1_HUMAN UniProtKB/TrEMBL
  Q2F3K2_HUMAN UniProtKB/TrEMBL
  Q2F3K3_HUMAN UniProtKB/TrEMBL
  Q2F3K4_HUMAN UniProtKB/TrEMBL
  Q2F3K5_HUMAN UniProtKB/TrEMBL
  Q2F3K6_HUMAN UniProtKB/TrEMBL
  Q2M1T0 ENTREZGENE
  Q4PJ19 ENTREZGENE
  Q86UN7_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q13912 UniProtKB/Swiss-Prot
  Q16108 UniProtKB/Swiss-Prot
  Q16109 UniProtKB/Swiss-Prot
  Q16110 UniProtKB/Swiss-Prot
  Q16379 UniProtKB/Swiss-Prot
  Q2M1T0 UniProtKB/Swiss-Prot
  Q4PJ19 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 CASR  calcium sensing receptor  CASR  calcium-sensing receptor  Symbol and/or name change 5135510 APPROVED