Calcium-sensing receptor database (CASRdb)

A Publicly Accessible Comprehensive Database for Calcium-sensing Receptor (CASR) Variants Associated with Disorders of Calcium Metabolism

How to cite our website
Charoenngam N, Wattanachayakul P, Mannstadt M. CASRdb: A Publicly Accessible Comprehensive Database for Disease-associated Calcium-sensing Receptor Variants. The Journal of Clinical Endocrinology & Metabolism. 2024:dgae769.

Introduction

The calcium-sensing receptor (CaSR) is a 1,078 amino acid G protein-coupled receptor. It is highly expressed in the parathyroid glands and kidney where is responsible for regulating calcium homeostasis (1). Inactivating mutations in the CASR gene cause familial hypocalciuric hypercalcemia (FHH) type I and neonatal severe hyperparathyroidism, while activating mutations of the CASR result in autosomal dominant hypocalcemia (ADH) type I and autosomal dominant hypocalcemia with Bartter syndrome (previously known as Bartter syndrome type V) (1). Genetic testing of CASR is crucial for confirming the clinical diagnosis of these conditions. As the McGill’s CASRdb (2) is no longer available, there is currently a lack of a comprehensive database of variants of the CASR gene and their disease associations.

We created this website with the aim to present a publicly accessible comprehensive database with interactive visualization of the disease-causing variants of the CASR gene based on available literature and genomic databases. We hope that this CASRdb will be a comprehensive resource aiding clinicians in interpreting CASR variants and assisting researchers in variant curation and structure-function analyses.

References

1. Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Nat Rev Endocrinol. 2018;15(1):33-51.
2. Pidasheva S, D’Souza-Li L, Canaff L, Cole DE, Hendy GN. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat. 2004;24(2):107-11.

Methodology

We conducted a systematic review of the Embase and Pubmed databases from inception to March 2023, using a search strategy associated with “Calcium-sensing receptor”. Additionally, we identified supporting references for pathogenic or likely pathogenic variants reported in the ClinVar and LOVD databases. We compiled a comprehensive list of CASR variants associated with disorders of calcium metabolism. Benign or likely benign variants were excluded. Variants of uncertain significance in the ClinVar and LOVD databases were included only if they were reported in the literature to be associated with disorders of the CaSR. This list has been made available on this website equipped with a search engine and links to the respective references.

Gene Structure

Abbreviations: SP: Signal Peptide; VFT: Venus Flytrap Domain; LB1: Lobe 1; LB2: Lobe 2; CRD: Cysteine-rich Domain; TMD: Transmembrane Domain; ECL1: Extracellular Loop 1; ECL2: Extracellular Loop 2; ECL3: Extracellular Loop 3; ICL1: Intracellular Loop 1; ICL2: Intracellular Loop 2; ICL3: Intracellular Loop 3; ICD: Intracellular Domain

Protein Structure

Image retrieved from the RCSB Protein Data Bank
Structure of calcium-sensing receptor in complex with evocalcet, a calcimimetics
and derivative of cinacalcet. Protomer 1 in green, Protomer 2 in orange.
Explore more in 3D: Structure | Sequence Annotations | Ligand Interaction

Image retrieved from the Electron Microscopy Data Bank
Cryo-EM structure of human calcium-sensing receptor-Gi complex in lipid nanodiscs
Protomer 1 in pink, Protomer 2 in green, Gαi in orange, Gβ in light purple, Gγ in blue.
View 3D structure

Abbreviations: LB1: Lobe 1; LB2: Lobe 2; VFT:  Venus Flytrap Domain; CRD: Cysteine-rich Domain; TMDs: Transmembrane Domains

CASRdb

Scroll horizontally to view the remaining columns of the table.

Search by variant details to filter the table below (e.g., c.1A>G, p.Met1Val).

cDNA PositionVariantAmino acid changeAmino acid changeVariant effectClinical phenotypeGenomic co-ordinaters numberVariant typeEffect typeLocation (gene)Location (protein)Pathogenicity reported in ClinVarArticle first authorYearPMIDDOI/linkArticle type
1c.1A>GM1Vp.Met1ValInactivatingFHH1122254190NASNVMissenseExon 2ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1321411/?oq=%22NM_000388.4(CASR):c.1A%3EG%20(p.Met1Val)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1A%3EG%20(p.Met1Val)#id_secondClinvar
2c.2T>GM1Rp.Met1ArgInactivatingFHH1 (heterozygous)122254191NASNVMissenseExon 2ECDNAde Andrade20061712153710.1111/j.1365-2265.2006.02640.xJournal article
2c.2T>GM1Rp.Met1ArgInactivatingNSHPT (homozygous)122254191NASNVMissenseExon 2ECDNAde Andrade20061712153710.1111/j.1365-2265.2006.02640.xJournal article
19c.19_20insTC7fs*41p.Cys7fs*41InactivatingFHH1 (heterozygous)122254208NASmall insertionFrameshiftExon 2ECDNAD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
19c.19_20insTC7fs*41p.Cys7fs*41InactivatingFHH1122254208NASmall insertionFrameshiftExon 2ECDNACole20091917945410.1677/JME-08-0164Journal article
23c.23G>AW8*p.Trp8*InactivatingFHH1122254212NASNVNonsenseExon 2ECDLikely pathogenicVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
32c.32T>CL11Sp.Leu11SerInactivatingFHH1122254221rs200673016SNVMissenseExon 2ECDVUSPidasheva20051587943410.1093/hmg/ddi176Journal article
38c.38T>CL13Pp.Leu13ProInactivatingFHH1122254227rs104893717SNVMissenseExon 2ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
38c.38T>CL13Pp.Leu13ProInactivatingFHH1122254227rs104893717SNVMissenseExon 2ECDPathogenicMiyashiro20041557974010.1210/jc.2004-1046Journal article
38c.38T>CL13Pp.Leu13ProInactivatingFHH1122254227rs104893717SNVMissenseExon 2ECDPathogenicPidasheva20051587943410.1093/hmg/ddi176Journal article
61c.61G>AG21Rp.Gly21ArgInactivatingFHH1 (heterozygous)122254250rs1064794290SNVMissenseExon 2ECDVUSNissen20071769891110.1210/jc.2007-0322Journal article
69c.69C>AD23Ep.Asp23GluActivatingADH1122254258NASNVMissenseExon 2ECDNADershem20203238655910.1016/j.ajhg.2020.04.006Journal article
73c.73C>TR25*p.Arg25*InactivatingFHH1 (heterozygous)122254262rs201633414SNVNonsenseExon 2ECDVUS/Likely pathogenic/PathogenicArshad20213289215910.1136/postgradmedj-2020-137718Journal article
73c.73C>TR25*p.Arg25*InactivatingFHH1 (heterozygous)122254262rs201633414SNVMissenseExon 2ECDVUS/Likely pathogenic/PathogenicFrank-Raue20112152132810.1111/j.1365-2265.2011.04059.xJournal article
73c.73C>TR25*p.Arg25*InactivatingFHH1 (heterozygous)122254262rs201633414SNVMissenseExon 2ECDVUS/Likely pathogenic/PathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
73c.73C>TR25*p.Arg25*InactivatingFHH1 (heterozygous)122254262rs201633414SNVNonsenseExon 2ECDVUS/Likely pathogenic/PathogenicHannan20122242276710.1093/hmg/dds105Journal article
73c.73C>TR25*p.Arg25*InactivatingNSHPT (homozygous)122254262rs201633414SNVNonsenseExon 2ECDVUS/Likely pathogenic/PathogenicHannan20122242276710.1093/hmg/dds105Journal article
73c.73C>TR25*p.Arg25*InactivatingFHH1 (heterozygous)122254262rs201633414SNVNonsenseExon 2ECDVUS/Likely pathogenic/PathogenicWard20061664998010.1111/j.1365-2265.2006.02512.xJournal article
76c.76G>TA26Sp.Ala26SerInactivatingFHH1 (heterozygous)122254265NASNVMissenseExon 2ECDNASalas2017NA10.1016/j.labcli.2017.03.001Journal article
79c.79C>GQ27Ep.Gln27GluActivatingADH1122254268NASNVMissenseExon 2ECDNAChapman2010NA10.1159/000321348Conference abstract
79c.79C>GQ27Ep.Gln27GluActivatingADH1122254268NASNVMissenseExon 2ECDNAGorvin20182946377810.1126/scisignal.aan3714Journal article
80c.80A>GQ27Rp.Gln27ArgInactivatingFHH1 (homozygous)122254269NASNVMissenseExon 2ECDNAChikatsu19991046891510.1046/j.1365-2265.1999.00729.xJournal article
80c.80A>CQ27Pp.Gln27ProInactivatingFHH1122254269NASNVMissenseExon 2ECDNAGorvin20183005293310.1093/hmg/ddy263Journal article
80c.80A>GQ27Rp.Gln27ArgInactivatingFHH1122254269NASNVMissenseExon 2ECDNAGorvin20183005293310.1093/hmg/ddy263Journal article
85c.85A>GK29Ep.Lys29GluActivatingADH1122254274rs397514729SNVMissenseExon 2ECDPathogenicHu 20041500584510.1359/JBMR.040106Journal article
85c.85A>GK29Ep.Lys29GluActivatingADH1122254274rs397514729SNVMissenseExon 2ECDPathogenicLetz20142550694110.1371/journal.pone.0115178Journal article
85c.85A>GK29Ep.Lys29GluActivatingADH1 with Bartter syndrome122254274rs397514729SNVMissenseExon 2ECDPathogenicVezzoli200617048213NAJournal article
91c.91dupD31fs*p.Asp31fs*InactivatingFHH1122254275NASmall insertionFrameshiftExon 2ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1217243/?oq=%22NM_000388.4(CASR):c.91dup%20(p.Asp31fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.91dup%20(p.Asp31fs)#id_secondClinvar
94c.94A>GI32Vp.Ile32ValInactivatingFHH1 (heterozygous)122254283NASNVMissenseExon 2ECDVUSSzalat20152509152110.1007/s12020-014-0370-3Journal article
94c.94A>GI32Vp.Ile32ValInactivatingFHH1 (heterozygous)122254283NASNVMissenseExon 2ECDVUSSzalat20172817628010.1007/s12020-017-1241-5Journal article
108c.108_109insCL37A*fs11p.Leu37Alafs*11InactivatingFHH1 (heterozygous)122254297NASmall insertionFrameshiftExon 2ECDNAGurtunca2012NAGurtunca N, Yesilkaya E, Witchel S. A novel mutation in familial hypocalciuric hypercalcemia presenting in early infancy with irritability and mild hypercalcemia. Endocrine Reviews. 2012;33(3).Conference abstract
108c.108delL37fs*p.Leu37fs*InactivatingFHH1122254292NASmall deletionFrameshiftExon 2ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1321439/?oq=%22NM_000388.4(CASR):c.108del%20(p.Leu37fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.108del%20(p.Leu37fs)#id_secondClinvar
108c.108dupL37fs*p.Leu37fs*NANA122254291rs886041823Small insertionFrameshiftExon 2ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/280657/?oq=%22NM_000388.4(CASR):c.108dup%20(p.Leu37fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.108dup%20(p.Leu37fs)#id_secondClinvar
110c.110T>CL37Pp.Leu37ProInactivatingFHH1122254299NASNVMissenseExon 2ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
112c.112_113insF38fs*p.Phe38fs*NANA122254301NASmall insertionFrameshiftExon 2ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1460173/?oq=%22NM_000388.4(CASR):c.112_113insC%20(p.Phe38fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.112_113insC%20(p.Phe38fs)#id_secondClinvar
115c.115C>GP39Ap.Pro39AlaInactivatingNSHPT (homozygous)122254304rs121909262SNVMissenseExon 2ECDPathogenicAbdullayev20203193145110.1016/j.ijscr.2019.12.024Journal article
115c.115C>GP39Ap.Pro39AlaInactivatingFHH1 (homozygous)122254304rs121909262SNVMissenseExon 2ECDPathogenicChikatsu19991046891510.1046/j.1365-2265.1999.00729.xJournal article
115c.115C>GP39Ap.Pro39AlaInactivatingFHH1122254304rs121909262SNVMissenseExon 2ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
118c.118A>TI40Fp.Ile40PheInactivatingFHH1122254307NASNVMissenseExon 2ECDNAVargas-Poussou20021219197010.1097/01.asn.0000025781.16723.68Journal article
122c.122A>GH41Rp.His41ArgInactivatingFHH1 (heterozygous)122254311NASNVMissenseExon 2ECDNACourtney20223653636710.1186/s12902-022-01231-zJournal article
125c.125T>CF42Sp.Phe42SerInactivatingFHH1122254314rs1553765909SNVMissenseExon 2ECDVUSCole20091917945410.1677/JME-08-0164Journal article
139c.139A>GK47Ep.Lys47GluInactivatingFHH1122254328NASNVMissenseExon 2ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1685601/?oq=%22NM_000388.4(CASR):c.139A%3EG%20(p.Lys47Glu)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.139A%3EG%20(p.Lys47Glu)#id_secondClinvar
141c.141A>CK47Np.Lys47AsnActivatingADH1122254330rs104893702SNVMissenseExon 2ECDPathogenicKinoshika20132429779910.1210/jc.2013-3430Journal article
141c.141A>CK47Np.Lys47AsnActivatingADH1122254330rs104893702SNVMissenseExon 2ECDPathogenicOkazaki1999992010810.1210/jcem.84.1.5385Journal article
152c.152T>GL51Rp.Leu51ArgInactivatingFHH1122254341NASNVMissenseExon 2ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
157c.157T>CS53Pp.Ser53ProInactivatingFHH1 (heterozygous)122254346NASNVMissenseExon 2ECDPathogenicAlix20142544408710.1016/j.jbspin.2014.08.007Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicGuarnieri20102016428810.1210/jc.2008-2430Journal article
164c.164C>TP55Rp.Pro55ArgInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicLópez20112169701810.1016/j.endonu.2011.04.004Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1122254353rs886041154SNVMissenseExon 2ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicMariathasan20203243090510.1111/cen.14254Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1122254353rs886041154SNVMissenseExon 2ECDPathogenicMouly20193234797110.1111/cen.14211Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicQuarde2021NA10.1016/j.jecr.2021.100093Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicPearce1995867563510.1172/JCI118335Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicSpeer20031471427010.1055/s-2003-44708Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1 (heterozygous)122254353rs886041154SNVMissenseExon 2ECDPathogenicSumida20223573320710.1186/s12902-022-01077-5Journal article
164c.164C>TP55Lp.Pro55LeuInactivatingFHH1122254353rs886041154SNVMissenseExon 2ECDPathogenicCole20091917945410.1677/JME-08-0164Journal article
166c.166delE56fs*p.Glu56fs*InactivatingFHH1122254354rs193922424Small deletionFrameshiftExon 2ECDPathogenic/Likely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35779/?oq=%22NM_000388.4(CASR):c.166del%20(p.Glu56fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.166del%20(p.Glu56fs)#id_secondClinvar
166c.166G>TE56*p.Glu56*NANA122254355rs1358793834SNVNonsenseExon 2ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/838073/?oq=%22NM_000388.4(CASR):c.166G%3ET%20(p.Glu56Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.166G%3ET%20(p.Glu56Ter)#id_firstClinvar
168c.168G>CE56Dp.Glu56AspInactivatingFHH1 (heterozygous)122254357NASNVMissenseExon 2ECDNAPark20223558662610.3389/fendo.2022.853171Journal article
178c.178T>CC60Rp.Cys60ArgInactivatingFHH1 (heterozygous)122254367NASNVMissenseExon 2ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
178c.178T>GC60Gp.Cys60GlyInactivatingFHH1 (homozygous)122254367NASNVMissenseExon 2ECDNALi20213439758710.1097/CM9.0000000000001568Journal article
179c.179G>TC60Fp.Cys60PheInactivatingFHH1 (heterozygous)122254368rs772906030SNVMissenseExon 2ECDVUSArshad20213289215910.1136/postgradmedj-2020-137718Journal article
179c.179G>AC60Yp.Cys60TyrInactivatingFHH1 (heterozygous)122254368NASNVMissenseExon 2ECDNADong2020NA10.3760/cma.j.cn511374-20191118-00587Journal article
179c.179G>AC60Yp.Cys60TyrInactivatingNSHPT (compound heterozygous)122254368NASNVMissenseExon 2ECDNADong2020NA10.3760/cma.j.cn511374-20191118-00587Journal article
179c.179G>TC60Fp.Cys60PheInactivatingNSHPT (compound heterozygous)122254368rs772906030SNVMissenseExon 2ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
185c.185G>TR62Mp.Arg62MetInactivatingFHH1122254374rs121909265SNVMissenseExon 2ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
185c.185G>TR62Mp.Arg62MetInactivatingFHH1 (heterozygous)122254374rs121909265SNVMissenseExon 2ECDPathogenicChou19957726161NAJournal article
185c.185+1G>CNANAInactivatingFHH1 (heterozygous)122254375NASNVSplice donorExon 2-Intron 2 splice siteECDNACetani20091907383010.1530/EJE-08-0798Journal article
185c.185+2T>CNANAInactivatingFHH1122254376NASNVSplice donorExon 2-Intron 2 splice siteECDNANissen20193143386510.1111/cen.14078Journal article
186c186-1G>TR62_164delfs*94p.Arg62_164delfs*94InactivatingFHH1 (heterozygous)122257080rs797044441SNVSplice acceptor/frameshiftIntron 2-Exon 3 splice siteECDPathogenicD’'Souza-Li20011166863410.1002/humu.1212Journal article
186c.186delR62Sfs*13p.Arg62Serfs*13InactivatingFHH1122257081NASmall deletionFrameshiftExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
190c.190A>GN64Dp.Asn64AspInactivatingFHH1122257085NASNVMissenseExon 3ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1698732/?oq=%22NM_000388.4(CASR):c.190A%3EG%20(p.Asn64Asp)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.190A%3EG%20(p.Asn64Asp)#id_secondClinvar
196c.196C>TR66Cp.Arg66CysInactivatingFHH1 (heterozygous)122257091rs121909266SNVMissenseExon 3ECDLikely pathogenicChou19957726161NAJournal article
196c.196C>TR66Cp.Arg66CysInactivatingFHH1122257091rs121909266SNVMissenseExon 3ECDLikely pathogenicPidasheva20061674059410.1093/hmg/ddl145Journal article
197c.197G>AR66Hp.Arg66HisInactivatingFHH1 (heterozygous)122257092rs1276839362SNVMissenseExon 3ECDPathogenic/Likely pathogenicMisof2012NA10.1016/j.bone.2012.08.049Conference abstract
197c.197G>AR66Hp.Arg66HisInactivatingFHH1122257092rs1276839362SNVMissenseExon 3ECDPathogenic/Likely pathogenicMouly20193234797110.1111/cen.14211Journal article
197c.197G>AR66Hp.Arg66HisInactivatingFHH1122257092rs1276839362SNVMissenseExon 3ECDPathogenic/Likely pathogenicCole20091917945410.1677/JME-08-0164Journal article
197c.197G>AR66Hp.Arg66HisInactivatingFHH1122257092rs1276839362SNVMissenseExon 3ECDPathogenic/Likely pathogenicPidasheva20061674059410.1093/hmg/ddl145Journal article
199c.199delinsTTCGG67fs*p.Gly67fs*NANA122257094rs1559956508Small insertion/deletionFrameshiftExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/574086/?oq=%22NM_000388.4(CASR):c.199delinsTTCGCT%20(p.Gly67fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.199delinsTTCGCT%20(p.Gly67fs)#id_secondClinvar
200c.200G>TG67Vp.Gly67ValInactivatingFHH1122257095NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
205c.205C>TR69Cp.Arg69CysInactivatingFHH1122257100NASNVMissenseExon 3ECDVUSGreenberg2017NAGreenberg H, Probst-Riordan J. Familial hypocalciuric hypercalcemia: A novel mutation. Endocrine Reviews. 2017;38(3).Conference abstract
205c.205C>GR69Cp.Arg69CysInactivatingFHH1 (heterozygous)122257100NASNVMissenseExon 3ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
205c.205C>TR69Cp.Arg69CysInactivatingFHH1122257100NASNVMissenseExon 3ECDVUSNissen20193143386510.1111/cen.14078Journal article
206c.206G>AR69Hp.Arg69HisInactivatingFHH1 (heterozygous)122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityCorrado20152582895410.1002/jbmr.2516Journal article
206c.206G>AR69Hp.Arg69HisInactivatingNSHPT (compound heterozygous)122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityCorrado20152582895410.1002/jbmr.2516Journal article
206c.206G>AR69Hp.Arg69HisInactivatingFHH1 (heterozygous)122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityHaider2022NA10.1159/000518849Conference abstract
206c.206G>AR69Hp.Arg69HisInactivatingFHH1122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityKhairi 20203276134110.1007/s12672-020-00394-2Journal article
206c.206G>AR69Hp.Arg69HisInactivatingFHH1 (heterozygous)122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityPatrick-Esteve2015NA10.1097/JIM.0000000000000146Conference abstract
206c.206G>AR69Hp.Arg69HisInactivatingNSHPT (homozygous)122257101rs193922432SNVMissenseExon 3ECDConflicting interpretations of pathogenicityWilhelm-Bals20122233133410.1542/peds.2011-0128Journal article
209c.209G>AW70*p.Trp70*NANA122257104NASNVNonsenseExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1177515/?oq=%22NM_000388.4(CASR):c.209G%3EA%20(p.Trp70Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.209G%3EA%20(p.Trp70Ter)#id_secondClinvar
212c.212T>GL71*p.Leu71*InactivatingFHH1 (heterozygous)122257107NASNVNonsenseExon 3ECDNABhangu20183055444010.1002/hed.25568Journal article
212c.212T>GL71*p.Leu71*InactivatingFHH1 (heterozygous)122257107NASNVNonsenseExon 3ECDNABhangu20223524266510.21037/gs-21-577Journal article
220c.220A>GM74Vp.Met74ValInactivatingFHH1122257115NASNVMissenseExon 3ECDVUSMouly20193234797110.1111/cen.14211Journal article
220c.220A>GM74Vp.Met74ValInactivatingFHH1122257115NASNVMissenseExon 3ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
222c.222_226delGATATM74Ifs*24p.Met74Ilefs*24InactivatingFHH1 (heterozygous)122257117NASmall deletionFrameshiftExon 3ECDNAAtay20142473597210.1016/j.bone.2014.04.010Journal article
222c.222_226delGATATM74Ifs*24p.Met74Ilefs*24InactivatingNSHPT (homozygous)122257117NASmall deletionFrameshiftExon 3ECDNAAtay20142473597210.1016/j.bone.2014.04.010Journal article
222c.222_226delGATATM74Ifs*24p.Met74Ilefs*24InactivatingNSHPT (homozygous)122257117NASmall deletionFrameshiftExon 3ECDNAÇömlek20223539904710.5114/pedm.2022.115070Journal article
222c.222_226delGATATM74Ifs*24p.Met74Ilefs*24InactivatingFHH1 (heterozygous)122257117NASmall deletionFrameshiftExon 3ECDNAÖzgüç Çömlek20223539904710.5114/pedm.2022.115070Journal article
230c.230C>TA77Vp.Ala77ValInactivatingFHH1122257125NASNVMissenseExon 3ECDNAMouly20193234797110.1111/cen.14211Journal article
230c.230C>TA77Vp.Ala77ValInactivatingFHH1122257125NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
240c.240G>TE80Dp.Glu80AspInactivatingFHH1122257135NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
242c.242T>AI81Kp.Ile81LysInactivatingFHH1122257137NASNVMissenseExon 3ECDNAJoseph2022NAhttps://jme.bioscientifica.com/abstract/journals/jme/69/1/JME-21-0263.xmlJournal article
243c.243A>GI81Mp.Ile81MetInactivatingFHH1122257138NASNVMissenseExon 3ECDNACole20091917945410.1677/JME-08-0164Journal article
246c.246C>GN82Kp.Asn82LysInactivatingFHH1122257141NASNVMissenseExon 3ECDNANissen20193143386510.1111/cen.14078Journal article
246c.246C>GN82Kp.Asn82LysInactivatingFHH1122257141NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
272c.272T>AL91*p.Leu91*InactivatingFHH1122257167NASNVNonsenseExon 3ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
280c.280G>CG94Rp.Gly94ArgInactivatingFHH1122257175NASNVMissenseExon 3ECDNANissen20193143386510.1111/cen.14078Journal article
280c.280G>TG94*p.Gly94*InactivatingNSHPT (compound heterozygous)122257175rs104893705SNVNonsenseExon 3ECDVUS/PathogenicWard20041529229610.1210/jc.2003-031653Journal article
281c.281G>AG94Ep.Gly94GluInactivatingNSHPT (homozygous)122257176rs1576854356SNVMissenseExon 3ECDVUSSolovitz2019NA10.1159/000501868Conference abstract
284c.284A>GY95Cp.Tyr95CysInactivatingFHH1122257179rs1060502850SNVMissenseExon 3ECDVUSNissen20193143386510.1111/cen.14078Journal article
295c.295G>CD99Hp.Asp99HisInactivatingNSHPT (homozygous)122257190NASNVMissenseExon 3ECDNAHaider2022NA10.1159/000518849Conference abstract
295c.295G>CD99Hp.Asp99HisInactivatingNSHPT (homozygous)122257190NASNVMissenseExon 3ECDNAShaukat2022NA10.47391/JPMA.4195Journal article
299c.299C>TT100Ip.Thr100IleInactivatingFHH1 (heterozygous)122257194NASNVMissenseExon 3ECDNAWarner20041498537310.1136/jmg.2003.016725Journal article
301c.301T>CC101Rp.Cys101ArgInactivatingFHH1122257196NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
303c.303C>GC101Wp.Cys101TrpInactivatingFHH1 (heterozygous)122257198NASNVMissenseExon 3ECDNACetani2019NACetani F, Borsari S, Pardi E, Biagioni T, Bagattini B, Saponaro F, et al. Functional characterization of four mutations of the calcium sensing receptor gene identified in patients with familial hypocalciuric hypercalcemia type 1. Journal of Bone and Mineral Research. 2019;34:312.Conference abstract
303c.303C>GC101Wp.Cys101TrpInactivatingFHH1122257198NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
310c.310G>AV104Ip.Val104IleActivatingADH1122257205rs2074564250SNVMissenseExon 3ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
319c.319G>AA107Tp.Ala107ThrInactivatingFHH1122257214NASNVMissenseExon 3ECDNAMouly20193234797110.1111/cen.14211Journal article
323c.323delL108fs*p.Leu108fs*NANA122257217rs1559956616Small deletionFrameshiftExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/598322/?oq=%22NM_000388.4(CASR):c.323del%20(p.Leu108fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.323del%20(p.Leu108fs)Clinvar
328c.328G>AA110Tp.Ala110ThrInactivatingFHH1122257223NASNVMissenseExon 3ECDNANakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
328c.328G>AA110Tp.Ala110ThrInactivatingFHH1122257223NASNVMissenseExon 3ECDNANakamura20132396624110.1210/jc.2013-1974Journal article
329c.329C>AA110Dp.Ala110AspInactivatingFHH1 (heterozygous)122257224rs1559956624SNVMissenseExon 3ECDVUSArshad20213289215910.1136/postgradmedj-2020-137718Journal article
329c.329C>AA110Dp.Ala110AspInactivatingFHH1 (heterozygous)122257224NASNVMissenseExon 3ECDVUSBletsis20223618913410.1016/j.aace.2022.05.002Journal article
344c.344_358delTTGCTCAAAACAAAAA116_I120delp.Ala116_I120delActivatingADH1122257239NASmall deletionDeletionExon 3ECDNASozaeva2022NA10.24110/0031-403X-2022-101-6-186-191Journal article
346c.346G>CA116Pp.Ala116ProActivatingADH1122257241NASNVMissenseExon 3ECDNAChapman2010NA10.1159/000321348Conference abstract
346c.346G>CA116Pp.Ala116ProActivatingADH1122257241NASNVMissenseExon 3ECDNAHannan20122242276710.1093/hmg/dds105Journal article
346c.346G>AA116Tp.Ala116ThrActivatingADH1122257241rs104893691SNVMissenseExon 3ECDLikely pathogenicBaron1996873312610.1093/hmg/5.5.601Journal article
349c.349C>TQ117*p.Gln117*NANA122257244NASNVNonsenseExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1451604/?oq=%22NM_000388.4(CASR):c.349C%3ET%20(p.Gln117Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.349C%3ET%20(p.Gln117Ter)#id_secondClinvar
354c.354C>AN118Kp.Asn118LysActivatingADH1122257249rs104893695SNVMissenseExon 3ECDPathogenicHu20021216250010.1359/jbmr.2002.17.8.1461Journal article
354c.354C>AN118Kp.Asn118LysActivatingADH1122257249rs104893695SNVMissenseExon 3ECDPathogenicPearce1996881304210.1056/NEJM199610103351505Journal article
354c.354C>AN118Kp.Asn118LysActivatingADH1122257249rs104893695SNVMissenseExon 3ECDPathogenicCole20091917945410.1677/JME-08-0164Journal article
356c.356A>TK119Ip.Lys119IleActivatingADH1122257251NASNVMissenseExon 3ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
357c.357_358delK119fs*p.Lys119fs*NANA122257250NASmall deletionFrameshiftExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1453750/?oq=%22NM_000388.4(CASR):c.357_358del%20(p.Lys119fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.357_358del%20(p.Lys119fs)#id_secondClinvar
361c.361_364delGATTD121fs*2p.Asp121fs*2InactivatingFHH1 (heterozygous)122257256NASmall deletionFrameshiftExon 3ECDNAFalchetti20122231535910.1530/EJE-11-0953Journal article
365c.365C>GS122Cp.Ser122CysActivatingADH1122257260NASNVMissenseExon 3ECDNANakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
365c.365C>GS122Cp.Ser122CysActivatingADH1122257260NASNVMissenseExon 3ECDNANakamura20132396624110.1210/jc.2013-1974Journal article
367c.367T>AL123Mp.Leu123MetActivatingADH1122257262NASNVMissenseExon 3ECDVUSGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
368c.368T>CL123Sp.Leu123SerActivatingADH1122257263NASNVMissenseExon 3ECDNAFestas Silva20213486606010.1530/EDM-21-0005Journal article
368c.368T>CL123Sp.Leu123SerActivatingADH1122257263NASNVMissenseExon 3ECDNAPapadopoulou20172874250810.14310/horm.2002.1734Journal article
368c.368T>CL123Sp.Leu123SerActivatingADH1122257263NASNVMissenseExon 3ECDNARegala20152761711310.1055/s-0035-1554979Journal article
372c.372C>AN124Kp.Asn124LysActivatingADH1122257267NASNVMissenseExon 3ECDVUSRanieri20132424443010.1371/journal.pone.0079113Journal article
372c.372C>AN124Kp.Asn124LysActivatingADH1122257267NASNVMissenseExon 3ECDVUSSchouten20112144139110.1258/acb.2010.010139Journal article
373c.373C>TL125Fp.Leu125PheActivatingADH1122257268NASNVMissenseExon 3ECDNACole20091917945410.1677/JME-08-0164Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1122257269NASNVMissenseExon 3ECDPathogenicHauche20001108954810.1210/endo.141.11.7753Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1122257269NASNVMissenseExon 3ECDPathogenicHu20021216250010.1359/jbmr.2002.17.8.1461Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1 with Bartter syndrome122257269NASNVMissenseExon 3ECDPathogenicLetz20142550694110.1371/journal.pone.0115178Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1122257269NASNVMissenseExon 3ECDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1122257269NASNVMissenseExon 3ECDPathogenicSato20021210720210.1210/jcem.87.7.8639Journal article
374c.374T>CL125Pp.Leu125ProActivatingADH1122257269NASNVMissenseExon 3ECDPathogenicVargas-Poussou20021219197010.1097/01.asn.0000025781.16723.68Journal article
377c.377A>TD126Vp.Asp126ValActivatingADH1122257272rs1553766257SNVMissenseExon 3ECDVUSRasmussen20182974387810.3389/fendo.2018.00200Journal article
379c.379G>AE127Kp.Glu127LysActivatingADH1122257274rs104893710SNVMissenseExon 3ECDPathogenicHawkes20203311226710.1530/EJE-20-0710Journal article
379c.379G>AE127Kp.Glu127LysActivatingADH1122257274rs104893710SNVMissenseExon 3ECDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
379c.379G>AE127Kp.Glu127LysActivatingADH1122257274rs104893710SNVMissenseExon 3ECDPathogenicWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
380c.380A>GE127Gp.Glu127GlyActivatingADH1122257275rs121909260SNVMissenseExon 3ECDLikely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
380c.380A>CE127Ap.Glu127AlaActivatingADH1122257275rs121909260SNVMissenseExon 3ECDPathogenicLoseva2018NALoseva V, Mulloy AL, Sinnott BP. Autosomal dominant hypocalcemia: An important but often unrecognized cause of hypoparathyroidism. Endocrine Reviews. 2018;39(2).Conference abstract
380c.380A>CE127Ap.Glu127AlaActivatingADH1122257275rs121909260SNVMissenseExon 3ECDPathogenicPollak1994787417410.1038/ng1194-303Journal article
382c.382T>CF128Lp.Phe128LeuActivatingADH1122257277rs104893696SNVMissenseExon 3ECDPathogenicRaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
383c.383T>GF128Cp.Phe128CysActivatingADH1122257278NASNVMissenseExon 3ECDNAWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
384c.384C>AF128Lp.Phe128LeuActivatingADH1122257279rs1553766262SNVMissenseExon 3ECDPathogenicPearce1996881304210.1056/NEJM199610103351505Journal article
385c.385T>AC129Sp.Cys129SerActivatingADH1122257280NASNVMissenseExon 3ECDNAHirai20011128971910.1007/s100380170124Journal article
385c.385T>CC129Rp.Cys129ArgActivatingADH1122257280NASNVMissenseExon 3ECDNACole20091917945410.1677/JME-08-0164Journal article
386c.386G>AC129Yp.Cys129TyrActivatingADH1122257281rs2074565392SNVMissenseExon 3ECDPathogenicBurren20051612824610.1515/jpem.2005.18.7.689Journal article
386c.386G>CC129Sp.Cys129SerActivatingADH1122257281NASNVMissenseExon 3ECDNAKurozumi20132404251610.2169/internalmedicine.52.8375Journal article
386c.386G>TC129Fp.Cys129PheActivatingADH1122257281NASNVMissenseExon 3ECDNALienhardt20011170169810.1210/jcem.86.11.8016Journal article
386c.386G>AC129Yp.Cys129TyrActivatingADH1122257281rs2074565392SNVMissenseExon 3ECDPathogenicSchouten20112144139110.1258/acb.2010.010139Journal article
391c.391T>AC131Rp.Cys131ArgActivatingADH1122257286NASNVMissenseExon 3ECDNAHannan20122242276710.1093/hmg/dds105Journal article
392c.392G>AC131Yp.Cys131TyrActivatingADH1122257287NASNVMissenseExon 3ECDNAChen2017NA10.1159/000481424Conference abstract
392c.392G>AC131Yp.Cys131TyrActivatingADH1122257287NASNVMissenseExon 3ECDNAHannan20122242276710.1093/hmg/dds105Journal article
392c.392G>TC131Fp.Cys131PheActivatingADH1122257287NASNVMissenseExon 3ECDNASuzuki20051596015110.5414/CNP63481Journal article
392c.392G>AC131Yp.Cys131TyrActivatingADH1122257287NASNVMissenseExon 3ECDNAThim20142503954010.1111/apa.12743Conference abstract
392c.393C>GC131Wp.Cys131TrpActivatingADH1 with Bartter syndrome122257288rs121909267SNVMissenseExon 3ECDPathogenicWatanabe20021224187910.1016/S0140-6736(02)09842-2Journal article
393c.393C>GC131Wp.Cys131TrpActivatingADH1 with Bartter syndrome122257288rs121909267SNVMissenseExon 3ECDPathogenicKinoshika20132429779910.1210/jc.2013-3430Journal article
393c.393C>GC131Wp.Cys131TrpActivatingADH1 with Bartter syndrome122257288rs121909267SNVMissenseExon 3ECDPathogenicLetz20142550694110.1371/journal.pone.0115178Journal article
398c.398A>TE133Vp.Glu133ValActivatingADH1122257293NASNVMissenseExon 3ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
398c.398A>TE133Vp.Glu133ValActivatingADH1122257293NASNVMissenseExon 3ECDNATan20223587082310.1016/j.kint.2022.02.014Conference abstract
407c.407C>TP136Lp.Pro136LeuActivatingADH1122257302NASNVMissenseExon 3ECDNAFinn2012NA10.1136/archdischild-2012-301885.291Journal article
407c.407C>TP136Lp.Pro136LeuActivatingADH1122257302NASNVMissenseExon 3ECDNAGupta2012NA10.1159/000343182Conference abstract
408c.408C>TP136Lp.Pro136LeuActivatingADH1122257303NASNVMissenseExon 3ECDNABaran20152576650110.1016/j.mce.2015.02.021Journal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1 (heterozygous)122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicAlam20213530044810.4103/ijem.ijem_349_21Journal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1 (heterozygous)122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1 (heterozygous)122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1 (heterozygous)122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicRosen2017NARosen SG. Pregnancy complicated by hypocalciuric hypercalcemia. Endocrine Reviews. 2017;38(3).Conference abstract
413c.413C>TT138Mp.Thr138MetInactivatingFHH1 (heterozygous)122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicChou19957726161NAJournal article
413c.413C>TT138Mp.Thr138MetInactivatingFHH1122257308rs121909263SNVMissenseExon 3ECDLikely pathogenicCole20091917945410.1677/JME-08-0164Journal article
416c.416T>CI139Tp.Ile139ThrActivatingADH1122257311rs1060502860SNVMissenseExon 3ECDVUSGuo20223693558010.1515/jpem-2022-0623Journal article
416c.416T>CI139Tp.Ile139ThrActivatingADH1122257311rs1060502860SNVMissenseExon 3ECDVUSWu20223581812910.1177/03000605221110489Journal article
416c.416T>CI139Tp.Ile139ThrActivatingADH1122257311rs1060502860SNVMissenseExon 3ECDVUSZung20233681289610.1159/000529833Journal article
419c.419C>TA140Vp.Ala140ValInactivatingFHH1122257314NASNVMissenseExon 3ECDNAMouly20193234797110.1111/cen.14211Journal article
419c.419C>TA140Vp.Ala140ValInactivatingFHH1122257314NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
422c.422T>CV141Ap.Val141AlaInactivatingFHH1122257317rs1085307643SNVMissenseExon 3ECDVUSNissen20193143386510.1111/cen.14078Journal article
427c.427G>AG143Rp.Gly143ArgInactivatingFHH1 (heterozygous)122257322rs769256610SNVMissenseExon 3ECDLikely pathogenicMariathasan20203243090510.1111/cen.14254Journal article
427c.427G>CG143Rp.Gly143ArgInactivatingFHH1122257322NASNVMissenseExon 3ECDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
427c.427G>CG143Rp.Gly143ArgInactivatingFHH1122257322NASNVMissenseExon 3ECDLikely pathogenicCole20091917945410.1677/JME-08-0164Journal article
428c.428G>AG143Ep.Gly143GluInactivatingFHH1 (heterozygous)122257323rs121909264SNVMissenseExon 3ECDPathogenic/Likely pathogenicChou19957726161NAJournal article
434c.434C>TT145Ip.Thr145IleInactivatingFHH1122257329NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
437c.437G>AG146Dp.Gly146AspInactivatingFHH1 (heterozygous)122257332NASNVMissenseExon 3ECDVUSCarllson20193089516410.1155/2019/9468252Journal article
439c.439C>TS147Lp.Ser147LeuInactivatingFHH1 (heterozygous)122257334NASNVMissenseExon 3ECDNAMajumdar20183306234910.1155/2020/8752610Journal article
448c.448_449dupT151fs*p.Thr151fs*NANA122257340rs1576854561Small insertionFrameshiftExon 3ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/664654/?oq=%22NM_000388.4(CASR):c.448_449dup%20(p.Thr151fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.448_449dup%20(p.Thr151fs)#id_secondClinvar
449c.449C>GS150Cp.Ser150CysInactivatingFHH1122257344NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
452c.452C>TT151Mp.Thr151MetActivatingADH1122257347rs104893694SNVMissenseExon 3ECDPathogenicGonzales20132318695410.4158/EP12132.CRJournal article
452c.452C>TT151Mp.Thr151MetActivatingADH1122257347rs104893694SNVMissenseExon 3ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
452c.452C>GT151Rp.Thr151ArgActivatingADH1122257347NASNVMissenseExon 3ECDNALetz20102066804010.1210/jc.2010-0651Journal article
452c.452C>TT151Mp.Thr151MetActivatingADH1122257347rs104893694SNVMissenseExon 3ECDPathogenicPearce1996881304210.1056/NEJM199610103351505Journal article
452c.452C>TT151Mp.Thr151MetActivatingADH1122257347rs104893694SNVMissenseExon 3ECDPathogenicSørheim20102050197110.1159/000303188Journal article
452c.452C>GT151Rp.Thr151ArgActivatingADH1122257347NASNVMissenseExon 3ECDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
472c.472G>AG158Rp.Gly158ArgInactivatingFHH1122257367NASNVMissenseExon 3ECDVUSCole20091917945410.1677/JME-08-0164Journal article
473c.473G>AG158Ep.Gly158GluInactivatingFHH1 (heterozygous)122257368rs2074566747SNVMissenseExon 3ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
473c.473G>CG158Ap.Gly158AlaInactivatingFHH1 (heterozygous)122257368NASNVMissenseExon 3ECDNAPorta Vilaró2022NA10.1016/j.mcpsp.2021.100260Journal article
476c.476T>GL159Rp.Leu159ArgInactivatingFHH1 (heterozygous)122257371NASNVMissenseExon 3ECDNAHo20102117510010.1515/jpem.2010.156Journal article
476c.476T>CL159Pp.Leu159ProInactivatingFHH1 (heterozygous)122257371NASNVMissenseExon 3ECDNASimonds20021180740210.1097/00005792-200201000-00001Journal article
482c.482A>GY161Cp.Tyr161CysInactivatingFHH1 (heterozygous)122257377NASNVMissenseExon 3ECDNAArshad20213289215910.1136/postgradmedj-2020-137718Journal article
482c.482A>GY161Cp.Tyr161CysInactivatingFHH1 (heterozygous)122257377NASNVMissenseExon 3ECDNAHannan20122242276710.1093/hmg/dds105Journal article
484c.484A>TI162Fp.Ile162PheInactivatingFHH1122257379NASNVMissenseExon 3ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
488c.488C>TP163Lp.Pro163LeuInactivatingFHH1 (heterozygous)122257383NASNVMissenseExon 3ECDNACetani2019NACetani F, Borsari S, Pardi E, Biagioni T, Bagattini B, Saponaro F, et al. Functional characterization of four mutations of the calcium sensing receptor gene identified in patients with familial hypocalciuric hypercalcemia type 1. Journal of Bone and Mineral Research. 2019;34:312.Conference abstract
488c.488C>GP163Rp.Pro163ArgInactivatingFHH1 (heterozygous)122257383NASNVMissenseExon 3ECDNAHannan20122242276710.1093/hmg/dds105Journal article
490c.490C>TQ164*p.Gln164*InactivatingNSHPT (homozygous)122257385NASNVNonsenseExon 3ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
490c.490C>AQ164Rp.Gln164ArgInactivatingFHH1 (heterozygous)122257385rs2074567065SNVMissenseExon 3ECDVUSKim20142475469110.1111/imj.12383Journal article
490c.490C>TQ164*p.Gln164*InactivatingFHH1122257385NASNVNonsenseExon 3ECDVUSNissen20193143386510.1111/cen.14078Journal article
490c.490C>TQ164*p.Gln164*InactivatingNSHPT (homozygous)122257385NASNVNonsenseExon 3ECDVUSWaller20041524168810.1007/s00431-004-1491-0Journal article
491c.491A>GQ164Rp.Gln164ArgInactivatingFHH1 (heterozygous)122257386rs2074567065SNVMissenseExon 3ECDVUSCoughlan202235420006Coughlan AK, Khan F, Brassill MJ. A Novel Genetic Variant Resulting in Familial Hypocalciuric Hypercalcaemia. Irish Medical Journal. 2022;115(2).Journal article
492c.492+1G>CNANAInactivatingNSHPT (homozygous)122257388NASNVSplice donorExon 3-intron 3 splice siteECDNASadacharan20203269979010.4103/ijem.IJEM_53_20Journal article
493c.493-12G>ANANAInactivatingNSHPT (homozygous)122261516NASNVSplice acceptorIntron 3-Exon 4 splice siteECDNAArif2021NAhttps://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1306/Conference abstract
493c.493-1G>ATwo amino acid missense peptide followed by a stop at codon 167 or an in-frame deletion of exon 4Two amino acid missense peptide followed by a stop at codon 167 or an in-frame deletion of exon 4InactivatingFHH1 (heterozygous)122261527NASNVSplice acceptorIntron 3-Exon 4 splice siteECDNAHannan20122242276710.1093/hmg/dds105Journal article
493c.493_497delV165fs*24p.Val165fs*24InactivatingNSHPT (homozygous)122261528NASmall deletionFrameshiftExon 4ECDNAWard20061650953410.1515/jpem.2006.19.1.93Journal article
496c.496A>GS166Gp.Ser166GlyInactivatingFHH1122261531rs193922441SNVMissenseExon 4ECDVUSCole20091917945410.1677/JME-08-0164Journal article
497c.497G>TS166Ip.Ser166IleInactivatingFHH1122261532NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
501c.501T>AY167*p.Tyr167*InactivatingFHH1122261536NASNVNonsenseExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1697234/?oq=%22NM_000388.4(CASR):c.501T%3EA%20(p.Tyr167Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.501T%3EA%20(p.Tyr167Ter)#id_secondClinvar
503c.503C>TA168Vp.Ala168ValInactivatingFHH1122261538rs1576857840SNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/801995/?oq=%22NM_000388.4(CASR):c.503C%3ET%20(p.Ala168Val)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.503C%3ET%20(p.Ala168Val)Clinvar
505c.505T>CS169Pp.Ser169ProInactivatingFHH1122261540rs1553766709SNVMissenseExon 4ECDVUSKhairi 20203276134110.1007/s12672-020-00394-2Journal article
512c.512G>AS171Np.Ser171AsnInactivatingFHH1 (heterozygous)122261547NASNVMissenseExon 4ECDNAChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
512c.512G>AS171Np.Ser171AsnInactivatingFHH1 (heterozygous)122261547NASNVMissenseExon 4ECDNAChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
512c.512G>AS171Np.Ser171AsnInactivatingFHH1 (heterozygous)122261547NASNVMissenseExon 4ECDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
512c.512G>AS171Np.Ser171AsnInactivatingFHH1 (heterozygous)122261547NASNVMissenseExon 4ECDNANissen20071769891110.1210/jc.2007-0322Journal article
513c.513C>AS171Rp.Ser171ArgInactivatingFHH1122261548rs764149433SNVMissenseExon 4ECDVUSKhairi 20203276134110.1007/s12672-020-00394-2Journal article
513c.513C>AS171Rp.Ser171ArgInactivatingFHH1122261548rs764149433SNVMissenseExon 4ECDVUSMouly20193234797110.1111/cen.14211Journal article
513c.513C>AS171Rp.Ser171ArgInactivatingFHH1122261548rs764149433SNVMissenseExon 4ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
514c.514A>GR172Gp.Arg172GlyInactivatingFHH1 (heterozygous)122261549rs201851934SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
514c.514A>GR172Gp.Arg172GlyInactivatingFHH1 (heterozygous)122261549rs201851934SNVMissenseExon 4ECDPathogenicHinnie20092003427410.1258/rsmsmj.54.4.11Journal article
514c.514A>GR172Gp.Arg172GlyInactivatingFHH1122261549rs201851934SNVMissenseExon 4ECDPathogenicMouly20193234797110.1111/cen.14211Journal article
514c.514A>GR172Gp.Arg172GlyInactivatingFHH1122261549rs201851934SNVMissenseExon 4ECDPathogenicNakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
514c.514A>GR172Gp.Arg172GlyInactivatingFHH1122261549rs201851934SNVMissenseExon 4ECDPathogenicNakamura20132396624110.1210/jc.2013-1974Journal article
517c.517C>TL173Fp.Leu173PheActivatingADH1122261552NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
518c.518T>CL173Pp.Leu173ProInactivatingFHH1 (heterozygous)122261553NASNVMissenseExon 4ECDPathogenicFelderbauer20051566259210.1055/s-2004-830523Journal article
518c.518T>CL173Pp.Leu173ProInactivatingFHH1122261553NASNVMissenseExon 4ECDPathogenicMouly20193234797110.1111/cen.14211Journal article
521c.521T>GL174Rp.Leu174ArgInactivatingFHH1 (heterozygous)122261556NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
521c.521T>GL174Rp.Leu174ArgInactivatingFHH1 (heterozygous)122261556NASNVMissenseExon 4ECDNAWard1997929882410.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-JJournal article
521c.521T>GL174Rp.Leu174ArgInactivatingFHH1 (heterozygous)122261556NASNVMissenseExon 4ECDNAWard20061664998010.1111/j.1365-2265.2006.02512.xJournal article
524c.524G>TS175Ip.Ser175IleInactivatingFHH1122261559NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
528c.528delN176fs*p.Asn176fs*NANA122261563NASmall deletionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1378885/?oq=%22NM_000388.4(CASR):c.528del%20(p.Asn176fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.528del%20(p.Asn176fs)#id_secondClinvar
532c.532A>GN178Dp.Asn178AspInactivatingFHH1 (heterozygous)122261567rs1060502855SNVMissenseExon 4ECDLikely pathogenicPearce1996903933210.1046/j.1365-2265.1996.750891.xJournal article
532c.532A>GN178Dp.Asn178AspInactivatingFHH1 (heterozygous)122261567rs1060502855SNVMissenseExon 4ECDLikely pathogenicSaeed2018NASaeed ZI, Lteif AA. A variance of the calcium sensing receptor (CASR) gene becoming clinically significant. Endocrine Reviews. 2018;39(2).Journal article
532c.532A>TN178Yp.Asn178TyrActivatingADH1122261567NASNVMissenseExon 4ECDVUSGorvin20183005293310.1093/hmg/ddy263Journal article
539c.539T>GF180Cp.Phe180CysInactivatingFHH1122261574rs121909268SNVMissenseExon 4ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
539c.539T>GF180Cp.Phe180CysInactivatingFHH1122261574rs121909268SNVMissenseExon 4ECDPathogenicZajíčková20071747306810.1210/jc.2007-0123Journal article
547c.547T>CF183Lp.Phe183LeuInactivatingFHH1122261582NASNVMissenseExon 4ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
547c.547_548delF183fs*p.Phe183fs*NANA122261581NASmall deletionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1075778/?oq=%22NM_000388.4(CASR):c.547_548del%20(p.Phe183fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.547_548del%20(p.Phe183fs)#id_secondClinvar
553c.553C>TR185*p.Arg185*InactivatingNSHPT (compound heterozygous)122261588rs104893707SNVNonsenseExon 4ECDVUS/Likely pathogenic/PathogenicKobayashi1997925335910.1210/jcem.82.8.4135Journal article
553c.553C>GR185Gp.Arg185GlyInactivatingFHH1122261588NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicAubert-Mucca20153416912110.1016/j.bonr.2021.101097Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicBhangu20183055444010.1002/hed.25568Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicBhangu20223524266510.21037/gs-21-577Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicBond2017NABond DT, Paulus AO. Severe hypercalcemia in a patient with familial hypocalciuric hypercalcemia with a rare calcium-sensing receptor (CASR) R185Q mutation treated with cinacalcet. Endocrine Reviews. 2017;38(3)Conference abstract
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicChapman2010NA10.1159/000321348Conference abstract
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicDöğer2019NAhttps://abstracts.eurospe.org/hrp/0092/hrp0092p2-44Conference abstract
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicFisher20152616126110.1530/EDM-15-0040Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicForman20183073083910.1515/jpem-2018-0307Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicGannon20132420306610.1210/jc.2013-2834Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicGlaudo20162766653410.1530/EJE-16-0223Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicHöppner20213465910810.3389/fendo.2021.700612Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicKrupinova20203336937310.14341/probl12537Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1122261589rs104893689SNVMissenseExon 4ECDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1122261589rs104893689SNVMissenseExon 4ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicMoll2013NAMoll GW, Moll CL. Progressive hypercalcemia in a prepubertal male: Assessment and response to cinacalcet. Endocrine Reviews. 2013;34(3).Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1122261589rs104893689SNVMissenseExon 4ECDPathogenicMouly20193234797110.1111/cen.14211Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicObermannova20091875172410.1007/s00431-008-0794-yJournal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicPalmieri20223514125310.3389/fmed.2021.809067Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicPollak1993791666010.1016/0092-8674(93)90617-yJournal article
554c.554G>AR185Qp.Arg185GlnInactivatingNSHPT (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicReh20112128926910.1210/jc.2010-1306Journal article
554c.554G>AR185Qp.Arg185GlnInactivatingFHH1 (heterozygous)122261589rs104893689SNVMissenseExon 4ECDPathogenicSánchez2019NASánchez A, Rossi E. Genetic hypercalcemic hypocalciuria in a Prepubertal boy. Revista Medica de Rosario. 2019;85(2):77-80.Journal article
554c.554delR185fs*p.Arg185fs*InactivatingFHH1122261589rs193922442Small deletionFrameshiftExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35801/?oq=%22NM_000388.4(CASR):c.554del%20(p.Arg185fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.554del%20(p.Arg185fs)#id_secondClinvar
557c.557C>AT186Np.Thr186AsnActivatingADH1122261592NASNVMissenseExon 4ECDNATsuji20213350615810.1210/jendso/bvaa190Journal article
568c.568G>AD190Np.Asp190AsnInactivatingFHH1122261603NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
569c.569A>GD190Gp.Asp190GlyInactivatingFHH1 (heterozygous)122261604NASNVMissenseExon 4ECDNANanjo20102069718110.1507/endocrj.k10e-178Journal article
570c.570delTD190fs*67p.Asp190fs*67InactivatingNSHPT (homozygous)122261605NASmall deletionFrameshiftExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
570c.570T>GD190Ep.Asp190GluInactivatingFHH1122261605NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
570c.570delTD190fs*67p.Asp190fs*67InactivatingNSHPT (homozygous)122261605NASmall deletionFrameshiftExon 4ECDNAWebb2009NA10.1016/j.bone.2009.04.137Journal article
571c.571G>AE191Kp.Glu191LysActivatingADH1122261606rs104893697SNVMissenseExon 4ECDPathogenicPearce1996881304210.1056/NEJM199610103351505Journal article
577c.577C>TQ193*p.Gln193*NANA122261612rs1064793992SNVNonsenseExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/419616/?oq=%22NM_000388.4(CASR):c.577C%3ET%20(p.Gln193Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.577C%3ET%20(p.Gln193Ter)#id_secondClinvar
593c.593C>AA198Ep.Ala198GluInactivatingFHH1122261628NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
613c.613C>TR205Cp.Arg205CysActivatingADH1122261648rs775751453SNVMissenseExon 4ECDVUSJi20213416043710.1097/MD.0000000000026443Journal article
623c.623G>CW208Sp.Trp208SerInactivatingFHH1 (heterozygous)122261658rs2074623917SNVMissenseExon 4ECDVUSDemedts20081829647410.1164/ajrccm.177.5.558Journal article
623c.623G>CW208Sp.Trp208SerInactivatingFHH1 (heterozygous)122261658rs2074623917SNVMissenseExon 4ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
624c.624G>CW208Gp.Trp208GlyInactivatingFHH1 (heterozygous)122261659NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
635c.635T>GI212Sp.Ile212SerInactivatingNSHPT (homozygous)122261670NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
635c.635T>CI212Tp.Ile212ThrInactivatingFHH1 (heterozygous)122261670rs1576858127SNVMissenseExon 4ECDVUSMarcocci20031460273910.1210/jc.2003-030739Journal article
638c.638C>AA213Ep.Ala213GluInactivatingFHH1 (heterozygous)122261673NASNVMissenseExon 4ECDNAElamin20102103447010.1186/1752-1947-4-349Journal article
643c.643G>CD215Hp.Asp215HisInactivatingFHH1122261678rs1553731681SNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35802/?oq=%22NM_000388.4(CASR):c.643G%3EC%20(p.Asp215His)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.643G%3EC%20(p.Asp215His)#id_secondClinvar
644c.644A>GD215Gp.Asp215GlyInactivatingFHH1 (heterozygous)122261679NASNVMissenseExon 4ECDNAMarstrand20213455616910.1186/s13256-021-03051-6Journal article
649c.649G>TD217Yp.Asp217TyrInactivatingFHH1122261684rs201091657SNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/430465/?oq=%22NM_000388.4(CASR):c.649G%3ET%20(p.Asp217Tyr)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.649G%3ET%20(p.Asp217Tyr)#id_firstClinvar
652c.652T>CY218Hp.Tyr218HisInactivatingFHH1 (heterozygous)122261687rs1057520583SNVMissenseExon 4ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
652c.652T>AY218Np.Tyr218AsnInactivatingFHH1122261687NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
652c.652T>GY218Dp.Tyr218AspNANA122261687rs1057520583SNVMissenseExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/379352/?oq=%22NM_000388.4(CASR):c.652T%3EG%20(p.Tyr218Asp)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.652T%3EG%20(p.Tyr218Asp)#id_secondClinvar
653c.653A>GY218Cp.Tyr218CysInactivatingFHH1 (heterozygous)122261688rs2074624616SNVMissenseExon 4ECDLikely pathogenicCetani20031258093610.1046/j.1365-2265.2003.01696.xJournal article
653c.653A>GY218Cp.Tyr218CysInactivatingFHH1122261688rs2074624616SNVMissenseExon 4ECDLikely pathogenicLu20091975931810.1124/jpet.109.159228Journal article
653c.653A>GY218Cp.Tyr218CysInactivatingFHH1122261688rs2074624616SNVMissenseExon 4ECDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
653c.653A>GY218Cp.Tyr218CysInactivatingFHH1 (heterozygous)122261688rs2074624616SNVMissenseExon 4ECDLikely pathogenicQuaglia2012NA10.1093/ndt/gfs201Conference abstract
653c.653A>CY218Sp.Tyr218SerInactivatingFHH1 (heterozygous)122261688NASNVMissenseExon 4ECDNAPearce1995867563510.1172/JCI118335Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingNSHPT (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicFox20141797472710.1542/peds.2006-3209Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingNSHPT (homozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1122261693rs1482119762SNVMissenseExon 4ECDPathogenicMouly20193234797110.1111/cen.14211Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingNSHPT (homozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicOrlova2011NA10.1159/000334328Conference abstract
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicPark20223558662610.3389/fendo.2022.853171Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicRasmussen20112214247010.1186/1752-1947-5-564Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicSchwarz20001088549410.1080/003655100750044875Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1 (heterozygous)122261693rs1482119762SNVMissenseExon 4ECDPathogenicSimonds20021180740210.1097/00005792-200201000-00001Journal article
658c.658C>TR220Wp.Arg220TrpInactivatingFHH1122261693rs1482119762SNVMissenseExon 4ECDPathogenicCole20091917945410.1677/JME-08-0164Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicAlon20102049583110.1007/s00467-010-1547-5Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicBahíllo-Curieses20203211519810.1016/j.medcli.2020.01.005Journal article
659c.659G>CR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694NASNVMissenseExon 4ECDLikely pathogenicEgan20122308173310.1007/s00774-012-0399-4Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicFukumoto20011176331510.1097/00019606-200112000-00006Journal article
659c.659G>CR220Pp.Arg220ProInactivatingFHH1 (heterozygous)122261694NASNVMissenseExon 4ECDLikely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicMohammed200818830196https://medscimonit.com/abstract/index/idArt/869397Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicPearce1996903933210.1046/j.1365-2265.1996.750891.xJournal article
659c.659G>AR220Qp.Arg220GlnInactivatingFHH1 (heterozygous)122261694rs1202110240SNVMissenseExon 4ECDLikely pathogenicZiv2019NA10.1159/000501868Conference abstract
661c.661C>TP221Sp.Pro221SerInactivatingFHH1122261696NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
661c.661C>TP221Sp.Pro221SerInactivatingFHH1 (heterozygous)122261696NASNVMissenseExon 4ECDNAPearce1996903933210.1046/j.1365-2265.1996.750891.xJournal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicBastida2021NABastida MG, Servidio M, Marino R, Avila S, Viterbo G, Boquete H. Autosomal dominant hypocalcemia: Description of clinical and biochemical findings in a family with the missense pathogenic variant p. pro221leu in the casr gene. Revista Argentina de Endocrinologia y Metabolismo. 2021;58(SUPPL 1):46.Conference abstract
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicChikatsu20031273371410.1507/endocrj.50.91Journal article
662c.662C>AP221Qp.Pro221GlnInactivatingFHH1 (heterozygous)122261697rs397514728SNVMissenseExon 4ECDPathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
662c.662C>AP221Qp.Pro221GlnInactivatingFHH1 (heterozygous)122261697rs397514728SNVMissenseExon 4ECDPathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicConley20001113655110.1006/mgme.2000.3096Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697NASNVMissenseExon 4ECDPathogenicEom2011NAEom YS, Choi B, Yi HS, Chung YS, Jung TS, Park SY, et al. Mutational analyses of genes in korean patients with familial or sporadic forms of isolated hypoparathyroidism: A series of korean hypopara registry study. Endocrine Reviews. 2011;32(3).Conference abstract
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicGuarnieri20122278968310.1016/j.ymgme.2012.06.012Journal article
662c.662C>AP221Qp.Pro221GlnInactivatingFHH1 (heterozygous)122261697rs397514728SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
662c.662C>AP221Qp.Pro221GlnInactivatingFHH1 (heterozygous)122261697rs397514728SNVMissenseExon 4ECDPathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicKhaliel2022NA10.1111/dmcn.15123Conference abstract
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicKim20102011959110.3346/jkms.2010.25.2.317Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicKinoshika20132429779910.1210/jc.2013-3430Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicLetz20102066804010.1210/jc.2010-0651Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
662c.662C>AP221Qp.Pro221GlnInactivatingFHH1 (heterozygous)122261697rs397514728SNVMissenseExon 4ECDPathogenicNissen20071769891110.1210/jc.2007-0322Journal article
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicShibata2013NAShibata H, Hori N, Yoshida M, Mitui T, Narumi S, Hasegawa T. A family with autosomal dominant hypocalcaemia with sensorineural hearing impairment and low urine excretion of calcium. Hormone Research in Paediatrics. 2013;80:87.Conference abstract
662c.662C>TP221Lp.Pro221LeuActivatingADH1122261697rs397514728SNVMissenseExon 4ECDPathogenicRaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
664c.664G>AG222Rp.Gly222ArgNANA122261699NASNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1331538/?oq=%22NM_000388.4(CASR):c.664G%3EA%20(p.Gly222Arg)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.664G%3EA%20(p.Gly222Arg)#id_secondClinvar
665c.665G>AG222Ep.Gly222GluInactivatingFHH1 (heterozygous)122261700NASNVMissenseExon 4ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
666c.666delI223fs*p.Ile223fs*InactivatingFHH1122261698NASmall deletionFrameshiftExon 4ECDPathogenic/Likely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1321376/?oq=%22NM_000388.4(CASR):c.666del%20(p.Ile223fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.666del%20(p.Ile223fs)#id_secondClinvar
668c.668T>CI223Tp.Ile223ThrInactivatingFHH1 (heterozygous)122261703NASNVMissenseExon 4ECDNABhangu20183055444010.1002/hed.25568Journal article
668c.668T>CI223Tp.Ile223ThrInactivatingFHH1 (heterozygous)122261703NASNVMissenseExon 4ECDNABhangu20223524266510.21037/gs-21-577Journal article
674c.674A>CK225Tp.Lys225ThrInactivatingFHH1 (heterozygous)122261709NASNVMissenseExon 4ECDNANissen20071769891110.1210/jc.2007-0322Journal article
679c.679C>TR227*p.Arg227*InactivatingNSHPT (homozygous)122261714rs1085307984SNVNonsenseExon 4ECDPathogenic/Likely pathogenicAl-Khalaf20112097268610.1007/s00431-010-1335-zJournal article
679c.679C>TR227*p.Arg227*InactivatingNSHPT (homozygous)122261714rs1085307984SNVNonsenseExon 4ECDPathogenic/Likely pathogenicHashim20193212046810.4038/cmj.v64i4.8988Journal article
679c.679C>TR227*p.Arg227*InactivatingFHH1122261714rs1085307984SNVMissenseExon 4ECDPathogenic/Likely pathogenicMouly20193234797110.1111/cen.14211Journal article
679c.679C>TR227*p.Arg227*InactivatingFHH1122261714rs1085307984SNVNonsenseExon 4ECDPathogenic/Likely pathogenicNissen20193143386510.1111/cen.14078Journal article
679c.679C>TR227*p.Arg227*InactivatingNSHPT (homozygous)122261714rs1085307984SNVNonsenseExon 4ECDPathogenic/Likely pathogenicPadeira2021NA10.1159/000518849Conference abstract
679c.679C>TR227*p.Arg227*InactivatingFHH1122261714rs1085307984SNVNonsenseExon 4ECDPathogenic/Likely pathogenicVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
679c.679C>GR227Gp.Arg227GlyNANA122261714rs1085307984SNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/427145/?oq=%22NM_000388.4(CASR):c.679C%3EG%20(p.Arg227Gly)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.679C%3EG%20(p.Arg227Gly)#id_secondClinvar
680c.680G>TR227Lp.Arg227LeuInactivatingNSHPT (heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicGlaudo20162766653410.1530/EJE-16-0223Journal article
680c.680G>AR227Qp.Arg227GlnInactivatingFHH1122261715rs28936684SNVMissenseExon 4ECDPathogenicGrant20122307734510.1210/me.2012-1232Journal article
680c.680G>AR227Qp.Arg227GlnInactivatingFHH1 (heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
680c.680G>AR227Qp.Arg227GlnInactivatingFHH1122261715rs28936684SNVMissenseExon 4ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
680c.680G>TR227Lp.Arg227LeuInactivatingFHH1122261715rs28936684SNVMissenseExon 4ECDPathogenicLu20091975931810.1124/jpet.109.159228Journal article
680c.680G>TR227Lp.Arg227LeuInactivatingNSHPT (heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicPearce1995867563510.1172/JCI118335Journal article
680c.680G>TR227Lp.Arg227LeuInactivatingFHH1 (Heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicVeldeman20203230605910.1007/s00223-020-00693-4Journal article
680c.680G>AR227Qp.Arg227GlnInactivatingFHH1 (heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicWystrychowski20041557241810.1210/jc.2004-1791Journal article
680c.680G>AR227Qp.Arg227GlnInactivatingFHH1 (heterozygous)122261715rs28936684SNVMissenseExon 4ECDPathogenicChou19957726161NAJournal article
682c.682G>CE228Qp.Glu228GlnActivatingADH1122261717NASNVMissenseExon 4ECDNAConley20001113655110.1006/mgme.2000.3096Journal article
682c.682G>AE228Kp.Glu228LysActivatingADH1122261717NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
682c.682G>AE228Kp.Glu228LysActivatingADH1122261717NASNVMissenseExon 4ECDNARoberts20193106361310.1002/jbmr.3747Journal article
682c.682G>AE228Kp.Glu228LysActivatingADH1122261717NASNVMissenseExon 4ECDNACole20091917945410.1677/JME-08-0164Journal article
683c.683A>GE228Gp.Glu228GlyActivatingADH1122261718NASNVMissenseExon 4ECDNANakajima20091991529510.2169/internalmedicine.48.2459Journal article
683c.683A>CE228Ap.Glu228AlaActivatingADH1122261718NASNVMissenseExon 4ECDNARoberts20193106361310.1002/jbmr.3747Journal article
704c.704delI235Tfs*22p.Ile235Thrfs*22InactivatingFHH1122261739NASmall deletionFrameshiftExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
706c.706T>GC236Gp.Cys236GlyInactivatingFHH1 (heterozygous)122261741NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
707c.707_715delC236_D238delp.Cys236_Asp238delInactivatingFHH1122261742NASmall deletionDeletionExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
721c.721G>AE241Kp.Glu241LysActivatingADH1122261756NASNVMissenseExon 4ECDVUSHannan20122242276710.1093/hmg/dds105Journal article
734c.734A>GQ245Rp.Gln245ArgActivatingADH1122261769NASNVMissenseExon 4ECDNAConley20001113655110.1006/mgme.2000.3096Journal article
734c.734A>GQ245Rp.Gln245ArgActivatingADH1122261769NASNVMissenseExon 4ECDNARoberts20193106361310.1002/jbmr.3747Journal article
734c.734A>GQ245Rp.Gln245ArgActivatingADH1122261769NASNVMissenseExon 4ECDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
741c.741dupTD248*p.Asp248*InactivatingFHH1 (heterozygous)122261776NASmall insertionNonsenseExon 4ECDNAAnn Tee20213415228510.1530/EDM-21-0024Journal article
772c.772_773delGTinsAV258Rfs*47p.Val258Argfs*47InactivatingFHH1 (heterozygous)122261807NASmall insertion/deletionFrameshiftExon 4ECDNAPapadopoulou20162708701310.4274/jcrpe.2800Journal article
772c.772_773delGTinsAV258Rfs*47p.Val258Argfs*47InactivatingFHH1 (heterozygous)122261807NASmall insertion/deletionFrameshiftExon 4ECDNAZapanti20152615865710.14310/horm.2002.1586Journal article
788c.788C>TT263Mp.Thr263MetInactivatingFHH1 (heterozygous)122261823rs201456938SNVMissenseExon 4ECDVUSGuarnieri20102016428810.1210/jc.2008-2430Journal article
812c.812C>TS271Fp.Ser271PheInactivatingFHH1 (heterozygous)122261847NASNVMissenseExon 4ECDNANissen20071769891110.1210/jc.2007-0322Journal article
823c.823_824delD275fs*p.Asp275fs*NANA122261857rs1553766794Small deletionFrameshiftExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/447003/?oq=%22NM_000388.4(CASR):c.823_824del%20(p.Asp275fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.823_824del%20(p.Asp275fs)#id_firstClinvar
887c.887G>AS296Np.Ser296AsnInactivatingFHH1 (heterozygous)122261922NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
889c.889G>AE297Kp.Glu297LysInactivatingFHH1 (heterozygous)122261924rs121909259SNVMissenseExon 4ECDPathogenicBrachet20091942355910.1530/EJE-09-0257Journal article
889c.889G>AE297Kp.Glu297LysInactivatingFHH1122261924rs121909259SNVMissenseExon 4ECDPathogenicGrant20122307734510.1210/me.2012-1232Journal article
889c.889G>AE297Kp.Glu297LysInactivatingFHH1 (heterozygous)122261924rs121909259SNVMissenseExon 4ECDPathogenicPollak1993791666010.1016/0092-8674(93)90617-yJournal article
889c.889G>AE297Kp.Glu297LysInactivatingFHH1 (heterozygous)122261924rs121909259SNVMissenseExon 4ECDPathogenicWoo20061664255710.3349/ymj.2006.47.2.255Journal article
891c.891G>TE297Dp.Glu297AspActivatingADH1122261926rs1559959353SNVMissenseExon 4ECDVUSSilve20051614799410.1074/jbc.M506263200Journal article
893c.893C>TA298Vp.Ala298ValInactivatingFHH1 (heterozygous)122261928rs1064797049SNVMissenseExon 4ECDVUSLin2018NALin WW, George A, Anderson RJ. A case of hypocalciuric hypercalcemia with a rare variant of casr gene mutation. Endocrine Reviews. 2018;39(2).Conference abstract
893c.893C>TA298Vp.Ala298ValInactivatingFHH1122261928rs1064797049SNVMissenseExon 4ECDVUSMouly20193234797110.1111/cen.14211Journal article
903c.903delS302fs*p.Ser302fs*NANA122261938NASmall deletionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1697584/?oq=%22NM_000388.4(CASR):c.903del%20(p.Ser302fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.903del%20(p.Ser302fs)#id_secondClinvar
905c.905C>TS302Fp.Ser302PheInactivatingFHH1122261940NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
924c.924_925dupQ309fs*p.Gln309fs*NANA122261957NASmall insertionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1074500/?oq=%22NM_000388.4(CASR):c.924_925dup%20(p.Gln309fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.924_925dup%20(p.Gln309fs)#id_secondClinvar
961c.961_962delA321fs*p.Ala321fs*InactivatingFHH1122261995NASmall deletionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1432045/?oq=%22NM_000388.4(CASR):c.961_962del%20(p.Ala321fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.961_962del%20(p.Ala321fs)Clinvar
967c.967A>TK323*p.Lys323*InactivatingFHH1 (heterozygous)122262002NASNVNonsenseExon 4ECDVUSWard20061664998010.1111/j.1365-2265.2006.02512.xJournal article
974c.974G>AG325Ep.Gly325GluInactivatingFHH1122262009rs193922444SNVMissenseExon 4ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35803/?oq=%22NM_000388.4(CASR):c.974G%3EA%20(p.Gly325Glu)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.974G%3EA%20(p.Gly325Glu)#id_secondClinvar
995c.965T>CL322Pp.Leu322ProActivatingADH1122262030NASNVMissenseExon 4ECDNADershem20203238655910.1016/j.ajhg.2020.04.006Journal article
1006c.1006_1008delAAGK336delp.Lys336delInactivatingFHH1 (heterozygous)122262041NASmall deletionDeletionExon 4ECDNAWarner20041498537310.1136/jmg.2003.016725Journal article
1015c.1015C>AP339Tp.Pro339ThrInactivatingFHH1 (homozygous)122262050NASNVMissenseExon 4ECDNAHannan20102084629110.1111/j.1365-2265.2010.03870.xJournal article
1031c.1031_1034 delACAAinsTH344_N345Lp.His344_Asn345LeuInactivatingNSHPT (homozygous)122262066NASmall deletion, insertionDeletion/insertionExon 4ECDNADong20102063102610.1210/jc.2010-0559Journal article
1031c.1031_1034 delACAAinsTH344_N345Lp.His344_Asn345LeuInactivatingFHH1 (heterozygous)122262066NASmall deletion, insertionDeletion/insertionExon 4ECDNADong20102063102610.1210/jc.2010-0559Journal article
1034c.1034A>TN345Ip.Asn345IleInactivatingFHH1122262069rs1390562571SNVMissenseExon 4ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1040c.1040T>CF347Sp.Phe347SerInactivatingFHH1122262075NASNVMissenseExon 4ECDNANissen20193143386510.1111/cen.14078Journal article
1051c.1051T>GF351Vp.Phe351ValInactivatingFHH1 (heterozygous)122262086NASNVMissenseExon 4ECDNAGuarnieri20102016428810.1210/jc.2008-2430Journal article
1054c.1054delW352fs*p.Trp352fs*NANA122262086NASmall deletionFrameshiftExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1074918/?oq=%22NM_000388.4(CASR):c.1054del%20(p.Trp352fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1054del%20(p.Trp352fs)#id_secondClinvar
1056c.1056G>AW352*p.Trp352*InactivatingFHH1 (heterozygous)122262091NASNVNonsenseExon 4ECDVUS/PathogenicNissen20071769891110.1210/jc.2007-0322Journal article
1081c.1081C>TQ361*p.Gln361*NANA122262116NASNVNonsenseExon 4ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1070118/?oq=%22NM_000388.4(CASR):c.1081C%3ET%20(p.Gln361Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1081C%3ET%20(p.Gln361Ter)#id_secondClinvar
1096c.1096G>TG366*p.Gly366*InactivatingFHH1 (heterozygous)122262131NASNVNonsenseExon 4ECDVUSBhangu20183055444010.1002/hed.25568Journal article
1096c.1096G>TG366*p.Gly366*InactivatingFHH1 (heterozygous)122262131NASNVNonsenseExon 4ECDVUSBhangu20223524266510.21037/gs-21-577Journal article
1174c.1174C>TR392*p.Arg392*InactivatingNSHPT (homozygous)122262209NASNVNonsenseExon 4ECDVUS/PathogenicHannan20122242276710.1093/hmg/dds105Journal article
1174c.1174C>TR392*p.Arg392*InactivatingNSHPT (homozygous)122262209NASNVNonsenseExon 4ECDVUS/PathogenicWard20132361244710.1530/EJE-13-0094Journal article
1178c.1178C>GP393Rp.Pro393ArgInactivatingFHH1 (heterozygous)122262213NASNVMissenseExon 4ECDNAPalmieri20223514125310.3389/fmed.2021.809067Journal article
1183c.1183T>CC395Rp.Cys395ArgInactivatingFHH1 (heterozygous)122262218rs1057517712SNVMissenseExon 4ECDLikely pathogenicForde20142532026110.1136/bcr-2014-206473Journal article
1183c.1183T>CC395Rp.Cys395ArgInactivatingFHH1122262218rs1057517712SNVMissenseExon 4ECDLikely pathogenicGrant20122307734510.1210/me.2012-1232Journal article
1183c.1183T>CC395Rp.Cys395ArgInactivatingFHH1 (heterozygous)122262218rs1057517712SNVMissenseExon 4ECDLikely pathogenicVigouroux20001097145910.1046/j.1365-2265.2000.01042.xJournal article
1189c.1189G>AG397Rp.Gly397ArgInactivatingFHH1 (heterozygous)122262224rs1064794291SNVMissenseExon 4ECDVUSChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1189c.1189G>AG397Rp.Gly397ArgInactivatingFHH1 (heterozygous)122262224rs1064794291SNVMissenseExon 4ECDVUSChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1189c.1189G>AG397Rp.Gly397ArgInactivatingFHH1 (heterozygous)122262224rs1064794291SNVMissenseExon 4ECDVUSJakobsen20132376437210.1530/EJE-13-0224Journal article
1189c.1189G>AG397Rp.Gly397ArgInactivatingFHH1 (heterozygous)122262224rs1064794291SNVMissenseExon 4ECDVUSNissen20071769891110.1210/jc.2007-0322Journal article
1199c.1199A>TN400Ip.Asn400IleInactivatingFHH1 (heterozygous)122262234rs576643925SNVMissenseExon 4ECDVUSMariathasan20203243090510.1111/cen.14254Journal article
1230c.1230T>AD410Ep.Asp410GluActivatingADH1122262265NASNVMissenseExon 4ECDNAChoi2011NAChoi B, Kim YM, Chung YS, Jung TS, Kim CH, Hong S, et al. A novel gain-of-function mutation of the calcium-sensing receptor gene, CASR D410e might be associated with autosomal dominant hypocalcemia: A series of korean hypopara registry study (2). Journal of Bone and Mineral Research. 2011;26.Conference abstract
1230c.1230T>AD410Ep.Asp410GluActivatingADH1122262265NASNVMissenseExon 4ECDNAEom2011NAEom YS, Choi B, Yi HS, Chung YS, Jung TS, Park SY, et al. Mutational analyses of genes in korean patients with familial or sporadic forms of isolated hypoparathyroidism: A series of korean hypopara registry study. Endocrine Reviews. 2011;32(3).Conference abstract
1230c.1230T>AD410Ep.Asp410GluActivatingADH1122262265NASNVMissenseExon 4ECDNAPark20132300966410.1111/cen.12056Journal article
1244c.1244G>AR415Qp.Arg415GlnInactivatingFHH1122262279rs193922421SNVMissenseExon 4ECDConflicting interpretations of pathogenicityMouly20193234797110.1111/cen.14211Journal article
1253c.1253A>GY418Cp.Tyr418CysInactivatingFHH1122262288NASNVMissenseExon 4ECDNANissen20193143386510.1111/cen.14078Journal article
1256c.1256A>GN419Sp.Asn419SerActivatingADH1122262291NASNVMissenseExon 4ECDNAHannan20122242276710.1093/hmg/dds105Journal article
1258c.1258G>AV420Mp.Val420MetInactivatingFHH1122262293NASNVMissenseExon 4ECDVUSNissen20193143386510.1111/cen.14078Journal article
1263c.1263C>AY421*p.Tyr421*InactivatingFHH1 (heterozygous)122262298NASNVNonsenseExon 4ECDVUSEspejo2019NA10.1016/j.cca.2019.03.474Conference abstract
1267c.1267_1268delinsAAA423Kp.Ala423LysInactivatingFHH1 (heterozygous)122262302NASmall insertion/deletionMissenseExon 4ECDNALivadariu20112156607410.1530/EJE-11-0121Journal article
1278c.1278delCI427Lfs*35p.Ile427Leufs*35InactivatingFHH1 (heterozygous)122262313NASNVFrameshiftExon 4ECDNABhangu20183055444010.1002/hed.25568Journal article
1278c.1278delCI427Lfs*35p.Ile427Leufs*35InactivatingFHH1 (heterozygous)122262313NASNVFrameshiftExon 4ECDNABhangu20223524266510.21037/gs-21-577Journal article
1287c.1287C>AH429Qp.His429GlnInactivatingFHH1 (heterozygous)122262322rs746515147SNVMissenseExon 4ECDVUSPark20223558662610.3389/fendo.2022.853171Journal article
1288c.1288G>AA430Tp.Ala430ThrInactivatingFHH1122262323NASNVMissenseExon 4ECDVUSNissen20193143386510.1111/cen.14078Journal article
1289c.1289C>TA430Vp.Ala430ValInactivatingFHH1122262324NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1295c.1295A>GQ432Rp.Gln432ArgInactivatingFHH1122262330NASNVMissenseExon 4ECDNAMouly20193234797110.1111/cen.14211Journal article
1295c.1295A>GQ432Rp.Gln432ArgInactivatingFHH1122262330NASNVMissenseExon 4ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1297c.1297G>TD433Yp.Asp433TyrInactivatingFHH1 (heterozygous)122262332NASNVMissenseExon 4ECDNAMagno20203263803810.1007/s00223-020-00715-1Journal article
1342c.1342T>CS448Pp.Ser448ProInactivatingFHH1 (heterozygous)122262377NASNVMissenseExon 4ECDNADharmaraj20203215025310.1210/clinem/dgaa111Journal article
1342c.1342T>CS448Pp.Ser448ProInactivatingNSHPT (heterozygous)122262377NASNVMissenseExon 4ECDNADharmaraj20203215025310.1210/clinem/dgaa111Journal article
1370c.1370C>TA457Vp.Ala457ValInactivatingFHH1122262405rs1553766930SNVMissenseExon 4ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1373c.1373G>TW458Lp.Trp458LeuInactivatingFHH1 (Heterozygous)122262408NASNVMissenseExon 4ECDNAVishwanath2012NAVishwanath A, Beasley J, Krishnan S, Wierenga K. A novel calcium-sensing receptor gene (CASR) variant associated with hypocalciuric hypercalcemia. Endocrine Reviews. 2012;33(3).Conference abstract
1376c.1376A>GQ459Rp.Gln459ArgInactivatingFHH1 (heterozygous)122262411NASNVMissenseExon 4ECDPathogenic/Likely pathogenicBoisen20203216030310.1210/clinem/dgz205Journal article
1376c.1376A>GQ459Rp.Gln459ArgInactivatingFHH1 (heterozygous)122262411NASNVMissenseExon 4ECDPathogenic/Likely pathogenicLietman20091978920910.1210/jc.2008-2484Journal article
1376c.1376A>GQ459Rp.Gln459ArgInactivatingFHH1122262411NASNVMissenseExon 4ECDPathogenic/Likely pathogenicNissen20193143386510.1111/cen.14078Journal article
1376c.1376A>GQ459Rp.Gln459ArgInactivatingFHH1 (homozygous)122262411NASNVMissenseExon 4ECDPathogenic/Likely pathogenicSzczawinska2013NASzczawinska DB, Mayr B, Letz S, Rus R, Schnabel D, Schofl C. Identification and functional characterization of a homozygous, inactivating calcium-sensing receptor mutation in a patient with rickets. Endocrine Reviews. 2013;34(3).Conference abstract
1376c.1376A>GQ459Rp.Gln459ArgInactivatingFHH1 (homozygous)122262411NASNVMissenseExon 4ECDPathogenic/Likely pathogenicSzczawinska20142451714810.1210/jc.2013-3593Journal article
1377c.1377+1G>TNANAInactivatingFHH1 (heterozygous)122262413NASNVSplice donorExon 4-Intron 4 splice siteECDNAMahajan20203164180110.1007/s00198-019-05170-9Journal article
1377c.1377+1G>TNANAInactivatingFHH1122262413NASNVSplice donorExon 4-Intron 4 splice siteECDNAMouly20193234797110.1111/cen.14211Journal article
1378c.1378-19A>CQ459fs*130p.Gln459fs*130InactivatingFHH1122275793NASNVSplice acceptor/frameshiftIntron 4-Exon 5 splice siteECDNAGuarnieri20102016428810.1210/jc.2008-2430Journal article
1378c.1378-2A>GFrame shift deletion of exon 5Frame shift deletion of exon 5InactivatingNSHPT (homozygous)122275810NASNVSplice acceptor/frameshiftIntron 4-Exon 5 splice siteECDNAAhmad20172935416710.11138/ccmbm/2017.14.3.354Journal article
1382c.1382T>CL461Rp.Leu461ArgInactivatingFHH1 (heterozygous)122275816NASNVMissenseExon 5ECDNAHannan20122242276710.1093/hmg/dds105Journal article
1392c.1392_1404delR465Lfs*9p.Arg465Leufs*9InactivatingNSHPT (homozygous)122275826NASmall deletionFrameshiftExon 5ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1392c.1392_1404delR465Lfs*9p.Arg465Leufs*9InactivatingNSHPT (homozygous)122275826NASmall deletionFrameshiftExon 5ECDNASoblechero20132381730110.1159/000350540Journal article
1393c.1393C>TR465Wp.Arg465TrpInactivatingFHH1 (heterozygous)122275827rs751217000SNVMissenseExon 5ECDConflicting interpretations of pathogenicityGuarnieri20102016428810.1210/jc.2008-2430Journal article
1393c.1393C>TR465Wp.Arg465TrpInactivatingFHH1122275827rs751217000SNVMissenseExon 5ECDConflicting interpretations of pathogenicityMouly20193234797110.1111/cen.14211Journal article
1394c.1394G>AR465Qp.Arg465GlnInactivatingFHH1 (heterozygous)122275828rs104893716SNVMissenseExon 5ECDLikely pathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1394c.1394G>AR465Qp.Arg465GlnInactivatingFHH1 (heterozygous)122275828rs104893716SNVMissenseExon 5ECDLikely pathogenicGonzález-González2022NA10.4321/s1889-836x2022000200001 Journal article
1394c.1394G>AR465Qp.Arg465GlnInactivatingFHH1 (heterozygous)122275828rs104893716SNVMissenseExon 5ECDLikely pathogenicLeech20061659885910.1016/j.bbrc.2006.02.018Journal article
1394c.1394G>AR465Qp.Arg465GlnInactivatingFHH1 (heterozygous)122275828rs104893716SNVMissenseExon 5ECDLikely pathogenicMariathasan20203243090510.1111/cen.14254Journal article
1394c.1394G>AR465Qp.Arg465GlnInactivatingFHH1 (heterozygous)122275828rs104893716SNVMissenseExon 5ECDLikely pathogenicSzalat20172817628010.1007/s12020-017-1241-5Journal article
1441c.1441G>AE481Kp.Glu481LysActivatingADH1122275875NASNVMissenseExon 5ECDNAKinoshika20132429779910.1210/jc.2013-3430Journal article
1507c.1507A>GI503Vp.Ile503ValInactivatingFHH1122275941rs200910001SNVMissenseExon 5ECDVUSNissen20193143386510.1111/cen.14078Journal article
1512c.1512_1515delF505fs*p.Phe505fs*InactivatingFHH1122275945rs193922422Small deletionFrameshiftExon 5ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35777/?oq=%22NM_000388.4(CASR):c.1512_1515del%20(p.Phe505fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1512_1515del%20(p.Phe505fs)#id_secondClinvar
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicDong2020NA10.3760/cma.j.cn511374-20191118-00587Journal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingNSHPT (compound heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicDong2020NA10.3760/cma.j.cn511374-20191118-00587Journal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingNSHPT (compound heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicKulkarni20142476381510.1007/s12098-014-1442-3Journal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicMagno20203263803810.1007/s00223-020-00715-1Journal article
1525c.1525G>AG509Rp.Gly509ArgInactivatingFHH1 (heterozygous)122275959rs193922423SNVMissenseExon 5ECDPathogenic/Likely pathogenicNissen20071769891110.1210/jc.2007-0322Journal article
1526c.1526G>AG509Ep.Gly509GluInactivatingFHH1122275960rs1060502845SNVMissenseExon 5ECDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1542c.1542T>GY514*p.Tyr514*NANA122275976NASNVMissenseExon 5ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1453597/?oq=%22NM_000388.4(CASR):c.1542T%3EG%20(p.Tyr514Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1542T%3EG%20(p.Tyr514Ter)#id_secondClinvar
1555c.1555G>TE519*p.Glu519*InactivatingFHH1 (heterozygous)122275989NASNVNonsenseExon 5ECDPathogenicRodrigues20112146852210.1590/s0004-27302011000100009Journal article
1555c.1555G>TE519*p.Glu519*InactivatingNSHPT (homozygous)122275989NASNVNonsenseExon 5ECDPathogenicRodrigues20112146852210.1590/s0004-27302011000100009Journal article
1557c.1557_1560delE519fs*p.Glu519fs*NANA122275988NASmall deletionFrameshiftExon 5ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1376400/?oq=%22NM_000388.4(CASR):c.1557_1560del%20(p.Glu519fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1557_1560del%20(p.Glu519fs)#id_secondClinvar
1583c.1583T>AI528Np.Ile528AsnInactivatingFHH1 (heterozygous)122276017NASNVMissenseExon 5ECDNAKurnaz2021NA10.1159/000518849Conference abstract
1588c.1588T>CW530Rp.Trp530ArgInactivatingFHH1 (heterozygous)122276022NASNVMissenseExon 5ECDNAMoumli2012NAMoumli N, Zelissen PMJ, Bravenboer B. Primary hyperparathyroidism and familial hypocalciuric hypercalcemia, a diagnosis made 15 years after parathyroidectomy. Endocrine Reviews. 2012;33(3).Conference abstract
1588c.1588T>GW530Gp.Trp530GlyInactivatingFHH1122276022NASNVMissenseExon 5ECDNARus20081879651810.1210/jc.2008-1076Journal article
1608c.1608G>TE536Dp.Glu536AspInactivatingFHH1122276042NASNVMissenseExon 5ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1608c.1608+1G>ANANAInactivatingNSHPT (homozygous)122276043NASNVSplice donorExon 5-Intron 5 splice siteECDNACapozza20183037684510.1186/s12887-018-1319-0Journal article
1608c.1608+3A>G77-residue deletion77-residue deletionInactivatingFHH1 (heterozygous)122276045NASNVSplice donorExon 5-Intron 5 splice siteECDNAMadhavan20193196704010.4158/ACCR-2018-0236Journal article
1608c.1608+3A>CDeletion of Exon 5Deletion of Exon 5InactivatingFHH1122276045NASNVSplice donorExon 5-Intron 5 splice siteECDNAMouly20193234797110.1111/cen.14211Journal article
1608c.1608+3A>CDeletion of Exon 5Deletion of Exon 5InactivatingFHH1122276045NASNVSplice donorExon 5-Intron 5 splice siteECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1609c.1609-2A>GNANANANA122282111rs761084315SNVSplice acceptorExon 5-Intron 5 splice siteECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/854168/?oq=%22NM_000388.4(CASR):c.1609-2A%3EG%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1609-2A%3EG#id_secondClinvar
1609c.1609-1G>TExon 6 skipping, D578fs*48Exon 6 skipping, p.Asp578fs*48InactivatingFHH1122282112NASNVSplice acceptor/frameshiftIntron 5-Exon 6 splice siteECDNAMouly20193234797110.1111/cen.14211Journal article
1609c.1609-1G>TExon 6 skipping, D578fs*48Exon 6 skipping, p.Asp578fs*48InactivatingFHH1122282112NASNVSplice acceptor/frameshiftIntron 5-Exon 6 splice siteECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1624c.1624T>CC542Rp.Cys542ArgInactivatingFHH1122282128NASNVMissenseExon 6ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1625c.1625G>AC542Yp.Cys542TyrInactivatingFHH1 (heterozygous)122282129NASNVMissenseExon 6ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1630c.1630C>TR544*p.Arg544*InactivatingFHH1 (heterozygous)122282134rs886041637SNVNonsenseExon 6ECDPathogenicCetani2019NACetani F, Borsari S, Pardi E, Biagioni T, Bagattini B, Saponaro F, et al. Functional characterization of four mutations of the calcium sensing receptor gene identified in patients with familial hypocalciuric hypercalcemia type 1. Journal of Bone and Mineral Research. 2019;34:312.Conference abstract
1630c.1630C>TR544*p.Arg544*InactivatingNSHPT (compound heterozygous)122282134rs886041637SNVNonsenseExon 6ECDPathogenicKulkarni20142476381510.1007/s12098-014-1442-3Journal article
1630c.1630C>TR544*p.Arg544*InactivatingFHH1 (heterozygous)122282134rs886041637SNVNonsenseExon 6ECDPathogenicSorapipatcharoen20203188328410.1111/jpc.14757Conference abstract
1636c.1636T>AC546Sp.Cys546SerInactivatingFHH1 (heterozygous)122282140NASNVMissenseExon 6ECDNABhangu20183055444010.1002/hed.25568Journal article
1636c.1636T>AC546Sp.Cys546SerInactivatingFHH1 (heterozygous)122282140NASNVMissenseExon 6ECDNABhangu20223524266510.21037/gs-21-577Journal article
1636c.1636T>GC546Gp.Cys546GlyInactivatingFHH1 (heterozygous)122282140NASNVMissenseExon 6ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1637c.1637G>CC546Sp.Cys546SerInactivatingFHH1122282141NASNVMissenseExon 6ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1645c.1645G>AG549Rp.Gly549ArgInactivatingFHH1 (heterozygous)122282149NASNVMissenseExon 6ECDNAD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
1645c.1645G>AG549Rp.Gly549ArgInactivatingFHH1122282149NASNVMissenseExon 6ECDNAMouly20193234797110.1111/cen.14211Journal article
1645c.1645G>AG549Rp.Gly549ArgInactivatingFHH1122282149NASNVMissenseExon 6ECDNACole20091917945410.1677/JME-08-0164Journal article
1649c.1649C>TT550Ip.Thr550IleInactivatingNSHPT (heterozygous)122282153NASNVMissenseExon 6ECDNAAl-Salameh20112156607510.1530/EJE-11-0141Journal article
1649c.1649C>TT550Ip.Thr550IleInactivatingFHH1122282153NASNVMissenseExon 6ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1651c.1651A>GR551Gp.Arg551GlyInactivatingFHH1 (heterozygous)122282155NASNVMissenseExon 6ECDNAAndrade Navarroa20183045773110.5546/aap.2018.e757Journal article
1651c.1651A>GR551Gp.Arg551GlyInactivatingFHH1 (heterozygous)122282155NASNVMissenseExon 6ECDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1651c.1651A>GR551Gp.Arg551GlyInactivatingFHH1 (heterozygous)122282155NASNVMissenseExon 6ECDNANavarro20183045773110.5546/aap.2018.e757Journal article
1651c.1651A>GR551Gp.Arg551GlyInactivatingFHH1 (heterozygous)122282155NASNVMissenseExon 6ECDNAPapadakis20162822240910.14310/horm.2002.1711Journal article
1652c.1652G>AR551Kp.Arg551LysInactivatingFHH1 (heterozygous)122282156rs1060502861SNVMissenseExon 6ECDLikely pathogenicHinnie20092003427410.1258/rsmsmj.54.4.11Journal article
1652c.1652G>AR551Kp.Arg551LysInactivatingNSHPT (compound heterozygous)122282156rs1060502861SNVMissenseExon 6ECDLikely pathogenicTõke20071755550810.1111/j.1365-2265.2007.02896.xJournal article
1656c.1656delAI554Sfs*73p.Ile554Serfs*73InactivatingNSHPT (compound heterozygous)122282160NASmall deletionFrameshiftExon 6ECDNAPanova20213411169810.1016/j.scr.2021.102414Journal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicNissen20071769891110.1210/jc.2007-0322Journal article
1657c.1657G>AG553Rp.Gly553ArgInactivatingFHH1 (heterozygous)122282161rs104893719SNVMissenseExon 6ECDPathogenicSchwarz20001088549410.1080/003655100750044875Journal article
1661c.1661T>AI554Np.Ile554AsnInactivatingFHH1122282165NASNVMissenseExon 6ECDNAMouly20193234797110.1111/cen.14211Journal article
1661c.1661T>AI554Np.Ile554AsnInactivatingFHH1 (heterozygous)122282165NASNVMissenseExon 6ECDNATsai2018NATsai PH, Sung CC, Wang TH, Lin SHP. Sporadic hypocalciuric hypercalcemia caused by de novo casr mutation. Journal of the American Society of Nephrology. 2018;29:1219.Conference abstract
1661c.1661T>AI554Np.Ile554AsnInactivatingFHH1122282165NASNVMissenseExon 6ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1661c.1661T>CI554Tp.Ile554ThrActivatingADH1122282165rs2074897929SNVMissenseExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/992424/?oq=%22NM_000388.4(CASR):c.1661T%3EC%20(p.Ile554Thr)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1661T%3EC%20(p.Ile554Thr)#id_secondClinvar
1663c.1663A>GI555Vp.Ile555ValInactivatingFHH1 (heterozygous)122282167rs777646067SNVMissenseExon 6ECDVUSNissen20071769891110.1210/jc.2007-0322Journal article
1664c.1664T>CI555Tp.Ile555ThrInactivatingFHH1 (heterozygous)122282168rs1576875819SNVMissenseExon 6ECDConflicting interpretations of pathogenicityGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1664c.1664T>CI555Tp.Ile555ThrInactivatingFHH1122282168rs1576875819SNVMissenseExon 6ECDConflicting interpretations of pathogenicityMouly20193234797110.1111/cen.14211Journal article
1664c.1664T>CI555Tp.Ile555ThrInactivatingNSHPT (heterozygous)122282168rs1576875819SNVMissenseExon 6ECDConflicting interpretations of pathogenicityTonyushkina20122262067310.1186/1687-9856-2012-13Journal article
1664c.1664T>CI555Tp.Ile555ThrInactivatingFHH1 (heterozygous)122282168rs1576875819SNVMissenseExon 6ECDConflicting interpretations of pathogenicityWang20203287193910.1097/MD.0000000000021940Journal article
1666c.1666G>AE556Kp.Glu556LysActivatingADH1122282170NASNVMissenseExon 6ECDNALivadariu20112156607410.1530/EJE-11-0121Journal article
1666c.1666G>AE556Kp.Glu556LysActivatingADH1122282170NASNVMissenseExon 6ECDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
1670c.1670G>AG557Ep.Gly557GluInactivatingFHH1122282174rs1576875835SNVMissenseExon 6ECDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
1670c.1670G>AG557Ep.Gly557GluInactivatingFHH1122282174rs1576875835SNVMissenseExon 6ECDLikely pathogenicNakamura20011176269910.1385/ENDO:15:3:277Journal article
1670c.1670G>AG557Ep.Gly557GluInactivatingFHH1 (Heterozygous)122282174rs1576875835SNVMissenseExon 6ECDLikely pathogenicZajíčková20203309463010.33549/physiolres.934522Journal article
1672c.1672dupE558fs*p.Glu558fs*InactivatingFHH1122282171NASmall insertionFrameshiftExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1678560/?oq=%22NM_000388.4(CASR):c.1672dup%20(p.Glu558fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1672dup%20(p.Glu558fs)#id_secondClinvar
1673c.1673A>GE558Gp.Glu558GlyNANA122282177rs1553768726SNVMissenseExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/432667/?oq=%22NM_000388.4(CASR):c.1673A%3EG%20(p.Glu558Gly)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1673A%3EG%20(p.Glu558Gly)#id_secondClinvar
1676c.1676C>AP559Hp.Pro559HisInactivatingFHH1122282180rs193922425SNVMissenseExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35780/?oq=%22NM_000388.4(CASR):c.1676C%3EA%20(p.Pro559His)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1676C%3EA%20(p.Pro559His)Clinvar
1682c.1682G>CC561Sp.Cys561SerInactivatingFHH1122282186NASNVMissenseExon 6ECDNAMouly20193234797110.1111/cen.14211Journal article
1685c.1685G>AC562Yp.Cys562TyrInactivatingFHH1 (heterozygous)122282189NASNVMissenseExon 6ECDNABurski20021188915410.1210/jcem.87.3.8304Journal article
1685c.1685G>AC562Yp.Cys562TyrInactivatingFHH1 (heterozygous)122282189NASNVMissenseExon 6ECDNANissen20071769891110.1210/jc.2007-0322Journal article
1685c.1685G>AC562Yp.Cys562TyrInactivatingFHH1122282189NASNVMissenseExon 6ECDNACole20091917945410.1677/JME-08-0164Journal article
1685c.1685_1686delinsCTC562Sp.Cys562SerNANA122282189rs193922427Small insertion/deletionMissenseExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35782/?oq=%22NM_000388.4(CASR):c.1685_1686delinsCT%20(p.Cys562Ser)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1685_1686delinsCT%20(p.Cys562Ser)#id_firstClinvar
1685c.1685G>CC562Sp.Cys562SerInactivatingFHH1122282189rs193922426SNVMissenseExon 6ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35781/?oq=%22NM_000388.4(CASR):c.1685G%3EC%20(p.Cys562Ser)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1685G%3EC%20(p.Cys562Ser)#id_secondClinvar
1693c.1693T>GC565Gp.Cys565GlyInactivatingFHH1122282197rs1559967708SNVMissenseExon 6ECDVUSCole20091917945410.1677/JME-08-0164Journal article
1697c.1697_1698delTGV566Gfs*4p.Val566Glyfs*4InactivatingFHH1122282201NASmall deletionFrameshiftExon 6ECDNACordes20162792695110.1055/s-0042-120415Journal article
1703c.1703G>AC568Yp.Cys568TyrInactivatingFHH1 (heterozygous)122282207NASNVMissenseExon 6ECDVUSGunganah20142504552310.1530/EDM-14-0050Journal article
1703c.1703G>AC568Yp.Cys568TyrInactivatingFHH1122282207NASNVMissenseExon 6ECDVUSRus20081879651810.1210/jc.2008-1076Journal article
1706c.1706C>AP569Hp.Pro569HisActivatingADH1122282210NASNVMissenseExon 6ECDNANakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
1706c.1706C>AP569Hp.Pro569HisActivatingADH1122282210NASNVMissenseExon 6ECDNANakamura20132396624110.1210/jc.2013-1974Journal article
1709c.1709A>GD570Gp.Asp570GlyInactivatingFHH1122282213NASNVMissenseExon 6ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1711c.1711G>TG571Wp.Gly571TrpInactivatingFHH1 (heterozygous)122282215NASNVMissenseExon 6ECDNAKim20152638683510.1007/s00774-015-0713-zJournal article
1718c.1718A>GY573Cp.Tyr573CysInactivatingFHH1 (heterozygous)122282222NASNVMissenseExon 6ECDNAHannan20122242276710.1093/hmg/dds105Journal article
1719c.1719T>AY573*p.Tyr573*InactivatingFHH1 (heterozygous)122282223NASNVNonsenseExon 6ECDNAChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1719c.1719T>AY573*p.Tyr573*InactivatingFHH1 (heterozygous)122282223NASNVNonsenseExon 6ECDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
1719c.1719T>AY573*p.Tyr573*InactivatingFHH1 (heterozygous)122282223NASNVNonsenseExon 6ECDNANissen20071769891110.1210/jc.2007-0322Journal article
1733c.1733-255_2450delShorter protein due to affected exon 7 splice siteShorter protein due to affected exon 7 splice siteInactivatingFHH1 (heterozygous)122283432NACNVDeletionIntron 6-Exon 7ECDNAGarcía-Castaño20183053087510.1530/EDM-18-0114Journal article
1740c.1740T>AS580Rp.Ser580ArgInactivatingFHH1 (heterozygous)122283694NASNVMissenseExon 7ECDNABhangu20183055444010.1002/hed.25568Journal article
1740c.1740T>AS580Rp.Ser580ArgInactivatingFHH1 (heterozygous)122283694NASNVMissenseExon 7ECDNABhangu20223524266510.21037/gs-21-577Journal article
1744c.1744T>CC582Rp.Cys582ArgInactivatingFHH1122283698NASNVMissenseExon 7ECDNAJoseph2022NAhttps://jme.bioscientifica.com/abstract/journals/jme/69/1/JME-21-0263.xmlJournal article
1744c.1744T>AC582Sp.Cys582SerNANA122283698rs2074920676SNVMissenseExon 7ECDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/853442/?oq=%22NM_000388.4(CASR):c.1744T%3EA%20(p.Cys582Ser)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1744T%3EA%20(p.Cys582Ser)Clinvar
1745c.1745G>AC582Yp.Cys582TyrInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1745c.1745G>TC582Fp.Cys582PheInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1745c.1745G>AC582Yp.Cys582TyrInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1745c.1745G>TC582Fp.Cys582PheInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1745c.1745G>TC582Fp.Cys582PheInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
1745c.1745G>TC582Fp.Cys582PheInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
1745c.1745G>AC582Yp.Cys582TyrInactivatingNSHPT (compound heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicLeunbach20213374835310.1016/j.bonr.2021.100761Journal article
1745c.1745G>AC582Yp.Cys582TyrInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicNissen20071769891110.1210/jc.2007-0322Journal article
1745c.1745G>TC582Fp.Cys582PheInactivatingFHH1 (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicNissen20071769891110.1210/jc.2007-0322Journal article
1745c.1745G>AC582Yp.Cys582TyrInactivatingNSHPT (heterozygous)122283699rs104893690SNVMissenseExon 7ECDPathogenicPearce1995867563510.1172/JCI118335Journal article
1745c.1745G>AC582Yp.Cys582TyrInactivatingFHH1122283699rs104893690SNVMissenseExon 7ECDPathogenicCole20091917945410.1677/JME-08-0164Journal article
1746c.1746_1747insTN583*p.Asn583*InactivatingFHH1122283700NASmall insertionNonsenseExon 7ECDVUSCole20091917945410.1677/JME-08-0164Journal article
1746c.1746_1747insTN583*p.Asn583*InactivatingFHH1122283700NASmall insertionNonsenseExon 7ECDVUSPidasheva20061674059410.1093/hmg/ddl145Journal article
1750c.1750A>TK584*p.Lys584*InactivatingFHH1 (heterozygous)122283704rs1057523748SNVMissenseExon 7ECDVUS/Likely pathogenicHans2022NAHans SK, Levine SN. A previously unreported mutation of the calcium sensing receptor causing familial hypocalciuric hypercalcemia. Endocrine Reviews. 2017;38(3)Conference abstract
1754c.1754G>TC585Fp.Cys585PheInactivatingFHH1122283708NASNVMissenseExon 7ECDNAMouly20193234797110.1111/cen.14211Journal article
1754c.1754G>TC585Fp.Cys585PheInactivatingFHH1122283708NASNVMissenseExon 7ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1759c.1759dupD587fs*p.Asp587fs*NANA122283712NASmall insertionFrameshiftExon 7ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1373420/?oq=%22NM_000388.4(CASR):c.1759dup%20(p.Asp587fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1759dup%20(p.Asp587fs)Clinvar
1772c.1772C>GS591Cp.Ser591CysInactivatingFHH1122283726NASNVMissenseExon 7ECDNANyweide20061711086410.1097/01.pec.0000238747.19477.d3Journal article
1772c.1772C>GS591Cp.Ser591CysInactivatingFHH1122283726NASNVMissenseExon 7ECDNATaki20152601987210.1530/EDM-15-0016Journal article
1781c.1781A>CN594Tp.Asn594ThrInactivatingFHH1122283735NASNVMissenseExon 7ECDNANissen20193143386510.1111/cen.14078Journal article
1783c.1783delH595fs*p.His595fs*NANA122283736NASmall deletionFrameshiftExon 7ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1071398/?oq=%22NM_000388.4(CASR):c.1783del%20(p.His595fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1783del%20(p.His595fs)#id_secondClinvar
1782c.1782C>TH595Yp.His595TyrInactivatingFHH1 (heterozygous)122283736NASNVMissenseExon 7ECDNACetani20091907383010.1530/EJE-08-0798Journal article
1801c.1801A>CK601Qp.Lys601GlnInactivatingFHH1 (heterozygous)122283755NASNVMissenseExon 7ECDNABhangu20183055444010.1002/hed.25568Journal article
1801c.1801A>CK601Qp.Lys601GlnInactivatingFHH1 (heterozygous)122283755NASNVMissenseExon 7ECDNABhangu20223524266510.21037/gs-21-577Journal article
1802c.1802delK601fs*p.Lys601fs*NANA122283755NASmall deletionFrameshiftExon 7ECDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1425273/?oq=%22NM_000388.4(CASR):c.1802del%20(p.Lys601fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1802del%20(p.Lys601fs)#id_secondClinvar
1803c.1803G>CK601Np.Lys601AsnInactivatingFHH1122283757NASNVMissenseExon 7ECDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicÁlvarez-Hernández20031451909410.1677/jme.0.0310255Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicIglesias20061704329210.1136/jnnp.2006.097162Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicSchmidt20183027646210.1007/s00423-018-1711-0Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicTan20031257418810.1210/jc.2002-020081Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicCole20091917945410.1677/JME-08-0164Journal article
1810c.1810G>AE604Kp.Glu604LysActivatingADH1122283764rs104893712SNVMissenseExon 7ECDPathogenicWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
1817c.1817T>CL606Pp.Leu606ProInactivatingNSHPT (homozygous)122283771NASNVMissenseExon 7ECDVUSWejaphikul20233662688910.1159/000528568Journal article
1820c.1820C>AS607*p.Ser607*InactivatingFHH1 (heterozygous)122283774NASNVNonsenseExon 7ECDVUSPearce1995867563510.1172/JCI118335Journal article
1829c.1829A>GE610Gp.Glu610GlyActivatingADH1122283783NASNVMissenseExon 7ECDNAHannan20122242276710.1093/hmg/dds105Journal article
1835c.1835C>TF612Sp.Phe612SerActivatingADH1122283789rs104893698SNVMissenseExon 7ECDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
1835c.1835C>TF612Sp.Phe612SerActivatingADH1122283789rs104893698SNVMissenseExon 7ECDPathogenicPearce1996881304210.1056/NEJM199610103351505Journal article
1836c.1836G>AG613Ep.Gly613GluInactivatingNSHPT (homozygous)122283790NASNVMissenseExon 7TMDNAGulcan-Kersin20203314758610.1159/000510623Journal article
1836c.1836delTF612fs*15p.Phe612fs*15InactivatingFHH1 (heterozygous)122283790NASmall deletionFrameshiftExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
1837c.1837G>CG613Rp.Gly613ArgInactivatingFHH1 (heterozygous)122283791rs1060502842SNVMissenseExon 7TMDVUS/Likely pathogenicRasmussen20112214247010.1186/1752-1947-5-564Journal article
1846c.1846C>GL616Vp.Leu616ValActivatingADH1122283800rs104893703SNVMissenseExon 7TMDPathogenicStock19991048766110.1210/jcem.84.9.5977Journal article
1849c.1849delT627fs*p.Thr627fs*NANA122283803rs1553768938Small deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/446987/?oq=%22NM_000388.4(CASR):c.1849del%20(p.Thr617fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1849del%20(p.Thr617fs)Clinvar
1852c.1852delL618fs*p.Leu618fs*NANA122283804NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1449397/?oq=%22NM_000388.4(CASR):c.1852del%20(p.Leu618fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1852del%20(p.Leu618fs)Clinvar
1855c.1855_1857delTTL618fs*81p.Leu618fs*81InactivatingFHH1122283809NASmall deletionFrameshiftExon 7TMDNANissen20193143386510.1111/cen.14078Journal article
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous, neonatal)122283822NASNVMissenseExon 7TMDVUSBraun2010PMC710204910.1007/s00467-010-1577-zConference abstract
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous, neonatal)122283822NASNVMissenseExon 7TMDVUSBraun20102200193210.1159/000321348Conference abstract
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous)122283822NASNVMissenseExon 7TMDVUSChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous)122283822NASNVMissenseExon 7TMDVUSChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous)122283822NASNVMissenseExon 7TMDVUSJakobsen20132376437210.1530/EJE-13-0224Journal article
1868c.1868G>AG623Dp.Gly623AspInactivatingFHH1 (heterozygous)122283822NASNVMissenseExon 7TMDVUSNissen20071769891110.1210/jc.2007-0322Journal article
1868c.1868delG623fs*p.Gly623fs*NANA122283820NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1076659/?oq=%22NM_000388.4(CASR):c.1868del%20(p.Gly623fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1868del%20(p.Gly623fs)#id_secondClinvar
1884c.1884delF629fs*p.Phe629fs*InactivatingFHH1122283837rs193922429Small deletionFrameshiftExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35784/?oq=%22NM_000388.4(CASR):c.1884del%20(p.Phe629fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1884del%20(p.Phe629fs)#id_secondClinvar
1898c.1898_1932dupA645fs*p.Ala645fs*NANA122283850rs2074924614Small insertionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/950326/?oq=%22NM_000388.4(CASR):c.1898_1932dup%20(p.Ala645fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1898_1932dup%20(p.Ala645fs)Clinvar
1901c.1901T>CF634Sp.Phe634SerInactivatingFHH1122283855NASNVMissenseExon 7TMDConflicting interpretations of pathogenicityMouly20193234797110.1111/cen.14211Journal article
1901c.1901T>CF634Sp.Phe634SerInactivatingFHH1122283855NASNVMissenseExon 7TMDConflicting interpretations of pathogenicityVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1913c.1913G>TR638Lp.Arg638LeuInactivatingFHH1 (heterozygous)122283867rs201852643SNVMissenseExon 7TMDConflicting interpretations of pathogenicityCorrado20152582895410.1002/jbmr.2516Journal article
1913c.1913G>TR638Lp.Arg638LeuInactivatingNSHPT (compound heterozygous)122283867rs201852643SNVMissenseExon 7TMDConflicting interpretations of pathogenicityCorrado20152582895410.1002/jbmr.2516Journal article
1913c.1913dupN639fs*p.Asn639fs*NANA122283866rs1576877163Small insertionFrameshiftExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/804661/?oq=%22NM_000388.4(CASR):c.1913dup%20(p.Asn639fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1913dup%20(p.Asn639fs)#id_secondClinvar
1919c.1919C>TT640Ip.Thr640IleInactivatingFHH1122283873rs1559968450SNVMissenseExon 7TMDVUSMouly20193234797110.1111/cen.14211Journal article
1919c.1919C>TT640Ip.Thr640IleInactivatingFHH1122283873rs1559968450SNVMissenseExon 7TMDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1929c.1929_1930delGTF644Yfs*73p.Phe644Tyrfs*73InactivatingFHH1 (heterozygous)122283883NASmall deletionFrameshiftExon 7TMDNAMariathasan20203243090510.1111/cen.14254Journal article
1934c.1934C>AA645Dp.Ala645AspInactivatingFHH1 (heterozygous)122283888rs193922430SNVMissenseExon 7TMDLikely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
1942c.1942C>TR648*p.Arg648*InactivatingNSHPT (compound heterozygous)122283896rs104893705SNVNonsenseExon 7TMDVUS/PathogenicEdouard2013NAEdouard T, Mouly C, Mimoun E, Gennero I, Magdelaine C, Salles JP. Management of a new case of neonatal hypocalciuric hypercalcaemia related to mutation of the calcium-sensing receptor gene with bone abnormalities. Hormone Research in Paediatrics. 2013;80:223.Conference abstract
1942c.1942C>TR648*p.Arg648*InactivatingFHH1 (heterozygous)122283896rs104893705SNVMissenseExon 7TMDVUS/PathogenicJap20011123197010.1210/jcem.86.1.7149Journal article
1942c.1942C>TR648*p.Arg648*InactivatingFHH1122283896rs104893705SNVMissenseExon 7TMDVUS/PathogenicMouly20193234797110.1111/cen.14211Journal article
1942c.1942C>TR648*p.Arg648*InactivatingFHH1122283896rs104893705SNVNonsenseExon 7TMDVUS/PathogenicNakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
1942c.1942C>TR648*p.Arg648*InactivatingNSHPT (compound heterozygous)122283896rs104893705SNVNonsenseExon 7TMDVUS/PathogenicWard20041529229610.1210/jc.2003-031653Journal article
1942c.1942C>TR648*p.Arg648*InactivatingFHH1 (heterozygous)122283896rs104893705SNVNonsenseExon 7TMDVUS/PathogenicYamauchi20021246991110.1359/jbmr.2002.17.12.2174Journal article
1949c.1949T>CL650Pp.Leu650ProInactivatingFHH1 (heterozygous)122283903NASNVMissenseExon 7TMDNAWarner20041498537310.1136/jmg.2003.016725Journal article
1952c.1952_1966delS651_L655delp.Ser651_Leu655delInactivatingFHH1 (heterozygous)122283906NASNVMissenseExon 7TMDNAMonastiri2010NA10.1159/000321348Conference abstract
1952c.1952_1966delS651_L655delp.Ser651_Leu655delInactivatingFHH1 (heterozygous)122283906NASmall deletionDeletionExon 7TMDNASfar20122166724110.1007/s11033-011-0990-0Journal article
1952c.1952_1966delS651_L655delp.Ser651_Leu655delInactivatingNSHPT (homozygous)122283906NASmall deletionDeletionExon 7TMDNASfar20122166724110.1007/s11033-011-0990-0Journal article
1963c.1963_1965delCTCL655delp.Leu655delInactivatingFHH1122283917NASmall deletionDeletionExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
1963c.1963_1965delCTCL655delp.Leu655delInactivatingFHH1122283917NASmall deletionDeletionExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1970c.1970C>GS657Cp.Ser657CysActivatingADH1122283924NASNVMissenseExon 7TMDNAGorvin20182946377810.1126/scisignal.aan3714Journal article
1970c.1970C>GS657Cp.Ser657CysActivatingADH1122283924NASNVMissenseExon 7TMDNAGorvin20183005293310.1093/hmg/ddy263Journal article
1972c.1972delL658fs*p.Leu658fs*NANA122283924rs1553768972Small deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/463917/?oq=%22NM_000388.4(CASR):c.1972del%20(p.Leu658fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.1972del%20(p.Leu658fs)#id_secondClinvar
1982c.1982G>AC661Yp.Cys661TyrInactivatingFHH1122283936NASNVMissenseExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
1983c.1983C>GC661Wp.Cys661TrpInactivatingFHH1122283937NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
1997c.1997_1998insTL656fs*42p.Leu656fs*42InactivatingFHH1 (heterozygous)122283951NASmall insertionFrameshiftExon 7TMDNAChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
1997c.1997_1998insTL656fs*42p.Leu656fs*42InactivatingFHH1 (heterozygous)122283951NASmall insertionFrameshiftExon 7TMDNAChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
1997c.1997_1998insTL656fs*42p.Leu656fs*42InactivatingFHH1 (heterozygous)122283951NASmall insertionFrameshiftExon 7TMDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
1997c.1997_1998insTL656fs*42p.Leu656fs*42InactivatingFHH1 (heterozygous)122283951NASmall insertionFrameshiftExon 7TMDNANissen20071769891110.1210/jc.2007-0322Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1 (heterozygous)122283962NASNVMissenseExon 7TMDLikely pathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1 (heterozygous)122283962NASNVMissenseExon 7TMDLikely pathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1 (heterozygous)122283962NASNVMissenseExon 7TMDLikely pathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
2008c.2009G>AG670Ep.Gly670GluInactivatingNSHPT (compound heterozygous)122283963rs104893700SNVMissenseExon 7TMDPathogenicKobayashi1997925335910.1210/jcem.82.8.4135Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1122283962NASNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1122283962NASNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1122283962NASNVMissenseExon 7TMDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1 (heterozygous)122283962NASNVMissenseExon 7TMDLikely pathogenicNissen20071769891110.1210/jc.2007-0322Journal article
2008c.2008G>AG670Rp.Gly670ArgInactivatingFHH1 (heterozygous)122283962NASNVMissenseExon 7TMDLikely pathogenicPearce1995867563510.1172/JCI118335Journal article
2008c.2008G>CG670Rp.Gly670ArgNANA122283962NASNVMissenseExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1397805/?oq=%22NM_000388.4(CASR):c.2008G%3EC%20(p.Gly670Arg)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2008G%3EC%20(p.Gly670Arg)#id_secondClinvar
2010c.2010_2011delE681fs*p.Glu681fs*NANA122283962rs2074927630Small deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/945014/?oq=%22NM_000388.4(CASR):c.2010_2011del%20(p.Glu671fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2010_2011del%20(p.Glu671fs)#id_secondClinvar
2013c.2013G>CE671Dp.Glu671AspInactivatingFHH1 (homozygous)122283967NASNVMissenseExon 7TMDNABorsari20172862080610.1007/s40618-017-0710-2Journal article
2013c.2013G>CE671Dp.Glu671AspInactivatingFHH1 (heterozygous)122283967NASNVMissenseExon 7TMDNACetani2019NACetani F, Borsari S, Pardi E, Biagioni T, Bagattini B, Saponaro F, et al. Functional characterization of four mutations of the calcium sensing receptor gene identified in patients with familial hypocalciuric hypercalcemia type 1. Journal of Bone and Mineral Research. 2019;34:312.Conference abstract
2014c.2014C>AP672Tp.Pro672ThrInactivatingFHH1122283968rs193922431SNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35786/?oq=%22NM_000388.4(CASR):c.2014C%3EA%20(p.Pro672Thr)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2014C%3EA%20(p.Pro672Thr)#id_secondClinvar
2024c.2024G>AW675*p.Trp675*InactivatingFHH1122283978NASNVNonsenseExon 7TMDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2029c.2029dupC677Lfs*31p.Cys677Leufs*31InactivatingFHH1122283983NASmall insertionFrameshiftExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2029c.2029dupC677Lfs*31p.Cys677Leufs*31InactivatingFHH1122283983NASmall insertionFrameshiftExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2030c.2030G>AC677Yp.Cys677TyrInactivatingFHH1 (heterozygous)122283984NASNVMissenseExon 7TMDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2030c.2030delC677fs*p.Cys677fs*InactivatingFHH1122283984NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1377560/?oq=%22NM_000388.4(CASR):c.2030del%20(p.Cys677fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2030del%20(p.Cys677fs)#id_firstClinvar
2033c.2033G>AR678Hp.Arg678HisInactivatingFHH1122283987rs1278025825SNVMissenseExon 7TMDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2036c.2036T>CL679Pp.Leu679ProInactivatingFHH1122283990rs1553768983SNVMissenseExon 7TMDVUSNissen20193143386510.1111/cen.14078Journal article
2038c.2038C>GR680Gp.Arg680GlyActivatingADH1122283992NASNVMissenseExon 7TMDNAGorvin20182946377810.1126/scisignal.aan3714Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingNSHPT (compound heterozygous)122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingNSHPT (homozygous)122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicHassan20213488797910.11604/pamj.2021.40.105.29527Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingFHH1122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2038c.2038C>AR680Sp.Arg680SerInactivatingFHH1122283992NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingFHH1122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingFHH1122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicNissen20193143386510.1111/cen.14078Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingFHH1 (heterozygous)122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicPearce1995867563510.1172/JCI118335Journal article
2038c.2038C>TR680Cp.Arg680CysInactivatingNSHPT (compound heterozygous)122283992rs767363250SNVMissenseExon 7TMDLikely pathogenicWaller20041524168810.1007/s00431-004-1491-0Journal article
2039c.2039G>AR680Hp.Arg680HisInactivatingNSHPT (homozygous)122283993rs773146939SNVMissenseExon 7TMDLikely pathogenicHaider2022NA10.1159/000518849Conference abstract
2039c.2039G>AR680Hp.Arg680HisInactivatingFHH1 (heterozygous)122283993rs773146939SNVMissenseExon 7TMDLikely pathogenicKurian20213499303110.7759/cureus.20057Journal article
2039c.2039G>AR680Hp.Arg680HisInactivatingFHH1122283993rs773146939SNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2039c.2039G>AR680Hp.Arg680HisInactivatingFHH1122283993rs773146939SNVMissenseExon 7TMDLikely pathogenicMouly20193234797110.1111/cen.14211Journal article
2039c.2039G>AR680Hp.Arg680HisInactivatingFHH1122283993rs773146939SNVMissenseExon 7TMDLikely pathogenicCole20091917945410.1677/JME-08-0164Journal article
2042c.2042A>GQ681Rp.Gln681ArgActivatingADH1122283996NASNVMissenseExon 7TMDLikely pathogenicGuarnieri20122278968310.1016/j.ymgme.2012.06.012Journal article
2042c.2042A>GQ681Rp.Gln681ArgActivatingADH1122283996NASNVMissenseExon 7TMDLikely pathogenicMazurek2022NA10.1016/j.eprac.2022.03.234Journal article
2043c.2043G>TQ681Hp.Gln681HisActivatingADH1122283997rs121909261SNVMissenseExon 7TMDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
2043c.2043G>TQ681Hp.Gln681HisActivatingADH1122283997rs121909261SNVMissenseExon 7TMDPathogenicBaron1996873312610.1093/hmg/5.5.601Journal article
2045c.2045C>TP682Lp.Pro682LeuInactivatingNSHPT (compound heterozygous)122283999rs1553768989SNVMissenseExon 7TMDVUSLeunbach20213374835310.1016/j.bonr.2021.100761Journal article
2048c.2048C>AA683Dp.Ala683AspInactivatingFHH1122284002NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2054c.2054G>TG685Vp.Gly685ValInactivatingNSHPT (homozygous)122284008NASNVMissenseExon 7TMDNAAlqadi20183228979310.1159/000492307Conference abstract
2054c.2054G>CG685Ap.Gly685AlaInactivatingFHH1 (heterozygous)122284008rs1576877377SNVMissenseExon 7TMDVUSSaba2017NA10.1159/000481424Conference abstract
2065c.2065G>AV689Mp.Val689MetInactivatingFHH1 (heterozygous)122284019NASNVMissenseExon 7TMDLikely pathogenicMariathasan20203243090510.1111/cen.14254Journal article
2065c.2065G>AV689Mp.Val689MetInactivatingFHH1 (heterozygous)122284019NASNVMissenseExon 7TMDLikely pathogenicSharma20203284346510.1136/bcr-2020-237036Journal article
2065c.2065G>AV689Mp.Val689MetInactivatingFHH1 (heterozygous)122284019NASNVMissenseExon 7TMDLikely pathogenicWarner20041498537310.1136/jmg.2003.016725Journal article
2069c.2069T>GL690Rp.Leu690ArgInactivatingFHH1122284023NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2072c.2072G>AC691Yp.Cys691TyrInactivatingFHH1122284026NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2078c.2078C>TS693Lp.Ser693LeuInactivatingFHH1122284032NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2083c.2083_2106dupI695_V702dupp.Ile695_Val702dupInactivatingFHH1122284037NASmall insertionSmall insertionExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2086c.2086C>GL696Vp.Leu696ValActivatingADH1122284040NASNVMissenseExon 7TMDNAGomes20203251376310.1136/bcr-2020-234391Journal article
2086c.2086C>GL696Vp.Leu696ValActivatingADH1122284040NASNVMissenseExon 7TMDNASilvestre2018NASilvestre CF, Carvalho MR, Bugalho MJ. Familial hypoparathyroidism: A novel casr gene mutation. Endocrine Reviews. 2018;39(2).Conference abstract
2089c.2089G>AV697Mp.Val697MetInactivatingFHH1 (heterozygous)122284043NASNVMissenseExon 7TMDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2089c.2089G>AV697Mp.Val697MetInactivatingFHH1 (heterozygous)122284043NASNVMissenseExon 7TMDNALópez20122164365110.1007/s00431-011-1504-8Journal article
2089c.2089G>AV697Mp.Val697MetInactivatingFHH1122284043NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2096c.2096C>AT699Np.Thr699AsnInactivatingFHH1 (heterozygous)122284050NASNVMissenseExon 7TMDNAArshad20213289215910.1136/postgradmedj-2020-137718Journal article
2096c.2096C>AT699Np.Thr699AsnInactivatingFHH1 (heterozygous)122284050NASNVMissenseExon 7TMDNAMullin20223535600710.1210/jendso/bvac025Journal article
2097c.2097delN700fs*p.Asn700fs*NANA122284050rs1576877427Small deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/804662/?oq=%22NM_000388.4(CASR):c.2097del%20(p.Asn700fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2097del%20(p.Asn700fs)#id_secondClinvar
2101c.2101delCR701fs*p.Arg701fs*InactivatingFHH1 (heterozygous)122284055NASmall deletionFrameshiftExon 7TMDPathogenicMariathasan20203243090510.1111/cen.14254Journal article
2101c.2101C>GR701Gp.Arg701GlyInactivatingFHH1 (heterozygous)122284055NASNVMissenseExon 7TMDNAMullin20223535600710.1210/jendso/bvac025Journal article
2102c.2102G>CR701Pp.Arg701ProInactivatingFHH1 (heterozygous)122284056NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2120c.2120A>TE707Vp.Glu707ValInactivatingFHH1 (heterozygous)122284074NASNVMissenseExon 7TMDNAQuaglia2012NA10.1093/ndt/gfs201Conference abstract
2120c.2120A>TE707Vp.Glu707ValInactivatingFHH1 (heterozygous)122284074NASNVMissenseExon 7TMDNAStrata20142510408210.1093/ndt/gfu065Journal article
2146c.2146C>TR716Cp.Arg716CysInactivatingFHH1 (heterozygous)122284100NASNVMissenseExon 7TMDNAGhazvani20162795735110.1155/2016/2725486Journal article
2148c.2148dupK717fs*p.Lys717fs*NANA122284101NASmall insertionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1442327/?oq=%22NM_000388.4(CASR):c.2148dup%20(p.Lys717fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2148dup%20(p.Lys717fs)#id_secondClinvar
2154c.2154G>AW718*p.Trp718*InactivatingFHH1 (heterozygous)122284108NASNVNonsenseExon 7TMDVUS/PathogenicFrank-Raue20112152132810.1111/j.1365-2265.2011.04059.xJournal article
2154c.2154G>AW718*p.Trp718*InactivatingFHH1122284108NASNVNonsenseExon 7TMDVUS/PathogenicMouly20193234797110.1111/cen.14211Journal article
2154c.2154G>AW718*p.Trp718*InactivatingFHH1122284108NASNVNonsenseExon 7TMDVUS/PathogenicRus20081879651810.1210/jc.2008-1076Journal article
2154c.2154delinsCCW718fs*p.Trp718fs*NANA122284108rs1064793353Small insertion/deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/418664/?oq=%22NM_000388.4(CASR):c.2154delinsCC%20(p.Trp718fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2154delinsCC%20(p.Trp718fs)#id_secondClinvar
2156c.2156G>AW719*p.Trp719*InactivatingFHH1122284110NASNVNonsenseExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1683780/?oq=%22NM_000388.4(CASR):c.2156G%3EA%20(p.Trp719Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2156G%3EA%20(p.Trp719Ter)#id_secondClinvar
2165c.2165A>GN722Sp.Asn722SerActivatingADH1122284119NASNVMissenseExon 7TMDNASchoutteten201728741586NAJournal article
2165c.2165delN722fs*p.Asn722fs*NANA122284118rs1559968729Small deletionFrameshiftExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/562459/?oq=%22NM_000388.4(CASR):c.2165del%20(p.Asn722fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2165del%20(p.Asn722fs)Clinvar
2168c.2168T>AL723Qp.Leu723GlnActivatingADH1 in mouse122284122NASNVMissenseExon 7TMDNAHough20041534780410.1073/pnas.0405516101Journal article
2180c.2180T>AL727Qp.Leu727GlnActivatingADH1122284134rs104893718SNVMissenseExon 7TMDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
2180c.2180T>AL727Qp.Leu727GlnActivatingADH1122284134rs104893718SNVMissenseExon 7TMDPathogenicMittleman20061660889410.1210/jc.2005-2605Journal article
2182c.2182G>AV728Fp.Val728PheInactivatingFHH1 (heterozygous)122284136NASNVMissenseExon 7TMDNAChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
2182c.2182G>AV728Fp.Val728PheInactivatingFHH1 (heterozygous)122284136NASNVMissenseExon 7TMDNAChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
2182c.2182G>TV728Fp.Val728PheInactivatingFHH1 (heterozygous)122284136NASNVMissenseExon 7TMDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
2182c.2182G>AV728Fp.Val728PheInactivatingFHH1 (heterozygous)122284136NASNVMissenseExon 7TMDNANissen20071769891110.1210/jc.2007-0322Journal article
2201c.2201T>GM734Rp.Met734ArgInactivatingFHH1122284155NASNVMissenseExon 7TMDNALeach20122279834710.1210/en.2012-1449Journal article
2201c.2201T>GM734Rp.Met734ArgInactivatingFHH1122284155NASNVMissenseExon 7TMDNARus20081879651810.1210/jc.2008-1076Journal article
2201c.2201T>CM734Tp.Met734ThrActivatingADH1122284155NASNVMissenseExon 7TMDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
2203c.2203C>AQ735Kp.Gln735LysInactivatingFHH1122284157rs1553769052SNVMissenseExon 7TMDVUSMouly20193234797110.1111/cen.14211Journal article
2204c.2204A>CQ735Pp.Gln735ProActivatingADH1122284158NASNVMissenseExon 7TMDNAWong201121471599https://www.hkmj.org/abstracts/v17n2/157.htmJournal article
2217c.2217T>AC739*p.Cys739*InactivatingNSHPT (compound heterozygous)122284171NASNVMissenseExon 7TMDVUSPanova20213411169810.1016/j.scr.2021.102414Journal article
2224c.2224T>CW742Rp.Trp742ArgInactivatingFHH1 (heterozygous)122284178NASNVMissenseExon 7TMDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
2224c.2224T>CW742Rp.Trp742ArgInactivatingFHH1 (heterozygous)122284178NASNVMissenseExon 7TMDNANissen20071769891110.1210/jc.2007-0322Journal article
2228c.2228T>CL743Pp.Leu743ProInactivatingFHH1122284182NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2237c.2237C>TA746Pp.Ala746ProInactivatingFHH1122284191NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2239c.2239_2240delinsTP747fs*28p.Pro747fs*28InactivatingNSHPT (homozygous)122284193NASmall deletoin/insertionMissenseExon 7TMDNAPearce1995867563510.1172/JCI118335Journal article
2240c.2240C>TP747Lp.Pro747LeuInactivatingFHH1122284194NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2242c.2242C>TP748Sp.Pro748SerInactivatingFHH1 (heterozygous)122284196rs2074934184SNVMissenseExon 7TMDVUSCetani20091907383010.1530/EJE-08-0798Journal article
2243c.2243C>GP748Rp.Pro748ArgInactivatingFHH1 (heterozygous)122284197rs193922433SNVMissenseExon 7TMDConflicting interpretations of pathogenicityArshad20213289215910.1136/postgradmedj-2020-137718Journal article
2243c.2243C>GP748Rp.Pro748ArgInactivatingFHH1 (heterozygous)122284197rs193922433SNVMissenseExon 7TMDConflicting interpretations of pathogenicityHannan20122242276710.1093/hmg/dds105Journal article
2243c.2243C>TP748Lp.Pro748LeuInactivatingFHH1 (heterozygous)122284197rs193922433SNVMissenseExon 7TMDVUSHannan20122242276710.1093/hmg/dds105Journal article
2243c.2243C>GP748Rp.Pro748ArgInactivatingFHH1122284197rs193922433SNVMissenseExon 7TMDConflicting interpretations of pathogenicityLeach20122279834710.1210/en.2012-1449Journal article
2243c.2243C>AP748Hp.Pro748HisInactivatingFHH1122284197NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2243c.2243C>GP748Rp.Pro748ArgInactivatingFHH1122284197rs193922433SNVMissenseExon 7TMDConflicting interpretations of pathogenicityMouly20193234797110.1111/cen.14211Journal article
2243c.2243C>GP748Rp.Pro748ArgInactivatingFHH1122284197rs193922433SNVMissenseExon 7TMDConflicting interpretations of pathogenicityNissen20193143386510.1111/cen.14078Journal article
2244c.2244delinsCS749fs*p.Ser749fs*NANA122284198rs1553769059Small insertion/deletionFrameshiftExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/snp/rs1553769059/#clinical_significanceClinvar
2254c.2254C>TR752Cp.Arg752CysInactivatingFHH1 (heterozygous)122284208rs193922434SNVMissenseExon 7TMDVUSHannan20122242276710.1093/hmg/dds105Journal article
2254c.2254delR752fs*p.Arg752fs*NANA122284207NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1068041/?oq=%22NM_000388.4(CASR):c.2254del%20(p.Arg752fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2254del%20(p.Arg752fs)#id_secondClinvar
2269c.2269G>AE757Kp.Glu757LysActivatingADH1122284223rs2074935149SNVMissenseExon 7TMDVUSGomes20203251376310.1136/bcr-2020-234391Journal article
2269c.2269G>AE757Kp.Glu757LysActivatingADH1122284223rs2074935149SNVMissenseExon 7TMDVUSKwan20183030678310.1530/EDM-18-0107Journal article
2279c.2279T>AI760Np.Ile760AsnInactivatingFHH1 (heterozygous)122284233NASNVMissenseExon 7TMDNAWu20172869091210.1038/boneres.2017.1Journal article
2281c.2281_2283delATGI761delp.Ile761delInactivatingFHH1122284235NASmall deletionDeletionExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
2282c.2282T>AI761Np.Ile761AsnInactivatingFHH1 (heterozygous)122284236NASNVMissenseExon 7TMDNABhangu20183055444010.1002/hed.25568Journal article
2282c.2282T>AI761Np.Ile761AsnInactivatingFHH1 (heterozygous)122284236NASNVMissenseExon 7TMDNABhangu20223524266510.21037/gs-21-577Journal article
2293c.2293T>CC765Rp.Cys765ArgInactivatingFHH1 (heterozygous)122284247rs1363412937SNVMissenseExon 7TMDVUSDixit20112136968010.2340/00015555-1054Journal article
2295c.2295C>GC765Wp.Cys765TrpInactivatingFHH1 (heterozygous)122284249NASNVMissenseExon 7TMDVUSCetani20091907383010.1530/EJE-08-0798Journal article
2297c.2297_2298dupE767fs*p.Glu767fs*NANA122284249NASmall insertionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1068229/?oq=%22NM_000388.4(CASR):c.2297_2298dup%20(p.Glu767fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2297_2298dup%20(p.Glu767fs)Clinvar
2299c.2299G>AE767Kp.Glu767LysActivatingADH1122284253NASNVMissenseExon 7TMDNAGómez-Martín20233660912710.1016/j.ando.2022.12.001Journal article
2299c.2299G>AE767Kp.Glu767LysActivatingADH1122284253NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2299c.2299G>CE767Kp.Glu767LysActivatingADH1122284253NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2299c.2299G>AE767Kp.Glu767LysActivatingADH1122284253NASNVMissenseExon 7TMDNALeach20122279834710.1210/en.2012-1449Journal article
2299c.2299G>CE767Qp.Glu767GlnActivatingADH1122284253NASNVMissenseExon 7TMDNALetz20102066804010.1210/jc.2010-0651Journal article
2299c.2299G>AE767Kp.Glu767LysActivatingADH1122284253NASNVMissenseExon 7TMDNAUçkun-Kitapçi20051555133210.1002/ajmg.a.30403Journal article
2299c.2299G>CE767Qp.Glu767GlnActivatingADH1122284253NASNVMissenseExon 7TMDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
2303c.2303G>TG768Vp.Gly768ValInactivatingNSHPT (homozygous)122284257rs201858689SNVMissenseExon 7TMDVUSDiaz-Thomas20112485452510.1515/jpem-2013-0343Journal article
2303c.2303G>TG768Vp.Gly768ValInactivatingNSHPT (homozygous)122284257rs201858689SNVMissenseExon 7TMDVUSHannan20122242276710.1093/hmg/dds105Journal article
2318c.2318T>GL773Rp.Leu773ArgActivatingADH1122284272rs104893699SNVMissenseExon 7TMDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
2319c.2319delGL773fs*p.Leu773fs*InactivatingNSHPT (homozygous)122284273NASNVMissenseExon 7TMDNASadacharan20203269979010.4103/ijem.IJEM_53_20Journal article
2320c.2320G>AG774Sp.Gly774SerInactivatingFHH1 (heterozygous)122284274NASNVMissenseExon 7TMDNAQuaglia2012NA10.1093/ndt/gfs201Conference abstract
2320c.2320G>AG774Sp.Gly774SerInactivatingFHH1 (heterozygous)122284274NASNVMissenseExon 7TMDNAStrata20142510408210.1093/ndt/gfu065Journal article
2331c.2331_2332insAGCI777_G778insSp.Ile777_Gly778insSerInactivatingFHH1122284285NASmall inserionInsertionExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2332c.2332G>CG778Rp.Gly778ArgInactivatingFHH1 (heterozygous)122284286rs1479933693SNVMissenseExon 7TMDVUSHannan20122242276710.1093/hmg/dds105Journal article
2332c.2332G>CG778Rp.Gly778ArgInactivatingFHH1122284286rs1479933693SNVMissenseExon 7TMDVUSKhairi 20203276134110.1007/s12672-020-00394-2Journal article
2332c.2332G>CG778Rp.Gly778ArgInactivatingFHH1122284286rs1479933693SNVMissenseExon 7TMDVUSNissen20193143386510.1111/cen.14078Journal article
2333c.2333G>AG778Dp.Gly778AspInactivatingFHH1122284287rs2074936560SNVMissenseExon 7TMDVUSLeach20122279834710.1210/en.2012-1449Journal article
2333c.2333G>AG778Dp.Gly778AspInactivatingFHH1 (heterozygous)122284287rs2074936560SNVMissenseExon 7TMDVUSWard20061664998010.1111/j.1365-2265.2006.02512.xJournal article
2335c.2335T>CY779Hp.Tyr779HisInactivatingFHH1122284289NASNVMissenseExon 7TMDVUSNissen20193143386510.1111/cen.14078Journal article
2351c.2351C>TA784Vp.Ala784ValActivatingADH1122284305NASNVMissenseExon 7TMDNAvan Megan20223531321710.1016/j.ebiom.2022.103947Journal article
2351c.2351C>TA784Vp.Ala784ValActivatingADH1122284305NASNVMissenseExon 7TMDNAWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
2362c.2362T>CF788Lp.Phe788LeuInactivatingFHH1 (heterozygous)122284316rs104893711SNVMissenseExon 7TMDPathogenicHendy20231291565410.1210/jc.2003-030409Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicAbbas2022NA10.1016/j.eprac.2022.03.235Conference abstract
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicElston20223540276510.1210/jendso/bvac042Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicKamiyoshi20152632321610.1007/s10157-015-1160-9Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicKinoshika20132429779910.1210/jc.2013-3430Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicMora20051633382810.1002/ajmg.a.31054Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicRossi20193176334610.1177/2329048X19876199Journal article
2363c.2363T>GF788Cp.Phe788CysActivatingADH1122284317rs104893701SNVMissenseExon 7TMDPathogenicWatanabe1998966163410.1210/jcem.83.7.4920Journal article
2364c.2364delCY789fs*p.Tyr789fs*InactivatingNSHPT (homozygous)122284318NASmall insertionFrameshiftExon 7TMDNAGupta20223538038110.1007/s12098-022-04169-1Journal article
2367c.2367_2369delF789delp.Phe789delInactivatingFHH1 (heterozygous)122284321NASmall deletionDeletionExon 7TMDNAUbetagoyena Arrieta2011NA10.1016/j.anpedi.2010.10.001Journal article
2371c.2371G>CA791Pp.Ala791ProInactivatingFHH1 (heterozygous)122284325NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2383c.2383delCR795Gfs*42p.Arg795Gfs*42InactivatingFHH1 (heterozygous)122284337NASmall deletionFrameshiftExon 7TMDNAChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
2383c.2383delCR795Gfs*42p.Arg795Gfs*42InactivatingFHH1 (heterozygous)122284337NASmall deletionFrameshiftExon 7TMDNAChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1 (heterozygous)122284337rs121909258SNVMissenseExon 7TMDPathogenic/Likely pathogenicD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1122284337rs121909258SNVMissenseExon 7TMDPathogenic/Likely pathogenicGrant20122307734510.1210/me.2012-1232Journal article
2383c.2383delCR795Gfs*42p.Arg795Gfs*42InactivatingFHH1 (heterozygous)122284337NASmall deletionFrameshiftExon 7TMDNAGuarnieri20102016428810.1210/jc.2008-2430Journal article
2383c.2383delCR795Gfs*42p.Arg795Gfs*42InactivatingFHH1 (heterozygous)122284337NASmall deletionFrameshiftExon 7TMDNAJakobsen20132376437210.1530/EJE-13-0224Journal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1 (heterozygous)122284337rs121909258SNVMissenseExon 7TMDPathogenic/Likely pathogenicKonijnenberg2012NA10.1007/s00467-012-2232-7Journal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1 (heterozygous)122284337NASNVMissenseExon 7TMDPathogenic/Likely pathogenicMariathasan20203243090510.1111/cen.14254Journal article
2383c.2383delCR795Gfs*42p.Arg795Gfs*42InactivatingFHH1 (heterozygous)122284337NASmall deletionFrameshiftExon 7TMDNANissen20071769891110.1210/jc.2007-0322Journal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1 (heterozygous)122284337rs121909258SNVMissenseExon 7TMDPathogenic/Likely pathogenicPollak1993791666010.1016/0092-8674(93)90617-yJournal article
2383c.2383C>TR795Wp.Arg795TrpInactivatingFHH1122284337rs121909258SNVMissenseExon 7TMDPathogenic/Likely pathogenicCole20091917945410.1677/JME-08-0164Journal article
2384c.2384G>AR795Qp.Arg795GlnInactivatingFHH1122284338NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2384c.2384G>CR795Pp.Arg795ProInactivatingFHH1122284338NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2386c.2386A>TK796*p.Lys796*InactivatingFHH1122284340NASNVNonsenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2386c.2386A>TK796*p.Lys796*InactivatingFHH1122284340NASNVNonsenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2392c.2392C>AP798Tp.Pro798ThrInactivatingFHH1122284346NASNVMissenseExon 7TMDNAGrant20122307734510.1210/me.2012-1232Journal article
2392c.2392C>AP798Tp.Pro798ThrInactivatingFHH1 (heterozygous)122284346NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2392c.2392C>AP798Tp.Pro798ThrInactivatingFHH1 (heterozygous)122284346NASNVMissenseExon 7TMDNALam20051596348410.1016/j.cccn.2005.04.026Journal article
2393c.2393C>TP798Lp.Pro798LeuInactivatingFHH1 (heterozygous)122284347rs1060502856SNVMissenseExon 7TMDPathogenic/Likely pathogenicHannan20122242276710.1093/hmg/dds105Journal article
2393c.2393C>TP798Lp.Pro798LeuInactivatingFHH1 (heterozygous)122284347rs1060502856SNVMissenseExon 7TMDPathogenic/Likely pathogenicUdelsman2015NA10.1002/jbmr.2763Journal article
2395c.2395G>AE799Lp.Glu799LeuActivatingADH1122284349NASNVMissenseExon 7TMDNALienhardt20011170169810.1210/jcem.86.11.8016Journal article
2399c.2399A>CN800Tp.Asn800ThrActivatingADH1122284353NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2401c.2401T>CF801Lp.Phe801LeuInactivatingFHH1122284355NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2401c.2401T>CF801Lp.Phe801LeuInactivatingFHH1122284355NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2404c.2404A>CN802Hp.Asn802HisNANA122284358NASNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1338619/?oq=%22NM_000388.4(CASR):c.2404A%3EC%20(p.Asn802His)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2404A%3EC%20(p.Asn802His)Clinvar
2405c.2405A>GN802Sp.Asn802SerInactivatingFHH1 (heterozygous)122284359rs140022350SNVMissenseExon 7TMDPathogenic/Likely pathogenicLia-Baldini20132316969610.1530/EJE-12-0714Journal article
2405c.2405A>TN802Ip.Asn802IleActivatingADH1122284359NASNVMissenseExon 7TMDNALia-Baldini20132316969610.1530/EJE-12-0714Journal article
2405c.2405A>TN802Ip.Asn802IleActivatingADH1122284359NASNVMissenseExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
2405c.2405A>TN802Ip.Asn802IleActivatingADH1122284359NASNVMissenseExon 7TMDNAWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
2410c.2410G>AA804Tp.Ala804ThrInactivatingFHH1122284364rs777219967SNVMissenseExon 7TMDVUSNissen20193143386510.1111/cen.14078Journal article
2411c.2411C>AA804Dp.Ala804AspInactivatingFHH1122284365NASNVMissenseExon 7TMDNAGrant20122307734510.1210/me.2012-1232Journal article
2411c.2411C>AA804Dp.Ala804AspInactivatingFHH1122284365NASNVMissenseExon 7TMDNALeach20122279834710.1210/en.2012-1449Journal article
2411c.2411C>AA804Dp.Ala804AspInactivatingFHH1 (heterozygous)122284365NASNVMissenseExon 7TMDNAMiyashiro20041557919610.1111/j.1365-2265.2004.02163.xJournal article
2414c.2414A>GK805Rp.Lys805ArgInactivatingFHH1 (heterozygous)122284368NASNVMissenseExon 7TMDNAMariathasan20203243090510.1111/cen.14254Journal article
2414c.2414A>GK805Rp.Lys805ArgInactivatingFHH1 (heterozygous)122284368NASNVMissenseExon 7TMDNASagi20203343417310.1530/EDM-20-0084Journal article
2415c.2415delK805fs*p.Lys805fs*NANA122284369NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1066835/?oq=%22NM_000388.4(CASR):c.2415del%20(p.Lys805fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2415del%20(p.Lys805fs)#id_secondClinvar
2417c.2417T>CF806Sp.Phe806SerActivatingADH1122284371rs104893693SNVMissenseExon 7TMDPathogenicTheman20091906368610.1359/JBMR.081233Journal article
2417c.2417T>CF806Sp.Phe806SerActivatingADH1122284371rs104893693SNVMissenseExon 7TMDPathogenicBaron1996873312610.1093/hmg/5.5.601Journal article
2417c.2417T>CF806Sp.Phe806SerActivatingADH1122284371rs104893693SNVMissenseExon 7TMDPathogenicWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
2420c.2420T>AI807Np.Ile807AsnInactivatingFHH1122284374NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2422c.2422A>CT808Pp.Thr808ProInactivatingFHH1 (heterozygous)122284376NASNVMissenseExon 7TMDNAMullin20223535600710.1210/jendso/bvac025Journal article
2423c.2393C>TP798Lp.Pro798LeuInactivatingFHH1 (heterozygous)122284347NASNVMissenseExon 7TMDPathogenic/Likely pathogenicMariathasan20203243090510.1111/cen.14254Journal article
2425c.2425T>AF809Lp.Phe809LeuInactivatingFHH1122284379rs2074938402SNVMissenseExon 7TMDVUSLu20091975931810.1124/jpet.109.159228Journal article
2425c.2425T>CF809Lp.Phe809LeuInactivatingFHH1122284379rs2074938402SNVMissenseExon 7TMDVUSMouly20193234797110.1111/cen.14211Journal article
2425c.2425T>AF809Lp.Phe809LeuInactivatingFHH1 (heterozygous)122284379rs2074938402SNVMissenseExon 7TMDVUSTimmers20061688228310.1111/j.1365-2796.2006.01684.xJournal article
2425c.2425T>AF809Ip.Phe809IleInactivatingFHH1122284379rs2074938402SNVMissenseExon 7TMDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2427c.2427C>GF809Lp.Phe809LeuInactivatingFHH1122284381rs2074938402SNVMissenseExon 7TMDVUSMouly20193234797110.1111/cen.14211Journal article
2429c.2429G>AS810Np.Ser810AsnActivatingADH1122284383rs2074938472SNVMissenseExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/978027/?oq=%22NM_000388.4(CASR):c.2429G%3EA%20(p.Ser810Asn)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2429G%3EA%20(p.Ser810Asn)#id_secondClinvar
2431c.2431A>GM811Vp.Met811ValActivatingADH1122284385rs1057521129SNVMissenseExon 7TMDLikely pathogenicSchouten20112144139110.1258/acb.2010.010139Journal article
2435c.2435T>GL812Rp.Leu812ArgInactivatingFHH1122284389NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2435c.2435T>CL812Pp.Leu812ProInactivatingFHH1122284389rs193922435SNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35791/?oq=%22NM_000388.4(CASR):c.2435T%3EC%20(p.Leu812Pro)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2435T%3EC%20(p.Leu812Pro)#id_secondClinvar
2443c.2443_2445delTTCF815delp.Phe815delActivatingADH1122284397NASmall deletionDeletionExon 7TMDNAGagliardi20162717781910.1111/cen.13104Journal article
2446c.2446A>GI816Vp.Ile816ValInactivatingFHH1 (heterozygous)122284400NASNVMissenseExon 7TMDVUSGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2446c.2446A>GI816Vp.Ile816ValInactivatingFHH1 (heterozygous)122284400NASNVMissenseExon 7TMDVUSJones20203253754810.1002/jbm4.10362Journal article
2446c.2446A>GI816Vp.Ile816ValInactivatingFHH1 (heterozygous)122284400NASNVMissenseExon 7TMDVUSMogas20182989999210.1530/EDM-18-0009Journal article
2447c.2447T>CI816Tp.Ile816ThrInactivatingFHH1 (heterozygous)122284401NASNVMissenseExon 7TMDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2447c.2447T>CI816Tp.Ile816ThrInactivatingFHH1 (heterozygous)122284401NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2449c.2449G>AV817Ip.Val817IleInactivatingFHH1122284403rs1057518933SNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2449c.2449G>AV817Ip.Val817IleInactivatingFHH1 (heterozygous)122284403rs1057518933SNVMissenseExon 7TMDLikely pathogenicPearce1995867563510.1172/JCI118335Journal article
2453c.2453G>TW818Lp.Trp818LeuActivatingADH1122284407NASNVMissenseExon 7TMDNASchouten20112144139110.1258/acb.2010.010139Journal article
2454c.2454G>AW828*p.Trp828*NANA122284408rs1576878011SNVNonsenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/804665/?oq=%22NM_000388.4(CASR):c.2454G%3EA%20(p.Trp818Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2454G%3EA%20(p.Trp818Ter)#id_secondClinvar
2458c.2458T>GS820Ap.Ser820AlaInactivatingFHH1 (heterozygous)122284412rs2074939020SNVMissenseExon 7TMDVUSGorvin20182946377810.1126/scisignal.aan3714Journal article
2458c.2458T>GS820Ap.Ser820AlaInactivatingFHH1122284412rs2074939020SNVMissenseExon 7TMDVUSGorvin20183005293310.1093/hmg/ddy263Journal article
2459c.2459C>TS820Fp.Ser820PheActivatingADH1122284413rs104893710SNVMissenseExon 7TMDPathogenicBelli2019NA10.1159/000501868Conference abstract
2459c.2459C>TS820Fp.Ser820PheActivatingADH1122284413rs104893710SNVMissenseExon 7TMDPathogenicGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2459c.2459C>T S820Fp.Ser820PheActivatingADH1122284413rs104893710SNVMissenseExon 7TMDPathogenicGorvin20182946377810.1126/scisignal.aan3714Journal article
2459c.2459C>A S820Yp.Ser820TyrActivatingADH1122284413NASNVMissenseExon 7TMDNAHawkes20203311226710.1530/EJE-20-0710Journal article
2459c.2459C>T S820Fp.Ser820PheActivatingADH1122284413rs104893710SNVMissenseExon 7TMDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
2459c.2459C>T S820Fp.Ser820PheActivatingADH1122284413rs104893710SNVMissenseExon 7TMDPathogenicNagase20021205023310.1210/jcem.87.6.8531Journal article
2461c.2461T>CF821Lp.Phe821LeuActivatingADH1122284415NASNVMissenseExon 7TMDNAGevers2017NAGevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).Conference abstract
2461c.2461T>CF821Lp.Phe821LeuActivatingADH1122284415NASNVMissenseExon 7TMDNALeach20122279834710.1210/en.2012-1449Journal article
2461c.2461T>CF821Lp.Phe821LeuActivatingADH1122284415NASNVMissenseExon 7TMDNASastre20213423310110.1056/NEJMc2034981Journal article
2461c.2461T>CF821Lp.Phe821LeuActivatingADH1122284415NASNVMissenseExon 7TMDNAShiohara20041467706010.1007/s00431-003-1331-7Journal article
2461c.2461T>CF821Lp.Phe821LeuActivatingADH1122284415NASNVMissenseExon 7TMDNAShiohara20061698317810.1507/endocrj.k06-053Journal article
2467c.2467C>TP823Sp.Pro823SerInactivatingFHH1122284421rs1576878027SNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2470c.2470G>CA824Pp.Ala824ProActivatingADH1122284424NASNVMissenseExon 7TMDNAChapman2010NA10.1159/000321348Conference abstract
2470c.2470G>TA824Sp.Ala824SerActivatingADH1122284424NASNVMissenseExon 7TMDNAChapman2010NA10.1159/000321348Conference abstract
2470c.2470G>CA824Pp.Ala824ProActivatingADH1122284424NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2474c.2474A>TY825Fp.Tyr825PheActivatingADH1122284428NASNVMissenseExon 7TMDNAMoon20182996988410.6065/apem.2018.23.2.107Journal article
2479c.2479A>GS827Gp.Ser827GlyInactivatingFHH1122284433NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2479c.2479A>CS827Rp.Ser827ArgInactivatingFHH1 (heterozygous)122284433NASNVMissenseExon 7TMDNASzalat20172817628010.1007/s12020-017-1241-5Journal article
2479c.2479A>CS827Rp.Ser827ArgInactivatingFHH1122284433NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2482c.2482A>CT828Pp.Thr828ProInactivatingFHH1122284436rs794729230SNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/202205/?oq=%22NM_000388.4(CASR):c.2482A%3EC%20(p.Thr828Pro)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2482A%3EC%20(p.Thr828Pro)#id_firstClinvar
2483c.2483C>AT828Dp.Thr828AspActivatingADH1122284437NASNVMissenseExon 7TMDNAGevers2017NAGevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).Conference abstract
2483c.2483C>AT828Dp.Thr828AspActivatingADH1122284437NASNVMissenseExon 7TMDNAGiner2013NA10.1055/s-0033-1337875Journal article
2483c.2483C>AT828Dp.Thr828AspActivatingADH1122284437NASNVMissenseExon 7TMDNAGorvin20182946377810.1126/scisignal.aan3714Journal article
2483c.2483C>TT828Ip.Thr828IleInactivatingFHH1 (heterozygous)122284437NASNVMissenseExon 7TMDNAGorvin20182946377810.1126/scisignal.aan3714Journal article
2483c.2483C>AT828Np.Thr828AsnActivatingADH1122284437NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2483c.2483C>AT828Np.Thr828AsnActivatingADH1122284437NASNVMissenseExon 7TMDNASastre20213423310110.1056/NEJMc2034981Journal article
2483c.2483C>AT828Np.Thr828AsnActivatingADH1122284437NASNVMissenseExon 7TMDNAGorvin20183005293310.1093/hmg/ddy263Journal article
2483c.2483C>TT828Ip.Thr828IleInactivatingFHH1122284437NASNVMissenseExon 7TMDNAGorvin20183005293310.1093/hmg/ddy263Journal article
2486c.2486A>GY829Cp.Tyr829CysActivatingADH1122284440NASNVMissenseExon 7TMDNAChoi20152593203710.3345/kjp.2015.58.4.148Journal article
2486c.2486A>GY829Cp.Tyr829CysActivatingADH1 with Bartter syndrome (heterozygous)122284440NASNVMissenseExon 7TMDNAChoi20152593203710.3345/kjp.2015.58.4.148Journal article
2486c.2486A>GY829Cp.Tyr829CysActivatingADH1122284440NASNVMissenseExon 7TMDNAGevers2017NAGevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).Conference abstract
2486c.2486A>GY829Cp.Tyr829CysActivatingADH1122284440NASNVMissenseExon 7TMDNASastre20213423310110.1056/NEJMc2034981Journal article
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNAHarari-Shaham2019NA10.1038/s41431-018-0248-6Conference abstract
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNALetz20102066804010.1210/jc.2010-0651Journal article
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNAMcDonald2019NA10.1007/s11845-019-02073-wConference abstract
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
2488c.2488G>AG830Sp.Gly830SerActivatingADH1122284442NASNVMissenseExon 7TMDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
2489c.2489G>AG830Dp.Gly830AspInactivatingFHH1122284443rs193922436SNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35792/?oq=%22NM_000388.4(CASR):c.2489G%3EA%20(p.Gly830Asp)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2489G%3EA%20(p.Gly830Asp)#id_secondClinvar
2492c.2492A>CK831Tp.Lys831ThrActivatingADH1122284446NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2494c.2494T>CF832Lp.Phe832LeuActivatingADH1122284448NASNVMissenseExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSHannan20122242276710.1093/hmg/dds105Journal article
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSHawkes20203311226710.1530/EJE-20-0710Journal article
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSLeach20122279834710.1210/en.2012-1449Journal article
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSSong2020NA10.3760/cma.j.cn112140-20200317- 00258Conference abstract
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSCole20091917945410.1677/JME-08-0164Journal article
2495c.2495T>CF832Sp.Phe832SerActivatingADH1122284449NASNVMissenseExon 7TMDVUSWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
2501c.2501delCS834fs*p.Ser834fs*InactivatingFHH1 (heterozygous)122284455NASmall deletionFrameshiftExon 7TMDNAMa200818525093https://www.hkmj.org/abstracts/v14n3/226.htmJournal article
2503c.2503G>AA835Tp.Ala835ThrActivatingADH1122284457rs2074939751SNVMissenseExon 7TMDVUSD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
2504c.2504C>AA835Dp.Ala835AspActivatingADH1122284458NASNVMissenseExon 7TMDNALetz20142550694110.1371/journal.pone.0115178Journal article
2506c.2506G>AV836Ip.Val836IleActivatingADH1122284460NASNVMissenseExon 7TMDNAEugenin2016NA10.1210/endo-meetings.2016.BCHVD.10.SUN-388Conference abstract
2506c.2506G>CV836Lp.Val836LeuActivatingADH1122284460NASNVMissenseExon 7TMDLikely pathogenicLeach20122279834710.1210/en.2012-1449Journal article
2511c.2511G>CE837Dp.Glu837AspActivatingADH1122284465NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2516c.2516T>CI839Tp.Ile839ThrActivatingADH1122284470NASNVMissenseExon 7TMDLikely pathogenicNakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
2516c.2516T>CI839Tp.Ile839ThrActivatingADH1122284470NASNVMissenseExon 7TMDLikely pathogenicNakamura20132396624110.1210/jc.2013-1974Journal article
2516c.2516T>AI839Np.Ile839AsnActivatingADH1122284470NASNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1698776/?oq=%22NM_000388.4(CASR):c.2516T%3EA%20(p.Ile839Asn)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2516T%3EA%20(p.Ile839Asn)#id_secondClinvar
2519c.2519C>TA840Vp.Ala840ValActivatingADH1122284473rs1553769127SNVMissenseExon 7TMDVUSRoberts20193106361310.1002/jbmr.3747Journal article
2519c.2519C>TA840Vp.Ala840ValActivatingADH1122284473rs1553769127SNVMissenseExon 7TMDVUSShulman20223535039410.1210/jendso/bvac031Journal article
2519c.2519C>TA840Vp.Ala840ValActivatingADH1122284473rs1553769127SNVMissenseExon 7TMDVUSWiner20183047038210.1016/j.jpeds.2018.08.010Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicFox20162754024910.1136/archdischild-2016-311535.66Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicGevers2017NAGevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).Conference abstract
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicKinoshika20132429779910.1210/jc.2013-3430Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicKumaran2009NA10.1016/j.bone.2009.04.137Conference abstract
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicLeach20122279834710.1210/en.2012-1449Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicLetz20142550694110.1371/journal.pone.0115178Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicNakamura2013NAHormone Research in Paediatrics 2013 Vol. 80 Pages 52-53Conference abstract
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicOprea2022NA10.1159/000525606Conference abstract
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicSanda20081855697110.1515/jpem.2008.21.4.385Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicSastre20213423310110.1056/NEJMc2034981Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicSato20021210720210.1210/jcem.87.7.8639Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicVallant20223531700610.1097/TXD.0000000000001284Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1 with Bartter syndrome122284482rs104893706SNVMissenseExon 7TMDPathogenicWatanabe20021224187910.1016/S0140-6736(02)09842-2Journal article
2528c.2528C>AA843Ep.Ala843GluActivatingADH1122284482rs104893706SNVMissenseExon 7TMDPathogenicZhao19991021743610.1016/s0014-5793(99)00368-3Journal article
2530c.2530G>AA844Tp.Ala844ThrActivatingADH1122284484NASNVMissenseExon 7TMDNALetz20102066804010.1210/jc.2010-0651Journal article
2530c.2530G>CA844Pp.Ala844ProActivatingADH1122284484NASNVMissenseExon 7TMDNANakajima20091991529510.2169/internalmedicine.48.2459Journal article
2530c.2530G>AA844Tp.Ala844ThrActivatingADH1122284484NASNVMissenseExon 7TMDNARaue20112164502510.1111/j.1365-2265.2011.04142.xJournal article
2531c.2531C>TA844Vp.Ala844ValActivatingADH1122284485rs2074940195SNVMissenseExon 7TMDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/985582/?oq=%22NM_000388.4(CASR):c.2531C%3ET%20(p.Ala844Val)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2531C%3ET%20(p.Ala844Val)Clinvar
2532c.2532_2539delCAGCTTTS845fs*133p.Ser845fs*133InactivatingFHH1 (heterozygous)122284486NASmall deletionFrameshiftExon 7TMDNABulus2022NA10.1159/000525606Conference abstract
2533c.2533_2545delS845fs*p.Ser845fs*NANA122284486NASmall deletionFrameshiftExon 7TMDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1408979/?oq=%22NM_000388.4(CASR):c.2533_2545del%20(p.Ser845fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2533_2545del%20(p.Ser845fs)#id_secondClinvar
2534c.2534G>AS845Np.Ser845AsnActivatingADH1122284488NASNVMissenseExon 7TMDNAHannan20122242276710.1093/hmg/dds105Journal article
2546c.2546T>CL849Pp.Leu849ProInactivatingFHH1 (heterozygous)122284500rs2074940343SNVMissenseExon 7TMDVUSFrank-Raue20112152132810.1111/j.1365-2265.2011.04059.xJournal article
2546c.2546T>CL849Pp.Leu849ProInactivatingFHH1122284500rs2074940343SNVMissenseExon 7TMDVUSRus20081879651810.1210/jc.2008-1076Journal article
2550c.2550_2551insCCAGC850fs*132p.Cys850fs*132InactivatingFHH1 (heterozygous)122284504NASmall insertionFrameshiftExon 7TMDNAD’'Souza-Li20021188920310.1210/jcem.87.3.8280Journal article
2550c.2550_2551insCCAGC850fs*132p.Cys850fs*132InactivatingFHH1122284504NASmall insertionFrameshiftExon 7TMDNACole20091917945410.1677/JME-08-0164Journal article
2570c.2570T>GI857Sp.Ile857SerActivatingADH1 with Bartter syndrome (heterozygous)122284524NASNVMissenseExon 7TMDNAChou20223519283710.1016/j.yexcr.2022.113080Journal article
2579c.2579T>GI860Sp.Ile860SerInactivatingFHH1122284533NASNVMissenseExon 7TMDNAMouly20193234797110.1111/cen.14211Journal article
2579c.2579T>GI860Sp.Ile860SerInactivatingFHH1122284533NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2582c.2582T>CL861Pp.Leu861ProInactivatingFHH1122284536NASNVMissenseExon 7TMDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2600c.2600A>TN867Ip.Asn867IleInactivatingFHH1122284554NASNVMissenseExon 7ICDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2608c.2608G>TE870*p.Glu870*InactivatingFHH1122284562NASNVNonsenseExon 7ICDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2611c.2611G>TE871*p.Glu871*NANA122284565rs1057520646SNVNonsenseExon 7ICDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/379567/?oq=%22NM_000388.4(CASR):c.2611G%3ET%20(p.Glu871Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2611G%3ET%20(p.Glu871Ter)#id_firstClinvar
2618c.2618G>AR873Hp.Arg873HisInactivatingFHH1122284572NASNVMissenseExon 7ICDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2618c.2618G>CR873Pp.Arg873ProInactivatingFHH1122284572NASNVMissenseExon 7ICDVUSVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
2627c.2627C>AT876Np.Thr876AsnInactivatingFHH1122284581NASNVMissenseExon 7ICDNANissen20193143386510.1111/cen.14078Journal article
2641c.2641T>CF881Lp.Phe881LeuInactivatingFHH1 (heterozygous)122284595rs104893704SNVMissenseExon 7ICDLikely pathogenicCarling20001084319410.1210/jcem.85.5.6477Journal article
2641c.2641T>CF881Lp.Phe881LeuInactivatingFHH1122284595rs104893704SNVMissenseExon 7ICDLikely pathogenicLu20091975931810.1124/jpet.109.159228Journal article
2644c.2644A>TK882*p.Lys882*InactivatingFHH1122284598rs193922437SNVNonsenseExon 7ICDLikely pathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/35793/?oq=%22NM_000388.4(CASR):c.2644A%3ET%20(p.Lys882Ter)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2644A%3ET%20(p.Lys882Ter)Clinvar
2647c.2647G>AV883Mp.Val883MetActivatingADH1122284601NASNVMissenseExon 7ICDNAHannan20122242276710.1093/hmg/dds105Journal article
2654c.2654C>AA885Dp.Ala885AspInactivatingFHH1 (heterozygous)122284608NASNVMissenseExon 7ICDNAHannan20122242276710.1093/hmg/dds105Journal article
2656c.2656C>TR886Pp.Arg886ProInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicChristensen20081841055410.1111/j.1365-2265.2008.03259.xJournal article
2656c.2656C>TR886Pp.Arg886ProInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicChristensen20091925027110.1111/j.1365-2265.2009.03557.xJournal article
2656c.2656C>TR886Wp.Arg886TrpInactivatingNSHPT (homozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicHannan20122242276710.1093/hmg/dds105Journal article
2656c.2656C>TR886Wp.Arg886TrpInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicJakobsen20132376437210.1530/EJE-13-0224Journal article
2656c.2656C>TR886Wp.Arg886TrpInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicNissen20071769891110.1210/jc.2007-0322Journal article
2656c.2656C>TR886Pp.Arg886ProInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicReschke2013NAReschke F, Lohse J, Huebner A. A novel cytoplasmatic mutation of the calcium-sensing receptor (CASR) in a newborn resulting in familial hypocalciuric hypercalcaemia (FHH). Hormone Research in Paediatrics. 2013;80:223-4.Conference abstract
2656c.2656C>TR886Pp.Arg886ProInactivatingFHH1 (heterozygous)122284610rs1559969429SNVMissenseExon 7ICDPathogenicSimonds20021180740210.1097/00005792-200201000-00001Journal article
2657c.2657G>CR886Pp.Arg886ProInactivatingFHH1 (heterozygous)122284611rs1057520791SNVMissenseExon 7ICDPathogenicBaral2017NABaral S, Mamillapalli CK, Aziz SW, Jakoby MG. Calcium-sensing receptor mutation positive hypercalcemia with clinical features of primary hyperparathyroidism. Endocrine Reviews. 2017;38(3).Conference abstract
2659c.2659G>CA887Pp.Ala887ProInactivatingFHH1 (heterozygous)122284613NASNVMissenseExon 7ICDNAMariathasan20203243090510.1111/cen.14254Journal article
2660c.2660C>AA887Dp.Ala887AspInactivatingFHH1 (heterozygous)122284614NASNVMissenseExon 7ICDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2663c.2663C>TT888Mp.Thr888MetActivatingADH1122284617NASNVMissenseExon 7ICDNALazarus 20112113506510.1530/EJE-10-0907Journal article
2682c.2682delCS895Pfs*44p.Ser895Profs*44ActivatingADH1122284636NASmall deletionFrameshiftExon 7ICDNACisternino2013NACisternino M, Andrea Bassi L, Rossetti G, Bulzomí P, Codazzi AC, Magrassi S, et al. A novel de novo activating mutation of calcium-sensing receptor (CaSR) in a patient with hypocalcemia and long QT syndrome (LQTS). Hormone Research in Paediatrics. 2013;80:225.Conference abstract
2682c.2682_3224delS895_V1075delp.Ser895_V1075delActivatingADH1122284636rs1553769169CNVDeletionExon 7ICDPathogenicLienhardt20001077021710.1210/jcem.85.4.6570Journal article
2682c.2682_3224delS895_V1075delp.Ser895_V1075delActivatingADH1122284636rs1553769169CNVDeletionExon 7ICDPathogenicLienhardt20011170169810.1210/jcem.86.11.8016Journal article
2682c.2682delCS895Pfs*44p.Ser895Profs*44ActivatingADH1122284636NASmall deletionFrameshiftExon 7ICDNAMaruca20172756120410.1016/j.mce.2016.08.032Journal article
2703c.2703_2710delCCTTGGAGS901fs*77p.Gln901fs*77ActivatingADH1122284657NASmall deletionFrameshiftExon 7ICDNAObermannova20162676441810.1530/EJE-15-1216Journal article
2730c.2730delCP910fs*29p.Pro910fs*29ActivatingADH1122284684NASmall deletionFrameshiftExon 7ICDNAHannan20122242276710.1093/hmg/dds105Journal article
2776c.2776C>TQ926*p.Gln926*InactivatingFHH1122284730NASNVMissenseExon 7ICDVUSNissen20193143386510.1111/cen.14078Journal article
2777c.2777A>GQ926Rp.Gln926ArgInactivatingFHH1 (heterozygous)122284731rs200263975SNVMissenseExon 7ICDConflicting interpretations of pathogenicityFrank-Raue20112152132810.1111/j.1365-2265.2011.04059.xJournal article
2777c.2777A>GQ926Rp.Gln926ArgInactivatingFHH1122284731rs200263975SNVMissenseExon 7ICDConflicting interpretations of pathogenicityRus20081879651810.1210/jc.2008-1076Journal article
2800c.2800C>TQ934*p.Gln934*ActivatingADH1122284754NASNVNonsenseExon 7ICDNAGarcía-Castaño20183040791910.1530/EJE-18-0129Journal article
2901c.2901delCL968fs*10p.Leu968fs*10ActivatingADH1122284855NASNVFrameshiftExon 7ICDNANissen20122219286010.1016/j.cca.2011.12.004Journal article
2901c.2901delF968fs*p.Phe968fs*NANA122284855NASmall deletionFrameshiftExon 7ICDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/1697473/?oq=%22NM_000388.4(CASR):c.2901del%20(p.Phe968fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.2901del%20(p.Phe968fs)#id_secondClinvar
2915c.2915C>TT972Mp.Thr972MetInactivatingFHH1 (heterozygous)122284869rs200620134SNVMissenseExon 7ICDConflicting interpretations of pathogenicityMastromatteo20142529218410.1186/1472-6823-14-81Journal article
3010c.3010delS1014fs*p.Ser1014fs*NANA122284964rs1131691620Small deletionFrameshiftExon 7ICDPathogenicClinvarNANAhttps://www.ncbi.nlm.nih.gov/clinvar/variation/429831/?oq=%22NM_000388.4(CASR):c.3010del%20(p.Ser1004fs)%22%5Bvarname%5D&m=NM_000388.4(CASR):c.3010del%20(p.Ser1004fs)#id_secondClinvar
3013c.3013G>AD1005Np.Asp1005AsnInactivatingFHH1 (heterozygous)122284967rs201990892SNVMissenseExon 7ICDVUSFrank-Raue20112152132810.1111/j.1365-2265.2011.04059.xJournal article
3013c.3013G>AD1005Np.Asp1005AsnInactivatingFHH1122284967rs201990892SNVMissenseExon 7ICDVUSRus20081879651810.1210/jc.2008-1076Journal article
3104c.3104delCP1025Lfs*21p.Pro1025Leufs*21InactivatingFHH1122285058NASmall deletionFrameshiftExon 7ICDNAVargas-Poussou20162696395010.1210/jc.2015-3442Journal article
3163c.3163_3170delinsTTACTGGGGAV1045fs*p.Val1045fs*InactivatingFHH1 (heterozygous)122285117NASNVFrameshiftExon 7ICDNAMijares Zamuner20132278915210.1016/j.endonu.2012.04.006Journal article
3193c.3193delAS1065Vfs*p.Ser1065Vfs*InactivatingFHH1 (heterozygous)122285147NASmall deletionFrameshiftExon 7ICDNAYabuta20091942346010.1016/S1015-9584(09)60022-1Journal article
3235c.3235T>C*1079Qext*8p.1079Glnext8InactivatingFHH1 (heterozygous)122285189NASNVLoss of stop codonExon 7ICDNAGuarnieri20102016428810.1210/jc.2008-2430Journal article
3235c.3235T>C*1079Qext*8p.1079Glnext8InactivatingFHH1 (heterozygous)122285189NASNVLoss of stop codonExon 7ICDNATellam20203269816210.1530/EDM-20-0004Journal article
NANAV268fs*6p.Val268fs*6InactivatingFHH1 (heterozygous)NANASmall deletionFrameshiftExon 3ECDNASimonds20021180740210.1097/00005792-200201000-00001Journal article
NANAT876insAlufs-1X911p.Thr876insAlufs-1X911InactivatingFHH1 (heterozygous)NANASmall insertionFrameshiftExon 7ICDNAJanicic19957717399NAJournal article
NANAT876insAlufs-1X911p.Thr876insAlufs-1X911InactivatingNSHPT (homozygous)NANASmall insertionFrameshiftExon 7ICDNAJanicic19957717399NAJournal article

Note: Amino acid positions in the database are referenced according to the P41180-1 isoform, which consists of 1,078 amino acids. Genomic coordinates in the database are referenced according to the GRCh38 genome assembly.

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Summary Statistics

We identified a total of 498 variants, of which 121 (24.3%) were associated with ADH1 and 377 (75.7%) with FHH1. Most variants included in our database were identified from the literature (117 activating and 352 inactivating variants), and the majority of these were not documented in ClinVar/LOVD (73/117, 62.4% activating variants; 207/352, 58.8% inactivating variants). A total of 44 activating and 145 inactivating variants were identified from both the literature and ClinVar/LOVD. Only 25 inactivating and 4 activating variants were reported as P/LP in ClinVar/LOVD but not found in the literature. Furthermore, 52 P/LP variants were noted only in ClinVar/LOVD without an associated phenotype.

Activating variants: Exon 2: 4; Exon 3: 31; Exon 4: 17; Exon 5: 1; Exon 6: 3; Exon 7: 62
Inactivating variants: Exon 2: 32; Exon 3: 49; Exon 4: 92; Exon 5: 17; Exon 6: 28; Exon 7: 149

Activating variants: SP: 0; LB1: 41; LB2: 12; CRD: 4; TMDs: 51; ICD: 9
Inactivating variants: SP: 8; LB1: 121; LB2: 46; CRD: 34; TMDs: 108; ICD: 22

Abbreviations: SP: Signal Peptide (Met1 – Ala19) ; LB1: Lobe 1 (Tyr20 – Asn189 and Lys323 – Gly487); LB2: Lobe 2 (Asp190 – Leu322 and Asn488 – Asn541); CRD: Cysteine-rich Domain (Cys542 – Ile599); TMDs: Transmembrane Domains (Ala600 – Ile859); ICD: Intracellular Domain (Ile860 – Ser1078)

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