https://casrdb.mgh.harvard.edu/

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 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, Gα_i 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

cDNA Position	Variant	Amino acid change (CaSR 1078 aa)	Variant effect (activating/inactivating)	Clinical phenotype	Genomic co-ordinate	rs number	Variant type	Effect type	Location (gene)	Location (protein)	Pathogenicity reported in ClinVar	Article first author	Year	PMID	DOI/link	Article type
1	c.1A>G	M1V	Inactivating	FHH1	122254190	NA	SNV	Missense	Exon 2	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2	c.2T>G	M1R	Inactivating	FHH1 (heterozygous)	122254191	NA	SNV	Missense	Exon 2	ECD	NA	de Andrade	2006	17121537	10.1111/j.1365-2265.2006.02640.x	Journal article
2	c.2T>G	M1R	Inactivating	NSHPT (homozygous)	122254191	NA	SNV	Missense	Exon 2	ECD	NA	de Andrade	2006	17121537	10.1111/j.1365-2265.2006.02640.x	Journal article
19	c.19_20insT	C7fs*41	Inactivating	FHH1 (heterozygous)	122254208	NA	Small insertion	Frameshift	Exon 2	ECD	NA	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
19	c.19_20insT	C7fs*41	Inactivating	FHH1	122254208	NA	Small insertion	Frameshift	Exon 2	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
23	c.23G>A	W8*	Inactivating	FHH1	122254212	NA	SNV	Nonsense	Exon 2	ECD	Likely pathogenic	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
32	c.32T>C	L11S	Inactivating	FHH1	122254221	rs200673016	SNV	Missense	Exon 2	ECD	VUS	Pidasheva	2005	15879434	10.1093/hmg/ddi176	Journal article
38	c.38T>C	L13P	Inactivating	FHH1	122254227	rs104893717	SNV	Missense	Exon 2	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
38	c.38T>C	L13P	Inactivating	FHH1	122254227	rs104893717	SNV	Missense	Exon 2	ECD	Pathogenic	Miyashiro	2004	15579740	10.1210/jc.2004-1046	Journal article
38	c.38T>C	L13P	Inactivating	FHH1	122254227	rs104893717	SNV	Missense	Exon 2	ECD	Pathogenic	Pidasheva	2005	15879434	10.1093/hmg/ddi176	Journal article
61	c.61G>A	G21R	Inactivating	FHH1 (heterozygous)	122254250	rs1064794290	SNV	Missense	Exon 2	ECD	VUS	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
69	c.69C>A	D23E	Activating	ADH1	122254258	NA	SNV	Missense	Exon 2	ECD	NA	Dershem	2020	32386559	10.1016/j.ajhg.2020.04.006	Journal article
73	c.73C>T	R25*	Inactivating	FHH1 (heterozygous)	122254262	rs201633414	SNV	Nonsense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
73	c.73C>T	R25*	Inactivating	FHH1 (heterozygous)	122254262	rs201633414	SNV	Missense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	Frank-Raue	2011	21521328	10.1111/j.1365-2265.2011.04059.x	Journal article
73	c.73C>T	R25*	Inactivating	FHH1 (heterozygous)	122254262	rs201633414	SNV	Missense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
73	c.73C>T	R25*	Inactivating	FHH1 (heterozygous)	122254262	rs201633414	SNV	Nonsense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
73	c.73C>T	R25*	Inactivating	NSHPT (homozygous)	122254262	rs201633414	SNV	Nonsense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
73	c.73C>T	R25*	Inactivating	FHH1 (heterozygous)	122254262	rs201633414	SNV	Nonsense	Exon 2	ECD	VUS/Likely pathogenic/Pathogenic	Ward	2006	16649980	10.1111/j.1365-2265.2006.02512.x	Journal article
76	c.76G>T	A26S	Inactivating	FHH1 (heterozygous)	122254265	NA	SNV	Missense	Exon 2	ECD	NA	Salas	2017	NA	10.1016/j.labcli.2017.03.001	Journal article
79	c.79C>G	Q27E	Activating	ADH1	122254268	NA	SNV	Missense	Exon 2	ECD	NA	Chapman	2010	NA	10.1159/000321348	Conference abstract
79	c.79C>G	Q27E	Activating	ADH1	122254268	NA	SNV	Missense	Exon 2	ECD	NA	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
80	c.80A>G	Q27R	Inactivating	FHH1 (homozygous)	122254269	NA	SNV	Missense	Exon 2	ECD	NA	Chikatsu	1999	10468915	10.1046/j.1365-2265.1999.00729.x	Journal article
80	c.80A>C	Q27P	Inactivating	FHH1	122254269	NA	SNV	Missense	Exon 2	ECD	NA	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
80	c.80A>G	Q27R	Inactivating	FHH1	122254269	NA	SNV	Missense	Exon 2	ECD	NA	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
85	c.85A>G	K29E	Activating	ADH1	122254274	rs397514729	SNV	Missense	Exon 2	ECD	Pathogenic	Hu	2004	15005845	10.1359/JBMR.040106	Journal article
85	c.85A>G	K29E	Activating	ADH1	122254274	rs397514729	SNV	Missense	Exon 2	ECD	Pathogenic	Letz	2014	25506941	10.1371/journal.pone.0115178	Journal article
85	c.85A>G	K29E	Activating	ADH1/Bartter syndrome type V	122254274	rs397514729	SNV	Missense	Exon 2	ECD	Pathogenic	Vezzoli	2006	17048213	NA	Journal article
91	c.91dup	D31fs*	Inactivating	FHH1	122254275	NA	Small insertion	Frameshift	Exon 2	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
94	c.94A>G	I32V	Inactivating	FHH1 (heterozygous)	122254283	NA	SNV	Missense	Exon 2	ECD	VUS	Szalat	2015	25091521	10.1007/s12020-014-0370-3	Journal article
94	c.94A>G	I32V	Inactivating	FHH1 (heterozygous)	122254283	NA	SNV	Missense	Exon 2	ECD	VUS	Szalat	2017	28176280	10.1007/s12020-017-1241-5	Journal article
108	c.108_109insC	L37A*fs11	Inactivating	FHH1 (heterozygous)	122254297	NA	Small insertion	Frameshift	Exon 2	ECD	NA	Gurtunca	2012	NA	Gurtunca 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
108	c.108del	L37fs*	Inactivating	FHH1	122254292	NA	Small deletion	Frameshift	Exon 2	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
108	c.108dup	L37fs*	NA	NA	122254291	rs886041823	Small insertion	Frameshift	Exon 2	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
110	c.110T>C	L37P	Inactivating	FHH1	122254299	NA	SNV	Missense	Exon 2	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
112	c.112_113ins	F38fs*	NA	NA	122254301	NA	Small insertion	Frameshift	Exon 2	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
115	c.115C>G	P39A	Inactivating	NSHPT (homozygous)	122254304	rs121909262	SNV	Missense	Exon 2	ECD	Pathogenic	Abdullayev	2020	31931451	10.1016/j.ijscr.2019.12.024	Journal article
115	c.115C>G	P39A	Inactivating	FHH1 (homozygous)	122254304	rs121909262	SNV	Missense	Exon 2	ECD	Pathogenic	Chikatsu	1999	10468915	10.1046/j.1365-2265.1999.00729.x	Journal article
115	c.115C>G	P39A	Inactivating	FHH1	122254304	rs121909262	SNV	Missense	Exon 2	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
118	c.118A>T	I40F	Inactivating	FHH1	122254307	NA	SNV	Missense	Exon 2	ECD	NA	Vargas-Poussou	2002	12191970	10.1097/01.asn.0000025781.16723.68	Journal article
122	c.122A>G	H41R	Inactivating	FHH1 (heterozygous)	122254311	NA	SNV	Missense	Exon 2	ECD	NA	Courtney	2022	36536367	10.1186/s12902-022-01231-z	Journal article
125	c.125T>C	F42S	Inactivating	FHH1	122254314	rs1553765909	SNV	Missense	Exon 2	ECD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
139	c.139A>G	K47E	Inactivating	FHH1	122254328	NA	SNV	Missense	Exon 2	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
141	c.141A>C	K47N	Activating	ADH1	122254330	rs104893702	SNV	Missense	Exon 2	ECD	Pathogenic	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
141	c.141A>C	K47N	Activating	ADH1	122254330	rs104893702	SNV	Missense	Exon 2	ECD	Pathogenic	Okazaki	1999	9920108	10.1210/jcem.84.1.5385	Journal article
152	c.152T>G	L51R	Inactivating	FHH1	122254341	NA	SNV	Missense	Exon 2	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
157	c.157T>C	S53P	Inactivating	FHH1 (heterozygous)	122254346	NA	SNV	Missense	Exon 2	ECD	Pathogenic	Alix	2014	25444087	10.1016/j.jbspin.2014.08.007	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
164	c.164C>T	P55R	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	López	2011	21697018	10.1016/j.endonu.2011.04.004	Journal article
164	c.164C>T	P55L	Inactivating	FHH1	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
164	c.164C>T	P55L	Inactivating	FHH1	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Quarde	2021	NA	10.1016/j.jecr.2021.100093	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Speer	2003	14714270	10.1055/s-2003-44708	Journal article
164	c.164C>T	P55L	Inactivating	FHH1 (heterozygous)	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Sumida	2022	35733207	10.1186/s12902-022-01077-5	Journal article
164	c.164C>T	P55L	Inactivating	FHH1	122254353	rs886041154	SNV	Missense	Exon 2	ECD	Pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
166	c.166del	E56fs*	Inactivating	FHH1	122254354	rs193922424	Small deletion	Frameshift	Exon 2	ECD	Pathogenic/Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
166	c.166G>T	E56*	NA	NA	122254355	rs1358793834	SNV	Nonsense	Exon 2	ECD	Pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
168	c.168G>C	E56D	Inactivating	FHH1 (heterozygous)	122254357	NA	SNV	Missense	Exon 2	ECD	NA	Park	2022	35586626	10.3389/fendo.2022.853171	Journal article
178	c.178T>C	C60R	Inactivating	FHH1 (heterozygous)	122254367	NA	SNV	Missense	Exon 2	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
178	c.178T>G	C60G	Inactivating	FHH1 (homozygous)	122254367	NA	SNV	Missense	Exon 2	ECD	NA	Li	2021	34397587	10.1097/CM9.0000000000001568	Journal article
179	c.179G>T	C60F	Inactivating	FHH1 (heterozygous)	122254368	rs772906030	SNV	Missense	Exon 2	ECD	VUS	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
179	c.179G>A	C60Y	Inactivating	FHH1 (heterozygous)	122254368	NA	SNV	Missense	Exon 2	ECD	NA	Dong	2020	NA	10.3760/cma.j.cn511374-20191118-00587	Journal article
179	c.179G>A	C60Y	Inactivating	NSHPT (compound heterozygous)	122254368	NA	SNV	Missense	Exon 2	ECD	NA	Dong	2020	NA	10.3760/cma.j.cn511374-20191118-00587	Journal article
179	c.179G>T	C60F	Inactivating	NSHPT (compound heterozygous)	122254368	rs772906030	SNV	Missense	Exon 2	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
185	c.185G>T	R62M	Inactivating	FHH1	122254374	rs121909265	SNV	Missense	Exon 2	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
185	c.185G>T	R62M	Inactivating	FHH1 (heterozygous)	122254374	rs121909265	SNV	Missense	Exon 2	ECD	Pathogenic	Chou	1995	7726161	NA	Journal article
185	c.185+1G>C	NA	Inactivating	FHH1 (heterozygous)	122254375	NA	SNV	Splice donor	Exon 2-Intron 2 splice site	ECD	NA	Cetani	2009	19073830	10.1530/EJE-08-0798	Journal article
185	c.185+2T>C	NA	Inactivating	FHH1	122254376	NA	SNV	Splice donor	Exon 2-Intron 2 splice site	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
186	c186-1G>T	R62_164delfs*94	Inactivating	FHH1 (heterozygous)	122257080	rs797044441	SNV	Splice acceptor/frameshift	Intron 2-Exon 3 splice site	ECD	Pathogenic	D'Souza-Li	2001	11668634	10.1002/humu.1212	Journal article
186	c.186del	R62Sfs*13	Inactivating	FHH1	122257081	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
190	c.190A>G	N64D	Inactivating	FHH1	122257085	NA	SNV	Missense	Exon 3	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
196	c.196C>T	R66C	Inactivating	FHH1 (heterozygous)	122257091	rs121909266	SNV	Missense	Exon 3	ECD	Likely pathogenic	Chou	1995	7726161	NA	Journal article
196	c.196C>T	R66C	Inactivating	FHH1	122257091	rs121909266	SNV	Missense	Exon 3	ECD	Likely pathogenic	Pidasheva	2006	16740594	10.1093/hmg/ddl145	Journal article
197	c.197G>A	R66H	Inactivating	FHH1 (heterozygous)	122257092	rs1276839362	SNV	Missense	Exon 3	ECD	Pathogenic/Likely pathogenic	Misof	2012	NA	10.1016/j.bone.2012.08.049	Conference abstract
197	c.197G>A	R66H	Inactivating	FHH1	122257092	rs1276839362	SNV	Missense	Exon 3	ECD	Pathogenic/Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
197	c.197G>A	R66H	Inactivating	FHH1	122257092	rs1276839362	SNV	Missense	Exon 3	ECD	Pathogenic/Likely pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
197	c.197G>A	R66H	Inactivating	FHH1	122257092	rs1276839362	SNV	Missense	Exon 3	ECD	Pathogenic/Likely pathogenic	Pidasheva	2006	16740594	10.1093/hmg/ddl145	Journal article
199	c.199delinsTTCG	G67fs*	NA	NA	122257094	rs1559956508	Small insertion/deletion	Frameshift	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
200	c.200G>T	G67V	Inactivating	FHH1	122257095	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
205	c.205C>T	R69C	Inactivating	FHH1	122257100	NA	SNV	Missense	Exon 3	ECD	VUS	Greenberg	2017	NA	Greenberg H, Probst-Riordan J. Familial hypocalciuric hypercalcemia: A novel mutation. Endocrine Reviews. 2017;38(3).	Conference abstract
205	c.205C>G	R69C	Inactivating	FHH1 (heterozygous)	122257100	NA	SNV	Missense	Exon 3	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
205	c.205C>T	R69C	Inactivating	FHH1	122257100	NA	SNV	Missense	Exon 3	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
206	c.206G>A	R69H	Inactivating	FHH1 (heterozygous)	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Corrado	2015	25828954	10.1002/jbmr.2516	Journal article
206	c.206G>A	R69H	Inactivating	NSHPT (compound heterozygous)	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Corrado	2015	25828954	10.1002/jbmr.2516	Journal article
206	c.206G>A	R69H	Inactivating	FHH1 (heterozygous)	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Haider	2022	NA	10.1159/000518849	Conference abstract
206	c.206G>A	R69H	Inactivating	FHH1	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Khairi	2020	32761341	10.1007/s12672-020-00394-2	Journal article
206	c.206G>A	R69H	Inactivating	FHH1 (heterozygous)	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Patrick-Esteve	2015	NA	10.1097/JIM.0000000000000146	Conference abstract
206	c.206G>A	R69H	Inactivating	NSHPT (homozygous)	122257101	rs193922432	SNV	Missense	Exon 3	ECD	Conflicting interpretations of pathogenicity	Wilhelm-Bals	2012	22331334	10.1542/peds.2011-0128	Journal article
209	c.209G>A	W70*	NA	NA	122257104	NA	SNV	Nonsense	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
212	c.212T>G	L71*	Inactivating	FHH1 (heterozygous)	122257107	NA	SNV	Nonsense	Exon 3	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
212	c.212T>G	L71*	Inactivating	FHH1 (heterozygous)	122257107	NA	SNV	Nonsense	Exon 3	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
220	c.220A>G	M74V	Inactivating	FHH1	122257115	NA	SNV	Missense	Exon 3	ECD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
220	c.220A>G	M74V	Inactivating	FHH1	122257115	NA	SNV	Missense	Exon 3	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
222	c.222_226delGATAT	M74Ifs*24	Inactivating	FHH1 (heterozygous)	122257117	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Atay	2014	24735972	10.1016/j.bone.2014.04.010	Journal article
222	c.222_226delGATAT	M74Ifs*24	Inactivating	NSHPT (homozygous)	122257117	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Atay	2014	24735972	10.1016/j.bone.2014.04.010	Journal article
222	c.222_226delGATAT	M74Ifs*24	Inactivating	NSHPT (homozygous)	122257117	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Çömlek	2022	35399047	10.5114/pedm.2022.115070	Journal article
222	c.222_226delGATAT	M74Ifs*24	Inactivating	FHH1 (heterozygous)	122257117	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Özgüç Çömlek	2022	35399047	10.5114/pedm.2022.115070	Journal article
230	c.230C>T	A77V	Inactivating	FHH1	122257125	NA	SNV	Missense	Exon 3	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
230	c.230C>T	A77V	Inactivating	FHH1	122257125	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
240	c.240G>T	E80D	Inactivating	FHH1	122257135	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
242	c.242T>A	I81K	Inactivating	FHH1	122257137	NA	SNV	Missense	Exon 3	ECD	NA	Joseph	2022	NA	https://jme.bioscientifica.com/abstract/journals/jme/69/1/JME-21-0263.xml	Journal article
243	c.243A>G	I81M	Inactivating	FHH1	122257138	NA	SNV	Missense	Exon 3	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
246	c.246C>G	N82K	Inactivating	FHH1	122257141	NA	SNV	Missense	Exon 3	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
246	c.246C>G	N82K	Inactivating	FHH1	122257141	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
272	c.272T>A	L91*	Inactivating	FHH1	122257167	NA	SNV	Nonsense	Exon 3	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
280	c.280G>C	G94R	Inactivating	FHH1	122257175	NA	SNV	Missense	Exon 3	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
280	c.280G>T	G94*	Inactivating	NSHPT (compound heterozygous)	122257175	rs104893705	SNV	Nonsense	Exon 3	ECD	VUS/Pathogenic	Ward	2004	15292296	10.1210/jc.2003-031653	Journal article
281	c.281G>A	G94E	Inactivating	NSHPT (homozygous)	122257176	rs1576854356	SNV	Missense	Exon 3	ECD	VUS	Solovitz	2019	NA	10.1159/000501868	Conference abstract
284	c.284A>G	Y95C	Inactivating	FHH1	122257179	rs1060502850	SNV	Missense	Exon 3	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
295	c.295G>C	D99H	Inactivating	NSHPT (homozygous)	122257190	NA	SNV	Missense	Exon 3	ECD	NA	Haider	2022	NA	10.1159/000518849	Conference abstract
295	c.295G>C	D99H	Inactivating	NSHPT (homozygous)	122257190	NA	SNV	Missense	Exon 3	ECD	NA	Shaukat	2022	NA	10.47391/JPMA.4195	Journal article
299	c.299C>T	T100I	Inactivating	FHH1 (heterozygous)	122257194	NA	SNV	Missense	Exon 3	ECD	NA	Warner	2004	14985373	10.1136/jmg.2003.016725	Journal article
301	c.301T>C	C101R	Inactivating	FHH1	122257196	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
303	c.303C>G	C101W	Inactivating	FHH1 (heterozygous)	122257198	NA	SNV	Missense	Exon 3	ECD	NA	Cetani	2019	NA	Cetani 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
303	c.303C>G	C101W	Inactivating	FHH1	122257198	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
310	c.310G>A	V104I	Activating	ADH1	122257205	rs2074564250	SNV	Missense	Exon 3	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
319	c.319G>A	A107T	Inactivating	FHH1	122257214	NA	SNV	Missense	Exon 3	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
323	c.323del	L108fs*	NA	NA	122257217	rs1559956616	Small deletion	Frameshift	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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
328	c.328G>A	A110T	Inactivating	FHH1	122257223	NA	SNV	Missense	Exon 3	ECD	NA	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
328	c.328G>A	A110T	Inactivating	FHH1	122257223	NA	SNV	Missense	Exon 3	ECD	NA	Nakamura	2013	23966241	10.1210/jc.2013-1974	Journal article
329	c.329C>A	A110D	Inactivating	FHH1 (heterozygous)	122257224	rs1559956624	SNV	Missense	Exon 3	ECD	VUS	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
329	c.329C>A	A110D	Inactivating	FHH1 (heterozygous)	122257224	NA	SNV	Missense	Exon 3	ECD	VUS	Bletsis	2022	36189134	10.1016/j.aace.2022.05.002	Journal article
344	c.344_358delTTGCTCAAAACAAAA	A116_I120del	Activating	ADH1	122257239	NA	Small deletion	Deletion	Exon 3	ECD	NA	Sozaeva	2022	NA	10.24110/0031-403X-2022-101-6-186-191	Journal article
346	c.346G>C	A116P	Activating	ADH1	122257241	NA	SNV	Missense	Exon 3	ECD	NA	Chapman	2010	NA	10.1159/000321348	Conference abstract
346	c.346G>C	A116P	Activating	ADH1	122257241	NA	SNV	Missense	Exon 3	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
346	c.346G>A	A116T	Activating	ADH1	122257241	rs104893691	SNV	Missense	Exon 3	ECD	Likely pathogenic	Baron	1996	8733126	10.1093/hmg/5.5.601	Journal article
349	c.349C>T	Q117*	NA	NA	122257244	NA	SNV	Nonsense	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
354	c.354C>A	N118K	Activating	ADH1	122257249	rs104893695	SNV	Missense	Exon 3	ECD	Pathogenic	Hu	2002	12162500	10.1359/jbmr.2002.17.8.1461	Journal article
354	c.354C>A	N118K	Activating	ADH1	122257249	rs104893695	SNV	Missense	Exon 3	ECD	Pathogenic	Pearce	1996	8813042	10.1056/NEJM199610103351505	Journal article
354	c.354C>A	N118K	Activating	ADH1	122257249	rs104893695	SNV	Missense	Exon 3	ECD	Pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
356	c.356A>T	K119I	Activating	ADH1	122257251	NA	SNV	Missense	Exon 3	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
357	c.357_358del	K119fs*	NA	NA	122257250	NA	Small deletion	Frameshift	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
361	c.361_364delGATT	D121fs*2	Inactivating	FHH1 (heterozygous)	122257256	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Falchetti	2012	22315359	10.1530/EJE-11-0953	Journal article
365	c.365C>G	S122C	Activating	ADH1	122257260	NA	SNV	Missense	Exon 3	ECD	NA	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
365	c.365C>G	S122C	Activating	ADH1	122257260	NA	SNV	Missense	Exon 3	ECD	NA	Nakamura	2013	23966241	10.1210/jc.2013-1974	Journal article
367	c.367T>A	L123M	Activating	ADH1	122257262	NA	SNV	Missense	Exon 3	ECD	VUS	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
368	c.368T>C	L123S	Activating	ADH1	122257263	NA	SNV	Missense	Exon 3	ECD	NA	Festas Silva	2021	34866060	10.1530/EDM-21-0005	Journal article
368	c.368T>C	L123S	Activating	ADH1	122257263	NA	SNV	Missense	Exon 3	ECD	NA	Papadopoulou	2017	28742508	10.14310/horm.2002.1734	Journal article
368	c.368T>C	L123S	Activating	ADH1	122257263	NA	SNV	Missense	Exon 3	ECD	NA	Regala	2015	27617113	10.1055/s-0035-1554979	Journal article
372	c.372C>A	N124K	Activating	ADH1	122257267	NA	SNV	Missense	Exon 3	ECD	VUS	Ranieri	2013	24244430	10.1371/journal.pone.0079113	Journal article
372	c.372C>A	N124K	Activating	ADH1	122257267	NA	SNV	Missense	Exon 3	ECD	VUS	Schouten	2011	21441391	10.1258/acb.2010.010139	Journal article
373	c.373C>T	L125F	Activating	ADH1	122257268	NA	SNV	Missense	Exon 3	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
374	c.374T>C	L125P	Activating	ADH1	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Hauche	2000	11089548	10.1210/endo.141.11.7753	Journal article
374	c.374T>C	L125P	Activating	ADH1	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Hu	2002	12162500	10.1359/jbmr.2002.17.8.1461	Journal article
374	c.374T>C	L125P	Activating	ADH1/Bartter syndrome type V	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Letz	2014	25506941	10.1371/journal.pone.0115178	Journal article
374	c.374T>C	L125P	Activating	ADH1	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
374	c.374T>C	L125P	Activating	ADH1	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Sato	2002	12107202	10.1210/jcem.87.7.8639	Journal article
374	c.374T>C	L125P	Activating	ADH1	122257269	NA	SNV	Missense	Exon 3	ECD	Pathogenic	Vargas-Poussou	2002	12191970	10.1097/01.asn.0000025781.16723.68	Journal article
377	c.377A>T	D126V	Activating	ADH1	122257272	rs1553766257	SNV	Missense	Exon 3	ECD	VUS	Rasmussen	2018	29743878	10.3389/fendo.2018.00200	Journal article
379	c.379G>A	E127K	Activating	ADH1	122257274	rs104893710	SNV	Missense	Exon 3	ECD	Pathogenic	Hawkes	2020	33112267	10.1530/EJE-20-0710	Journal article
379	c.379G>A	E127K	Activating	ADH1	122257274	rs104893710	SNV	Missense	Exon 3	ECD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
379	c.379G>A	E127K	Activating	ADH1	122257274	rs104893710	SNV	Missense	Exon 3	ECD	Pathogenic	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
380	c.380A>G	E127G	Activating	ADH1	122257275	rs121909260	SNV	Missense	Exon 3	ECD	Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
380	c.380A>C	E127A	Activating	ADH1	122257275	rs121909260	SNV	Missense	Exon 3	ECD	Pathogenic	Loseva	2018	NA	Loseva V, Mulloy AL, Sinnott BP. Autosomal dominant hypocalcemia: An important but often unrecognized cause of hypoparathyroidism. Endocrine Reviews. 2018;39(2).	Conference abstract
380	c.380A>C	E127A	Activating	ADH1	122257275	rs121909260	SNV	Missense	Exon 3	ECD	Pathogenic	Pollak	1994	7874174	10.1038/ng1194-303	Journal article
382	c.382T>C	F128L	Activating	ADH1	122257277	rs104893696	SNV	Missense	Exon 3	ECD	Pathogenic	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
383	c.383T>G	F128C	Activating	ADH1	122257278	NA	SNV	Missense	Exon 3	ECD	NA	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
384	c.384C>A	F128L	Activating	ADH1	122257279	rs1553766262	SNV	Missense	Exon 3	ECD	Pathogenic	Pearce	1996	8813042	10.1056/NEJM199610103351505	Journal article
385	c.385T>A	C129S	Activating	ADH1	122257280	NA	SNV	Missense	Exon 3	ECD	NA	Hirai	2001	11289719	10.1007/s100380170124	Journal article
385	c.385T>C	C129R	Activating	ADH1	122257280	NA	SNV	Missense	Exon 3	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
386	c.386G>A	C129Y	Activating	ADH1	122257281	rs2074565392	SNV	Missense	Exon 3	ECD	Pathogenic	Burren	2005	16128246	10.1515/jpem.2005.18.7.689	Journal article
386	c.386G>C	C129S	Activating	ADH1	122257281	NA	SNV	Missense	Exon 3	ECD	NA	Kurozumi	2013	24042516	10.2169/internalmedicine.52.8375	Journal article
386	c.386G>T	C129F	Activating	ADH1	122257281	NA	SNV	Missense	Exon 3	ECD	NA	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
386	c.386G>A	C129Y	Activating	ADH1	122257281	rs2074565392	SNV	Missense	Exon 3	ECD	Pathogenic	Schouten	2011	21441391	10.1258/acb.2010.010139	Journal article
391	c.391T>A	C131R	Activating	ADH1	122257286	NA	SNV	Missense	Exon 3	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
392	c.392G>A	C131Y	Activating	ADH1	122257287	NA	SNV	Missense	Exon 3	ECD	NA	Chen	2017	NA	10.1159/000481424	Conference abstract
392	c.392G>A	C131Y	Activating	ADH1	122257287	NA	SNV	Missense	Exon 3	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
392	c.392G>T	C131F	Activating	ADH1	122257287	NA	SNV	Missense	Exon 3	ECD	NA	Suzuki	2005	15960151	10.5414/CNP63481	Journal article
392	c.392G>A	C131Y	Activating	ADH1	122257287	NA	SNV	Missense	Exon 3	ECD	NA	Thim	2014	25039540	10.1111/apa.12743	Conference abstract
392	c.392G>A	C131Y	Activating	ADH1	122257287	NA	SNV	Missense	Exon 3	ECD	NA	Watanabe	2002	12241879	10.1016/S0140-6736(02)09842-2	Journal article
393	c.393C>G	C131W	Activating	ADH1/Bartter syndrome type V	122257288	rs121909267	SNV	Missense	Exon 3	ECD	Pathogenic	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
393	c.393C>G	C131W	Activating	ADH1/Bartter syndrome type V	122257288	rs121909267	SNV	Missense	Exon 3	ECD	Pathogenic	Letz	2014	25506941	10.1371/journal.pone.0115178	Journal article
398	c.398A>T	E133V	Activating	ADH1	122257293	NA	SNV	Missense	Exon 3	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
398	c.398A>T	E133V	Activating	ADH1	122257293	NA	SNV	Missense	Exon 3	ECD	NA	Tan	2022	35870823	10.1016/j.kint.2022.02.014	Conference abstract
407	c.407C>T	P136L	Activating	ADH1	122257302	NA	SNV	Missense	Exon 3	ECD	NA	Finn	2012	NA	10.1136/archdischild-2012-301885.291	Journal article
407	c.407C>T	P136L	Activating	ADH1	122257302	NA	SNV	Missense	Exon 3	ECD	NA	Gupta	2012	NA	10.1159/000343182	Conference abstract
408	c.408C>T	P136L	Activating	ADH1	122257303	NA	SNV	Missense	Exon 3	ECD	NA	Baran	2015	25766501	10.1016/j.mce.2015.02.021	Journal article
413	c.413C>T	T138M	Inactivating	FHH1 (heterozygous)	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Alam	2021	35300448	10.4103/ijem.ijem_349_21	Journal article
413	c.413C>T	T138M	Inactivating	FHH1 (heterozygous)	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
413	c.413C>T	T138M	Inactivating	FHH1 (heterozygous)	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
413	c.413C>T	T138M	Inactivating	FHH1	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
413	c.413C>T	T138M	Inactivating	FHH1 (heterozygous)	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Rosen	2017	NA	Rosen SG. Pregnancy complicated by hypocalciuric hypercalcemia. Endocrine Reviews. 2017;38(3).	Conference abstract
413	c.413C>T	T138M	Inactivating	FHH1 (heterozygous)	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Chou	1995	7726161	NA	Journal article
413	c.413C>T	T138M	Inactivating	FHH1	122257308	rs121909263	SNV	Missense	Exon 3	ECD	Likely pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
416	c.416T>C	I139T	Activating	ADH1	122257311	rs1060502860	SNV	Missense	Exon 3	ECD	VUS	Guo	2022	36935580	10.1515/jpem-2022-0623	Journal article
416	c.416T>C	I139T	Activating	ADH1	122257311	rs1060502860	SNV	Missense	Exon 3	ECD	VUS	Wu	2022	35818129	10.1177/03000605221110489	Journal article
416	c.416T>C	I139T	Activating	ADH1	122257311	rs1060502860	SNV	Missense	Exon 3	ECD	VUS	Zung	2023	36812896	10.1159/000529833	Journal article
419	c.419C>T	A140V	Inactivating	FHH1	122257314	NA	SNV	Missense	Exon 3	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
419	c.419C>T	A140V	Inactivating	FHH1	122257314	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
422	c.422T>C	V141A	Inactivating	FHH1	122257317	rs1085307643	SNV	Missense	Exon 3	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
427	c.427G>A	G143R	Inactivating	FHH1 (heterozygous)	122257322	rs769256610	SNV	Missense	Exon 3	ECD	Likely pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
427	c.427G>C	G143R	Inactivating	FHH1	122257322	NA	SNV	Missense	Exon 3	ECD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
427	c.427G>C	G143R	Inactivating	FHH1	122257322	NA	SNV	Missense	Exon 3	ECD	Likely pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
428	c.428G>A	G143E	Inactivating	FHH1 (heterozygous)	122257323	rs121909264	SNV	Missense	Exon 3	ECD	Pathogenic/Likely pathogenic	Chou	1995	7726161	NA	Journal article
434	c.434C>T	T145I	Inactivating	FHH1	122257329	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
437	c.437G>A	G146D	Inactivating	FHH1 (heterozygous)	122257332	NA	SNV	Missense	Exon 3	ECD	VUS	Carllson	2019	30895164	10.1155/2019/9468252	Journal article
439	c.439C>T	S147L	Inactivating	FHH1 (heterozygous)	122257334	NA	SNV	Missense	Exon 3	ECD	NA	Majumdar	2018	33062349	10.1155/2020/8752610	Journal article
448	c.448_449dup	T151fs*	NA	NA	122257340	rs1576854561	Small insertion	Frameshift	Exon 3	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
449	c.449C>G	S150C	Inactivating	FHH1	122257344	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
452	c.452C>T	T151M	Activating	ADH1	122257347	rs104893694	SNV	Missense	Exon 3	ECD	Pathogenic	Gonzales	2013	23186954	10.4158/EP12132.CR	Journal article
452	c.452C>T	T151M	Activating	ADH1	122257347	rs104893694	SNV	Missense	Exon 3	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
452	c.452C>G	T151R	Activating	ADH1	122257347	NA	SNV	Missense	Exon 3	ECD	NA	Letz	2010	20668040	10.1210/jc.2010-0651	Journal article
452	c.452C>T	T151M	Activating	ADH1	122257347	rs104893694	SNV	Missense	Exon 3	ECD	Pathogenic	Pearce	1996	8813042	10.1056/NEJM199610103351505	Journal article
452	c.452C>T	T151M	Activating	ADH1	122257347	rs104893694	SNV	Missense	Exon 3	ECD	Pathogenic	Sørheim	2010	20501971	10.1159/000303188	Journal article
452	c.452C>G	T151R	Activating	ADH1	122257347	NA	SNV	Missense	Exon 3	ECD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
472	c.472G>A	G158R	Inactivating	FHH1	122257367	NA	SNV	Missense	Exon 3	ECD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
473	c.473G>A	G158E	Inactivating	FHH1 (heterozygous)	122257368	rs2074566747	SNV	Missense	Exon 3	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
473	c.473G>C	G158A	Inactivating	FHH1 (heterozygous)	122257368	NA	SNV	Missense	Exon 3	ECD	NA	Porta Vilaró	2022	NA	10.1016/j.mcpsp.2021.100260	Journal article
476	c.476T>G	L159R	Inactivating	FHH1 (heterozygous)	122257371	NA	SNV	Missense	Exon 3	ECD	NA	Ho	2010	21175100	10.1515/jpem.2010.156	Journal article
476	c.476T>C	L159P	Inactivating	FHH1 (heterozygous)	122257371	NA	SNV	Missense	Exon 3	ECD	NA	Simonds	2002	11807402	10.1097/00005792-200201000-00001	Journal article
482	c.482A>G	Y161C	Inactivating	FHH1 (heterozygous)	122257377	NA	SNV	Missense	Exon 3	ECD	NA	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
482	c.482A>G	Y161C	Inactivating	FHH1 (heterozygous)	122257377	NA	SNV	Missense	Exon 3	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
484	c.484A>T	I162F	Inactivating	FHH1	122257379	NA	SNV	Missense	Exon 3	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
488	c.488C>T	P163L	Inactivating	FHH1 (heterozygous)	122257383	NA	SNV	Missense	Exon 3	ECD	NA	Cetani	2019	NA	Cetani 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
488	c.488C>G	P163R	Inactivating	FHH1 (heterozygous)	122257383	NA	SNV	Missense	Exon 3	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
490	c.490C>T	Q164*	Inactivating	NSHPT (homozygous)	122257385	NA	SNV	Nonsense	Exon 3	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
490	c.490C>A	Q164R	Inactivating	FHH1 (heterozygous)	122257385	rs2074567065	SNV	Missense	Exon 3	ECD	VUS	Kim	2014	24754691	10.1111/imj.12383	Journal article
490	c.490C>T	Q164*	Inactivating	FHH1	122257385	NA	SNV	Nonsense	Exon 3	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
490	c.490C>T	Q164*	Inactivating	NSHPT (homozygous)	122257385	NA	SNV	Nonsense	Exon 3	ECD	VUS	Waller	2004	15241688	10.1007/s00431-004-1491-0	Journal article
491	c.491A>G	Q164R	Inactivating	FHH1 (heterozygous)	122257386	rs2074567065	SNV	Missense	Exon 3	ECD	VUS	Coughlan	2022	35420006	Coughlan AK, Khan F, Brassill MJ. A Novel Genetic Variant Resulting in Familial Hypocalciuric Hypercalcaemia. Irish Medical Journal. 2022;115(2).	Journal article
492	c.492+1G>C	NA	Inactivating	NSHPT (homozygous)	122257388	NA	SNV	Splice donor	Exon 3-intron 3 splice site	ECD	NA	Sadacharan	2020	32699790	10.4103/ijem.IJEM_53_20	Journal article
493	c.493-12G>A	NA	Inactivating	NSHPT (homozygous)	122261516	NA	SNV	Splice acceptor	Intron 3-Exon 4 splice site	ECD	NA	Arif	2021	NA	https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1306/	Conference abstract
493	c.493-1G>A	Two amino acid missense peptide followed by a stop at codon 167 or an in-frame deletion of exon 4	Inactivating	FHH1 (heterozygous)	122261527	NA	SNV	Splice acceptor	Intron 3-Exon 4 splice site	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
493	c.493_497del	V165fs*24	Inactivating	NSHPT (homozygous)	122261528	NA	Small deletion	Frameshift	Exon 4	ECD	NA	Ward	2006	16509534	10.1515/jpem.2006.19.1.93	Journal article
496	c.496A>G	S166G	Inactivating	FHH1	122261531	rs193922441	SNV	Missense	Exon 4	ECD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
497	c.497G>T	S166I	Inactivating	FHH1	122261532	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
501	c.501T>A	Y167*	Inactivating	FHH1	122261536	NA	SNV	Nonsense	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
503	c.503C>T	A168V	Inactivating	FHH1	122261538	rs1576857840	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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
505	c.505T>C	S169P	Inactivating	FHH1	122261540	rs1553766709	SNV	Missense	Exon 4	ECD	VUS	Khairi	2020	32761341	10.1007/s12672-020-00394-2	Journal article
512	c.512G>A	S171N	Inactivating	FHH1 (heterozygous)	122261547	NA	SNV	Missense	Exon 4	ECD	NA	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
512	c.512G>A	S171N	Inactivating	FHH1 (heterozygous)	122261547	NA	SNV	Missense	Exon 4	ECD	NA	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
512	c.512G>A	S171N	Inactivating	FHH1 (heterozygous)	122261547	NA	SNV	Missense	Exon 4	ECD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
512	c.512G>A	S171N	Inactivating	FHH1 (heterozygous)	122261547	NA	SNV	Missense	Exon 4	ECD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
513	c.513C>A	S171R	Inactivating	FHH1	122261548	rs764149433	SNV	Missense	Exon 4	ECD	VUS	Khairi	2020	32761341	10.1007/s12672-020-00394-2	Journal article
513	c.513C>A	S171R	Inactivating	FHH1	122261548	rs764149433	SNV	Missense	Exon 4	ECD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
513	c.513C>A	S171R	Inactivating	FHH1	122261548	rs764149433	SNV	Missense	Exon 4	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
514	c.514A>G	R172G	Inactivating	FHH1 (heterozygous)	122261549	rs201851934	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
514	c.514A>G	R172G	Inactivating	FHH1 (heterozygous)	122261549	rs201851934	SNV	Missense	Exon 4	ECD	Pathogenic	Hinnie	2009	20034274	10.1258/rsmsmj.54.4.11	Journal article
514	c.514A>G	R172G	Inactivating	FHH1	122261549	rs201851934	SNV	Missense	Exon 4	ECD	Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
514	c.514A>G	R172G	Inactivating	FHH1	122261549	rs201851934	SNV	Missense	Exon 4	ECD	Pathogenic	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
514	c.514A>G	R172G	Inactivating	FHH1	122261549	rs201851934	SNV	Missense	Exon 4	ECD	Pathogenic	Nakamura	2013	23966241	10.1210/jc.2013-1974	Journal article
517	c.517C>T	L173F	Activating	ADH1	122261552	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
518	c.518T>C	L173P	Inactivating	FHH1 (heterozygous)	122261553	NA	SNV	Missense	Exon 4	ECD	Pathogenic	Felderbauer	2005	15662592	10.1055/s-2004-830523	Journal article
518	c.518T>C	L173P	Inactivating	FHH1	122261553	NA	SNV	Missense	Exon 4	ECD	Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
521	c.521T>G	L174R	Inactivating	FHH1 (heterozygous)	122261556	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
521	c.521T>G	L174R	Inactivating	FHH1 (heterozygous)	122261556	NA	SNV	Missense	Exon 4	ECD	NA	Ward	1997	9298824	10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J	Journal article
521	c.521T>G	L174R	Inactivating	FHH1 (heterozygous)	122261556	NA	SNV	Missense	Exon 4	ECD	NA	Ward	2006	16649980	10.1111/j.1365-2265.2006.02512.x	Journal article
524	c.524G>T	S175I	Inactivating	FHH1	122261559	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
528	c.528del	N176fs*	NA	NA	122261563	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
532	c.532A>G	N178D	Inactivating	FHH1 (heterozygous)	122261567	rs1060502855	SNV	Missense	Exon 4	ECD	Likely pathogenic	Pearce	1996	9039332	10.1046/j.1365-2265.1996.750891.x	Journal article
532	c.532A>G	N178D	Inactivating	FHH1 (heterozygous)	122261567	rs1060502855	SNV	Missense	Exon 4	ECD	Likely pathogenic	Saeed	2018	NA	Saeed ZI, Lteif AA. A variance of the calcium sensing receptor (CASR) gene becoming clinically significant. Endocrine Reviews. 2018;39(2).	Journal article
532	c.532A>T	N178Y	Activating	ADH1	122261567	NA	SNV	Missense	Exon 4	ECD	VUS	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
539	c.539T>G	F180C	Inactivating	FHH1	122261574	rs121909268	SNV	Missense	Exon 4	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
539	c.539T>G	F180C	Inactivating	FHH1	122261574	rs121909268	SNV	Missense	Exon 4	ECD	Pathogenic	Zajíčková	2007	17473068	10.1210/jc.2007-0123	Journal article
547	c.547T>C	F183L	Inactivating	FHH1	122261582	NA	SNV	Missense	Exon 4	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
547	c.547_548del	F183fs*	NA	NA	122261581	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
553	c.553C>T	R185*	Inactivating	NSHPT (compound heterozygous)	122261588	rs104893707	SNV	Nonsense	Exon 4	ECD	VUS/Likely pathogenic/Pathogenic	Kobayashi	1997	9253359	10.1210/jcem.82.8.4135	Journal article
553	c.553C>G	R185G	Inactivating	FHH1	122261588	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Aubert-Mucca	2015	34169121	10.1016/j.bonr.2021.101097	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Bond	2017	NA	Bond 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
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Chapman	2010	NA	10.1159/000321348	Conference abstract
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Döğer	2019	NA	https://abstracts.eurospe.org/hrp/0092/hrp0092p2-44	Conference abstract
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Fisher	2015	26161261	10.1530/EDM-15-0040	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Forman	2018	30730839	10.1515/jpem-2018-0307	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Gannon	2013	24203066	10.1210/jc.2013-2834	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Glaudo	2016	27666534	10.1530/EJE-16-0223	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Höppner	2021	34659108	10.3389/fendo.2021.700612	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Krupinova	2020	33369373	10.14341/probl12537	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Moll	2013	NA	Moll GW, Moll CL. Progressive hypercalcemia in a prepubertal male: Assessment and response to cinacalcet. Endocrine Reviews. 2013;34(3).	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Obermannova	2009	18751724	10.1007/s00431-008-0794-y	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Palmieri	2022	35141253	10.3389/fmed.2021.809067	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Pollak	1993	7916660	10.1016/0092-8674(93)90617-y	Journal article
554	c.554G>A	R185Q	Inactivating	NSHPT (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Reh	2011	21289269	10.1210/jc.2010-1306	Journal article
554	c.554G>A	R185Q	Inactivating	FHH1 (heterozygous)	122261589	rs104893689	SNV	Missense	Exon 4	ECD	Pathogenic	Sánchez	2019	NA	Sánchez A, Rossi E. Genetic hypercalcemic hypocalciuria in a Prepubertal boy. Revista Medica de Rosario. 2019;85(2):77-80.	Journal article
554	c.554del	R185fs*	Inactivating	FHH1	122261589	rs193922442	Small deletion	Frameshift	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
557	c.557C>A	T186N	Activating	ADH1	122261592	NA	SNV	Missense	Exon 4	ECD	NA	Tsuji	2021	33506158	10.1210/jendso/bvaa190	Journal article
568	c.568G>A	D190N	Inactivating	FHH1	122261603	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
569	c.569A>G	D190G	Inactivating	FHH1 (heterozygous)	122261604	NA	SNV	Missense	Exon 4	ECD	NA	Nanjo	2010	20697181	10.1507/endocrj.k10e-178	Journal article
570	c.570delT	D190fs*67	Inactivating	NSHPT (homozygous)	122261605	NA	Small deletion	Frameshift	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
570	c.570T>G	D190E	Inactivating	FHH1	122261605	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
570	c.570delT	D190fs*67	Inactivating	NSHPT (homozygous)	122261605	NA	Small deletion	Frameshift	Exon 4	ECD	NA	Webb	2009	NA	10.1016/j.bone.2009.04.137	Journal article
571	c.571G>A	E191K	Activating	ADH1	122261606	rs104893697	SNV	Missense	Exon 4	ECD	Pathogenic	Pearce	1996	8813042	10.1056/NEJM199610103351505	Journal article
577	c.577C>T	Q193*	NA	NA	122261612	rs1064793992	SNV	Nonsense	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
593	c.593C>A	A198E	Inactivating	FHH1	122261628	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
613	c.613C>T	R205C	Activating	ADH1	122261648	rs775751453	SNV	Missense	Exon 4	ECD	VUS	Ji	2021	34160437	10.1097/MD.0000000000026443	Journal article
623	c.623G>C	W208S	Inactivating	FHH1 (heterozygous)	122261658	rs2074623917	SNV	Missense	Exon 4	ECD	VUS	Demedts	2008	18296474	10.1164/ajrccm.177.5.558	Journal article
623	c.623G>C	W208S	Inactivating	FHH1 (heterozygous)	122261658	rs2074623917	SNV	Missense	Exon 4	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
624	c.624G>C	W208G	Inactivating	FHH1 (heterozygous)	122261659	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
635	c.635T>G	I212S	Inactivating	NSHPT (homozygous)	122261670	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
635	c.635T>C	I212T	Inactivating	FHH1 (heterozygous)	122261670	rs1576858127	SNV	Missense	Exon 4	ECD	VUS	Marcocci	2003	14602739	10.1210/jc.2003-030739	Journal article
638	c.638C>A	A213E	Inactivating	FHH1 (heterozygous)	122261673	NA	SNV	Missense	Exon 4	ECD	NA	Elamin	2010	21034470	10.1186/1752-1947-4-349	Journal article
643	c.643G>C	D215H	Inactivating	FHH1	122261678	rs1553731681	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
644	c.644A>G	D215G	Inactivating	FHH1 (heterozygous)	122261679	NA	SNV	Missense	Exon 4	ECD	NA	Marstrand	2021	34556169	10.1186/s13256-021-03051-6	Journal article
649	c.649G>T	D217Y	Inactivating	FHH1	122261684	rs201091657	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
652	c.652T>C	Y218H	Inactivating	FHH1 (heterozygous)	122261687	rs1057520583	SNV	Missense	Exon 4	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
652	c.652T>A	Y218N	Inactivating	FHH1	122261687	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
652	c.652T>G	Y218D	NA	NA	122261687	rs1057520583	SNV	Missense	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
653	c.653A>G	Y218C	Inactivating	FHH1 (heterozygous)	122261688	rs2074624616	SNV	Missense	Exon 4	ECD	Likely pathogenic	Cetani	2003	12580936	10.1046/j.1365-2265.2003.01696.x	Journal article
653	c.653A>G	Y218C	Inactivating	FHH1	122261688	rs2074624616	SNV	Missense	Exon 4	ECD	Likely pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
653	c.653A>G	Y218C	Inactivating	FHH1	122261688	rs2074624616	SNV	Missense	Exon 4	ECD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
653	c.653A>G	Y218C	Inactivating	FHH1 (heterozygous)	122261688	rs2074624616	SNV	Missense	Exon 4	ECD	Likely pathogenic	Quaglia	2012	NA	10.1093/ndt/gfs201	Conference abstract
653	c.653A>C	Y218S	Inactivating	FHH1 (heterozygous)	122261688	NA	SNV	Missense	Exon 4	ECD	NA	Pearce	1995	8675635	10.1172/JCI118335	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
658	c.658C>T	R220W	Inactivating	NSHPT (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Fox	2014	17974727	10.1542/peds.2006-3209	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
658	c.658C>T	R220W	Inactivating	NSHPT (homozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
658	c.658C>T	R220W	Inactivating	FHH1	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
658	c.658C>T	R220W	Inactivating	NSHPT (homozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Orlova	2011	NA	10.1159/000334328	Conference abstract
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Park	2022	35586626	10.3389/fendo.2022.853171	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Rasmussen	2011	22142470	10.1186/1752-1947-5-564	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Schwarz	2000	10885494	10.1080/003655100750044875	Journal article
658	c.658C>T	R220W	Inactivating	FHH1 (heterozygous)	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Simonds	2002	11807402	10.1097/00005792-200201000-00001	Journal article
658	c.658C>T	R220W	Inactivating	FHH1	122261693	rs1482119762	SNV	Missense	Exon 4	ECD	Pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Alon	2010	20495831	10.1007/s00467-010-1547-5	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Bahíllo-Curieses	2020	32115198	10.1016/j.medcli.2020.01.005	Journal article
659	c.659G>C	R220Q	Inactivating	FHH1 (heterozygous)	122261694	NA	SNV	Missense	Exon 4	ECD	Likely pathogenic	Egan	2012	23081733	10.1007/s00774-012-0399-4	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Fukumoto	2001	11763315	10.1097/00019606-200112000-00006	Journal article
659	c.659G>C	R220P	Inactivating	FHH1 (heterozygous)	122261694	NA	SNV	Missense	Exon 4	ECD	Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Mohammed	2008	18830196	https://medscimonit.com/abstract/index/idArt/869397	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Pearce	1996	9039332	10.1046/j.1365-2265.1996.750891.x	Journal article
659	c.659G>A	R220Q	Inactivating	FHH1 (heterozygous)	122261694	rs1202110240	SNV	Missense	Exon 4	ECD	Likely pathogenic	Ziv	2019	NA	10.1159/000501868	Conference abstract
661	c.661C>T	P221S	Inactivating	FHH1	122261696	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
661	c.661C>T	P221S	Inactivating	FHH1 (heterozygous)	122261696	NA	SNV	Missense	Exon 4	ECD	NA	Pearce	1996	9039332	10.1046/j.1365-2265.1996.750891.x	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Bastida	2021	NA	Bastida 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
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Chikatsu	2003	12733714	10.1507/endocrj.50.91	Journal article
662	c.662C>A	P221Q	Inactivating	FHH1 (heterozygous)	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
662	c.662C>A	P221Q	Inactivating	FHH1 (heterozygous)	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Conley	2000	11136551	10.1006/mgme.2000.3096	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	NA	SNV	Missense	Exon 4	ECD	Pathogenic	Eom	2011	NA	Eom 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
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Guarnieri	2012	22789683	10.1016/j.ymgme.2012.06.012	Journal article
662	c.662C>A	P221Q	Inactivating	FHH1 (heterozygous)	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
662	c.662C>A	P221Q	Inactivating	FHH1 (heterozygous)	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Khaliel	2022	NA	10.1111/dmcn.15123	Conference abstract
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Kim	2010	20119591	10.3346/jkms.2010.25.2.317	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Letz	2010	20668040	10.1210/jc.2010-0651	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
662	c.662C>A	P221Q	Inactivating	FHH1 (heterozygous)	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Shibata	2013	NA	Shibata 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
662	c.662C>T	P221L	Activating	ADH1	122261697	rs397514728	SNV	Missense	Exon 4	ECD	Pathogenic	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
664	c.664G>A	G222R	NA	NA	122261699	NA	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
665	c.665G>A	G222E	Inactivating	FHH1 (heterozygous)	122261700	NA	SNV	Missense	Exon 4	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
666	c.666del	I223fs*	Inactivating	FHH1	122261698	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic/Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
668	c.668T>C	I223T	Inactivating	FHH1 (heterozygous)	122261703	NA	SNV	Missense	Exon 4	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
668	c.668T>C	I223T	Inactivating	FHH1 (heterozygous)	122261703	NA	SNV	Missense	Exon 4	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
674	c.674A>C	K225T	Inactivating	FHH1 (heterozygous)	122261709	NA	SNV	Missense	Exon 4	ECD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
679	c.679C>T	R227*	Inactivating	NSHPT (homozygous)	122261714	rs1085307984	SNV	Nonsense	Exon 4	ECD	Pathogenic/Likely pathogenic	Al-Khalaf	2011	20972686	10.1007/s00431-010-1335-z	Journal article
679	c.679C>T	R227*	Inactivating	NSHPT (homozygous)	122261714	rs1085307984	SNV	Nonsense	Exon 4	ECD	Pathogenic/Likely pathogenic	Hashim	2019	32120468	10.4038/cmj.v64i4.8988	Journal article
679	c.679C>T	R227*	Inactivating	FHH1	122261714	rs1085307984	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
679	c.679C>T	R227*	Inactivating	FHH1	122261714	rs1085307984	SNV	Nonsense	Exon 4	ECD	Pathogenic/Likely pathogenic	Nissen	2019	31433865	10.1111/cen.14078	Journal article
679	c.679C>T	R227*	Inactivating	NSHPT (homozygous)	122261714	rs1085307984	SNV	Nonsense	Exon 4	ECD	Pathogenic/Likely pathogenic	Padeira	2021	NA	10.1159/000518849	Conference abstract
679	c.679C>T	R227*	Inactivating	FHH1	122261714	rs1085307984	SNV	Nonsense	Exon 4	ECD	Pathogenic/Likely pathogenic	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
679	c.679C>G	R227G	NA	NA	122261714	rs1085307984	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
680	c.680G>T	R227L	Inactivating	NSHPT (heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Glaudo	2016	27666534	10.1530/EJE-16-0223	Journal article
680	c.680G>A	R227Q	Inactivating	FHH1	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
680	c.680G>A	R227Q	Inactivating	FHH1 (heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
680	c.680G>A	R227Q	Inactivating	FHH1	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
680	c.680G>T	R227L	Inactivating	FHH1	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
680	c.680G>T	R227L	Inactivating	NSHPT (heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
680	c.680G>T	R227L	Inactivating	FHH1 (Heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Veldeman	2020	32306059	10.1007/s00223-020-00693-4	Journal article
680	c.680G>A	R227Q	Inactivating	FHH1 (heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Wystrychowski	2004	15572418	10.1210/jc.2004-1791	Journal article
680	c.680G>A	R227Q	Inactivating	FHH1 (heterozygous)	122261715	rs28936684	SNV	Missense	Exon 4	ECD	Pathogenic	Chou	1995	7726161	NA	Journal article
682	c.682G>C	E228Q	Activating	ADH1	122261717	NA	SNV	Missense	Exon 4	ECD	NA	Conley	2000	11136551	10.1006/mgme.2000.3096	Journal article
682	c.682G>A	E228K	Activating	ADH1	122261717	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
682	c.682G>A	E228K	Activating	ADH1	122261717	NA	SNV	Missense	Exon 4	ECD	NA	Roberts	2019	31063613	10.1002/jbmr.3747	Journal article
682	c.682G>A	E228K	Activating	ADH1	122261717	NA	SNV	Missense	Exon 4	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
683	c.683A>G	E228G	Activating	ADH1	122261718	NA	SNV	Missense	Exon 4	ECD	NA	Nakajima	2009	19915295	10.2169/internalmedicine.48.2459	Journal article
683	c.683A>C	E228A	Activating	ADH1	122261718	NA	SNV	Missense	Exon 4	ECD	NA	Roberts	2019	31063613	10.1002/jbmr.3747	Journal article
704	c.704del	I235Tfs*22	Inactivating	FHH1	122261739	NA	Small deletion	Frameshift	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
706	c.706T>G	C236G	Inactivating	FHH1 (heterozygous)	122261741	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
707	c.707_715del	C236_D238del	Inactivating	FHH1	122261742	NA	Small deletion	Deletion	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
721	c.721G>A	E241K	Activating	ADH1	122261756	NA	SNV	Missense	Exon 4	ECD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
734	c.734A>G	Q245R	Activating	ADH1	122261769	NA	SNV	Missense	Exon 4	ECD	NA	Conley	2000	11136551	10.1006/mgme.2000.3096	Journal article
734	c.734A>G	Q245R	Activating	ADH1	122261769	NA	SNV	Missense	Exon 4	ECD	NA	Roberts	2019	31063613	10.1002/jbmr.3747	Journal article
734	c.734A>G	Q245R	Activating	ADH1	122261769	NA	SNV	Missense	Exon 4	ECD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
741	c.741dupT	D248*	Inactivating	FHH1 (heterozygous)	122261776	NA	Small insertion	Nonsense	Exon 4	ECD	NA	Ann Tee	2021	34152285	10.1530/EDM-21-0024	Journal article
772	c.772_773delGTinsA	V258Rfs*47	Inactivating	FHH1 (heterozygous)	122261807	NA	Small insertion/deletion	Frameshift	Exon 4	ECD	NA	Papadopoulou	2016	27087013	10.4274/jcrpe.2800	Journal article
772	c.772_773delGTinsA	V258Rfs*47	Inactivating	FHH1 (heterozygous)	122261807	NA	Small insertion/deletion	Frameshift	Exon 4	ECD	NA	Zapanti	2015	26158657	10.14310/horm.2002.1586	Journal article
788	c.788C>T	T263M	Inactivating	FHH1 (heterozygous)	122261823	rs201456938	SNV	Missense	Exon 4	ECD	VUS	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
812	c.812C>T	S271F	Inactivating	FHH1 (heterozygous)	122261847	NA	SNV	Missense	Exon 4	ECD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
823	c.823_824del	D275fs*	NA	NA	122261857	rs1553766794	Small deletion	Frameshift	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
887	c.887G>A	S296N	Inactivating	FHH1 (heterozygous)	122261922	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
889	c.889G>A	E297K	Inactivating	FHH1 (heterozygous)	122261924	rs121909259	SNV	Missense	Exon 4	ECD	Pathogenic	Brachet	2009	19423559	10.1530/EJE-09-0257	Journal article
889	c.889G>A	E297K	Inactivating	FHH1	122261924	rs121909259	SNV	Missense	Exon 4	ECD	Pathogenic	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
889	c.889G>A	E297K	Inactivating	FHH1 (heterozygous)	122261924	rs121909259	SNV	Missense	Exon 4	ECD	Pathogenic	Pollak	1993	7916660	10.1016/0092-8674(93)90617-y	Journal article
889	c.889G>A	E297K	Inactivating	FHH1 (heterozygous)	122261924	rs121909259	SNV	Missense	Exon 4	ECD	Pathogenic	Woo	2006	16642557	10.3349/ymj.2006.47.2.255	Journal article
891	c.891G>T	E297D	Activating	ADH1	122261926	rs1559959353	SNV	Missense	Exon 4	ECD	VUS	Silve	2005	16147994	10.1074/jbc.M506263200	Journal article
893	c.893C>T	A298V	Inactivating	FHH1 (heterozygous)	122261928	rs1064797049	SNV	Missense	Exon 4	ECD	VUS	Lin	2018	NA	Lin 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
893	c.893C>T	A298V	Inactivating	FHH1	122261928	rs1064797049	SNV	Missense	Exon 4	ECD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
903	c.903del	S302fs*	NA	NA	122261938	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
905	c.905C>T	S302F	Inactivating	FHH1	122261940	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
924	c.924_925dup	Q309fs*	NA	NA	122261957	NA	Small insertion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
961	c.961_962del	A321fs*	Inactivating	FHH1	122261995	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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
967	c.967A>T	K323*	Inactivating	FHH1 (heterozygous)	122262002	NA	SNV	Nonsense	Exon 4	ECD	VUS	Ward	2006	16649980	10.1111/j.1365-2265.2006.02512.x	Journal article
974	c.974G>A	G325E	Inactivating	FHH1	122262009	rs193922444	SNV	Missense	Exon 4	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
995	c.965T>C	L322P	Activating	ADH1	122262030	NA	SNV	Missense	Exon 4	ECD	NA	Dershem	2020	32386559	10.1016/j.ajhg.2020.04.006	Journal article
1006	c.1006_1008delAAG	K336del	Inactivating	FHH1 (heterozygous)	122262041	NA	Small deletion	Deletion	Exon 4	ECD	NA	Warner	2004	14985373	10.1136/jmg.2003.016725	Journal article
1015	c.1015C>A	P339T	Inactivating	FHH1 (homozygous)	122262050	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2010	20846291	10.1111/j.1365-2265.2010.03870.x	Journal article
1031	c.1031_1034 delACAAinsT	H344_N345L	Inactivating	NSHPT (homozygous)	122262066	NA	Small deletion, insertion	Deletion/insertion	Exon 4	ECD	NA	Dong	2010	20631026	10.1210/jc.2010-0559	Journal article
1031	c.1031_1034 delACAAinsT	H344_N345L	Inactivating	FHH1 (heterozygous)	122262066	NA	Small deletion, insertion	Deletion/insertion	Exon 4	ECD	NA	Dong	2010	20631026	10.1210/jc.2010-0559	Journal article
1034	c.1034A>T	N345I	Inactivating	FHH1	122262069	rs1390562571	SNV	Missense	Exon 4	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1040	c.1040T>C	F347S	Inactivating	FHH1	122262075	NA	SNV	Missense	Exon 4	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1051	c.1051T>G	F351V	Inactivating	FHH1 (heterozygous)	122262086	NA	SNV	Missense	Exon 4	ECD	NA	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
1054	c.1054del	W352fs*	NA	NA	122262086	NA	Small deletion	Frameshift	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1056	c.1056G>A	W352*	Inactivating	FHH1 (heterozygous)	122262091	NA	SNV	Nonsense	Exon 4	ECD	VUS/Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1081	c.1081C>T	Q361*	NA	NA	122262116	NA	SNV	Nonsense	Exon 4	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1096	c.1096G>T	G366*	Inactivating	FHH1 (heterozygous)	122262131	NA	SNV	Nonsense	Exon 4	ECD	VUS	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
1096	c.1096G>T	G366*	Inactivating	FHH1 (heterozygous)	122262131	NA	SNV	Nonsense	Exon 4	ECD	VUS	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
1174	c.1174C>T	R392*	Inactivating	NSHPT (homozygous)	122262209	NA	SNV	Nonsense	Exon 4	ECD	VUS/Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1174	c.1174C>T	R392*	Inactivating	NSHPT (homozygous)	122262209	NA	SNV	Nonsense	Exon 4	ECD	VUS/Pathogenic	Ward	2013	23612447	10.1530/EJE-13-0094	Journal article
1178	c.1178C>G	P393R	Inactivating	FHH1 (heterozygous)	122262213	NA	SNV	Missense	Exon 4	ECD	NA	Palmieri	2022	35141253	10.3389/fmed.2021.809067	Journal article
1183	c.1183T>C	C395R	Inactivating	FHH1 (heterozygous)	122262218	rs1057517712	SNV	Missense	Exon 4	ECD	Likely pathogenic	Forde	2014	25320261	10.1136/bcr-2014-206473	Journal article
1183	c.1183T>C	C395R	Inactivating	FHH1	122262218	rs1057517712	SNV	Missense	Exon 4	ECD	Likely pathogenic	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
1183	c.1183T>C	C395R	Inactivating	FHH1 (heterozygous)	122262218	rs1057517712	SNV	Missense	Exon 4	ECD	Likely pathogenic	Vigouroux	2000	10971459	10.1046/j.1365-2265.2000.01042.x	Journal article
1189	c.1189G>A	G397R	Inactivating	FHH1 (heterozygous)	122262224	rs1064794291	SNV	Missense	Exon 4	ECD	VUS	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1189	c.1189G>A	G397R	Inactivating	FHH1 (heterozygous)	122262224	rs1064794291	SNV	Missense	Exon 4	ECD	VUS	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1189	c.1189G>A	G397R	Inactivating	FHH1 (heterozygous)	122262224	rs1064794291	SNV	Missense	Exon 4	ECD	VUS	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1189	c.1189G>A	G397R	Inactivating	FHH1 (heterozygous)	122262224	rs1064794291	SNV	Missense	Exon 4	ECD	VUS	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1199	c.1199A>T	N400I	Inactivating	FHH1 (heterozygous)	122262234	rs576643925	SNV	Missense	Exon 4	ECD	VUS	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
1230	c.1230T>A	D410E	Activating	ADH1	122262265	NA	SNV	Missense	Exon 4	ECD	NA	Choi	2011	NA	Choi 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
1230	c.1230T>A	D410E	Activating	ADH1	122262265	NA	SNV	Missense	Exon 4	ECD	NA	Eom	2011	NA	Eom 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
1230	c.1230T>A	D410E	Activating	ADH1	122262265	NA	SNV	Missense	Exon 4	ECD	NA	Park	2013	23009664	10.1111/cen.12056	Journal article
1244	c.1244G>A	R415Q	Inactivating	FHH1	122262279	rs193922421	SNV	Missense	Exon 4	ECD	Conflicting interpretations of pathogenicity	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1253	c.1253A>G	Y418C	Inactivating	FHH1	122262288	NA	SNV	Missense	Exon 4	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1256	c.1256A>G	N419S	Activating	ADH1	122262291	NA	SNV	Missense	Exon 4	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1258	c.1258G>A	V420M	Inactivating	FHH1	122262293	NA	SNV	Missense	Exon 4	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1263	c.1263C>A	Y421*	Inactivating	FHH1 (heterozygous)	122262298	NA	SNV	Nonsense	Exon 4	ECD	VUS	Espejo	2019	NA	10.1016/j.cca.2019.03.474	Conference abstract
1267	c.1267_1268delinsAA	A423K	Inactivating	FHH1 (heterozygous)	122262302	NA	Small insertion/deletion	Missense	Exon 4	ECD	NA	Livadariu	2011	21566074	10.1530/EJE-11-0121	Journal article
1278	c.1278delC	I427Lfs*35	Inactivating	FHH1 (heterozygous)	122262313	NA	SNV	Frameshift	Exon 4	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
1278	c.1278delC	I427Lfs*35	Inactivating	FHH1 (heterozygous)	122262313	NA	SNV	Frameshift	Exon 4	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
1287	c.1287C>A	H429Q	Inactivating	FHH1 (heterozygous)	122262322	rs746515147	SNV	Missense	Exon 4	ECD	VUS	Park	2022	35586626	10.3389/fendo.2022.853171	Journal article
1288	c.1288G>A	A430T	Inactivating	FHH1	122262323	NA	SNV	Missense	Exon 4	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1289	c.1289C>T	A430V	Inactivating	FHH1	122262324	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1295	c.1295A>G	Q432R	Inactivating	FHH1	122262330	NA	SNV	Missense	Exon 4	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1295	c.1295A>G	Q432R	Inactivating	FHH1	122262330	NA	SNV	Missense	Exon 4	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1297	c.1297G>T	D433Y	Inactivating	FHH1 (heterozygous)	122262332	NA	SNV	Missense	Exon 4	ECD	NA	Magno	2020	32638038	10.1007/s00223-020-00715-1	Journal article
1342	c.1342T>C	S448P	Inactivating	FHH1 (heterozygous)	122262377	NA	SNV	Missense	Exon 4	ECD	NA	Dharmaraj	2020	32150253	10.1210/clinem/dgaa111	Journal article
1342	c.1342T>C	S448P	Inactivating	NSHPT (heterozygous)	122262377	NA	SNV	Missense	Exon 4	ECD	NA	Dharmaraj	2020	32150253	10.1210/clinem/dgaa111	Journal article
1370	c.1370C>T	A457V	Inactivating	FHH1	122262405	rs1553766930	SNV	Missense	Exon 4	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1373	c.1373G>T	W458L	Inactivating	FHH1 (Heterozygous)	122262408	NA	SNV	Missense	Exon 4	ECD	NA	Vishwanath	2012	NA	Vishwanath 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
1376	c.1376A>G	Q459R	Inactivating	FHH1 (heterozygous)	122262411	NA	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Boisen	2020	32160303	10.1210/clinem/dgz205	Journal article
1376	c.1376A>G	Q459R	Inactivating	FHH1 (heterozygous)	122262411	NA	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Lietman	2009	19789209	10.1210/jc.2008-2484	Journal article
1376	c.1376A>G	Q459R	Inactivating	FHH1	122262411	NA	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1376	c.1376A>G	Q459R	Inactivating	FHH1 (homozygous)	122262411	NA	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Szczawinska	2013	NA	Szczawinska 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
1376	c.1376A>G	Q459R	Inactivating	FHH1 (homozygous)	122262411	NA	SNV	Missense	Exon 4	ECD	Pathogenic/Likely pathogenic	Szczawinska	2014	24517148	10.1210/jc.2013-3593	Journal article
1377	c.1377+1G>T	NA	Inactivating	FHH1 (heterozygous)	122262413	NA	SNV	Splice donor	Exon 4-Intron 4 splice site	ECD	NA	Mahajan	2020	31641801	10.1007/s00198-019-05170-9	Journal article
1377	c.1377+1G>T	NA	Inactivating	FHH1	122262413	NA	SNV	Splice donor	Exon 4-Intron 4 splice site	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1378	c.1378-19A>C	Q459fs*130	Inactivating	FHH1	122275793	NA	SNV	Splice acceptor/frameshift	Intron 4-Exon 5 splice site	ECD	NA	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
1378	c.1378-2A>G	Frame shift deletion of exon 5	Inactivating	NSHPT (homozygous)	122275810	NA	SNV	Splice acceptor/frameshift	Intron 4-Exon 5 splice site	ECD	NA	Ahmad	2017	29354167	10.11138/ccmbm/2017.14.3.354	Journal article
1382	c.1382T>C	L461R	Inactivating	FHH1 (heterozygous)	122275816	NA	SNV	Missense	Exon 5	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1392	c.1392_1404del	R465Lfs*9	Inactivating	NSHPT (homozygous)	122275826	NA	Small deletion	Frameshift	Exon 5	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1392	c.1392_1404del	R465Lfs*9	Inactivating	NSHPT (homozygous)	122275826	NA	Small deletion	Frameshift	Exon 5	ECD	NA	Soblechero	2013	23817301	10.1159/000350540	Journal article
1393	c.1393C>T	R465W	Inactivating	FHH1 (heterozygous)	122275827	rs751217000	SNV	Missense	Exon 5	ECD	Conflicting interpretations of pathogenicity	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
1393	c.1393C>T	R465W	Inactivating	FHH1	122275827	rs751217000	SNV	Missense	Exon 5	ECD	Conflicting interpretations of pathogenicity	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1394	c.1394G>A	R465Q	Inactivating	FHH1 (heterozygous)	122275828	rs104893716	SNV	Missense	Exon 5	ECD	Likely pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1394	c.1394G>A	R465Q	Inactivating	FHH1 (heterozygous)	122275828	rs104893716	SNV	Missense	Exon 5	ECD	Likely pathogenic	González-González	2022	NA	10.4321/s1889-836x2022000200001	Journal article
1394	c.1394G>A	R465Q	Inactivating	FHH1 (heterozygous)	122275828	rs104893716	SNV	Missense	Exon 5	ECD	Likely pathogenic	Leech	2006	16598859	10.1016/j.bbrc.2006.02.018	Journal article
1394	c.1394G>A	R465Q	Inactivating	FHH1 (heterozygous)	122275828	rs104893716	SNV	Missense	Exon 5	ECD	Likely pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
1394	c.1394G>A	R465Q	Inactivating	FHH1 (heterozygous)	122275828	rs104893716	SNV	Missense	Exon 5	ECD	Likely pathogenic	Szalat	2017	28176280	10.1007/s12020-017-1241-5	Journal article
1441	c.1441G>A	E481K	Activating	ADH1	122275875	NA	SNV	Missense	Exon 5	ECD	NA	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
1507	c.1507A>G	I503V	Inactivating	FHH1	122275941	rs200910001	SNV	Missense	Exon 5	ECD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1512	c.1512_1515del	F505fs*	Inactivating	FHH1	122275945	rs193922422	Small deletion	Frameshift	Exon 5	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Dong	2020	NA	10.3760/cma.j.cn511374-20191118-00587	Journal article
1525	c.1525G>A	G509R	Inactivating	NSHPT (compound heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Dong	2020	NA	10.3760/cma.j.cn511374-20191118-00587	Journal article
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1525	c.1525G>A	G509R	Inactivating	NSHPT (compound heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Kulkarni	2014	24763815	10.1007/s12098-014-1442-3	Journal article
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Magno	2020	32638038	10.1007/s00223-020-00715-1	Journal article
1525	c.1525G>A	G509R	Inactivating	FHH1 (heterozygous)	122275959	rs193922423	SNV	Missense	Exon 5	ECD	Pathogenic/Likely pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1526	c.1526G>A	G509E	Inactivating	FHH1	122275960	rs1060502845	SNV	Missense	Exon 5	ECD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1542	c.1542T>G	Y514*	NA	NA	122275976	NA	SNV	Missense	Exon 5	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1555	c.1555G>T	E519*	Inactivating	FHH1 (heterozygous)	122275989	NA	SNV	Nonsense	Exon 5	ECD	Pathogenic	Rodrigues	2011	21468522	10.1590/s0004-27302011000100009	Journal article
1555	c.1555G>T	E519*	Inactivating	NSHPT (homozygous)	122275989	NA	SNV	Nonsense	Exon 5	ECD	Pathogenic	Rodrigues	2011	21468522	10.1590/s0004-27302011000100009	Journal article
1557	c.1557_1560del	E519fs*	NA	NA	122275988	NA	Small deletion	Frameshift	Exon 5	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1583	c.1583T>A	I528N	Inactivating	FHH1 (heterozygous)	122276017	NA	SNV	Missense	Exon 5	ECD	NA	Kurnaz	2021	NA	10.1159/000518849	Conference abstract
1588	c.1588T>C	W530R	Inactivating	FHH1 (heterozygous)	122276022	NA	SNV	Missense	Exon 5	ECD	NA	Moumli	2012	NA	Moumli 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
1588	c.1588T>G	W530G	Inactivating	FHH1	122276022	NA	SNV	Missense	Exon 5	ECD	NA	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
1608	c.1608G>T	E536D	Inactivating	FHH1	122276042	NA	SNV	Missense	Exon 5	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1608	c.1608+1G>A	NA	Inactivating	NSHPT (homozygous)	122276043	NA	SNV	Splice donor	Exon 5-Intron 5 splice site	ECD	NA	Capozza	2018	30376845	10.1186/s12887-018-1319-0	Journal article
1608	c.1608+3A>G	77-residue deletion	Inactivating	FHH1 (heterozygous)	122276045	NA	SNV	Splice donor	Exon 5-Intron 5 splice site	ECD	NA	Madhavan	2019	31967040	10.4158/ACCR-2018-0236	Journal article
1608	c.1608+3A>C	Deletion of Exon 5	Inactivating	FHH1	122276045	NA	SNV	Splice donor	Exon 5-Intron 5 splice site	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1608	c.1608+3A>C	Deletion of Exon 5	Inactivating	FHH1	122276045	NA	SNV	Splice donor	Exon 5-Intron 5 splice site	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1609	c.1609-2A>G	NA	NA	NA	122282111	rs761084315	SNV	Splice acceptor	Exon 5-Intron 5 splice site	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1609	c.1609-1G>T	Exon 6 skipping, D578fs*48	Inactivating	FHH1	122282112	NA	SNV	Splice acceptor/frameshift	Intron 5-Exon 6 splice site	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1609	c.1609-1G>T	Exon 6 skipping, D578fs*48	Inactivating	FHH1	122282112	NA	SNV	Splice acceptor/frameshift	Intron 5-Exon 6 splice site	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1624	c.1624T>C	C542R	Inactivating	FHH1	122282128	NA	SNV	Missense	Exon 6	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1625	c.1625G>A	C542Y	Inactivating	FHH1 (heterozygous)	122282129	NA	SNV	Missense	Exon 6	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1630	c.1630C>T	R544*	Inactivating	FHH1 (heterozygous)	122282134	rs886041637	SNV	Nonsense	Exon 6	ECD	Pathogenic	Cetani	2019	NA	Cetani 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
1630	c.1630C>T	R544*	Inactivating	NSHPT (compound heterozygous)	122282134	rs886041637	SNV	Nonsense	Exon 6	ECD	Pathogenic	Kulkarni	2014	24763815	10.1007/s12098-014-1442-3	Journal article
1630	c.1630C>T	R544*	Inactivating	FHH1 (heterozygous)	122282134	rs886041637	SNV	Nonsense	Exon 6	ECD	Pathogenic	Sorapipatcharoen	2020	31883284	10.1111/jpc.14757	Conference abstract
1636	c.1636T>A	C546S	Inactivating	FHH1 (heterozygous)	122282140	NA	SNV	Missense	Exon 6	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
1636	c.1636T>A	C546S	Inactivating	FHH1 (heterozygous)	122282140	NA	SNV	Missense	Exon 6	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
1636	c.1636T>G	C546G	Inactivating	FHH1 (heterozygous)	122282140	NA	SNV	Missense	Exon 6	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1637	c.1637G>C	C546S	Inactivating	FHH1	122282141	NA	SNV	Missense	Exon 6	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1645	c.1645G>A	G549R	Inactivating	FHH1 (heterozygous)	122282149	NA	SNV	Missense	Exon 6	ECD	NA	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
1645	c.1645G>A	G549R	Inactivating	FHH1	122282149	NA	SNV	Missense	Exon 6	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1645	c.1645G>A	G549R	Inactivating	FHH1	122282149	NA	SNV	Missense	Exon 6	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1649	c.1649C>T	T550I	Inactivating	NSHPT (heterozygous)	122282153	NA	SNV	Missense	Exon 6	ECD	NA	Al-Salameh	2011	21566075	10.1530/EJE-11-0141	Journal article
1649	c.1649C>T	T550I	Inactivating	FHH1	122282153	NA	SNV	Missense	Exon 6	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1651	c.1651A>G	R551G	Inactivating	FHH1 (heterozygous)	122282155	NA	SNV	Missense	Exon 6	ECD	NA	Andrade Navarroa	2018	30457731	10.5546/aap.2018.e757	Journal article
1651	c.1651A>G	R551G	Inactivating	FHH1 (heterozygous)	122282155	NA	SNV	Missense	Exon 6	ECD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1651	c.1651A>G	R551G	Inactivating	FHH1 (heterozygous)	122282155	NA	SNV	Missense	Exon 6	ECD	NA	Navarro	2018	30457731	10.5546/aap.2018.e757	Journal article
1651	c.1651A>G	R551G	Inactivating	FHH1 (heterozygous)	122282155	NA	SNV	Missense	Exon 6	ECD	NA	Papadakis	2016	28222409	10.14310/horm.2002.1711	Journal article
1652	c.1652G>A	R551K	Inactivating	FHH1 (heterozygous)	122282156	rs1060502861	SNV	Missense	Exon 6	ECD	Likely pathogenic	Hinnie	2009	20034274	10.1258/rsmsmj.54.4.11	Journal article
1652	c.1652G>A	R551K	Inactivating	NSHPT (compound heterozygous)	122282156	rs1060502861	SNV	Missense	Exon 6	ECD	Likely pathogenic	Tõke	2007	17555508	10.1111/j.1365-2265.2007.02896.x	Journal article
1656	c.1656delA	I554Sfs*73	Inactivating	NSHPT (compound heterozygous)	122282160	NA	Small deletion	Frameshift	Exon 6	ECD	NA	Panova	2021	34111698	10.1016/j.scr.2021.102414	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1657	c.1657G>A	G553R	Inactivating	FHH1 (heterozygous)	122282161	rs104893719	SNV	Missense	Exon 6	ECD	Pathogenic	Schwarz	2000	10885494	10.1080/003655100750044875	Journal article
1661	c.1661T>A	I554N	Inactivating	FHH1	122282165	NA	SNV	Missense	Exon 6	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1661	c.1661T>A	I554N	Inactivating	FHH1 (heterozygous)	122282165	NA	SNV	Missense	Exon 6	ECD	NA	Tsai	2018	NA	Tsai 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
1661	c.1661T>A	I554N	Inactivating	FHH1	122282165	NA	SNV	Missense	Exon 6	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1661	c.1661T>C	I554T	Activating	ADH1	122282165	rs2074897929	SNV	Missense	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1663	c.1663A>G	I555V	Inactivating	FHH1 (heterozygous)	122282167	rs777646067	SNV	Missense	Exon 6	ECD	VUS	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1664	c.1664T>C	I555T	Inactivating	FHH1 (heterozygous)	122282168	rs1576875819	SNV	Missense	Exon 6	ECD	Conflicting interpretations of pathogenicity	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1664	c.1664T>C	I555T	Inactivating	FHH1	122282168	rs1576875819	SNV	Missense	Exon 6	ECD	Conflicting interpretations of pathogenicity	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1664	c.1664T>C	I555T	Inactivating	NSHPT (heterozygous)	122282168	rs1576875819	SNV	Missense	Exon 6	ECD	Conflicting interpretations of pathogenicity	Tonyushkina	2012	22620673	10.1186/1687-9856-2012-13	Journal article
1664	c.1664T>C	I555T	Inactivating	FHH1 (heterozygous)	122282168	rs1576875819	SNV	Missense	Exon 6	ECD	Conflicting interpretations of pathogenicity	Wang	2020	32871939	10.1097/MD.0000000000021940	Journal article
1666	c.1666G>A	E556K	Activating	ADH1	122282170	NA	SNV	Missense	Exon 6	ECD	NA	Livadariu	2011	21566074	10.1530/EJE-11-0121	Journal article
1666	c.1666G>A	E556K	Activating	ADH1	122282170	NA	SNV	Missense	Exon 6	ECD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
1670	c.1670G>A	G557E	Inactivating	FHH1	122282174	rs1576875835	SNV	Missense	Exon 6	ECD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1670	c.1670G>A	G557E	Inactivating	FHH1	122282174	rs1576875835	SNV	Missense	Exon 6	ECD	Likely pathogenic	Nakamura	2001	11762699	10.1385/ENDO:15:3:277	Journal article
1670	c.1670G>A	G557E	Inactivating	FHH1 (Heterozygous)	122282174	rs1576875835	SNV	Missense	Exon 6	ECD	Likely pathogenic	Zajíčková	2020	33094630	10.33549/physiolres.934522	Journal article
1672	c.1672dup	E558fs*	Inactivating	FHH1	122282171	NA	Small insertion	Frameshift	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1673	c.1673A>G	E558G	NA	NA	122282177	rs1553768726	SNV	Missense	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1676	c.1676C>A	P559H	Inactivating	FHH1	122282180	rs193922425	SNV	Missense	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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
1682	c.1682G>C	C561S	Inactivating	FHH1	122282186	NA	SNV	Missense	Exon 6	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1685	c.1685G>A	C562Y	Inactivating	FHH1 (heterozygous)	122282189	NA	SNV	Missense	Exon 6	ECD	NA	Burski	2002	11889154	10.1210/jcem.87.3.8304	Journal article
1685	c.1685G>A	C562Y	Inactivating	FHH1 (heterozygous)	122282189	NA	SNV	Missense	Exon 6	ECD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1685	c.1685G>A	C562Y	Inactivating	FHH1	122282189	NA	SNV	Missense	Exon 6	ECD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1685	c.1685_1686delinsCT	C562S	NA	NA	122282189	rs193922427	Small insertion/deletion	Missense	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
1685	c.1685G>C	C562S	Inactivating	FHH1	122282189	rs193922426	SNV	Missense	Exon 6	ECD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1693	c.1693T>G	C565G	Inactivating	FHH1	122282197	rs1559967708	SNV	Missense	Exon 6	ECD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1697	c.1697_1698delTG	V566Gfs*4	Inactivating	FHH1	122282201	NA	Small deletion	Frameshift	Exon 6	ECD	NA	Cordes	2016	27926951	10.1055/s-0042-120415	Journal article
1703	c.1703G>A	C568Y	Inactivating	FHH1 (heterozygous)	122282207	NA	SNV	Missense	Exon 6	ECD	VUS	Gunganah	2014	25045523	10.1530/EDM-14-0050	Journal article
1703	c.1703G>A	C568Y	Inactivating	FHH1	122282207	NA	SNV	Missense	Exon 6	ECD	VUS	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
1706	c.1706C>A	P569H	Activating	ADH1	122282210	NA	SNV	Missense	Exon 6	ECD	NA	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
1706	c.1706C>A	P569H	Activating	ADH1	122282210	NA	SNV	Missense	Exon 6	ECD	NA	Nakamura	2013	23966241	10.1210/jc.2013-1974	Journal article
1709	c.1709A>G	D570G	Inactivating	FHH1	122282213	NA	SNV	Missense	Exon 6	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1711	c.1711G>T	G571W	Inactivating	FHH1 (heterozygous)	122282215	NA	SNV	Missense	Exon 6	ECD	NA	Kim	2015	26386835	10.1007/s00774-015-0713-z	Journal article
1718	c.1718A>G	Y573C	Inactivating	FHH1 (heterozygous)	122282222	NA	SNV	Missense	Exon 6	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1719	c.1719T>A	Y573*	Inactivating	FHH1 (heterozygous)	122282223	NA	SNV	Nonsense	Exon 6	ECD	NA	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1719	c.1719T>A	Y573*	Inactivating	FHH1 (heterozygous)	122282223	NA	SNV	Nonsense	Exon 6	ECD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1719	c.1719T>A	Y573*	Inactivating	FHH1 (heterozygous)	122282223	NA	SNV	Nonsense	Exon 6	ECD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1733	c.1733-255_2450del	Shorter protein due to affected exon 7 splice site	Inactivating	FHH1 (heterozygous)	122283432	NA	CNV	Deletion	Intron 6-Exon 7	ECD	NA	García-Castaño	2018	30530875	10.1530/EDM-18-0114	Journal article
1740	c.1740T>A	S580R	Inactivating	FHH1 (heterozygous)	122283694	NA	SNV	Missense	Exon 7	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
1740	c.1740T>A	S580R	Inactivating	FHH1 (heterozygous)	122283694	NA	SNV	Missense	Exon 7	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
1744	c.1744T>C	C582R	Inactivating	FHH1	122283698	NA	SNV	Missense	Exon 7	ECD	NA	Joseph	2022	NA	https://jme.bioscientifica.com/abstract/journals/jme/69/1/JME-21-0263.xml	Journal article
1744	c.1744T>A	C582S	NA	NA	122283698	rs2074920676	SNV	Missense	Exon 7	ECD	Likely pathogenic	Clinvar	NA	NA	https://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
1745	c.1745G>A	C582Y	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1745	c.1745G>T	C582F	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1745	c.1745G>A	C582Y	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1745	c.1745G>T	C582F	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1745	c.1745G>T	C582F	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1745	c.1745G>T	C582F	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1745	c.1745G>A	C582Y	Inactivating	NSHPT (compound heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Leunbach	2021	33748353	10.1016/j.bonr.2021.100761	Journal article
1745	c.1745G>A	C582Y	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1745	c.1745G>T	C582F	Inactivating	FHH1 (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1745	c.1745G>A	C582Y	Inactivating	NSHPT (heterozygous)	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
1745	c.1745G>A	C582Y	Inactivating	FHH1	122283699	rs104893690	SNV	Missense	Exon 7	ECD	Pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1746	c.1746_1747insT	N583*	Inactivating	FHH1	122283700	NA	Small insertion	Nonsense	Exon 7	ECD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1746	c.1746_1747insT	N583*	Inactivating	FHH1	122283700	NA	Small insertion	Nonsense	Exon 7	ECD	VUS	Pidasheva	2006	16740594	10.1093/hmg/ddl145	Journal article
1750	c.1750A>T	K584*	Inactivating	FHH1 (heterozygous)	122283704	rs1057523748	SNV	Missense	Exon 7	ECD	VUS/Likely pathogenic	Hans	2022	NA	Hans SK, Levine SN. A previously unreported mutation of the calcium sensing receptor causing familial hypocalciuric hypercalcemia. Endocrine Reviews. 2017;38(3)	Conference abstract
1754	c.1754G>T	C585F	Inactivating	FHH1	122283708	NA	SNV	Missense	Exon 7	ECD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1754	c.1754G>T	C585F	Inactivating	FHH1	122283708	NA	SNV	Missense	Exon 7	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1759	c.1759dup	D587fs*	NA	NA	122283712	NA	Small insertion	Frameshift	Exon 7	ECD	Pathogenic	Clinvar	NA	NA	https://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
1772	c.1772C>G	S591C	Inactivating	FHH1	122283726	NA	SNV	Missense	Exon 7	ECD	NA	Nyweide	2006	17110864	10.1097/01.pec.0000238747.19477.d3	Journal article
1772	c.1772C>G	S591C	Inactivating	FHH1	122283726	NA	SNV	Missense	Exon 7	ECD	NA	Taki	2015	26019872	10.1530/EDM-15-0016	Journal article
1781	c.1781A>C	N594T	Inactivating	FHH1	122283735	NA	SNV	Missense	Exon 7	ECD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1783	c.1783del	H595fs*	NA	NA	122283736	NA	Small deletion	Frameshift	Exon 7	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1782	c.1782C>T	H595Y	Inactivating	FHH1 (heterozygous)	122283736	NA	SNV	Missense	Exon 7	ECD	NA	Cetani	2009	19073830	10.1530/EJE-08-0798	Journal article
1801	c.1801A>C	K601Q	Inactivating	FHH1 (heterozygous)	122283755	NA	SNV	Missense	Exon 7	ECD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
1801	c.1801A>C	K601Q	Inactivating	FHH1 (heterozygous)	122283755	NA	SNV	Missense	Exon 7	ECD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
1802	c.1802del	K601fs*	NA	NA	122283755	NA	Small deletion	Frameshift	Exon 7	ECD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1803	c.1803G>C	K601N	Inactivating	FHH1	122283757	NA	SNV	Missense	Exon 7	ECD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Álvarez-Hernández	2003	14519094	10.1677/jme.0.0310255	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Iglesias	2006	17043292	10.1136/jnnp.2006.097162	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Schmidt	2018	30276462	10.1007/s00423-018-1711-0	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Tan	2003	12574188	10.1210/jc.2002-020081	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1810	c.1810G>A	E604K	Activating	ADH1	122283764	rs104893712	SNV	Missense	Exon 7	ECD	Pathogenic	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
1817	c.1817T>C	L606P	Inactivating	NSHPT (homozygous)	122283771	NA	SNV	Missense	Exon 7	ECD	VUS	Wejaphikul	2023	36626889	10.1159/000528568	Journal article
1820	c.1820C>A	S607*	Inactivating	FHH1 (heterozygous)	122283774	NA	SNV	Nonsense	Exon 7	ECD	VUS	Pearce	1995	8675635	10.1172/JCI118335	Journal article
1829	c.1829A>G	E610G	Activating	ADH1	122283783	NA	SNV	Missense	Exon 7	ECD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1835	c.1835C>T	F612S	Activating	ADH1	122283789	rs104893698	SNV	Missense	Exon 7	ECD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
1835	c.1835C>T	F612S	Activating	ADH1	122283789	rs104893698	SNV	Missense	Exon 7	ECD	Pathogenic	Pearce	1996	8813042	10.1056/NEJM199610103351505	Journal article
1836	c.1836G>A	G613E	Inactivating	NSHPT (homozygous)	122283790	NA	SNV	Missense	Exon 7	TMD	NA	Gulcan-Kersin	2020	33147586	10.1159/000510623	Journal article
1836	c.1836delT	F612fs*15	Inactivating	FHH1 (heterozygous)	122283790	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1837	c.1837G>C	G613R	Inactivating	FHH1 (heterozygous)	122283791	rs1060502842	SNV	Missense	Exon 7	TMD	VUS/Likely pathogenic	Rasmussen	2011	22142470	10.1186/1752-1947-5-564	Journal article
1846	c.1846C>G	L616V	Activating	ADH1	122283800	rs104893703	SNV	Missense	Exon 7	TMD	Pathogenic	Stock	1999	10487661	10.1210/jcem.84.9.5977	Journal article
1849	c.1849del	T627fs*	NA	NA	122283803	rs1553768938	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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
1852	c.1852del	L618fs*	NA	NA	122283804	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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
1855	c.1855_1857delTT	L618fs*81	Inactivating	FHH1	122283809	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous, neonatal)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Braun	2010	PMC7102049	10.1007/s00467-010-1577-z	Conference abstract
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous, neonatal)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Braun	2010	22001932	10.1159/000321348	Conference abstract
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1868	c.1868G>A	G623D	Inactivating	FHH1 (heterozygous)	122283822	NA	SNV	Missense	Exon 7	TMD	VUS	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
1868	c.1868del	G623fs*	NA	NA	122283820	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1884	c.1884del	F629fs*	Inactivating	FHH1	122283837	rs193922429	Small deletion	Frameshift	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1898	c.1898_1932dup	A645fs*	NA	NA	122283850	rs2074924614	Small insertion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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
1901	c.1901T>C	F634S	Inactivating	FHH1	122283855	NA	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1901	c.1901T>C	F634S	Inactivating	FHH1	122283855	NA	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1913	c.1913G>T	R638L	Inactivating	FHH1 (heterozygous)	122283867	rs201852643	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Corrado	2015	25828954	10.1002/jbmr.2516	Journal article
1913	c.1913G>T	R638L	Inactivating	NSHPT (compound heterozygous)	122283867	rs201852643	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Corrado	2015	25828954	10.1002/jbmr.2516	Journal article
1913	c.1913dup	N639fs*	NA	NA	122283866	rs1576877163	Small insertion	Frameshift	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1919	c.1919C>T	T640I	Inactivating	FHH1	122283873	rs1559968450	SNV	Missense	Exon 7	TMD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1919	c.1919C>T	T640I	Inactivating	FHH1	122283873	rs1559968450	SNV	Missense	Exon 7	TMD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1929	c.1929_1930delGT	F644Yfs*73	Inactivating	FHH1 (heterozygous)	122283883	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
1934	c.1934C>A	A645D	Inactivating	FHH1 (heterozygous)	122283888	rs193922430	SNV	Missense	Exon 7	TMD	Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
1942	c.1942C>T	R648*	Inactivating	NSHPT (compound heterozygous)	122283896	rs104893705	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Edouard	2013	NA	Edouard 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
1942	c.1942C>T	R648*	Inactivating	FHH1 (heterozygous)	122283896	rs104893705	SNV	Missense	Exon 7	TMD	VUS/Pathogenic	Jap	2001	11231970	10.1210/jcem.86.1.7149	Journal article
1942	c.1942C>T	R648*	Inactivating	FHH1	122283896	rs104893705	SNV	Missense	Exon 7	TMD	VUS/Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1942	c.1942C>T	R648*	Inactivating	FHH1	122283896	rs104893705	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
1942	c.1942C>T	R648*	Inactivating	NSHPT (compound heterozygous)	122283896	rs104893705	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Ward	2004	15292296	10.1210/jc.2003-031653	Journal article
1942	c.1942C>T	R648*	Inactivating	FHH1 (heterozygous)	122283896	rs104893705	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Yamauchi	2002	12469911	10.1359/jbmr.2002.17.12.2174	Journal article
1949	c.1949T>C	L650P	Inactivating	FHH1 (heterozygous)	122283903	NA	SNV	Missense	Exon 7	TMD	NA	Warner	2004	14985373	10.1136/jmg.2003.016725	Journal article
1952	c.1952_1966del	S651_L655del	Inactivating	FHH1 (heterozygous)	122283906	NA	SNV	Missense	Exon 7	TMD	NA	Monastiri	2010	NA	10.1159/000321348	Conference abstract
1952	c.1952_1966del	S651_L655del	Inactivating	FHH1 (heterozygous)	122283906	NA	Small deletion	Deletion	Exon 7	TMD	NA	Sfar	2012	21667241	10.1007/s11033-011-0990-0	Journal article
1952	c.1952_1966del	S651_L655del	Inactivating	NSHPT (homozygous)	122283906	NA	Small deletion	Deletion	Exon 7	TMD	NA	Sfar	2012	21667241	10.1007/s11033-011-0990-0	Journal article
1963	c.1963_1965delCTC	L655del	Inactivating	FHH1	122283917	NA	Small deletion	Deletion	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
1963	c.1963_1965delCTC	L655del	Inactivating	FHH1	122283917	NA	Small deletion	Deletion	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1970	c.1970C>G	S657C	Activating	ADH1	122283924	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
1970	c.1970C>G	S657C	Activating	ADH1	122283924	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
1972	c.1972del	L658fs*	NA	NA	122283924	rs1553768972	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
1982	c.1982G>A	C661Y	Inactivating	FHH1	122283936	NA	SNV	Missense	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
1983	c.1983C>G	C661W	Inactivating	FHH1	122283937	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
1997	c.1997_1998insT	L656fs*42	Inactivating	FHH1 (heterozygous)	122283951	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
1997	c.1997_1998insT	L656fs*42	Inactivating	FHH1 (heterozygous)	122283951	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
1997	c.1997_1998insT	L656fs*42	Inactivating	FHH1 (heterozygous)	122283951	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
1997	c.1997_1998insT	L656fs*42	Inactivating	FHH1 (heterozygous)	122283951	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1 (heterozygous)	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1 (heterozygous)	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1 (heterozygous)	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
2008	c.2009G>A	G670E	Inactivating	NSHPT (compound heterozygous)	122283963	rs104893700	SNV	Missense	Exon 7	TMD	Pathogenic	Kobayashi	1997	9253359	10.1210/jcem.82.8.4135	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1 (heterozygous)	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2008	c.2008G>A	G670R	Inactivating	FHH1 (heterozygous)	122283962	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
2008	c.2008G>C	G670R	NA	NA	122283962	NA	SNV	Missense	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2010	c.2010_2011del	E681fs*	NA	NA	122283962	rs2074927630	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2013	c.2013G>C	E671D	Inactivating	FHH1 (homozygous)	122283967	NA	SNV	Missense	Exon 7	TMD	NA	Borsari	2017	28620806	10.1007/s40618-017-0710-2	Journal article
2013	c.2013G>C	E671D	Inactivating	FHH1 (heterozygous)	122283967	NA	SNV	Missense	Exon 7	TMD	NA	Cetani	2019	NA	Cetani 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
2014	c.2014C>A	P672T	Inactivating	FHH1	122283968	rs193922431	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2024	c.2024G>A	W675*	Inactivating	FHH1	122283978	NA	SNV	Nonsense	Exon 7	TMD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2029	c.2029dup	C677Lfs*31	Inactivating	FHH1	122283983	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2029	c.2029dup	C677Lfs*31	Inactivating	FHH1	122283983	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2030	c.2030G>A	C677Y	Inactivating	FHH1 (heterozygous)	122283984	NA	SNV	Missense	Exon 7	TMD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2030	c.2030del	C677fs*	Inactivating	FHH1	122283984	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
2033	c.2033G>A	R678H	Inactivating	FHH1	122283987	rs1278025825	SNV	Missense	Exon 7	TMD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2036	c.2036T>C	L679P	Inactivating	FHH1	122283990	rs1553768983	SNV	Missense	Exon 7	TMD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2038	c.2038C>G	R680G	Activating	ADH1	122283992	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
2038	c.2038C>T	R680C	Inactivating	NSHPT (compound heterozygous)	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2038	c.2038C>T	R680C	Inactivating	NSHPT (homozygous)	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Hassan	2021	34887979	10.11604/pamj.2021.40.105.29527	Journal article
2038	c.2038C>T	R680C	Inactivating	FHH1	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2038	c.2038C>A	R680S	Inactivating	FHH1	122283992	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2038	c.2038C>T	R680C	Inactivating	FHH1	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2038	c.2038C>T	R680C	Inactivating	FHH1	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2038	c.2038C>T	R680C	Inactivating	FHH1 (heterozygous)	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
2038	c.2038C>T	R680C	Inactivating	NSHPT (compound heterozygous)	122283992	rs767363250	SNV	Missense	Exon 7	TMD	Likely pathogenic	Waller	2004	15241688	10.1007/s00431-004-1491-0	Journal article
2039	c.2039G>A	R680H	Inactivating	NSHPT (homozygous)	122283993	rs773146939	SNV	Missense	Exon 7	TMD	Likely pathogenic	Haider	2022	NA	10.1159/000518849	Conference abstract
2039	c.2039G>A	R680H	Inactivating	FHH1 (heterozygous)	122283993	rs773146939	SNV	Missense	Exon 7	TMD	Likely pathogenic	Kurian	2021	34993031	10.7759/cureus.20057	Journal article
2039	c.2039G>A	R680H	Inactivating	FHH1	122283993	rs773146939	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2039	c.2039G>A	R680H	Inactivating	FHH1	122283993	rs773146939	SNV	Missense	Exon 7	TMD	Likely pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2039	c.2039G>A	R680H	Inactivating	FHH1	122283993	rs773146939	SNV	Missense	Exon 7	TMD	Likely pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2042	c.2042A>G	Q681R	Activating	ADH1	122283996	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Guarnieri	2012	22789683	10.1016/j.ymgme.2012.06.012	Journal article
2042	c.2042A>G	Q681R	Activating	ADH1	122283996	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Mazurek	2022	NA	10.1016/j.eprac.2022.03.234	Journal article
2043	c.2043G>T	Q681H	Activating	ADH1	122283997	rs121909261	SNV	Missense	Exon 7	TMD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2043	c.2043G>T	Q681H	Activating	ADH1	122283997	rs121909261	SNV	Missense	Exon 7	TMD	Pathogenic	Baron	1996	8733126	10.1093/hmg/5.5.601	Journal article
2045	c.2045C>T	P682L	Inactivating	NSHPT (compound heterozygous)	122283999	rs1553768989	SNV	Missense	Exon 7	TMD	VUS	Leunbach	2021	33748353	10.1016/j.bonr.2021.100761	Journal article
2048	c.2048C>A	A683D	Inactivating	FHH1	122284002	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2054	c.2054G>T	G685V	Inactivating	NSHPT (homozygous)	122284008	NA	SNV	Missense	Exon 7	TMD	NA	Alqadi	2018	32289793	10.1159/000492307	Conference abstract
2054	c.2054G>C	G685A	Inactivating	FHH1 (heterozygous)	122284008	rs1576877377	SNV	Missense	Exon 7	TMD	VUS	Saba	2017	NA	10.1159/000481424	Conference abstract
2065	c.2065G>A	V689M	Inactivating	FHH1 (heterozygous)	122284019	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2065	c.2065G>A	V689M	Inactivating	FHH1 (heterozygous)	122284019	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Sharma	2020	32843465	10.1136/bcr-2020-237036	Journal article
2065	c.2065G>A	V689M	Inactivating	FHH1 (heterozygous)	122284019	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Warner	2004	14985373	10.1136/jmg.2003.016725	Journal article
2069	c.2069T>G	L690R	Inactivating	FHH1	122284023	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2072	c.2072G>A	C691Y	Inactivating	FHH1	122284026	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2078	c.2078C>T	S693L	Inactivating	FHH1	122284032	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2083	c.2083_2106dup	I695_V702dup	Inactivating	FHH1	122284037	NA	Small insertion	Small insertion	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2086	c.2086C>G	L696V	Activating	ADH1	122284040	NA	SNV	Missense	Exon 7	TMD	NA	Gomes	2020	32513763	10.1136/bcr-2020-234391	Journal article
2086	c.2086C>G	L696V	Activating	ADH1	122284040	NA	SNV	Missense	Exon 7	TMD	NA	Silvestre	2018	NA	Silvestre CF, Carvalho MR, Bugalho MJ. Familial hypoparathyroidism: A novel casr gene mutation. Endocrine Reviews. 2018;39(2).	Conference abstract
2089	c.2089G>A	V697M	Inactivating	FHH1 (heterozygous)	122284043	NA	SNV	Missense	Exon 7	TMD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2089	c.2089G>A	V697M	Inactivating	FHH1 (heterozygous)	122284043	NA	SNV	Missense	Exon 7	TMD	NA	López	2012	21643651	10.1007/s00431-011-1504-8	Journal article
2089	c.2089G>A	V697M	Inactivating	FHH1	122284043	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2096	c.2096C>A	T699N	Inactivating	FHH1 (heterozygous)	122284050	NA	SNV	Missense	Exon 7	TMD	NA	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
2096	c.2096C>A	T699N	Inactivating	FHH1 (heterozygous)	122284050	NA	SNV	Missense	Exon 7	TMD	NA	Mullin	2022	35356007	10.1210/jendso/bvac025	Journal article
2097	c.2097del	N700fs*	NA	NA	122284050	rs1576877427	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2101	c.2101delC	R701fs*	Inactivating	FHH1 (heterozygous)	122284055	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2101	c.2101C>G	R701G	Inactivating	FHH1 (heterozygous)	122284055	NA	SNV	Missense	Exon 7	TMD	NA	Mullin	2022	35356007	10.1210/jendso/bvac025	Journal article
2102	c.2102G>C	R701P	Inactivating	FHH1 (heterozygous)	122284056	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2120	c.2120A>T	E707V	Inactivating	FHH1 (heterozygous)	122284074	NA	SNV	Missense	Exon 7	TMD	NA	Quaglia	2012	NA	10.1093/ndt/gfs201	Conference abstract
2120	c.2120A>T	E707V	Inactivating	FHH1 (heterozygous)	122284074	NA	SNV	Missense	Exon 7	TMD	NA	Strata	2014	25104082	10.1093/ndt/gfu065	Journal article
2146	c.2146C>T	R716C	Inactivating	FHH1 (heterozygous)	122284100	NA	SNV	Missense	Exon 7	TMD	NA	Ghazvani	2016	27957351	10.1155/2016/2725486	Journal article
2148	c.2148dup	K717fs*	NA	NA	122284101	NA	Small insertion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2154	c.2154G>A	W718*	Inactivating	FHH1 (heterozygous)	122284108	NA	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Frank-Raue	2011	21521328	10.1111/j.1365-2265.2011.04059.x	Journal article
2154	c.2154G>A	W718*	Inactivating	FHH1	122284108	NA	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2154	c.2154G>A	W718*	Inactivating	FHH1	122284108	NA	SNV	Nonsense	Exon 7	TMD	VUS/Pathogenic	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
2154	c.2154delinsCC	W718fs*	NA	NA	122284108	rs1064793353	Small insertion/deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2156	c.2156G>A	W719*	Inactivating	FHH1	122284110	NA	SNV	Nonsense	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2165	c.2165A>G	N722S	Activating	ADH1	122284119	NA	SNV	Missense	Exon 7	TMD	NA	Schoutteten	2017	28741586	NA	Journal article
2165	c.2165del	N722fs*	NA	NA	122284118	rs1559968729	Small deletion	Frameshift	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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
2168	c.2168T>A	L723Q	Activating	ADH1 in mouse	122284122	NA	SNV	Missense	Exon 7	TMD	NA	Hough	2004	15347804	10.1073/pnas.0405516101	Journal article
2180	c.2180T>A	L727Q	Activating	ADH1	122284134	rs104893718	SNV	Missense	Exon 7	TMD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2180	c.2180T>A	L727Q	Activating	ADH1	122284134	rs104893718	SNV	Missense	Exon 7	TMD	Pathogenic	Mittleman	2006	16608894	10.1210/jc.2005-2605	Journal article
2182	c.2182G>A	V728F	Inactivating	FHH1 (heterozygous)	122284136	NA	SNV	Missense	Exon 7	TMD	NA	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
2182	c.2182G>A	V728F	Inactivating	FHH1 (heterozygous)	122284136	NA	SNV	Missense	Exon 7	TMD	NA	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
2182	c.2182G>T	V728F	Inactivating	FHH1 (heterozygous)	122284136	NA	SNV	Missense	Exon 7	TMD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
2182	c.2182G>A	V728F	Inactivating	FHH1 (heterozygous)	122284136	NA	SNV	Missense	Exon 7	TMD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2201	c.2201T>G	M734R	Inactivating	FHH1	122284155	NA	SNV	Missense	Exon 7	TMD	NA	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2201	c.2201T>G	M734R	Inactivating	FHH1	122284155	NA	SNV	Missense	Exon 7	TMD	NA	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
2201	c.2201T>C	M734T	Activating	ADH1	122284155	NA	SNV	Missense	Exon 7	TMD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
2203	c.2203C>A	Q735K	Inactivating	FHH1	122284157	rs1553769052	SNV	Missense	Exon 7	TMD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2204	c.2204A>C	Q735P	Activating	ADH1	122284158	NA	SNV	Missense	Exon 7	TMD	NA	Wong	2011	21471599	https://www.hkmj.org/abstracts/v17n2/157.htm	Journal article
2217	c.2217T>A	C739*	Inactivating	NSHPT (compound heterozygous)	122284171	NA	SNV	Missense	Exon 7	TMD	VUS	Panova	2021	34111698	10.1016/j.scr.2021.102414	Journal article
2224	c.2224T>C	W742R	Inactivating	FHH1 (heterozygous)	122284178	NA	SNV	Missense	Exon 7	TMD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
2224	c.2224T>C	W742R	Inactivating	FHH1 (heterozygous)	122284178	NA	SNV	Missense	Exon 7	TMD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2228	c.2228T>C	L743P	Inactivating	FHH1	122284182	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2237	c.2237C>T	A746P	Inactivating	FHH1	122284191	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2239	c.2239_2240delinsT	P747fs*28	Inactivating	NSHPT (homozygous)	122284193	NA	Small deletoin/insertion	Missense	Exon 7	TMD	NA	Pearce	1995	8675635	10.1172/JCI118335	Journal article
2240	c.2240C>T	P747L	Inactivating	FHH1	122284194	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2242	c.2242C>T	P748S	Inactivating	FHH1 (heterozygous)	122284196	rs2074934184	SNV	Missense	Exon 7	TMD	VUS	Cetani	2009	19073830	10.1530/EJE-08-0798	Journal article
2243	c.2243C>G	P748R	Inactivating	FHH1 (heterozygous)	122284197	rs193922433	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Arshad	2021	32892159	10.1136/postgradmedj-2020-137718	Journal article
2243	c.2243C>G	P748R	Inactivating	FHH1 (heterozygous)	122284197	rs193922433	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2243	c.2243C>T	P748L	Inactivating	FHH1 (heterozygous)	122284197	rs193922433	SNV	Missense	Exon 7	TMD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2243	c.2243C>G	P748R	Inactivating	FHH1	122284197	rs193922433	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2243	c.2243C>A	P748H	Inactivating	FHH1	122284197	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2243	c.2243C>G	P748R	Inactivating	FHH1	122284197	rs193922433	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2243	c.2243C>G	P748R	Inactivating	FHH1	122284197	rs193922433	SNV	Missense	Exon 7	TMD	Conflicting interpretations of pathogenicity	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2244	c.2244delinsC	S749fs*	NA	NA	122284198	rs1553769059	Small insertion/deletion	Frameshift	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://www.ncbi.nlm.nih.gov/snp/rs1553769059/#clinical_significance	Clinvar
2254	c.2254C>T	R752C	Inactivating	FHH1 (heterozygous)	122284208	rs193922434	SNV	Missense	Exon 7	TMD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2254	c.2254del	R752fs*	NA	NA	122284207	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2269	c.2269G>A	E757K	Activating	ADH1	122284223	rs2074935149	SNV	Missense	Exon 7	TMD	VUS	Gomes	2020	32513763	10.1136/bcr-2020-234391	Journal article
2269	c.2269G>A	E757K	Activating	ADH1	122284223	rs2074935149	SNV	Missense	Exon 7	TMD	VUS	Kwan	2018	30306783	10.1530/EDM-18-0107	Journal article
2279	c.2279T>A	I760N	Inactivating	FHH1 (heterozygous)	122284233	NA	SNV	Missense	Exon 7	TMD	NA	Wu	2017	28690912	10.1038/boneres.2017.1	Journal article
2281	c.2281_2283delATG	I761del	Inactivating	FHH1	122284235	NA	Small deletion	Deletion	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2282	c.2282T>A	I761N	Inactivating	FHH1 (heterozygous)	122284236	NA	SNV	Missense	Exon 7	TMD	NA	Bhangu	2018	30554440	10.1002/hed.25568	Journal article
2282	c.2282T>A	I761N	Inactivating	FHH1 (heterozygous)	122284236	NA	SNV	Missense	Exon 7	TMD	NA	Bhangu	2022	35242665	10.21037/gs-21-577	Journal article
2293	c.2293T>C	C765R	Inactivating	FHH1 (heterozygous)	122284247	rs1363412937	SNV	Missense	Exon 7	TMD	VUS	Dixit	2011	21369680	10.2340/00015555-1054	Journal article
2295	c.2295C>G	C765W	Inactivating	FHH1 (heterozygous)	122284249	NA	SNV	Missense	Exon 7	TMD	VUS	Cetani	2009	19073830	10.1530/EJE-08-0798	Journal article
2297	c.2297_2298dup	E767fs*	NA	NA	122284249	NA	Small insertion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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
2299	c.2299G>A	E767K	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Gómez-Martín	2023	36609127	10.1016/j.ando.2022.12.001	Journal article
2299	c.2299G>A	E767K	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2299	c.2299G>C	E767K	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2299	c.2299G>A	E767K	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2299	c.2299G>C	E767Q	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Letz	2010	20668040	10.1210/jc.2010-0651	Journal article
2299	c.2299G>A	E767K	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Uçkun-Kitapçi	2005	15551332	10.1002/ajmg.a.30403	Journal article
2299	c.2299G>C	E767Q	Activating	ADH1	122284253	NA	SNV	Missense	Exon 7	TMD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
2303	c.2303G>T	G768V	Inactivating	NSHPT (homozygous)	122284257	rs201858689	SNV	Missense	Exon 7	TMD	VUS	Diaz-Thomas	2011	24854525	10.1515/jpem-2013-0343	Journal article
2303	c.2303G>T	G768V	Inactivating	NSHPT (homozygous)	122284257	rs201858689	SNV	Missense	Exon 7	TMD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2318	c.2318T>G	L773R	Activating	ADH1	122284272	rs104893699	SNV	Missense	Exon 7	TMD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2319	c.2319delG	L773fs*	Inactivating	NSHPT (homozygous)	122284273	NA	SNV	Missense	Exon 7	TMD	NA	Sadacharan	2020	32699790	10.4103/ijem.IJEM_53_20	Journal article
2320	c.2320G>A	G774S	Inactivating	FHH1 (heterozygous)	122284274	NA	SNV	Missense	Exon 7	TMD	NA	Quaglia	2012	NA	10.1093/ndt/gfs201	Conference abstract
2320	c.2320G>A	G774S	Inactivating	FHH1 (heterozygous)	122284274	NA	SNV	Missense	Exon 7	TMD	NA	Strata	2014	25104082	10.1093/ndt/gfu065	Journal article
2331	c.2331_2332insAGC	I777_G778insS	Inactivating	FHH1	122284285	NA	Small inserion	Insertion	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2332	c.2332G>C	G778R	Inactivating	FHH1 (heterozygous)	122284286	rs1479933693	SNV	Missense	Exon 7	TMD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2332	c.2332G>C	G778R	Inactivating	FHH1	122284286	rs1479933693	SNV	Missense	Exon 7	TMD	VUS	Khairi	2020	32761341	10.1007/s12672-020-00394-2	Journal article
2332	c.2332G>C	G778R	Inactivating	FHH1	122284286	rs1479933693	SNV	Missense	Exon 7	TMD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2333	c.2333G>A	G778D	Inactivating	FHH1	122284287	rs2074936560	SNV	Missense	Exon 7	TMD	VUS	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2333	c.2333G>A	G778D	Inactivating	FHH1 (heterozygous)	122284287	rs2074936560	SNV	Missense	Exon 7	TMD	VUS	Ward	2006	16649980	10.1111/j.1365-2265.2006.02512.x	Journal article
2335	c.2335T>C	Y779H	Inactivating	FHH1	122284289	NA	SNV	Missense	Exon 7	TMD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2351	c.2351C>T	A784V	Activating	ADH1	122284305	NA	SNV	Missense	Exon 7	TMD	NA	van Megan	2022	35313217	10.1016/j.ebiom.2022.103947	Journal article
2351	c.2351C>T	A784V	Activating	ADH1	122284305	NA	SNV	Missense	Exon 7	TMD	NA	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
2362	c.2362T>C	F788L	Inactivating	FHH1 (heterozygous)	122284316	rs104893711	SNV	Missense	Exon 7	TMD	Pathogenic	Hendy	2023	12915654	10.1210/jc.2003-030409	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Abbas	2022	NA	10.1016/j.eprac.2022.03.235	Conference abstract
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Elston	2022	35402765	10.1210/jendso/bvac042	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Kamiyoshi	2015	26323216	10.1007/s10157-015-1160-9	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Mora	2005	16333828	10.1002/ajmg.a.31054	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Rossi	2019	31763346	10.1177/2329048X19876199	Journal article
2363	c.2363T>G	F788C	Activating	ADH1	122284317	rs104893701	SNV	Missense	Exon 7	TMD	Pathogenic	Watanabe	1998	9661634	10.1210/jcem.83.7.4920	Journal article
2364	c.2364delC	Y789fs*	Inactivating	NSHPT (homozygous)	122284318	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Gupta	2022	35380381	10.1007/s12098-022-04169-1	Journal article
2367	c.2367_2369del	F789del	Inactivating	FHH1 (heterozygous)	122284321	NA	Small deletion	Deletion	Exon 7	TMD	NA	Ubetagoyena Arrieta	2011	NA	10.1016/j.anpedi.2010.10.001	Journal article
2371	c.2371G>C	A791P	Inactivating	FHH1 (heterozygous)	122284325	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2383	c.2383delC	R795Gfs*42	Inactivating	FHH1 (heterozygous)	122284337	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
2383	c.2383delC	R795Gfs*42	Inactivating	FHH1 (heterozygous)	122284337	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1 (heterozygous)	122284337	rs121909258	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1	122284337	rs121909258	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
2383	c.2383delC	R795Gfs*42	Inactivating	FHH1 (heterozygous)	122284337	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
2383	c.2383delC	R795Gfs*42	Inactivating	FHH1 (heterozygous)	122284337	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1 (heterozygous)	122284337	rs121909258	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Konijnenberg	2012	NA	10.1007/s00467-012-2232-7	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1 (heterozygous)	122284337	NA	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2383	c.2383delC	R795Gfs*42	Inactivating	FHH1 (heterozygous)	122284337	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1 (heterozygous)	122284337	rs121909258	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Pollak	1993	7916660	10.1016/0092-8674(93)90617-y	Journal article
2383	c.2383C>T	R795W	Inactivating	FHH1	122284337	rs121909258	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2384	c.2384G>A	R795Q	Inactivating	FHH1	122284338	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2384	c.2384G>C	R795P	Inactivating	FHH1	122284338	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2386	c.2386A>T	K796*	Inactivating	FHH1	122284340	NA	SNV	Nonsense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2386	c.2386A>T	K796*	Inactivating	FHH1	122284340	NA	SNV	Nonsense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2392	c.2392C>A	P798T	Inactivating	FHH1	122284346	NA	SNV	Missense	Exon 7	TMD	NA	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
2392	c.2392C>A	P798T	Inactivating	FHH1 (heterozygous)	122284346	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2392	c.2392C>A	P798T	Inactivating	FHH1 (heterozygous)	122284346	NA	SNV	Missense	Exon 7	TMD	NA	Lam	2005	15963484	10.1016/j.cccn.2005.04.026	Journal article
2393	c.2393C>T	P798L	Inactivating	FHH1 (heterozygous)	122284347	rs1060502856	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2393	c.2393C>T	P798L	Inactivating	FHH1 (heterozygous)	122284347	rs1060502856	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Udelsman	2015	NA	10.1002/jbmr.2763	Journal article
2395	c.2395G>A	E799L	Activating	ADH1	122284349	NA	SNV	Missense	Exon 7	TMD	NA	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
2399	c.2399A>C	N800T	Activating	ADH1	122284353	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2401	c.2401T>C	F801L	Inactivating	FHH1	122284355	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2401	c.2401T>C	F801L	Inactivating	FHH1	122284355	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2404	c.2404A>C	N802H	NA	NA	122284358	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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
2405	c.2405A>G	N802S	Inactivating	FHH1 (heterozygous)	122284359	rs140022350	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Lia-Baldini	2013	23169696	10.1530/EJE-12-0714	Journal article
2405	c.2405A>T	N802I	Activating	ADH1	122284359	NA	SNV	Missense	Exon 7	TMD	NA	Lia-Baldini	2013	23169696	10.1530/EJE-12-0714	Journal article
2405	c.2405A>T	N802I	Activating	ADH1	122284359	NA	SNV	Missense	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2405	c.2405A>T	N802I	Activating	ADH1	122284359	NA	SNV	Missense	Exon 7	TMD	NA	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
2410	c.2410G>A	A804T	Inactivating	FHH1	122284364	rs777219967	SNV	Missense	Exon 7	TMD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2411	c.2411C>A	A804D	Inactivating	FHH1	122284365	NA	SNV	Missense	Exon 7	TMD	NA	Grant	2012	23077345	10.1210/me.2012-1232	Journal article
2411	c.2411C>A	A804D	Inactivating	FHH1	122284365	NA	SNV	Missense	Exon 7	TMD	NA	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2411	c.2411C>A	A804D	Inactivating	FHH1 (heterozygous)	122284365	NA	SNV	Missense	Exon 7	TMD	NA	Miyashiro	2004	15579196	10.1111/j.1365-2265.2004.02163.x	Journal article
2414	c.2414A>G	K805R	Inactivating	FHH1 (heterozygous)	122284368	NA	SNV	Missense	Exon 7	TMD	NA	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2414	c.2414A>G	K805R	Inactivating	FHH1 (heterozygous)	122284368	NA	SNV	Missense	Exon 7	TMD	NA	Sagi	2020	33434173	10.1530/EDM-20-0084	Journal article
2415	c.2415del	K805fs*	NA	NA	122284369	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2417	c.2417T>C	F806S	Activating	ADH1	122284371	rs104893693	SNV	Missense	Exon 7	TMD	Pathogenic	Theman	2009	19063686	10.1359/JBMR.081233	Journal article
2417	c.2417T>C	F806S	Activating	ADH1	122284371	rs104893693	SNV	Missense	Exon 7	TMD	Pathogenic	Baron	1996	8733126	10.1093/hmg/5.5.601	Journal article
2417	c.2417T>C	F806S	Activating	ADH1	122284371	rs104893693	SNV	Missense	Exon 7	TMD	Pathogenic	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
2420	c.2420T>A	I807N	Inactivating	FHH1	122284374	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2422	c.2422A>C	T808P	Inactivating	FHH1 (heterozygous)	122284376	NA	SNV	Missense	Exon 7	TMD	NA	Mullin	2022	35356007	10.1210/jendso/bvac025	Journal article
2423	c.2393C>T	P798L	Inactivating	FHH1 (heterozygous)	122284347	NA	SNV	Missense	Exon 7	TMD	Pathogenic/Likely pathogenic	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2425	c.2425T>A	F809L	Inactivating	FHH1	122284379	rs2074938402	SNV	Missense	Exon 7	TMD	VUS	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
2425	c.2425T>C	F809L	Inactivating	FHH1	122284379	rs2074938402	SNV	Missense	Exon 7	TMD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2425	c.2425T>A	F809L	Inactivating	FHH1 (heterozygous)	122284379	rs2074938402	SNV	Missense	Exon 7	TMD	VUS	Timmers	2006	16882283	10.1111/j.1365-2796.2006.01684.x	Journal article
2425	c.2425T>A	F809I	Inactivating	FHH1	122284379	rs2074938402	SNV	Missense	Exon 7	TMD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2427	c.2427C>G	F809L	Inactivating	FHH1	122284381	rs2074938402	SNV	Missense	Exon 7	TMD	VUS	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2429	c.2429G>A	S810N	Activating	ADH1	122284383	rs2074938472	SNV	Missense	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2431	c.2431A>G	M811V	Activating	ADH1	122284385	rs1057521129	SNV	Missense	Exon 7	TMD	Likely pathogenic	Schouten	2011	21441391	10.1258/acb.2010.010139	Journal article
2435	c.2435T>G	L812R	Inactivating	FHH1	122284389	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2435	c.2435T>C	L812P	Inactivating	FHH1	122284389	rs193922435	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2443	c.2443_2445delTTC	F815del	Activating	ADH1	122284397	NA	Small deletion	Deletion	Exon 7	TMD	NA	Gagliardi	2016	27177819	10.1111/cen.13104	Journal article
2446	c.2446A>G	I816V	Inactivating	FHH1 (heterozygous)	122284400	NA	SNV	Missense	Exon 7	TMD	VUS	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2446	c.2446A>G	I816V	Inactivating	FHH1 (heterozygous)	122284400	NA	SNV	Missense	Exon 7	TMD	VUS	Jones	2020	32537548	10.1002/jbm4.10362	Journal article
2446	c.2446A>G	I816V	Inactivating	FHH1 (heterozygous)	122284400	NA	SNV	Missense	Exon 7	TMD	VUS	Mogas	2018	29899992	10.1530/EDM-18-0009	Journal article
2447	c.2447T>C	I816T	Inactivating	FHH1 (heterozygous)	122284401	NA	SNV	Missense	Exon 7	TMD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2447	c.2447T>C	I816T	Inactivating	FHH1 (heterozygous)	122284401	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2449	c.2449G>A	V817I	Inactivating	FHH1	122284403	rs1057518933	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2449	c.2449G>A	V817I	Inactivating	FHH1 (heterozygous)	122284403	rs1057518933	SNV	Missense	Exon 7	TMD	Likely pathogenic	Pearce	1995	8675635	10.1172/JCI118335	Journal article
2453	c.2453G>T	W818L	Activating	ADH1	122284407	NA	SNV	Missense	Exon 7	TMD	NA	Schouten	2011	21441391	10.1258/acb.2010.010139	Journal article
2454	c.2454G>A	W828*	NA	NA	122284408	rs1576878011	SNV	Nonsense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2458	c.2458T>G	S820A	Inactivating	FHH1 (heterozygous)	122284412	rs2074939020	SNV	Missense	Exon 7	TMD	VUS	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
2458	c.2458T>G	S820A	Inactivating	FHH1	122284412	rs2074939020	SNV	Missense	Exon 7	TMD	VUS	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
2459	c.2459C>T	S820F	Activating	ADH1	122284413	rs104893710	SNV	Missense	Exon 7	TMD	Pathogenic	Belli	2019	NA	10.1159/000501868	Conference abstract
2459	c.2459C>T	S820F	Activating	ADH1	122284413	rs104893710	SNV	Missense	Exon 7	TMD	Pathogenic	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2459	c.2459C>T	S820F	Activating	ADH1	122284413	rs104893710	SNV	Missense	Exon 7	TMD	Pathogenic	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
2459	c.2459G>A	S820N	Activating	ADH1	122284413	NA	SNV	Missense	Exon 7	TMD	NA	Hawkes	2020	33112267	10.1530/EJE-20-0710	Journal article
2459	c.2459C>T	S820F	Activating	ADH1	122284413	rs104893710	SNV	Missense	Exon 7	TMD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2459	c.2459C>T	S820F	Activating	ADH1	122284413	rs104893710	SNV	Missense	Exon 7	TMD	Pathogenic	Nagase	2002	12050233	10.1210/jcem.87.6.8531	Journal article
2461	c.2461T>C	F821L	Activating	ADH1	122284415	NA	SNV	Missense	Exon 7	TMD	NA	Gevers	2017	NA	Gevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).	Conference abstract
2461	c.2461T>C	F821L	Activating	ADH1	122284415	NA	SNV	Missense	Exon 7	TMD	NA	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2461	c.2461T>C	F821L	Activating	ADH1	122284415	NA	SNV	Missense	Exon 7	TMD	NA	Sastre	2021	34233101	10.1056/NEJMc2034981	Journal article
2461	c.2461T>C	F821L	Activating	ADH1	122284415	NA	SNV	Missense	Exon 7	TMD	NA	Shiohara	2004	14677060	10.1007/s00431-003-1331-7	Journal article
2461	c.2461T>C	F821L	Activating	ADH1	122284415	NA	SNV	Missense	Exon 7	TMD	NA	Shiohara	2006	16983178	10.1507/endocrj.k06-053	Journal article
2467	c.2467C>T	P823S	Inactivating	FHH1	122284421	rs1576878027	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2470	c.2470G>C	A824P	Activating	ADH1	122284424	NA	SNV	Missense	Exon 7	TMD	NA	Chapman	2010	NA	10.1159/000321348	Conference abstract
2470	c.2470G>T	A824S	Activating	ADH1	122284424	NA	SNV	Missense	Exon 7	TMD	NA	Chapman	2010	NA	10.1159/000321348	Conference abstract
2470	c.2470G>C	A824P	Activating	ADH1	122284424	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2474	c.2474A>T	Y825F	Activating	ADH1	122284428	NA	SNV	Missense	Exon 7	TMD	NA	Moon	2018	29969884	10.6065/apem.2018.23.2.107	Journal article
2479	c.2479A>G	S827G	Inactivating	FHH1	122284433	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2479	c.2479A>C	S827R	Inactivating	FHH1 (heterozygous)	122284433	NA	SNV	Missense	Exon 7	TMD	NA	Szalat	2017	28176280	10.1007/s12020-017-1241-5	Journal article
2479	c.2479A>C	S827R	Inactivating	FHH1	122284433	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2482	c.2482A>C	T828P	NA	NA	122284436	rs794729230	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
2483	c.2483C>A	T828D	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Gevers	2017	NA	Gevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).	Conference abstract
2483	c.2483C>A	T828D	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Giner	2013	NA	10.1055/s-0033-1337875	Journal article
2483	c.2483C>A	T828D	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
2483	c.2483C>T	T828I	Inactivating	FHH1 (heterozygous)	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	29463778	10.1126/scisignal.aan3714	Journal article
2483	c.2483C>A	T828N	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2483	c.2483C>A	T828N	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Sastre	2021	34233101	10.1056/NEJMc2034981	Journal article
2483	c.2483C>A	T828N	Activating	ADH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
2483	c.2483C>T	T828I	Inactivating	FHH1	122284437	NA	SNV	Missense	Exon 7	TMD	NA	Gorvin	2018	30052933	10.1093/hmg/ddy263	Journal article
2486	c.2486A>G	Y829C	Activating	ADH1	122284440	NA	SNV	Missense	Exon 7	TMD	NA	Choi	2015	25932037	10.3345/kjp.2015.58.4.148	Journal article
2486	c.2486A>G	Y829C	Activating	Bartter syndrome type V (heterozygous)	122284440	NA	SNV	Missense	Exon 7	TMD	NA	Choi	2015	25932037	10.3345/kjp.2015.58.4.148	Journal article
2486	c.2486A>G	Y829C	Activating	ADH1	122284440	NA	SNV	Missense	Exon 7	TMD	NA	Gevers	2017	NA	Gevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).	Conference abstract
2486	c.2486A>G	Y829C	Activating	ADH1	122284440	NA	SNV	Missense	Exon 7	TMD	NA	Sastre	2021	34233101	10.1056/NEJMc2034981	Journal article
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	Harari-Shaham	2019	NA	10.1038/s41431-018-0248-6	Conference abstract
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	Letz	2010	20668040	10.1210/jc.2010-0651	Journal article
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	McDonald	2019	NA	10.1007/s11845-019-02073-w	Conference abstract
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2488	c.2488G>A	G830S	Activating	ADH1	122284442	NA	SNV	Missense	Exon 7	TMD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
2489	c.2489G>A	G830D	Inactivating	FHH1	122284443	rs193922436	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2492	c.2492A>C	K831T	Activating	ADH1	122284446	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2494	c.2494T>C	F832L	Activating	ADH1	122284448	NA	SNV	Missense	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Hawkes	2020	33112267	10.1530/EJE-20-0710	Journal article
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Song	2020	NA	10.3760/cma.j.cn112140-20200317- 00258	Conference abstract
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2495	c.2495T>C	F832S	Activating	ADH1	122284449	NA	SNV	Missense	Exon 7	TMD	VUS	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
2501	c.2501delC	S834fs*	Inactivating	FHH1 (heterozygous)	122284455	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Ma	2008	18525093	https://www.hkmj.org/abstracts/v14n3/226.htm	Journal article
2503	c.2503G>A	A835T	Activating	ADH1	122284457	rs2074939751	SNV	Missense	Exon 7	TMD	VUS	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
2504	c.2504C>A	A835D	Activating	ADH1	122284458	NA	SNV	Missense	Exon 7	TMD	NA	Letz	2014	25506941	10.1371/journal.pone.0115178	Journal article
2506	c.2506G>A	V836I	Activating	ADH1	122284460	NA	SNV	Missense	Exon 7	TMD	NA	Eugenin	2016	NA	10.1210/endo-meetings.2016.BCHVD.10.SUN-388	Conference abstract
2506	c.2506G>C	V836L	Activating	ADH1	122284460	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2511	c.2511G>C	E837D	Activating	ADH1	122284465	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2516	c.2516T>C	I839T	Activating	ADH1	122284470	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
2516	c.2516T>C	I839T	Activating	ADH1	122284470	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Nakamura	2013	23966241	10.1210/jc.2013-1974	Journal article
2516	c.2516T>A	I839N	Activating	ADH1	122284470	NA	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2519	c.2519C>T	A840V	Activating	ADH1	122284473	rs1553769127	SNV	Missense	Exon 7	TMD	VUS	Roberts	2019	31063613	10.1002/jbmr.3747	Journal article
2519	c.2519C>T	A840V	Activating	ADH1	122284473	rs1553769127	SNV	Missense	Exon 7	TMD	VUS	Shulman	2022	35350394	10.1210/jendso/bvac031	Journal article
2519	c.2519C>T	A840V	Activating	ADH1	122284473	rs1553769127	SNV	Missense	Exon 7	TMD	VUS	Winer	2018	30470382	10.1016/j.jpeds.2018.08.010	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Fox	2016	27540249	10.1136/archdischild-2016-311535.66	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Gevers	2017	NA	Gevers EF, Buck J, Ashman N, Thakker RV, Allgrove J. Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia. Endocrine Reviews. 2017;38(3).	Conference abstract
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Kinoshika	2013	24297799	10.1210/jc.2013-3430	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Kumaran	2009	NA	10.1016/j.bone.2009.04.137	Conference abstract
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Leach	2012	22798347	10.1210/en.2012-1449	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Letz	2014	25506941	10.1371/journal.pone.0115178	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Nakamura	2013	NA	Hormone Research in Paediatrics 2013 Vol. 80 Pages 52-53	Conference abstract
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Oprea	2022	NA	10.1159/000525606	Conference abstract
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Sanda	2008	18556971	10.1515/jpem.2008.21.4.385	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Sastre	2021	34233101	10.1056/NEJMc2034981	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Sato	2002	12107202	10.1210/jcem.87.7.8639	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Vallant	2022	35317006	10.1097/TXD.0000000000001284	Journal article
2528	c.2528C>A	A843E	Activating	ADH1/Bartter syndrome type V	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Watanabe	2002	12241879	10.1016/S0140-6736(02)09842-2	Journal article
2528	c.2528C>A	A843E	Activating	ADH1	122284482	rs104893706	SNV	Missense	Exon 7	TMD	Pathogenic	Zhao	1999	10217436	10.1016/s0014-5793(99)00368-3	Journal article
2530	c.2530G>A	A844T	Activating	ADH1	122284484	NA	SNV	Missense	Exon 7	TMD	NA	Letz	2010	20668040	10.1210/jc.2010-0651	Journal article
2530	c.2530G>C	A844P	Activating	ADH1	122284484	NA	SNV	Missense	Exon 7	TMD	NA	Nakajima	2009	19915295	10.2169/internalmedicine.48.2459	Journal article
2530	c.2530G>A	A844T	Activating	ADH1	122284484	NA	SNV	Missense	Exon 7	TMD	NA	Raue	2011	21645025	10.1111/j.1365-2265.2011.04142.x	Journal article
2531	c.2531C>T	A844V	Activating	ADH1	122284485	rs2074940195	SNV	Missense	Exon 7	TMD	Likely pathogenic	Clinvar	NA	NA	https://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
2532	c.2532_2539delCAGCTTT	S845fs*133	Inactivating	FHH1 (heterozygous)	122284486	NA	Small deletion	Frameshift	Exon 7	TMD	NA	Bulus	2022	NA	10.1159/000525606	Conference abstract
2533	c.2533_2545del	S845fs*	NA	NA	122284486	NA	Small deletion	Frameshift	Exon 7	TMD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2534	c.2534G>A	S845N	Activating	ADH1	122284488	NA	SNV	Missense	Exon 7	TMD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2546	c.2546T>C	L849P	Inactivating	FHH1 (heterozygous)	122284500	rs2074940343	SNV	Missense	Exon 7	TMD	VUS	Frank-Raue	2011	21521328	10.1111/j.1365-2265.2011.04059.x	Journal article
2546	c.2546T>C	L849P	Inactivating	FHH1	122284500	rs2074940343	SNV	Missense	Exon 7	TMD	VUS	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
2550	c.2550_2551insCCAG	C850fs*132	Inactivating	FHH1 (heterozygous)	122284504	NA	Small insertion	Frameshift	Exon 7	TMD	NA	D'Souza-Li	2002	11889203	10.1210/jcem.87.3.8280	Journal article
2550	c.2550_2551insCCAG	C850fs*132	Inactivating	FHH1	122284504	NA	Small insertion	Frameshift	Exon 7	TMD	NA	Cole	2009	19179454	10.1677/JME-08-0164	Journal article
2570	c.2570T>G	I857S	Activating	Bartter syndrome type V (heterozygous)	122284524	NA	SNV	Missense	Exon 7	TMD	NA	Chou	2022	35192837	10.1016/j.yexcr.2022.113080	Journal article
2579	c.2579T>G	I860S	Inactivating	FHH1	122284533	NA	SNV	Missense	Exon 7	TMD	NA	Mouly	2019	32347971	10.1111/cen.14211	Journal article
2579	c.2579T>G	I860S	Inactivating	FHH1	122284533	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2582	c.2582T>C	L861P	Inactivating	FHH1	122284536	NA	SNV	Missense	Exon 7	TMD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2600	c.2600A>T	N867I	Inactivating	FHH1	122284554	NA	SNV	Missense	Exon 7	ICD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2608	c.2608G>T	E870*	Inactivating	FHH1	122284562	NA	SNV	Nonsense	Exon 7	ICD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2611	c.2611G>T	E871*	NA	NA	122284565	rs1057520646	SNV	Nonsense	Exon 7	ICD	Pathogenic	Clinvar	NA	NA	https://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_first	Clinvar
2618	c.2618G>A	R873H	Inactivating	FHH1	122284572	NA	SNV	Missense	Exon 7	ICD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2618	c.2618G>C	R873P	Inactivating	FHH1	122284572	NA	SNV	Missense	Exon 7	ICD	VUS	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
2627	c.2627C>A	T876N	Inactivating	FHH1	122284581	NA	SNV	Missense	Exon 7	ICD	NA	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2641	c.2641T>C	F881L	Inactivating	FHH1 (heterozygous)	122284595	rs104893704	SNV	Missense	Exon 7	ICD	Likely pathogenic	Carling	2000	10843194	10.1210/jcem.85.5.6477	Journal article
2641	c.2641T>C	F881L	Inactivating	FHH1	122284595	rs104893704	SNV	Missense	Exon 7	ICD	Likely pathogenic	Lu	2009	19759318	10.1124/jpet.109.159228	Journal article
2644	c.2644A>T	K882*	Inactivating	FHH1	122284598	rs193922437	SNV	Nonsense	Exon 7	ICD	Likely pathogenic	Clinvar	NA	NA	https://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
2647	c.2647G>A	V883M	Activating	ADH1	122284601	NA	SNV	Missense	Exon 7	ICD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2654	c.2654C>A	A885D	Inactivating	FHH1 (heterozygous)	122284608	NA	SNV	Missense	Exon 7	ICD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2656	c.2656C>T	R886P	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Christensen	2008	18410554	10.1111/j.1365-2265.2008.03259.x	Journal article
2656	c.2656C>T	R886P	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Christensen	2009	19250271	10.1111/j.1365-2265.2009.03557.x	Journal article
2656	c.2656C>T	R886W	Inactivating	NSHPT (homozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2656	c.2656C>T	R886W	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Jakobsen	2013	23764372	10.1530/EJE-13-0224	Journal article
2656	c.2656C>T	R886W	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Nissen	2007	17698911	10.1210/jc.2007-0322	Journal article
2656	c.2656C>T	R886P	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Reschke	2013	NA	Reschke 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
2656	c.2656C>T	R886P	Inactivating	FHH1 (heterozygous)	122284610	rs1559969429	SNV	Missense	Exon 7	ICD	Pathogenic	Simonds	2002	11807402	10.1097/00005792-200201000-00001	Journal article
2657	c.2657G>C	R886P	Inactivating	FHH1 (heterozygous)	122284611	rs1057520791	SNV	Missense	Exon 7	ICD	Pathogenic	Baral	2017	NA	Baral 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
2659	c.2659G>C	A887P	Inactivating	FHH1 (heterozygous)	122284613	NA	SNV	Missense	Exon 7	ICD	NA	Mariathasan	2020	32430905	10.1111/cen.14254	Journal article
2660	c.2660C>A	A887D	Inactivating	FHH1 (heterozygous)	122284614	NA	SNV	Missense	Exon 7	ICD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2663	c.2663C>T	T888M	Activating	ADH1	122284617	NA	SNV	Missense	Exon 7	ICD	NA	Lazarus	2011	21135065	10.1530/EJE-10-0907	Journal article
2682	c.2682delC	S895Pfs*44	Activating	ADH1	122284636	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Cisternino	2013	NA	Cisternino 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
2682	c.2682_3224del	S895_V1075del	Activating	ADH1	122284636	rs1553769169	CNV	Deletion	Exon 7	ICD	Pathogenic	Lienhardt	2000	10770217	10.1210/jcem.85.4.6570	Journal article
2682	c.2682_3224del	S895_V1075del	Activating	ADH1	122284636	rs1553769169	CNV	Deletion	Exon 7	ICD	Pathogenic	Lienhardt	2001	11701698	10.1210/jcem.86.11.8016	Journal article
2682	c.2682delC	S895Pfs*44	Activating	ADH1	122284636	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Maruca	2017	27561204	10.1016/j.mce.2016.08.032	Journal article
2703	c.2703_2710delCCTTGGAG	S901fs*77	Activating	ADH1	122284657	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Obermannova	2016	26764418	10.1530/EJE-15-1216	Journal article
2730	c.2730delC	P910fs*29	Activating	ADH1	122284684	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Hannan	2012	22422767	10.1093/hmg/dds105	Journal article
2776	c.2776C>T	Q926*	Inactivating	FHH1	122284730	NA	SNV	Missense	Exon 7	ICD	VUS	Nissen	2019	31433865	10.1111/cen.14078	Journal article
2777	c.2777A>G	Q926R	Inactivating	FHH1 (heterozygous)	122284731	rs200263975	SNV	Missense	Exon 7	ICD	Conflicting interpretations of pathogenicity	Frank-Raue	2011	21521328	10.1111/j.1365-2265.2011.04059.x	Journal article
2777	c.2777A>G	Q926R	Inactivating	FHH1	122284731	rs200263975	SNV	Missense	Exon 7	ICD	Conflicting interpretations of pathogenicity	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
2800	c.2800C>T	Q934*	Activating	ADH1	122284754	NA	SNV	Nonsense	Exon 7	ICD	NA	García-Castaño	2018	30407919	10.1530/EJE-18-0129	Journal article
2901	c.2901delC	L968fs*10	Activating	ADH1	122284855	NA	SNV	Frameshift	Exon 7	ICD	NA	Nissen	2012	22192860	10.1016/j.cca.2011.12.004	Journal article
2901	c.2901del	F968fs*	NA	NA	122284855	NA	Small deletion	Frameshift	Exon 7	ICD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
2915	c.2915C>T	T972M	Inactivating	FHH1 (heterozygous)	122284869	rs200620134	SNV	Missense	Exon 7	ICD	Conflicting interpretations of pathogenicity	Mastromatteo	2014	25292184	10.1186/1472-6823-14-81	Journal article
3010	c.3010del	S1014fs*	NA	NA	122284964	rs1131691620	Small deletion	Frameshift	Exon 7	ICD	Pathogenic	Clinvar	NA	NA	https://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_second	Clinvar
3013	c.3013G>A	D1005N	Inactivating	FHH1 (heterozygous)	122284967	rs201990892	SNV	Missense	Exon 7	ICD	VUS	Frank-Raue	2011	21521328	10.1111/j.1365-2265.2011.04059.x	Journal article
3013	c.3013G>A	D1005N	Inactivating	FHH1	122284967	rs201990892	SNV	Missense	Exon 7	ICD	VUS	Rus	2008	18796518	10.1210/jc.2008-1076	Journal article
3104	c.3104delC	P1025Lfs*21	Inactivating	FHH1	122285058	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Vargas-Poussou	2016	26963950	10.1210/jc.2015-3442	Journal article
3163	c.3163_3170delinsTTACTGGGGA	V1045fs*	Inactivating	FHH1 (heterozygous)	122285117	NA	SNV	Frameshift	Exon 7	ICD	NA	Mijares Zamuner	2013	22789152	10.1016/j.endonu.2012.04.006	Journal article
3193	c.3193delA	S1065Vfs*	Inactivating	FHH1 (heterozygous)	122285147	NA	Small deletion	Frameshift	Exon 7	ICD	NA	Yabuta	2009	19423460	10.1016/S1015-9584(09)60022-1	Journal article
3235	c.3235T>C	1079Qext8	Inactivating	FHH1 (heterozygous)	122285189	NA	SNV	Loss of stop codon	Exon 7	ICD	NA	Guarnieri	2010	20164288	10.1210/jc.2008-2430	Journal article
3235	c.3235T>C	1079Qext8	Inactivating	FHH1 (heterozygous)	122285189	NA	SNV	Loss of stop codon	Exon 7	ICD	NA	Tellam	2020	32698162	10.1530/EDM-20-0004	Journal article
NA	NA	V268fs*6	Inactivating	FHH1 (heterozygous)	NA	NA	Small deletion	Frameshift	Exon 3	ECD	NA	Simonds	2002	11807402	10.1097/00005792-200201000-00001	Journal article
NA	NA	T876insAlufs-1X911	Inactivating	FHH1 (heterozygous)	NA	NA	Small insertion	Frameshift	Exon 7	ICD	NA	Janicic	1995	7717399	NA	Journal article
NA	NA	T876insAlufs-1X911	Inactivating	NSHPT (homozygous)	NA	NA	Small insertion	Frameshift	Exon 7	ICD	NA	Janicic	1995	7717399	NA	Journal article

Amino Acid Snake Diagram

Download Figures

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)