Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	SNV Germline	Chr3:122284337	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA119467	rs_121909258	4 SubmittersRCV000008810 RCV000517736 RCV000793559 RCV001199039
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	SNV Germline	Chr3:122261924	Pathogenic	Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA119469	rs_121909259	2 SubmittersRCV000008811 RCV000008812 RCV002228021
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	SNV Germline	Chr3:122261589	Pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119471	rs_104893689	15 SubmittersRCV000008814 RCV000008813 RCV000412784 RCV000627760 RCV001804716 RCV002496307 RCV004554586
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	SNV Germline	Chr3:122257275	Pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA119473	rs_121909260	4 SubmittersRCV000008815 RCV000489583 RCV001060775 RCV002482842
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	SNV Germline	Chr3:122261715	Pathogenic	Neonatal severe primary hyperparathyroidism CASR-related disorder Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119475	rs_28936684	5 SubmittersRCV000008818 RCV004554587 RCV001384282 RCV004791198
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)	SNV Germline	Chr3:122283699	Pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA119477	rs_104893690	2 SubmittersRCV000008819 RCV000477640
NM_000388.4(CASR):c.2043G>T (p.Gln681His)	SNV Germline	Chr3:122283997	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119479	rs_121909261	1 SubmittersRCV000008821
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)	SNV Germline	Chr3:122257241	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA119481	rs_104893691	3 SubmittersRCV000008822 RCV001818146 RCV004991967
NM_000388.4(CASR):c.452C>T (p.Thr151Met)	SNV Germline	Chr3:122257347	Pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA119485	rs_104893694	5 SubmittersRCV000008824 RCV001818147 RCV001851746
NM_000388.4(CASR):c.354C>A (p.Asn118Lys)	SNV Germline	Chr3:122257249	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119487	rs_104893695	1 SubmittersRCV000008825
NM_000388.4(CASR):c.382T>C (p.Phe128Leu)	SNV Germline	Chr3:122257277	Pathogenic	Autosomal dominant hypocalcemia 1 CASR-related disorder	No Assertion Criteria Provided	CA119489	rs_104893696	2 SubmittersRCV000008827 RCV004758591
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)	SNV Germline	Chr3:122261606	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119491	rs_104893697	1 SubmittersRCV000008828
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)	SNV Germline	Chr3:122283789	Likely pathogenic	Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Single Submitter	CA119493	rs_104893698	2 SubmittersRCV000008829 RCV004018592
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)	SNV Germline	Chr3:122284272	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119495	rs_104893699	1 SubmittersRCV000008830
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	SNV Germline	Chr3:122261715	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212891	rs_28936684	7 SubmittersRCV000008833 RCV000524505 RCV000516668 RCV002265551 RCV002496308 RCV004018593 RCV004554588
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	SNV Germline	Chr3:122257308	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Condition: not provided CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA119501	rs_121909263	6 SubmittersRCV000008834 RCV002228022 RCV002476947 RCV003480025 RCV004554589 RCV004018594
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	SNV Germline	Chr3:122257323	Pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA119503	rs_121909264	4 SubmittersRCV000008835 RCV000549803 RCV000498830 RCV002271366
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	SNV Germline	Chr3:122257091	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA119507	rs_121909266	4 SubmittersRCV000008837 RCV000498645 RCV001851747 RCV003398474
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)	SNV Germline	Chr3:122284317	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA119509	rs_104893701	4 SubmittersRCV000008838 RCV001851748 RCV004018595
NM_000388.4(CASR):c.141A>C (p.Lys47Asn)	SNV Germline	Chr3:122254330	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119511	rs_104893702	1 SubmittersRCV000008839
NM_000388.4(CASR):c.1846C>G (p.Leu616Val)	SNV Germline	Chr3:122283800	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119513	rs_104893703	1 SubmittersRCV000008840
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	SNV Germline	Chr3:122284595	Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA119515	rs_104893704	2 SubmittersRCV000008842 RCV000549191
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)	SNV Germline	Chr3:122283896	Pathogenic	Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA119517	rs_104893705	4 SubmittersRCV000008843 RCV000054484 RCV003764537 RCV004018596
NM_000388.4(CASR):c.186-1G>T	SNV Germline	Chr3:122257080	Pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA212893	rs_797044441	3 SubmittersRCV000008845 RCV001390066 RCV004018597
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	SNV Germline	Chr3:122284482	Likely pathogenic	Bartter syndrome with hypocalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA119519	rs_104893706	2 SubmittersRCV000008847 RCV000054480
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	SNV Germline	Chr3:122261588	Pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA119523	rs_104893707	3 SubmittersRCV000008850 RCV001040159
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	SNV Germline	Chr3:122257269	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Bartter syndrome with hypocalcemia Condition: not provided Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA119525	rs_104893708	5 SubmittersRCV000008851 RCV000190877 RCV001781207 RCV002482843 RCV003764538
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)	SNV Germline	Chr3:122284413	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119527	rs_104893710	1 SubmittersRCV000008852
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)	SNV Germline	Chr3:122284316	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119529	rs_104893711	1 SubmittersRCV000008853
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	SNV Germline	Chr3:122283764	Pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Autosomal dominant hypocalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119533	rs_104893712	9 SubmittersRCV000008855 RCV000414467 RCV001804717 RCV001851749 RCV003343599 RCV004554590
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	SNV Germline	Chr3:122275828	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA119537	rs_104893716	5 SubmittersRCV000008857 RCV000459271 RCV003482226 RCV004018600
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)	SNV Germline	Chr3:122284134	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA119541	rs_104893718	1 SubmittersRCV000008859
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)	SNV Germline	Chr3:122262093	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA213557	rs_193922419	2 SubmittersRCV000029425 RCV001852587
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	SNV Germline	Chr3:122275959	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA213564	rs_193922423	3 SubmittersRCV000029430 RCV001070010 RCV001659729
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)	SNV Germline	Chr3:122283968	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA213577	rs_193922431	2 SubmittersRCV000029438 RCV003764636
NM_000388.4(CASR):c.206G>A (p.Arg69His)	SNV Germline	Chr3:122257101	Pathogenic/Likely pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA213579	rs_193922432	6 SubmittersRCV000029439 RCV000465400 RCV000518959 RCV002247396 RCV004601088
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)	SNV Germline	Chr3:122285045	Conflicting classifications of pathogenicity	not specified Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA213597	rs_142704083	6 SubmittersRCV000503233 RCV000987315 RCV001085495 RCV004018682
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu)	SNV Germline	Chr19:3121122	Pathogenic	Autosomal dominant hypocalcemia 2	No Assertion Criteria Provided	CA144606	rs_140749796	1 SubmittersRCV000054477
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys)	SNV Germline	Chr19:3110190	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 2 Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144607	rs_587777021	3 SubmittersRCV000054478 RCV002504951 RCV001853077
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp)	SNV Germline	Chr19:3118950	Pathogenic	Autosomal dominant hypocalcemia 2	No Assertion Criteria Provided	CA144608	rs_587777022	1 SubmittersRCV000054479
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	SNV Germline	Chr3:122261697	Pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Autosomal dominant hypocalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144609	rs_397514728	10 SubmittersRCV000054481 RCV000518374 RCV001797617 RCV001384281 RCV003343624 RCV002490628 RCV004554695
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)	SNV Germline	Chr3:122262227	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Hereditary cancer-predisposing syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA216118	rs_201177696	8 SubmittersRCV000054614 RCV001083262 RCV001818230 RCV002255127 RCV004018970
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)	SNV Germline	Chr3:122284731	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA216130	rs_200263975	7 SubmittersRCV000054620 RCV000225899 RCV004018974 RCV004554696
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)	SNV Germline	Chr3:122261775	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA216140	rs_200382161	4 SubmittersRCV000054625 RCV000469248 RCV004018975
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)	SNV Germline	Chr19:3110191	Pathogenic	Autosomal dominant hypocalcemia 2	No Assertion Criteria Provided	CA170731	rs_587777707	1 SubmittersRCV000144048
NM_000388.4(CASR):c.114T>C (p.Phe38=)	SNV Germline	Chr3:122254303	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA238601	rs_61733590	3 SubmittersRCV000173116 RCV001086519 RCV004020055
NM_000388.4(CASR):c.2901C>A (p.Ile967=)	SNV Germline	Chr3:122284855	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA246560	rs_199594582	4 SubmittersRCV000179298 RCV001084514 RCV004020144 RCV004554744
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	SNV Germline	Chr3:122257322	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2569467	rs_769256610	5 SubmittersRCV000226673 RCV003114394 RCV002472975 RCV004601135 RCV004758675
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)	SNV Germline	Chr3:122261889	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10582120	rs_200039241	4 SubmittersRCV000231296 RCV000274163 RCV002494625 RCV004020762
NM_000388.4(CASR):c.1188A>G (p.Thr396=)	SNV Germline	Chr3:122262223	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569608	rs_200312817	5 SubmittersRCV000233360 RCV001149345 RCV001149346 RCV001149347 RCV001149348 RCV003144169 RCV004020749 RCV004554754
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)	SNV Germline	Chr3:122282135	Conflicting classifications of pathogenicity	not specified Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome Nephrolithiasis/nephrocalcinosis Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2569716	rs_115230894	14 SubmittersRCV000251515 RCV000281394 RCV000312098 RCV000337880 RCV000390791 RCV000727289 RCV001081459 RCV002255323 RCV004020752 RCV001838993
NM_000388.4(CASR):c.1752G>A (p.Lys584=)	SNV Germline	Chr3:122283706	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Nephrolithiasis/nephrocalcinosis Hereditary cancer-predisposing syndrome Condition: not provided CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569741	rs_138638329	6 SubmittersRCV000227311 RCV000317362 RCV000259904 RCV000323277 RCV000380231 RCV004020753 RCV002255324 RCV003311719 RCV004554756
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	SNV Germline	Chr3:122283993	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA2569773	rs_773146939	5 SubmittersRCV000231951 RCV000991741 RCV002494624 RCV003235152
NM_000388.4(CASR):c.2064C>T (p.Phe688=)	SNV Germline	Chr3:122284018	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569778	rs_150869744	7 SubmittersRCV000302845 RCV000347538 RCV000359832 RCV000395248 RCV000711032 RCV001080668 RCV002255325 RCV002267979 RCV004020756
NM_000388.4(CASR):c.1733-9A>G	SNV Germline	Chr3:122283678	Conflicting classifications of pathogenicity	not specified Familial hypoparathyroidism Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA2569740	rs_190731787	4 SubmittersRCV000249281 RCV000265913 RCV000271263 RCV000310035 RCV000357824 RCV000549471
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)	SNV Germline	Chr3:122283867	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA10588349	rs_201852643	3 SubmittersRCV000255744 RCV003317177 RCV001855012
NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	SNV Germline	Chr3:122254353	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA10602861	rs_886041154	7 SubmittersRCV000401051 RCV000815977 RCV002469093 RCV003982979 RCV004021054
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	SNV Germline	Chr3:122282134	Pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA10602891	rs_886041637	4 SubmittersRCV000279142 RCV002272201 RCV004021067 RCV002229733
NM_000388.4(CASR):c.885C>T (p.Ala295=)	SNV Germline	Chr3:122261920	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569555	rs_147307274	4 SubmittersRCV000290827 RCV001087362 RCV004021076
NM_000388.4(CASR):c.3132G>A (p.Val1044=)	SNV Germline	Chr3:122285086	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569937	rs_755277801	3 SubmittersRCV000400310 RCV001084533 RCV004021153
NM_000388.4(CASR):c.60C>T (p.Tyr20=)	SNV Germline	Chr3:122254249	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569413	rs_201564143	6 SubmittersRCV000315565 RCV001087642 RCV001147693 RCV001147692 RCV001147694 RCV001147691 RCV004021177 RCV004554760
NM_000388.4(CASR):c.1074C>T (p.Cys358=)	SNV Germline	Chr3:122262109	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA10606496	rs_886044221	2 SubmittersRCV000345377 RCV003765668
NM_000388.4(CASR):c.1665T>C (p.Ile555=)	SNV Germline	Chr3:122282169	Conflicting classifications of pathogenicity	Familial hypoparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569721	rs_201955278	3 SubmittersRCV000306403 RCV000363520 RCV000369153 RCV000397082 RCV000560070 RCV004021878
NM_000388.4(CASR):c.1923C>T (p.Pro641=)	SNV Germline	Chr3:122283877	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10614603	rs_368093724	3 SubmittersRCV000309043 RCV000296195 RCV000404234 RCV000343864 RCV001493729 RCV004601159
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)	SNV Germline	Chr3:122284869	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569889	rs_200620134	8 SubmittersRCV000288087 RCV000345436 RCV000383567 RCV000525899 RCV000664401 RCV000711038 RCV004021880
NM_000388.4(CASR):c.3168G>T (p.Val1056=)	SNV Germline	Chr3:122285122	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10614607	rs_886057831	4 SubmittersRCV000281252 RCV000317589 RCV000372191 RCV000376313 RCV000884515 RCV004554764 RCV004021883
NM_000388.4(CASR):c.3054C>T (p.Cys1018=)	SNV Germline	Chr3:122285008	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569925	rs_371038712	3 SubmittersRCV000271192 RCV000324970 RCV000328611 RCV000363417 RCV001861205 RCV004021882
NM_000388.4(CASR):c.-111C>A	SNV Germline	Chr3:122254079	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA10616927	rs_201098532	1 SubmittersRCV000295877 RCV000350815 RCV000385290 RCV000405462
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)	SNV Germline	Chr3:122262043	Conflicting classifications of pathogenicity	Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569573	rs_548403340	3 SubmittersRCV000270421 RCV000276416 RCV000333822 RCV000362753 RCV001309597 RCV004021877
NM_000388.4(CASR):c.2955C>T (p.Asn985=)	SNV Germline	Chr3:122284909	Conflicting classifications of pathogenicity	Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569898	rs_199884115	3 SubmittersRCV000291642 RCV000305011 RCV000340015 RCV000405908 RCV000466799 RCV004021881
NM_000388.4(CASR):c.-154T>A	SNV Germline	Chr3:122254036	Conflicting classifications of pathogenicity	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA10616994	rs_186365367	1 SubmittersRCV000266252 RCV000267261 RCV000321148 RCV000380375
NM_000388.4(CASR):c.6A>C (p.Ala2=)	SNV Germline	Chr3:122254195	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Hereditary cancer-predisposing syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569403	rs_112042188	6 SubmittersRCV000303092 RCV000306453 RCV000347434 RCV000395613 RCV000461937 RCV000731195 RCV002256219 RCV004021874
NM_000388.4(CASR):c.930C>T (p.Tyr310=)	SNV Germline	Chr3:122261965	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569563	rs_201737357	3 SubmittersRCV000311839 RCV000354303 RCV000368865 RCV000394262 RCV000954359 RCV004021876
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	SNV Germline	Chr3:122254262	Pathogenic/Likely pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related calcium metabolism disorders Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA2569414	rs_201633414	10 SubmittersRCV000413560 RCV000457695 RCV003333060 RCV004022152 RCV004786676 RCV004586698
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	SNV Germline	Chr3:122262218	Likely pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA16042449	rs_1057517712	2 SubmittersRCV000413522 RCV002523905
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	SNV Germline	Chr3:122284403	Likely pathogenic	Hypercalcemia Parathyroid gland adenoma Hypertrophic cardiomyopathy Hypocalciuria Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA16043395	rs_1057518933	6 SubmittersRCV000415394 RCV000991745 RCV001379697 RCV003401408 RCV002488857
NM_000388.4(CASR):c.2431A>G (p.Met811Val)	SNV Germline	Chr3:122284385	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA16604354	rs_1057521129	2 SubmittersRCV000440135 RCV002519527
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	SNV Germline	Chr3:122284611	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA16604355	rs_1057520791	5 SubmittersRCV000694836 RCV000443461 RCV000664400
NM_000388.4(CASR):c.514A>G (p.Arg172Gly)	SNV Germline	Chr3:122261549	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA16604425	rs_201851934	3 SubmittersRCV000434715 RCV000705547
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	SNV Germline	Chr3:122284359	Pathogenic/Likely pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 CASR-related disorder Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA2569822	rs_140022350	6 SubmittersRCV000433842 RCV000700033 RCV002488902 RCV004554774 RCV003993953
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	SNV Germline	Chr3:122261567	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA16611083	rs_1060502855	2 SubmittersRCV002230097 RCV002271503
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)	SNV Germline	Chr3:122261883	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Familial hypocalciuric hypercalcemia 1 not specified CASR-related disorder Nephrolithiasis/nephrocalcinosis See cases	Criteria Provided Conflicting Classifications	CA2569545	rs_142745096	13 SubmittersRCV000463689 RCV000493534 RCV001030008 RCV002268085 RCV004554781 RCV004022778 RCV004584387
NM_000388.4(CASR):c.57C>T (p.Ala19=)	SNV Germline	Chr3:122254246	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569412	rs_761576251	3 SubmittersRCV000457477 RCV001770365 RCV004023006
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)	SNV Germline	Chr3:122261792	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569529	rs_202179597	3 SubmittersRCV000476640 RCV001553724 RCV004022758
NM_000388.4(CASR):c.1913G>A (p.Arg638His)	SNV Germline	Chr3:122283867	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569760	rs_201852643	4 SubmittersRCV000459788 RCV004022764 RCV002489065 RCV004554780
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	SNV Germline	Chr3:122283992	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA2569772	rs_767363250	3 SubmittersRCV001289355 RCV002307504 RCV002230400
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	SNV Germline	Chr3:122284347	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16611130	rs_1060502856	4 SubmittersRCV000474973 RCV002265771 RCV002465660
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	SNV Germline	Chr3:122275827	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA2569651	rs_751217000	6 SubmittersRCV000991736 RCV000468370 RCV001824137 RCV004022772 RCV003323549
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	SNV Germline	Chr3:122282156	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA16611307	rs_1060502861	1 SubmittersRCV000465116
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)	SNV Germline	Chr3:122254250	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA16617810	rs_1064794290	5 SubmittersRCV000484137 RCV000527853 RCV004992259
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	SNV Germline	Chr3:122261612	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA16617814	rs_1064793992	2 SubmittersRCV000482781 RCV002525806
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)	SNV Germline	Chr3:122262224	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA16617817	rs_1064794291	4 SubmittersRCV000684751 RCV002525831
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)	SNV Germline	Chr3:122284967	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569906	rs_201990892	4 SubmittersRCV000480370 RCV000543588 RCV002489155 RCV004023137
NM_000388.4(CASR):c.-10C>T	SNV Germline	Chr3:122254180	Conflicting classifications of pathogenicity	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism	Criteria Provided Conflicting Classifications	CA2569400	rs_753659949	3 SubmittersRCV001144835 RCV001144836 RCV000497412 RCV001146801 RCV001144834
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	SNV Germline	Chr3:122261693	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA354151065	rs_1482119762	6 SubmittersRCV000542291 RCV000498127 RCV002289683 RCV002496905
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)	SNV Germline	Chr3:122282177	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA354156245	rs_1553768726	2 SubmittersRCV000498268 RCV003766803
NM_000388.4(CASR):c.707G>T (p.Cys236Phe)	SNV Germline	Chr3:122261742	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354151177	rs_1057518616	3 SubmittersRCV000517605 RCV001851427
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)	SNV Germline	Chr3:122283999	Conflicting classifications of pathogenicity	not specified Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications	CA354158373	rs_1553768989	4 SubmittersRCV000516779 RCV001309382 RCV004791507
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)	SNV Germline	Chr3:122284157	Conflicting classifications of pathogenicity	not specified Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354159015	rs_1553769052	2 SubmittersRCV000518562 RCV003766911
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu)	SNV Germline	Chr3:122284503	Conflicting classifications of pathogenicity	Nephrolithiasis/nephrocalcinosis not specified Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569831	rs_373819680	4 SubmittersRCV004023499 RCV000518164 RCV002527462 RCV004820856
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	SNV Germline	Chr3:122261694	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354151067	rs_1202110240	4 SubmittersRCV000639448 RCV000523669 RCV003983103 RCV004023533
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)	SNV Germline	Chr3:122254229	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Condition: not provided Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 not specified	Criteria Provided Conflicting Classifications	CA2569406	rs_199515839	5 SubmittersRCV000524604 RCV004023965 RCV001770431 RCV002483414 RCV003320679
NM_000388.4(CASR):c.1287C>T (p.His429=)	SNV Germline	Chr3:122262322	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569618	rs_746515147	3 SubmittersRCV000592085 RCV001086571 RCV004023930
NM_000388.4(CASR):c.2237C>T (p.Ala746Val)	SNV Germline	Chr3:122284191	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569800	rs_139417576	4 SubmittersRCV000539780 RCV003387877 RCV004023948 RCV004758704
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)	SNV Germline	Chr3:122284010	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569776	rs_753013993	3 SubmittersRCV000525289 RCV002483412 RCV004023945
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly)	SNV Germline	Chr3:122285147	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569945	rs_185453682	2 SubmittersRCV000558070 RCV004023963
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)	SNV Germline	Chr3:122261814	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569534	rs_200386687	5 SubmittersRCV000545814 RCV001357374 RCV002483415 RCV003387878 RCV004023969
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn)	SNV Germline	Chr3:122262189	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354152707	rs_1553766867	2 SubmittersRCV002231729 RCV004023928
NM_000388.4(CASR):c.1297G>C (p.Asp433His)	SNV Germline	Chr3:122262332	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569620	rs_199511990	5 SubmittersRCV002231730 RCV002476144 RCV003448320 RCV004023931 RCV004554798
NM_000388.4(CASR):c.1510G>A (p.Val504Met)	SNV Germline	Chr3:122275944	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA2569670	rs_201536450	4 SubmittersRCV000531852 RCV002476145 RCV004023935 RCV003987594
NM_000388.4(CASR):c.2229C>T (p.Leu743=)	SNV Germline	Chr3:122284183	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA82748819	rs_372578790	3 SubmittersRCV000593760 RCV001499746 RCV004024729
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)	SNV Germline	Chr3:122262198	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA2569604	rs_377282860	5 SubmittersRCV000592651 RCV002506433 RCV004024815 RCV000799519
NM_000388.4(CASR):c.733C>T (p.Gln245Ter)	SNV Germline	Chr3:122261768	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA354151236	rs_1553766768	1 SubmittersRCV002234007
NM_000388.4(CASR):c.853C>T (p.Arg285Trp)	SNV Germline	Chr3:122261888	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354151495	rs_1553766800	2 SubmittersRCV000639446 RCV004025552
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	SNV Germline	Chr3:122261714	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA354151112	rs_1085307984	5 SubmittersRCV000639467 RCV000657571 RCV002499075
NM_000388.4(CASR):c.1110G>A (p.Val370=)	SNV Germline	Chr3:122262145	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569593	rs_150412204	4 SubmittersRCV000733764 RCV001085773 RCV004025557
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)	SNV Germline	Chr3:122283990	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354158355	rs_1553768983	2 SubmittersRCV001816589 RCV002232607
NM_000388.4(CASR):c.2255G>A (p.Arg752His)	SNV Germline	Chr3:122284209	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569805	rs_771529256	3 SubmittersRCV000639441 RCV001147997 RCV001147999 RCV001147998 RCV001148000 RCV004025549
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser)	SNV Germline	Chr3:122284539	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569836	rs_201328344	2 SubmittersRCV000639469 RCV004025562
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)	SNV Germline	Chr3:122285188	Conflicting classifications of pathogenicity	Condition: not provided Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569950	rs_556263764	4 SubmittersRCV000711040 RCV001149875 RCV001149876 RCV001087594 RCV001145541 RCV001145542 RCV004025574
NM_000388.4(CASR):c.492+5T>A	SNV Germline	Chr3:122257392	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_200277155	3 SubmittersRCV000699862 RCV002268260 RCV004026491
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)	SNV Germline	Chr3:122284163	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_200318708	3 SubmittersRCV002233255 RCV002485666 RCV004025167
NM_000388.4(CASR):c.445G>A (p.Val149Ile)	SNV Germline	Chr3:122257340	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_749288251	2 SubmittersRCV000691472 RCV004025089
NM_000388.4(CASR):c.638C>T (p.Ala213Val)	SNV Germline	Chr3:122261673	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1559958979	2 SubmittersRCV002232821 RCV003326509
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)	SNV Germline	Chr3:122284721	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_201517907	5 SubmittersRCV000692774 RCV000987313 RCV000998129 RCV004025131
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile)	SNV Germline	Chr3:122284875	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_774943243	2 SubmittersRCV002233594 RCV004025214
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	SNV Germline	Chr3:122254290	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications		rs_1559955362	4 SubmittersRCV000711027 RCV001231195 RCV003225115
NM_000388.4(CASR):c.888C>T (p.Ser296=)	SNV Germline	Chr3:122261923	Conflicting classifications of pathogenicity	Condition: not provided Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications		rs_759988398	3 SubmittersRCV000728736 RCV004026952 RCV001868935
NM_000388.4(CASR):c.1609-27C>T	SNV Germline	Chr3:122282086	Conflicting classifications of pathogenicity	Generalized hypotonia Seizure Chorea Brachycephaly Global developmental delay Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications		rs_4678175	2 SubmittersRCV000735384 RCV003768258
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	SNV Germline	Chr3:122262209	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1559959758	5 SubmittersRCV000760418 RCV003768284
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	SNV Germline	Chr3:122284257	Conflicting classifications of pathogenicity	Condition: not provided Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_201858689	5 SubmittersRCV001759477 RCV000781967 RCV001238616 RCV004554824 RCV004027327
NM_000388.4(CASR):c.33G>A (p.Leu11=)	SNV Germline	Chr3:122254222	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1302047092	2 SubmittersRCV000808692 RCV004028651
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)	SNV Germline	Chr3:122254287	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_758232331	3 SubmittersRCV000819914 RCV002487826 RCV004029018
NM_000388.4(CASR):c.197G>A (p.Arg66His)	SNV Germline	Chr3:122257092	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1276839362	3 SubmittersRCV000806048 RCV002264984 RCV004028231
NM_000388.4(CASR):c.870C>T (p.Gly290=)	SNV Germline	Chr3:122261905	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1576858604	2 SubmittersRCV000808216 RCV004028642
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp)	SNV Germline	Chr3:122284219	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_201366240	2 SubmittersRCV000819937 RCV004029021
NM_000388.4(CASR):c.2356A>G (p.Ile786Val)	SNV Germline	Chr3:122284310	Conflicting classifications of pathogenicity	not specified Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_371882068	4 SubmittersRCV002268300 RCV000809088 RCV004028659 RCV004693333
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr3:122284592	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_763865303	3 SubmittersRCV000808986 RCV002501095 RCV004028657
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile)	SNV Germline	Chr3:122285033	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_776184769	2 SubmittersRCV000816419 RCV004028888
NM_000388.4(CASR):c.493-2A>G	SNV Germline	Chr3:122261526	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter		rs_1576857818	1 SubmittersRCV000808448
NM_000388.4(CASR):c.2829G>A (p.Gln943=)	SNV Germline	Chr3:122284783	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_764614440	3 SubmittersRCV000876684 RCV002290487 RCV004027877
NM_000388.4(CASR):c.108G>A (p.Gly36=)	SNV Germline	Chr3:122254297	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_781573002	3 SubmittersRCV000920998 RCV001151041 RCV001151043 RCV001151044 RCV001151042 RCV004029461
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)	SNV Germline	Chr3:122262285	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications		rs_1576859379	4 SubmittersRCV000991735 RCV001858739 RCV004030128 RCV004554842
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	SNV Germline	Chr3:122282168	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1576875819	5 SubmittersRCV000991738 RCV001323851 RCV002236001 RCV004030129
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys)	SNV Germline	Chr3:122262054	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_768228172	2 SubmittersRCV001214695 RCV004030290
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	SNV Germline	Chr3:122282174	Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter		rs_1576875835	2 SubmittersRCV001030007 RCV001208343
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	SNV Germline	Chr3:122254355	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1358793834	4 SubmittersRCV001039545 RCV001536112 RCV002473169 RCV004031110
NM_000388.4(CASR):c.1108G>A (p.Val370Met)	SNV Germline	Chr3:122262143	Conflicting classifications of pathogenicity	Condition: not provided Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications		rs_2074634164	3 SubmittersRCV002462291 RCV004031662 RCV001052865
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	SNV Germline	Chr3:122283698	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2074920676	2 SubmittersRCV001058244 RCV004726846
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala)	SNV Germline	Chr3:122284970	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1381478610	2 SubmittersRCV001066657 RCV004599241
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)	SNV Germline	Chr3:122285177	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_748855270	2 SubmittersRCV001046019 RCV004031420
NM_000388.4(CASR):c.1609-2A>G	SNV Germline	Chr3:122282111	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts		rs_761084315	2 SubmittersRCV001059152 RCV004031870
NM_000388.4(CASR):c.1458G>A (p.Val486=)	SNV Germline	Chr3:122275892	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_2074812399	2 SubmittersRCV001217976 RCV004601397
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)	SNV Germline	Chr3:122283937	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter		rs_2074926931	1 SubmittersRCV001210848
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	SNV Germline	Chr3:122284197	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications		rs_193922433	4 SubmittersRCV001205771 RCV001289357 RCV002272407 RCV003323817
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)	SNV Germline	Chr3:122284610	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1559969429	2 SubmittersRCV001204429 RCV002268449
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	SNV Germline	Chr3:122261688	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2074624616	4 SubmittersRCV001233279 RCV002497795 RCV003486972 RCV003482350
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)	SNV Germline	Chr3:122284253	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts		rs_2074935748	2 SubmittersRCV001233441 RCV003353236
NM_000388.4(CASR):c.493-2A>C	SNV Germline	Chr3:122261526	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts		rs_1576857818	2 SubmittersRCV001229857 RCV003339542
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)	SNV Germline	Chr3:122257281	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications		rs_2074565392	2 SubmittersRCV001253113 RCV002570523
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	SNV Germline	Chr3:122257274	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2074565202	6 SubmittersRCV001255709 RCV001586094 RCV002480873 RCV003365296 RCV004731110
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)	SNV Germline	Chr3:122284383	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided		rs_2074938472	1 SubmittersRCV001255963
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)	SNV Germline	Chr3:122282165	Likely pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided		rs_2074897929	1 SubmittersRCV001280870
NM_000388.4(CASR):c.776T>C (p.Ile259Thr)	SNV Germline	Chr3:122261811	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1200068518	3 SubmittersRCV001305672 RCV004699292 RCV004036365
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn)	SNV Germline	Chr3:122284962	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_2074950882	2 SubmittersRCV001302899 RCV004994391
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)	SNV Germline	Chr3:122284979	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1256856876	3 SubmittersRCV001321440 RCV001820012 RCV004995679
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile)	SNV Germline	Chr3:122285177	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_748855270	2 SubmittersRCV001352523 RCV004036689
NM_002067.5(GNA11):c.138C>T (p.Gly46=)	SNV Germline	Chr19:3110150	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2	Criteria Provided Conflicting Classifications		rs_776843648	2 SubmittersRCV001345476 RCV002486405
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu)	SNV Germline	Chr3:122283897	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_757736220	2 SubmittersRCV001373982 RCV004037594
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)	SNV Germline	Chr3:122262411	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2107633334	3 SubmittersRCV001379696 RCV001664859
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	SNV Germline	Chr3:122275959	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_193922423	3 SubmittersRCV001377998 RCV004699352 RCV004793471
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	SNV Germline	Chr3:122262091	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2107632822	4 SubmittersRCV001384283 RCV001587390 RCV004554860
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)	SNV Germline	Chr3:122262116	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter		rs_2107632860	1 SubmittersRCV001382148
NM_000388.4(CASR):c.1732+10C>T	SNV Germline	Chr3:122282246	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_201859314	2 SubmittersRCV001450683 RCV001664883
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)	SNV Germline	Chr3:122261589	Conflicting classifications of pathogenicity	not specified Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_104893689	3 SubmittersRCV001526960 RCV003771627 RCV004793510
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	SNV Germline	Chr3:122257104	Pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Bartter syndrome with hypocalcemia Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts		rs_2107627458	3 SubmittersRCV001535770 RCV001873792 RCV003399331
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)	SNV Germline	Chr3:122283855	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications		rs_2107649591	3 SubmittersRCV001663820 RCV002032660
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	SNV Germline	Chr3:122284460	Likely pathogenic	Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2107650629	3 SubmittersRCV001730102 RCV002477905 RCV002265031
NM_000388.4(CASR):c.1378-1G>C	SNV Germline	Chr3:122275811	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts		rs_2074810403	2 SubmittersRCV001825078 RCV002542765
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter)	SNV Germline	Chr3:122284730	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2107651172	2 SubmittersRCV001989418 RCV003320262
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)	SNV Germline	Chr3:122283962	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter		rs_2074927550	1 SubmittersRCV001912618
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg)	SNV Germline	Chr3:122282149	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter		rs_2107648261	1 SubmittersRCV001970738
NM_002067.5(GNA11):c.605+10G>A	SNV Germline	Chr19:3115082	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2	Criteria Provided Conflicting Classifications		rs_535105766	3 SubmittersRCV002029797 RCV002478083
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile)	SNV Germline	Chr3:122284994	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_202219108	2 SubmittersRCV001982642 RCV004043704
NM_000388.4(CASR):c.1377+1G>T	SNV Germline	Chr3:122262413	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter		rs_2074639464	1 SubmittersRCV001976004
NM_000388.4(CASR):c.2446A>G (p.Ile816Val)	SNV Germline	Chr3:122284400	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2107650518	3 SubmittersRCV001978102 RCV002471208 RCV004999584
NM_000388.4(CASR):c.1893G>A (p.Leu631=)	SNV Germline	Chr3:122283847	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_2107649583	2 SubmittersRCV001977082 RCV004045271
NM_000388.4(CASR):c.349C>T (p.Gln117Ter)	SNV Germline	Chr3:122257244	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2107627659	2 SubmittersRCV002007310 RCV002512168
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)	SNV Germline	Chr3:122257267	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_757571398	3 SubmittersRCV001998641 RCV002236386 RCV002473345
NM_000388.4(CASR):c.384C>G (p.Phe128Leu)	SNV Germline	Chr3:122257279	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1553766262	2 SubmittersRCV001939580 RCV004044367
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)	SNV Germline	Chr3:122275976	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter		rs_2074814252	1 SubmittersRCV001994850
NM_000388.4(CASR):c.186-2A>G	SNV Germline	Chr3:122257079	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter		rs_1350886416	1 SubmittersRCV001931897
NM_000388.4(CASR):c.493-19T>G	SNV Germline	Chr3:122261509	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201735609	2 SubmittersRCV001955805 RCV004999563
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)	SNV Germline	Chr3:122283962	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia	Criteria Provided Multiple Submitters No Conflicts		rs_2074927550	2 SubmittersRCV002026824 RCV004690232
NM_000388.4(CASR):c.3120G>T (p.Gln1040His)	SNV Germline	Chr3:122285074	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_2107651962	2 SubmittersRCV002021117 RCV004046840
NM_000388.4(CASR):c.2148C>T (p.Arg716=)	SNV Germline	Chr3:122284102	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_2107650027	2 SubmittersRCV002001641 RCV004990541
NM_000388.4(CASR):c.2065G>A (p.Val689Met)	SNV Germline	Chr3:122284019	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2107649885	3 SubmittersRCV002271885 RCV003101539 RCV004999684
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)	SNV Germline	Chr3:122284470	Likely pathogenic	Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter		rs_2107650645	1 SubmittersRCV002272633
NM_000388.4(CASR):c.1608+1G>A	SNV Germline	Chr3:122276043	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003774406 RCV004057455
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)	SNV Germline	Chr3:122254259	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003088759
NM_000388.4(CASR):c.2T>G (p.Met1Arg)	SNV Germline	Chr3:122254191	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV002651721
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)	SNV Germline	Chr3:122261694	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV002651722
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)	SNV Germline	Chr3:122261769	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV002651723
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)	SNV Germline	Chr3:122275975	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002651725 RCV003156401
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)	SNV Germline	Chr3:122284136	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002651729 RCV004596568
NM_000388.4(CASR):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:122254191	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002877444 RCV003388129
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)	SNV Germline	Chr3:122283792	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV002895283
NM_000388.4(CASR):c.1377+1G>A	SNV Germline	Chr3:122262413	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003033614
NM_000388.4(CASR):c.186-1G>A	SNV Germline	Chr3:122257080	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003056245
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)	SNV Germline	Chr3:122257267	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV003315132 RCV003777287
NM_000388.4(CASR):c.186-1G>C	SNV Germline	Chr3:122257080	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003783439
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)	SNV Germline	Chr3:122261604	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV003781012 RCV004783110
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)	SNV Germline	Chr3:122261717	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003781014
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)	SNV Germline	Chr3:122283774	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003781017
NM_000388.4(CASR):c.492+2T>C	SNV Germline	Chr3:122257389	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003787797
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)	SNV Germline	Chr3:122261913	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003802771
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)	SNV Germline	Chr3:122257084	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003803400
NM_000388.4(CASR):c.1608+2T>C	SNV Germline	Chr3:122276044	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003800841
NM_000388.4(CASR):c.185+1G>A	SNV Germline	Chr3:122254375	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003800980
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)	SNV Germline	Chr3:122262138	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003809331
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)	SNV Germline	Chr3:122262083	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003813634
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)	SNV Germline	Chr3:122261696	Pathogenic	Autosomal dominant hypocalcemia	Criteria Provided Single Submitter			1 SubmittersRCV003994928
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)	SNV Germline	Chr3:122257290	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Single Submitter			1 SubmittersRCV004795767

NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)

SNV
Germline

Chr3:122284337

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119467

rs_121909258

4 SubmittersRCV000008810 RCV000517736 RCV000793559 RCV001199039

NM_000388.4(CASR):c.889G>A (p.Glu297Lys)

SNV
Germline

Chr3:122261924

Pathogenic

Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA119469

rs_121909259

2 SubmittersRCV000008811 RCV000008812 RCV002228021

NM_000388.4(CASR):c.554G>A (p.Arg185Gln)

SNV
Germline

Chr3:122261589

Pathogenic

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119471

rs_104893689

15 SubmittersRCV000008814 RCV000008813 RCV000412784 RCV000627760 RCV001804716 RCV002496307 RCV004554586

NM_000388.4(CASR):c.380A>C (p.Glu127Ala)

SNV
Germline

Chr3:122257275

Pathogenic

Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119473

rs_121909260

4 SubmittersRCV000008815 RCV000489583 RCV001060775 RCV002482842

NM_000388.4(CASR):c.680G>T (p.Arg227Leu)

SNV
Germline

Chr3:122261715

Pathogenic

Neonatal severe primary hyperparathyroidism
CASR-related disorder
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119475

rs_28936684

5 SubmittersRCV000008818 RCV004554587 RCV001384282 RCV004791198

NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)

SNV
Germline

Chr3:122283699

Pathogenic

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA119477

rs_104893690

2 SubmittersRCV000008819 RCV000477640

NM_000388.4(CASR):c.2043G>T (p.Gln681His)

SNV
Germline

Chr3:122283997

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119479

rs_121909261

1 SubmittersRCV000008821

NM_000388.4(CASR):c.346G>A (p.Ala116Thr)

SNV
Germline

Chr3:122257241

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA119481

rs_104893691

3 SubmittersRCV000008822 RCV001818146 RCV004991967

NM_000388.4(CASR):c.452C>T (p.Thr151Met)

SNV
Germline

Chr3:122257347

Pathogenic

Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119485

rs_104893694

5 SubmittersRCV000008824 RCV001818147 RCV001851746

NM_000388.4(CASR):c.354C>A (p.Asn118Lys)

SNV
Germline

Chr3:122257249

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119487

rs_104893695

1 SubmittersRCV000008825

NM_000388.4(CASR):c.382T>C (p.Phe128Leu)

SNV
Germline

Chr3:122257277

Pathogenic

Autosomal dominant hypocalcemia 1
CASR-related disorder

No Assertion Criteria Provided

CA119489

rs_104893696

2 SubmittersRCV000008827 RCV004758591

NM_000388.4(CASR):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr3:122261606

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119491

rs_104893697

1 SubmittersRCV000008828

NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)

SNV
Germline

Chr3:122283789

Likely pathogenic

Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Single Submitter

CA119493

rs_104893698

2 SubmittersRCV000008829 RCV004018592

NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)

SNV
Germline

Chr3:122284272

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119495

rs_104893699

1 SubmittersRCV000008830

NM_000388.4(CASR):c.680G>A (p.Arg227Gln)

SNV
Germline

Chr3:122261715

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212891

rs_28936684

7 SubmittersRCV000008833 RCV000524505 RCV000516668 RCV002265551 RCV002496308 RCV004018593 RCV004554588

NM_000388.4(CASR):c.413C>T (p.Thr138Met)

SNV
Germline

Chr3:122257308

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Condition: not provided
CASR-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA119501

rs_121909263

6 SubmittersRCV000008834 RCV002228022 RCV002476947 RCV003480025 RCV004554589 RCV004018594

NM_000388.4(CASR):c.428G>A (p.Gly143Glu)

SNV
Germline

Chr3:122257323

Pathogenic

Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA119503

rs_121909264

4 SubmittersRCV000008835 RCV000549803 RCV000498830 RCV002271366

NM_000388.4(CASR):c.196C>T (p.Arg66Cys)

SNV
Germline

Chr3:122257091

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA119507

rs_121909266

4 SubmittersRCV000008837 RCV000498645 RCV001851747 RCV003398474

NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)

SNV
Germline

Chr3:122284317

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA119509

rs_104893701

4 SubmittersRCV000008838 RCV001851748 RCV004018595

NM_000388.4(CASR):c.141A>C (p.Lys47Asn)

SNV
Germline

Chr3:122254330

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119511

rs_104893702

1 SubmittersRCV000008839

NM_000388.4(CASR):c.1846C>G (p.Leu616Val)

SNV
Germline

Chr3:122283800

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119513

rs_104893703

1 SubmittersRCV000008840

NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)

SNV
Germline

Chr3:122284595

Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA119515

rs_104893704

2 SubmittersRCV000008842 RCV000549191

NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)

SNV
Germline

Chr3:122283896

Pathogenic

Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA119517

rs_104893705

4 SubmittersRCV000008843 RCV000054484 RCV003764537 RCV004018596

NM_000388.4(CASR):c.186-1G>T

SNV
Germline

Chr3:122257080

Pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA212893

rs_797044441

3 SubmittersRCV000008845 RCV001390066 RCV004018597

NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)

SNV
Germline

Chr3:122284482

Likely pathogenic

Bartter syndrome with hypocalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA119519

rs_104893706

2 SubmittersRCV000008847 RCV000054480

NM_000388.4(CASR):c.553C>T (p.Arg185Ter)

SNV
Germline

Chr3:122261588

Pathogenic

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119523

rs_104893707

3 SubmittersRCV000008850 RCV001040159

NM_000388.4(CASR):c.374T>C (p.Leu125Pro)

SNV
Germline

Chr3:122257269

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
Condition: not provided
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA119525

rs_104893708

5 SubmittersRCV000008851 RCV000190877 RCV001781207 RCV002482843 RCV003764538

NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)

SNV
Germline

Chr3:122284413

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119527

rs_104893710

1 SubmittersRCV000008852

NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)

SNV
Germline

Chr3:122284316

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119529

rs_104893711

1 SubmittersRCV000008853

NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr3:122283764

Pathogenic

Autosomal dominant hypocalcemia 1
Condition: not provided
Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119533

rs_104893712

9 SubmittersRCV000008855 RCV000414467 RCV001804717 RCV001851749 RCV003343599 RCV004554590

NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)

SNV
Germline

Chr3:122275828

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA119537

rs_104893716

5 SubmittersRCV000008857 RCV000459271 RCV003482226 RCV004018600

NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)

SNV
Germline

Chr3:122284134

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA119541

rs_104893718

1 SubmittersRCV000008859

NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)

SNV
Germline

Chr3:122262093

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA213557

rs_193922419

2 SubmittersRCV000029425 RCV001852587

NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)

SNV
Germline

Chr3:122275959

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA213564

rs_193922423

3 SubmittersRCV000029430 RCV001070010 RCV001659729

NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)

SNV
Germline

Chr3:122283968

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA213577

rs_193922431

2 SubmittersRCV000029438 RCV003764636

NM_000388.4(CASR):c.206G>A (p.Arg69His)

SNV
Germline

Chr3:122257101

Pathogenic/Likely pathogenic

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA213579

rs_193922432

6 SubmittersRCV000029439 RCV000465400 RCV000518959 RCV002247396 RCV004601088

NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)

SNV
Germline

Chr3:122285045

Conflicting classifications of pathogenicity

not specified
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA213597

rs_142704083

6 SubmittersRCV000503233 RCV000987315 RCV001085495 RCV004018682

NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu)

SNV
Germline

Chr19:3121122

Pathogenic

Autosomal dominant hypocalcemia 2

No Assertion Criteria Provided

CA144606

rs_140749796

1 SubmittersRCV000054477

NM_002067.5(GNA11):c.178C>T (p.Arg60Cys)

SNV
Germline

Chr19:3110190

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 2
Autosomal dominant hypocalcemia 2
Familial hypocalciuric hypercalcemia 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144607

rs_587777021

3 SubmittersRCV000054478 RCV002504951 RCV001853077

NM_002067.5(GNA11):c.632C>G (p.Ser211Trp)

SNV
Germline

Chr19:3118950

Pathogenic

Autosomal dominant hypocalcemia 2

No Assertion Criteria Provided

CA144608

rs_587777022

1 SubmittersRCV000054479

NM_000388.4(CASR):c.662C>T (p.Pro221Leu)

SNV
Germline

Chr3:122261697

Pathogenic

Autosomal dominant hypocalcemia 1
Condition: not provided
Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144609

rs_397514728

10 SubmittersRCV000054481 RCV000518374 RCV001797617 RCV001384281 RCV003343624 RCV002490628 RCV004554695

NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)

SNV
Germline

Chr3:122262227

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
not specified
Hereditary cancer-predisposing syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA216118

rs_201177696

8 SubmittersRCV000054614 RCV001083262 RCV001818230 RCV002255127 RCV004018970

NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)

SNV
Germline

Chr3:122284731

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA216130

rs_200263975

7 SubmittersRCV000054620 RCV000225899 RCV004018974 RCV004554696

NM_000388.4(CASR):c.740C>T (p.Ser247Phe)

SNV
Germline

Chr3:122261775

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA216140

rs_200382161

4 SubmittersRCV000054625 RCV000469248 RCV004018975

NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)

SNV
Germline

Chr19:3110191

Pathogenic

Autosomal dominant hypocalcemia 2

No Assertion Criteria Provided

CA170731

rs_587777707

1 SubmittersRCV000144048

NM_000388.4(CASR):c.114T>C (p.Phe38=)

SNV
Germline

Chr3:122254303

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA238601

rs_61733590

3 SubmittersRCV000173116 RCV001086519 RCV004020055

NM_000388.4(CASR):c.2901C>A (p.Ile967=)

SNV
Germline

Chr3:122284855

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA246560

rs_199594582

4 SubmittersRCV000179298 RCV001084514 RCV004020144 RCV004554744

NM_000388.4(CASR):c.427G>A (p.Gly143Arg)

SNV
Germline

Chr3:122257322

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2569467

rs_769256610

5 SubmittersRCV000226673 RCV003114394 RCV002472975 RCV004601135 RCV004758675

NM_000388.4(CASR):c.854G>A (p.Arg285Gln)

SNV
Germline

Chr3:122261889

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10582120

rs_200039241

4 SubmittersRCV000231296 RCV000274163 RCV002494625 RCV004020762

NM_000388.4(CASR):c.1188A>G (p.Thr396=)

SNV
Germline

Chr3:122262223

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569608

rs_200312817

5 SubmittersRCV000233360 RCV001149345 RCV001149346 RCV001149347 RCV001149348 RCV003144169 RCV004020749 RCV004554754

NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)

SNV
Germline

Chr3:122282135

Conflicting classifications of pathogenicity

not specified
Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Hereditary cancer-predisposing syndrome
Nephrolithiasis/nephrocalcinosis
Epilepsy, idiopathic generalized, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA2569716

rs_115230894

14 SubmittersRCV000251515 RCV000281394 RCV000312098 RCV000337880 RCV000390791 RCV000727289 RCV001081459 RCV002255323 RCV004020752 RCV001838993

NM_000388.4(CASR):c.1752G>A (p.Lys584=)

SNV
Germline

Chr3:122283706

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Nephrolithiasis/nephrocalcinosis
Hereditary cancer-predisposing syndrome
Condition: not provided
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569741

rs_138638329

6 SubmittersRCV000227311 RCV000317362 RCV000259904 RCV000323277 RCV000380231 RCV004020753 RCV002255324 RCV003311719 RCV004554756

NM_000388.4(CASR):c.2039G>A (p.Arg680His)

SNV
Germline

Chr3:122283993

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2569773

rs_773146939

5 SubmittersRCV000231951 RCV000991741 RCV002494624 RCV003235152

NM_000388.4(CASR):c.2064C>T (p.Phe688=)

SNV
Germline

Chr3:122284018

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism
Neonatal severe primary hyperparathyroidism
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Hereditary cancer-predisposing syndrome
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569778

rs_150869744

7 SubmittersRCV000302845 RCV000347538 RCV000359832 RCV000395248 RCV000711032 RCV001080668 RCV002255325 RCV002267979 RCV004020756

NM_000388.4(CASR):c.1733-9A>G

SNV
Germline

Chr3:122283678

Conflicting classifications of pathogenicity

not specified
Familial hypoparathyroidism
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA2569740

rs_190731787

4 SubmittersRCV000249281 RCV000265913 RCV000271263 RCV000310035 RCV000357824 RCV000549471

NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)

SNV
Germline

Chr3:122283867

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA10588349

rs_201852643

3 SubmittersRCV000255744 RCV003317177 RCV001855012

NM_000388.4(CASR):c.164C>T (p.Pro55Leu)

SNV
Germline

Chr3:122254353

Pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10602861

rs_886041154

7 SubmittersRCV000401051 RCV000815977 RCV002469093 RCV003982979 RCV004021054

NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)

SNV
Germline

Chr3:122282134

Pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10602891

rs_886041637

4 SubmittersRCV000279142 RCV002272201 RCV004021067 RCV002229733

NM_000388.4(CASR):c.885C>T (p.Ala295=)

SNV
Germline

Chr3:122261920

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569555

rs_147307274

4 SubmittersRCV000290827 RCV001087362 RCV004021076

NM_000388.4(CASR):c.3132G>A (p.Val1044=)

SNV
Germline

Chr3:122285086

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569937

rs_755277801

3 SubmittersRCV000400310 RCV001084533 RCV004021153

NM_000388.4(CASR):c.60C>T (p.Tyr20=)

SNV
Germline

Chr3:122254249

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Familial hypoparathyroidism
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569413

rs_201564143

6 SubmittersRCV000315565 RCV001087642 RCV001147693 RCV001147692 RCV001147694 RCV001147691 RCV004021177 RCV004554760

NM_000388.4(CASR):c.1074C>T (p.Cys358=)

SNV
Germline

Chr3:122262109

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA10606496

rs_886044221

2 SubmittersRCV000345377 RCV003765668

NM_000388.4(CASR):c.1665T>C (p.Ile555=)

SNV
Germline

Chr3:122282169

Conflicting classifications of pathogenicity

Familial hypoparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569721

rs_201955278

3 SubmittersRCV000306403 RCV000363520 RCV000369153 RCV000397082 RCV000560070 RCV004021878

NM_000388.4(CASR):c.1923C>T (p.Pro641=)

SNV
Germline

Chr3:122283877

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Familial hypoparathyroidism
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10614603

rs_368093724

3 SubmittersRCV000309043 RCV000296195 RCV000404234 RCV000343864 RCV001493729 RCV004601159

NM_000388.4(CASR):c.2915C>T (p.Thr972Met)

SNV
Germline

Chr3:122284869

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569889

rs_200620134

8 SubmittersRCV000288087 RCV000345436 RCV000383567 RCV000525899 RCV000664401 RCV000711038 RCV004021880

NM_000388.4(CASR):c.3168G>T (p.Val1056=)

SNV
Germline

Chr3:122285122

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
CASR-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10614607

rs_886057831

4 SubmittersRCV000281252 RCV000317589 RCV000372191 RCV000376313 RCV000884515 RCV004554764 RCV004021883

NM_000388.4(CASR):c.3054C>T (p.Cys1018=)

SNV
Germline

Chr3:122285008

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569925

rs_371038712

3 SubmittersRCV000271192 RCV000324970 RCV000328611 RCV000363417 RCV001861205 RCV004021882

NM_000388.4(CASR):c.-111C>A

SNV
Germline

Chr3:122254079

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA10616927

rs_201098532

1 SubmittersRCV000295877 RCV000350815 RCV000385290 RCV000405462

NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)

SNV
Germline

Chr3:122262043

Conflicting classifications of pathogenicity

Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569573

rs_548403340

3 SubmittersRCV000270421 RCV000276416 RCV000333822 RCV000362753 RCV001309597 RCV004021877

NM_000388.4(CASR):c.2955C>T (p.Asn985=)

SNV
Germline

Chr3:122284909

Conflicting classifications of pathogenicity

Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569898

rs_199884115

3 SubmittersRCV000291642 RCV000305011 RCV000340015 RCV000405908 RCV000466799 RCV004021881

NM_000388.4(CASR):c.-154T>A

SNV
Germline

Chr3:122254036

Conflicting classifications of pathogenicity

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Familial hypoparathyroidism
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA10616994

rs_186365367

1 SubmittersRCV000266252 RCV000267261 RCV000321148 RCV000380375

NM_000388.4(CASR):c.6A>C (p.Ala2=)

SNV
Germline

Chr3:122254195

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
not specified
Hereditary cancer-predisposing syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569403

rs_112042188

6 SubmittersRCV000303092 RCV000306453 RCV000347434 RCV000395613 RCV000461937 RCV000731195 RCV002256219 RCV004021874

NM_000388.4(CASR):c.930C>T (p.Tyr310=)

SNV
Germline

Chr3:122261965

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569563

rs_201737357

3 SubmittersRCV000311839 RCV000354303 RCV000368865 RCV000394262 RCV000954359 RCV004021876

NM_000388.4(CASR):c.73C>T (p.Arg25Ter)

SNV
Germline

Chr3:122254262

Pathogenic/Likely pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
CASR-related calcium metabolism disorders
Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

CA2569414

rs_201633414

10 SubmittersRCV000413560 RCV000457695 RCV003333060 RCV004022152 RCV004786676 RCV004586698

NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)

SNV
Germline

Chr3:122262218

Likely pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042449

rs_1057517712

2 SubmittersRCV000413522 RCV002523905

NM_000388.4(CASR):c.2449G>A (p.Val817Ile)

SNV
Germline

Chr3:122284403

Likely pathogenic

Hypercalcemia
Parathyroid gland adenoma
Hypertrophic cardiomyopathy
Hypocalciuria
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

CA16043395

rs_1057518933

6 SubmittersRCV000415394 RCV000991745 RCV001379697 RCV003401408 RCV002488857

NM_000388.4(CASR):c.2431A>G (p.Met811Val)

SNV
Germline

Chr3:122284385

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA16604354

rs_1057521129

2 SubmittersRCV000440135 RCV002519527

NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)

SNV
Germline

Chr3:122284611

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16604355

rs_1057520791

5 SubmittersRCV000694836 RCV000443461 RCV000664400

NM_000388.4(CASR):c.514A>G (p.Arg172Gly)

SNV
Germline

Chr3:122261549

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16604425

rs_201851934

3 SubmittersRCV000434715 RCV000705547

NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)

SNV
Germline

Chr3:122284359

Pathogenic/Likely pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
CASR-related disorder
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2569822

rs_140022350

6 SubmittersRCV000433842 RCV000700033 RCV002488902 RCV004554774 RCV003993953

NM_000388.4(CASR):c.532A>G (p.Asn178Asp)

SNV
Germline

Chr3:122261567

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16611083

rs_1060502855

2 SubmittersRCV002230097 RCV002271503

NM_000388.4(CASR):c.848T>C (p.Ile283Thr)

SNV
Germline

Chr3:122261883

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Familial hypocalciuric hypercalcemia 1
not specified
CASR-related disorder
Nephrolithiasis/nephrocalcinosis
See cases

Criteria Provided
Conflicting Classifications

CA2569545

rs_142745096

13 SubmittersRCV000463689 RCV000493534 RCV001030008 RCV002268085 RCV004554781 RCV004022778 RCV004584387

NM_000388.4(CASR):c.57C>T (p.Ala19=)

SNV
Germline

Chr3:122254246

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569412

rs_761576251

3 SubmittersRCV000457477 RCV001770365 RCV004023006

NM_000388.4(CASR):c.757C>A (p.Gln253Lys)

SNV
Germline

Chr3:122261792

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569529

rs_202179597

3 SubmittersRCV000476640 RCV001553724 RCV004022758

NM_000388.4(CASR):c.1913G>A (p.Arg638His)

SNV
Germline

Chr3:122283867

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569760

rs_201852643

4 SubmittersRCV000459788 RCV004022764 RCV002489065 RCV004554780

NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)

SNV
Germline

Chr3:122283992

Pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2569772

rs_767363250

3 SubmittersRCV001289355 RCV002307504 RCV002230400

NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)

SNV
Germline

Chr3:122284347

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611130

rs_1060502856

4 SubmittersRCV000474973 RCV002265771 RCV002465660

NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)

SNV
Germline

Chr3:122275827

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Nephrolithiasis/nephrocalcinosis
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA2569651

rs_751217000

6 SubmittersRCV000991736 RCV000468370 RCV001824137 RCV004022772 RCV003323549

NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)

SNV
Germline

Chr3:122282156

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA16611307

rs_1060502861

1 SubmittersRCV000465116

NM_000388.4(CASR):c.61G>A (p.Gly21Arg)

SNV
Germline

Chr3:122254250

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA16617810

rs_1064794290

5 SubmittersRCV000484137 RCV000527853 RCV004992259

NM_000388.4(CASR):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr3:122261612

Pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16617814

rs_1064793992

2 SubmittersRCV000482781 RCV002525806

NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)

SNV
Germline

Chr3:122262224

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA16617817

rs_1064794291

4 SubmittersRCV000684751 RCV002525831

NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)

SNV
Germline

Chr3:122284967

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569906

rs_201990892

4 SubmittersRCV000480370 RCV000543588 RCV002489155 RCV004023137

NM_000388.4(CASR):c.-10C>T

SNV
Germline

Chr3:122254180

Conflicting classifications of pathogenicity

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypoparathyroidism

Criteria Provided
Conflicting Classifications

CA2569400

rs_753659949

3 SubmittersRCV001144835 RCV001144836 RCV000497412 RCV001146801 RCV001144834

NM_000388.4(CASR):c.658C>T (p.Arg220Trp)

SNV
Germline

Chr3:122261693

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

CA354151065

rs_1482119762

6 SubmittersRCV000542291 RCV000498127 RCV002289683 RCV002496905

NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)

SNV
Germline

Chr3:122282177

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA354156245

rs_1553768726

2 SubmittersRCV000498268 RCV003766803

NM_000388.4(CASR):c.707G>T (p.Cys236Phe)

SNV
Germline

Chr3:122261742

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA354151177

rs_1057518616

3 SubmittersRCV000517605 RCV001851427

NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)

SNV
Germline

Chr3:122283999

Conflicting classifications of pathogenicity

not specified
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354158373

rs_1553768989

4 SubmittersRCV000516779 RCV001309382 RCV004791507

NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)

SNV
Germline

Chr3:122284157

Conflicting classifications of pathogenicity

not specified
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA354159015

rs_1553769052

2 SubmittersRCV000518562 RCV003766911

NM_000388.4(CASR):c.2549C>A (p.Ala850Glu)

SNV
Germline

Chr3:122284503

Conflicting classifications of pathogenicity

Nephrolithiasis/nephrocalcinosis
not specified
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1

Criteria Provided
Conflicting Classifications

CA2569831

rs_373819680

4 SubmittersRCV004023499 RCV000518164 RCV002527462 RCV004820856

NM_000388.4(CASR):c.659G>A (p.Arg220Gln)

SNV
Germline

Chr3:122261694

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354151067

rs_1202110240

4 SubmittersRCV000639448 RCV000523669 RCV003983103 RCV004023533

NM_000388.4(CASR):c.40A>G (p.Thr14Ala)

SNV
Germline

Chr3:122254229

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
Condition: not provided
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
not specified

Criteria Provided
Conflicting Classifications

CA2569406

rs_199515839

5 SubmittersRCV000524604 RCV004023965 RCV001770431 RCV002483414 RCV003320679

NM_000388.4(CASR):c.1287C>T (p.His429=)

SNV
Germline

Chr3:122262322

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569618

rs_746515147

3 SubmittersRCV000592085 RCV001086571 RCV004023930

NM_000388.4(CASR):c.2237C>T (p.Ala746Val)

SNV
Germline

Chr3:122284191

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
not specified
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569800

rs_139417576

4 SubmittersRCV000539780 RCV003387877 RCV004023948 RCV004758704

NM_000388.4(CASR):c.2056A>G (p.Ile686Val)

SNV
Germline

Chr3:122284010

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569776

rs_753013993

3 SubmittersRCV000525289 RCV002483412 RCV004023945

NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly)

SNV
Germline

Chr3:122285147

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569945

rs_185453682

2 SubmittersRCV000558070 RCV004023963

NM_000388.4(CASR):c.779A>G (p.Gln260Arg)

SNV
Germline

Chr3:122261814

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569534

rs_200386687

5 SubmittersRCV000545814 RCV001357374 RCV002483415 RCV003387878 RCV004023969

NM_000388.4(CASR):c.1154G>A (p.Ser385Asn)

SNV
Germline

Chr3:122262189

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354152707

rs_1553766867

2 SubmittersRCV002231729 RCV004023928

NM_000388.4(CASR):c.1297G>C (p.Asp433His)

SNV
Germline

Chr3:122262332

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569620

rs_199511990

5 SubmittersRCV002231730 RCV002476144 RCV003448320 RCV004023931 RCV004554798

NM_000388.4(CASR):c.1510G>A (p.Val504Met)

SNV
Germline

Chr3:122275944

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
not specified

Criteria Provided
Conflicting Classifications

CA2569670

rs_201536450

4 SubmittersRCV000531852 RCV002476145 RCV004023935 RCV003987594

NM_000388.4(CASR):c.2229C>T (p.Leu743=)

SNV
Germline

Chr3:122284183

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA82748819

rs_372578790

3 SubmittersRCV000593760 RCV001499746 RCV004024729

NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)

SNV
Germline

Chr3:122262198

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA2569604

rs_377282860

5 SubmittersRCV000592651 RCV002506433 RCV004024815 RCV000799519

NM_000388.4(CASR):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr3:122261768

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA354151236

rs_1553766768

1 SubmittersRCV002234007

NM_000388.4(CASR):c.853C>T (p.Arg285Trp)

SNV
Germline

Chr3:122261888

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354151495

rs_1553766800

2 SubmittersRCV000639446 RCV004025552

NM_000388.4(CASR):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr3:122261714

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8

Criteria Provided
Multiple Submitters
No Conflicts

CA354151112

rs_1085307984

5 SubmittersRCV000639467 RCV000657571 RCV002499075

NM_000388.4(CASR):c.1110G>A (p.Val370=)

SNV
Germline

Chr3:122262145

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569593

rs_150412204

4 SubmittersRCV000733764 RCV001085773 RCV004025557

NM_000388.4(CASR):c.2036T>G (p.Leu679Arg)

SNV
Germline

Chr3:122283990

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA354158355

rs_1553768983

2 SubmittersRCV001816589 RCV002232607

NM_000388.4(CASR):c.2255G>A (p.Arg752His)

SNV
Germline

Chr3:122284209

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569805

rs_771529256

3 SubmittersRCV000639441 RCV001147997 RCV001147999 RCV001147998 RCV001148000 RCV004025549

NM_000388.4(CASR):c.2585T>C (p.Phe862Ser)

SNV
Germline

Chr3:122284539

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569836

rs_201328344

2 SubmittersRCV000639469 RCV004025562

NM_000388.4(CASR):c.3234A>T (p.Ser1078=)

SNV
Germline

Chr3:122285188

Conflicting classifications of pathogenicity

Condition: not provided
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569950

rs_556263764

4 SubmittersRCV000711040 RCV001149875 RCV001149876 RCV001087594 RCV001145541 RCV001145542 RCV004025574

NM_000388.4(CASR):c.492+5T>A

SNV
Germline

Chr3:122257392

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_200277155

3 SubmittersRCV000699862 RCV002268260 RCV004026491

NM_000388.4(CASR):c.2209G>A (p.Val737Ile)

SNV
Germline

Chr3:122284163

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_200318708

3 SubmittersRCV002233255 RCV002485666 RCV004025167

NM_000388.4(CASR):c.445G>A (p.Val149Ile)

SNV
Germline

Chr3:122257340

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_749288251

2 SubmittersRCV000691472 RCV004025089

NM_000388.4(CASR):c.638C>T (p.Ala213Val)

SNV
Germline

Chr3:122261673

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559958979

2 SubmittersRCV002232821 RCV003326509

NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)

SNV
Germline

Chr3:122284721

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_201517907

5 SubmittersRCV000692774 RCV000987313 RCV000998129 RCV004025131

NM_000388.4(CASR):c.2921C>T (p.Thr974Ile)

SNV
Germline

Chr3:122284875

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_774943243

2 SubmittersRCV002233594 RCV004025214

NM_000388.4(CASR):c.101T>C (p.Leu34Pro)

SNV
Germline

Chr3:122254290

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Conflicting Classifications

rs_1559955362

4 SubmittersRCV000711027 RCV001231195 RCV003225115

NM_000388.4(CASR):c.888C>T (p.Ser296=)

SNV
Germline

Chr3:122261923

Conflicting classifications of pathogenicity

Condition: not provided
Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

rs_759988398

3 SubmittersRCV000728736 RCV004026952 RCV001868935

NM_000388.4(CASR):c.1609-27C>T

SNV
Germline

Chr3:122282086

Conflicting classifications of pathogenicity

Generalized hypotonia
Seizure
Chorea
Brachycephaly
Global developmental delay
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

rs_4678175

2 SubmittersRCV000735384 RCV003768258

NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)

SNV
Germline

Chr3:122262209

Pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559959758

5 SubmittersRCV000760418 RCV003768284

NM_000388.4(CASR):c.2303G>T (p.Gly768Val)

SNV
Germline

Chr3:122284257

Conflicting classifications of pathogenicity

Condition: not provided
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
CASR-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_201858689

5 SubmittersRCV001759477 RCV000781967 RCV001238616 RCV004554824 RCV004027327

NM_000388.4(CASR):c.33G>A (p.Leu11=)

SNV
Germline

Chr3:122254222

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1302047092

2 SubmittersRCV000808692 RCV004028651

NM_000388.4(CASR):c.98T>G (p.Ile33Ser)

SNV
Germline

Chr3:122254287

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_758232331

3 SubmittersRCV000819914 RCV002487826 RCV004029018

NM_000388.4(CASR):c.197G>A (p.Arg66His)

SNV
Germline

Chr3:122257092

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1276839362

3 SubmittersRCV000806048 RCV002264984 RCV004028231

NM_000388.4(CASR):c.870C>T (p.Gly290=)

SNV
Germline

Chr3:122261905

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1576858604

2 SubmittersRCV000808216 RCV004028642

NM_000388.4(CASR):c.2265G>T (p.Glu755Asp)

SNV
Germline

Chr3:122284219

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_201366240

2 SubmittersRCV000819937 RCV004029021

NM_000388.4(CASR):c.2356A>G (p.Ile786Val)

SNV
Germline

Chr3:122284310

Conflicting classifications of pathogenicity

not specified
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371882068

4 SubmittersRCV002268300 RCV000809088 RCV004028659 RCV004693333

NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)

SNV
Germline

Chr3:122284592

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_763865303

3 SubmittersRCV000808986 RCV002501095 RCV004028657

NM_000388.4(CASR):c.3079G>A (p.Val1027Ile)

SNV
Germline

Chr3:122285033

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_776184769

2 SubmittersRCV000816419 RCV004028888

NM_000388.4(CASR):c.493-2A>G

SNV
Germline

Chr3:122261526

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

rs_1576857818

1 SubmittersRCV000808448

NM_000388.4(CASR):c.2829G>A (p.Gln943=)

SNV
Germline

Chr3:122284783

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_764614440

3 SubmittersRCV000876684 RCV002290487 RCV004027877

NM_000388.4(CASR):c.108G>A (p.Gly36=)

SNV
Germline

Chr3:122254297

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypoparathyroidism
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_781573002

3 SubmittersRCV000920998 RCV001151041 RCV001151043 RCV001151044 RCV001151042 RCV004029461

NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)

SNV
Germline

Chr3:122262285

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

rs_1576859379

4 SubmittersRCV000991735 RCV001858739 RCV004030128 RCV004554842

NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)

SNV
Germline

Chr3:122282168

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576875819

5 SubmittersRCV000991738 RCV001323851 RCV002236001 RCV004030129

NM_000388.4(CASR):c.1019G>A (p.Arg340Lys)

SNV
Germline

Chr3:122262054

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_768228172

2 SubmittersRCV001214695 RCV004030290

NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)

SNV
Germline

Chr3:122282174

Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

rs_1576875835

2 SubmittersRCV001030007 RCV001208343

NM_000388.4(CASR):c.166G>T (p.Glu56Ter)

SNV
Germline

Chr3:122254355

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1358793834

4 SubmittersRCV001039545 RCV001536112 RCV002473169 RCV004031110

NM_000388.4(CASR):c.1108G>A (p.Val370Met)

SNV
Germline

Chr3:122262143

Conflicting classifications of pathogenicity

Condition: not provided
Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

rs_2074634164

3 SubmittersRCV002462291 RCV004031662 RCV001052865

NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)

SNV
Germline

Chr3:122283698

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074920676

2 SubmittersRCV001058244 RCV004726846

NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala)

SNV
Germline

Chr3:122284970

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1381478610

2 SubmittersRCV001066657 RCV004599241

NM_000388.4(CASR):c.3223G>T (p.Val1075Leu)

SNV
Germline

Chr3:122285177

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_748855270

2 SubmittersRCV001046019 RCV004031420

NM_000388.4(CASR):c.1609-2A>G

SNV
Germline

Chr3:122282111

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_761084315

2 SubmittersRCV001059152 RCV004031870

NM_000388.4(CASR):c.1458G>A (p.Val486=)

SNV
Germline

Chr3:122275892

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_2074812399

2 SubmittersRCV001217976 RCV004601397

NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)

SNV
Germline

Chr3:122283937

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

rs_2074926931

1 SubmittersRCV001210848

NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)

SNV
Germline

Chr3:122284197

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

rs_193922433

4 SubmittersRCV001205771 RCV001289357 RCV002272407 RCV003323817

NM_000388.4(CASR):c.2656C>T (p.Arg886Trp)

SNV
Germline

Chr3:122284610

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559969429

2 SubmittersRCV001204429 RCV002268449

NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)

SNV
Germline

Chr3:122261688

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074624616

4 SubmittersRCV001233279 RCV002497795 RCV003486972 RCV003482350

NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)

SNV
Germline

Chr3:122284253

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074935748

2 SubmittersRCV001233441 RCV003353236

NM_000388.4(CASR):c.493-2A>C

SNV
Germline

Chr3:122261526

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576857818

2 SubmittersRCV001229857 RCV003339542

NM_000388.4(CASR):c.386G>A (p.Cys129Tyr)

SNV
Germline

Chr3:122257281

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

rs_2074565392

2 SubmittersRCV001253113 RCV002570523

NM_000388.4(CASR):c.379G>A (p.Glu127Lys)

SNV
Germline

Chr3:122257274

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 1
Condition: not provided
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074565202

6 SubmittersRCV001255709 RCV001586094 RCV002480873 RCV003365296 RCV004731110

NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)

SNV
Germline

Chr3:122284383

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

rs_2074938472

1 SubmittersRCV001255963

NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)

SNV
Germline

Chr3:122282165

Likely pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

rs_2074897929

1 SubmittersRCV001280870

NM_000388.4(CASR):c.776T>C (p.Ile259Thr)

SNV
Germline

Chr3:122261811

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1200068518

3 SubmittersRCV001305672 RCV004699292 RCV004036365

NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn)

SNV
Germline

Chr3:122284962

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_2074950882

2 SubmittersRCV001302899 RCV004994391

NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)

SNV
Germline

Chr3:122284979

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1256856876

3 SubmittersRCV001321440 RCV001820012 RCV004995679

NM_000388.4(CASR):c.3223G>A (p.Val1075Ile)

SNV
Germline

Chr3:122285177

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_748855270

2 SubmittersRCV001352523 RCV004036689

NM_002067.5(GNA11):c.138C>T (p.Gly46=)

SNV
Germline

Chr19:3110150

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 2
Familial hypocalciuric hypercalcemia 2

Criteria Provided
Conflicting Classifications

rs_776843648

2 SubmittersRCV001345476 RCV002486405

NM_000388.4(CASR):c.1943G>T (p.Arg648Leu)

SNV
Germline

Chr3:122283897

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_757736220

2 SubmittersRCV001373982 RCV004037594

NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)

SNV
Germline

Chr3:122262411

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107633334

3 SubmittersRCV001379696 RCV001664859

NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)

SNV
Germline

Chr3:122275959

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922423

3 SubmittersRCV001377998 RCV004699352 RCV004793471

NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)

SNV
Germline

Chr3:122262091

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided
CASR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107632822

4 SubmittersRCV001384283 RCV001587390 RCV004554860

NM_000388.4(CASR):c.1081C>T (p.Gln361Ter)

SNV
Germline

Chr3:122262116

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

rs_2107632860

1 SubmittersRCV001382148

NM_000388.4(CASR):c.1732+10C>T

SNV
Germline

Chr3:122282246

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201859314

2 SubmittersRCV001450683 RCV001664883

NM_000388.4(CASR):c.554G>T (p.Arg185Leu)

SNV
Germline

Chr3:122261589

Conflicting classifications of pathogenicity

not specified
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_104893689

3 SubmittersRCV001526960 RCV003771627 RCV004793510

NM_000388.4(CASR):c.209G>A (p.Trp70Ter)

SNV
Germline

Chr3:122257104

Pathogenic

Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107627458

3 SubmittersRCV001535770 RCV001873792 RCV003399331

NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)

SNV
Germline

Chr3:122283855

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

rs_2107649591

3 SubmittersRCV001663820 RCV002032660

NM_000388.4(CASR):c.2506G>T (p.Val836Leu)

SNV
Germline

Chr3:122284460

Likely pathogenic

Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107650629

3 SubmittersRCV001730102 RCV002477905 RCV002265031

NM_000388.4(CASR):c.1378-1G>C

SNV
Germline

Chr3:122275811

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074810403

2 SubmittersRCV001825078 RCV002542765

NM_000388.4(CASR):c.2776C>T (p.Gln926Ter)

SNV
Germline

Chr3:122284730

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2107651172

2 SubmittersRCV001989418 RCV003320262

NM_000388.4(CASR):c.2008G>C (p.Gly670Arg)

SNV
Germline

Chr3:122283962

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

rs_2074927550

1 SubmittersRCV001912618

NM_000388.4(CASR):c.1645G>A (p.Gly549Arg)

SNV
Germline

Chr3:122282149

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

rs_2107648261

1 SubmittersRCV001970738

NM_002067.5(GNA11):c.605+10G>A

SNV
Germline

Chr19:3115082

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 2
Familial hypocalciuric hypercalcemia 2

Criteria Provided
Conflicting Classifications

rs_535105766

3 SubmittersRCV002029797 RCV002478083

NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile)

SNV
Germline

Chr3:122284994

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_202219108

2 SubmittersRCV001982642 RCV004043704

NM_000388.4(CASR):c.1377+1G>T

SNV
Germline

Chr3:122262413

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

rs_2074639464

1 SubmittersRCV001976004

NM_000388.4(CASR):c.2446A>G (p.Ile816Val)

SNV
Germline

Chr3:122284400

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2107650518

3 SubmittersRCV001978102 RCV002471208 RCV004999584

NM_000388.4(CASR):c.1893G>A (p.Leu631=)

SNV
Germline

Chr3:122283847

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_2107649583

2 SubmittersRCV001977082 RCV004045271

NM_000388.4(CASR):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr3:122257244

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107627659

2 SubmittersRCV002007310 RCV002512168

NM_000388.4(CASR):c.372C>A (p.Asn124Lys)

SNV
Germline

Chr3:122257267

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757571398

3 SubmittersRCV001998641 RCV002236386 RCV002473345

NM_000388.4(CASR):c.384C>G (p.Phe128Leu)

SNV
Germline

Chr3:122257279

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553766262

2 SubmittersRCV001939580 RCV004044367

NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter)

SNV
Germline

Chr3:122275976

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

rs_2074814252

1 SubmittersRCV001994850

NM_000388.4(CASR):c.186-2A>G

SNV
Germline

Chr3:122257079

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

rs_1350886416

1 SubmittersRCV001931897

NM_000388.4(CASR):c.493-19T>G

SNV
Germline

Chr3:122261509

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201735609

2 SubmittersRCV001955805 RCV004999563

NM_000388.4(CASR):c.2008G>A (p.Gly670Arg)

SNV
Germline

Chr3:122283962

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2074927550

2 SubmittersRCV002026824 RCV004690232

NM_000388.4(CASR):c.3120G>T (p.Gln1040His)

SNV
Germline

Chr3:122285074

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_2107651962

2 SubmittersRCV002021117 RCV004046840

NM_000388.4(CASR):c.2148C>T (p.Arg716=)

SNV
Germline

Chr3:122284102

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_2107650027

2 SubmittersRCV002001641 RCV004990541

NM_000388.4(CASR):c.2065G>A (p.Val689Met)

SNV
Germline

Chr3:122284019

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2107649885

3 SubmittersRCV002271885 RCV003101539 RCV004999684

NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)

SNV
Germline

Chr3:122284470

Likely pathogenic

Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

rs_2107650645

1 SubmittersRCV002272633

NM_000388.4(CASR):c.1608+1G>A

SNV
Germline

Chr3:122276043

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003774406 RCV004057455

NM_000388.4(CASR):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr3:122254259

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003088759

NM_000388.4(CASR):c.2T>G (p.Met1Arg)

SNV
Germline

Chr3:122254191

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV002651721

NM_000388.4(CASR):c.659G>C (p.Arg220Pro)

SNV
Germline

Chr3:122261694

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV002651722

NM_000388.4(CASR):c.734A>G (p.Gln245Arg)

SNV
Germline

Chr3:122261769

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV002651723

NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)

SNV
Germline

Chr3:122275975

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002651725 RCV003156401

NM_000388.4(CASR):c.2182G>T (p.Val728Phe)

SNV
Germline

Chr3:122284136

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002651729 RCV004596568

NM_000388.4(CASR):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:122254191

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002877444 RCV003388129

NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)

SNV
Germline

Chr3:122283792

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV002895283

NM_000388.4(CASR):c.1377+1G>A

SNV
Germline

Chr3:122262413

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003033614

NM_000388.4(CASR):c.186-1G>A

SNV
Germline

Chr3:122257080

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003056245

NM_000388.4(CASR):c.372C>G (p.Asn124Lys)

SNV
Germline

Chr3:122257267

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003315132 RCV003777287

NM_000388.4(CASR):c.186-1G>C

SNV
Germline

Chr3:122257080

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003783439

NM_000388.4(CASR):c.569A>G (p.Asp190Gly)

SNV
Germline

Chr3:122261604

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003781012 RCV004783110

NM_000388.4(CASR):c.682G>C (p.Glu228Gln)

SNV
Germline

Chr3:122261717

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003781014

NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)

SNV
Germline

Chr3:122283774

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003781017

NM_000388.4(CASR):c.492+2T>C

SNV
Germline

Chr3:122257389

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003787797

NM_000388.4(CASR):c.878G>A (p.Trp293Ter)

SNV
Germline

Chr3:122261913

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003802771

NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)

SNV
Germline

Chr3:122257084

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003803400

NM_000388.4(CASR):c.1608+2T>C

SNV
Germline

Chr3:122276044

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003800841

NM_000388.4(CASR):c.185+1G>A

SNV
Germline

Chr3:122254375

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003800980

NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)

SNV
Germline

Chr3:122262138

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003809331

NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)

SNV
Germline

Chr3:122262083

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003813634

NM_000388.4(CASR):c.661C>T (p.Pro221Ser)

SNV
Germline

Chr3:122261696

Pathogenic

Autosomal dominant hypocalcemia

Criteria Provided
Single Submitter

1 SubmittersRCV003994928

NM_000388.4(CASR):c.395C>A (p.Ser132Ter)

SNV
Germline

Chr3:122257290

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Epilepsy, idiopathic generalized, susceptibility to, 8

Criteria Provided
Single Submitter

1 SubmittersRCV004795767