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 Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA119467	rs_121909258	5 SubmittersRCV000008810 RCV001199039 RCV000517736 RCV000793559 RCV005241233
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)	SNV Germline	Chr3:122261924	Pathogenic	Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	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 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119471	rs_104893689	15 SubmittersRCV000008814 RCV000008813 RCV000412784 RCV002496307 RCV000627760 RCV001804716 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 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119475	rs_28936684	5 SubmittersRCV000008818 RCV001384282 RCV004554587 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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119485	rs_104893694	5 SubmittersRCV000008824 RCV001851746 RCV001818147
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	Likely pathogenic	Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Single Submitter	CA119491	rs_104893697	2 SubmittersRCV000008828 RCV005025034
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 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia CASR-related disorder Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA212891	rs_28936684	7 SubmittersRCV000008833 RCV000516668 RCV000524505 RCV002265551 RCV004554588 RCV002496308 RCV004018593
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	SNV Germline	Chr3:122257308	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 CASR-related disorder Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA119501	rs_121909263	7 SubmittersRCV000008834 RCV004554589 RCV003480025 RCV005430927 RCV002476947 RCV004018594 RCV002228022
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)	SNV Germline	Chr3:122257323	Pathogenic	Familial hypocalciuric hypercalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA119503	rs_121909264	4 SubmittersRCV000008835 RCV000498830 RCV000549803 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 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA119507	rs_121909266	5 SubmittersRCV000008837 RCV000498645 RCV001851747 RCV003398474 RCV005025035
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 Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA119517	rs_104893705	4 SubmittersRCV000008843 RCV000054484 RCV004018596 RCV003764537
NM_000388.4(CASR):c.186-1G>T	SNV Germline	Chr3:122257080	Pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 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 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA119523	rs_104893707	4 SubmittersRCV000008850 RCV001040159 RCV005025036
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 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related disorder Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA119533	rs_104893712	10 SubmittersRCV000008855 RCV000414467 RCV001851749 RCV004554590 RCV005025037 RCV001804717 RCV003343599
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	SNV Germline	Chr3:122275828	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA119537	rs_104893716	6 SubmittersRCV000008857 RCV000459271 RCV003482226 RCV004018600 RCV005025038
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA213557	rs_193922419	2 SubmittersRCV000029425 RCV001852587
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)	SNV Germline	Chr3:122254295	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA213559	rs_193922420	6 SubmittersRCV000029426 RCV000341520 RCV000705981 RCV004018678
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	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.2254C>T (p.Arg752Cys)	SNV Germline	Chr3:122284208	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA213584	rs_193922434	4 SubmittersRCV000029442 RCV001753429 RCV002228056 RCV005246593
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)	SNV Germline	Chr3:122285045	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 not specified Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA213597	rs_142704083	6 SubmittersRCV000987315 RCV000503233 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 Condition: not provided Familial hypocalciuric hypercalcemia 2 Autosomal dominant hypocalcemia 2	Criteria Provided Multiple Submitters No Conflicts	CA144607	rs_587777021	3 SubmittersRCV000054478 RCV001853077 RCV002504951
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism CASR-related disorder Autosomal dominant hypocalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA144609	rs_397514728	11 SubmittersRCV000054481 RCV001384281 RCV000518374 RCV002490628 RCV004554695 RCV001797617 RCV003343624
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)	SNV Germline	Chr3:122262227	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA216118	rs_201177696	8 SubmittersRCV000054614 RCV002255127 RCV001083262 RCV001818230 RCV004018970
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)	SNV Germline	Chr3:122284731	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA216130	rs_200263975	7 SubmittersRCV000054620 RCV000225899 RCV004554696 RCV004018974
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 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA216140	rs_200382161	6 SubmittersRCV000054625 RCV005025108 RCV000469248 RCV004018975
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu)	SNV Germline	Chr19:3110191	Pathogenic	Autosomal dominant hypocalcemia 2 Condition: not provided	Criteria Provided Single Submitter	CA170731	rs_587777707	2 SubmittersRCV000144048 RCV005089664
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)	SNV Germline/somatic	Chr3:122285075	Conflicting classifications of pathogenicity	Prostate cancer Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA174089	rs_193921082	3 SubmittersRCV000149000 RCV000704147 RCV004019782
NM_000388.4(CASR):c.114T>C (p.Phe38=)	SNV Germline	Chr3:122254303	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA238601	rs_61733590	4 SubmittersRCV000173116 RCV001086519 RCV004020055 RCV005237643
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	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Condition: not provided CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2569467	rs_769256610	5 SubmittersRCV000226673 RCV003114394 RCV004601135 RCV002472975 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 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 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 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Condition: not provided Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569608	rs_200312817	5 SubmittersRCV000233360 RCV001149345 RCV001149347 RCV001149348 RCV001149346 RCV003144169 RCV004020749 RCV004554754
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)	SNV Germline	Chr3:122282135	Conflicting classifications of pathogenicity	not specified Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569716	rs_115230894	14 SubmittersRCV000251515 RCV000337880 RCV000312098 RCV000281394 RCV000390791 RCV000727289 RCV001081459 RCV002255323 RCV001838993 RCV004020752
NM_000388.4(CASR):c.1752G>A (p.Lys584=)	SNV Germline	Chr3:122283706	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 Hereditary cancer-predisposing syndrome Condition: not provided Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569741	rs_138638329	6 SubmittersRCV000227311 RCV000259904 RCV000317362 RCV000323277 RCV000380231 RCV002255324 RCV003311719 RCV004020753 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 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 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	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Hereditary cancer-predisposing syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569778	rs_150869744	7 SubmittersRCV000347538 RCV000302845 RCV000359832 RCV000395248 RCV000711032 RCV001080668 RCV002267979 RCV002255325 RCV004020756
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)	SNV Germline	Chr3:122284824	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569883	rs_150979829	4 SubmittersRCV000228722 RCV003144170 RCV004020757 RCV005031810
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified	Criteria Provided Conflicting Classifications	CA10588349	rs_201852643	3 SubmittersRCV000255744 RCV001855012 RCV003317177
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA10602891	rs_886041637	5 SubmittersRCV000279142 RCV002229733 RCV004021067 RCV005238817 RCV002272201
NM_000388.4(CASR):c.885C>T (p.Ala295=)	SNV Germline	Chr3:122261920	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 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 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569413	rs_201564143	6 SubmittersRCV000315565 RCV001147693 RCV001147694 RCV001087642 RCV001147691 RCV001147692 RCV004021177 RCV004554760
NM_000388.4(CASR):c.1074C>T (p.Cys358=)	SNV Germline	Chr3:122262109	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA2569721	rs_201955278	4 SubmittersRCV000306403 RCV000363520 RCV000369153 RCV000397082 RCV000560070 RCV004021878 RCV005238931
NM_000388.4(CASR):c.1923C>T (p.Pro641=)	SNV Germline	Chr3:122283877	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10614603	rs_368093724	3 SubmittersRCV000296195 RCV000309043 RCV000343864 RCV000404234 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 1 Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA2569889	rs_200620134	9 SubmittersRCV000288087 RCV000345436 RCV000383567 RCV000664401 RCV000711038 RCV000525899 RCV004021880 RCV005027445
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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA10614607	rs_886057831	4 SubmittersRCV000281252 RCV000317589 RCV000372191 RCV000376313 RCV000884515 RCV004021883 RCV004554764
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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Neonatal severe primary hyperparathyroidism Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA2569414	rs_201633414	11 SubmittersRCV000413560 RCV000457695 RCV003333060 RCV004586698 RCV004022152 RCV004786676 RCV005033929
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	SNV Germline	Chr3:122262218	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042449	rs_1057517712	2 SubmittersRCV002523905 RCV000413522
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	SNV Germline	Chr3:122284403	Likely pathogenic	Parathyroid gland adenoma Hypercalcemia Hypocalciuria Hypertrophic cardiomyopathy Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Condition: not provided Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA16043395	rs_1057518933	6 SubmittersRCV000415394 RCV001379697 RCV002488857 RCV000991745 RCV003401408
NM_000388.4(CASR):c.2431A>G (p.Met811Val)	SNV Germline	Chr3:122284385	Likely pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia	Criteria Provided Multiple Submitters No Conflicts	CA16604354	rs_1057521129	3 SubmittersRCV000440135 RCV002519527 RCV005238991
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)	SNV Germline	Chr3:122284611	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA16604355	rs_1057520791	5 SubmittersRCV000443461 RCV000664400 RCV000694836
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 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2569822	rs_140022350	6 SubmittersRCV000433842 RCV000700033 RCV003993953 RCV002488902 RCV004554774
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)	SNV Germline	Chr3:122261567	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Familial hypocalciuric hypercalcemia 1 not specified Nephrolithiasis/nephrocalcinosis CASR-related disorder See cases Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA2569545	rs_142745096	14 SubmittersRCV000463689 RCV000493534 RCV001030008 RCV002268085 RCV004022778 RCV004554781 RCV004584387 RCV005027527
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	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569760	rs_201852643	4 SubmittersRCV000459788 RCV002489065 RCV004022764 RCV004554780
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	SNV Germline	Chr3:122283992	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA2569772	rs_767363250	4 SubmittersRCV001289355 RCV002307504 RCV002230400 RCV005033986
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	SNV Germline	Chr3:122284347	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16611130	rs_1060502856	4 SubmittersRCV000474973 RCV002265771 RCV002465660
NM_000388.4(CASR):c.2687G>A (p.Arg896His)	SNV Germline	Chr3:122284641	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA16611132	rs_773552397	3 SubmittersRCV000468483 RCV002480419 RCV004022781
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)	SNV Germline	Chr3:122285009	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Nephrolithiasis/nephrocalcinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA16611138	rs_1060502848	4 SubmittersRCV000469103 RCV001527058 RCV004022765 RCV003226932
NM_000388.4(CASR):c.1826C>T (p.Thr609Met)	SNV Germline	Chr3:122283780	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569749	rs_759904153	2 SubmittersRCV000465141 RCV004022770
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	SNV Germline	Chr3:122275827	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569651	rs_751217000	6 SubmittersRCV000468370 RCV000991736 RCV001824137 RCV003323549 RCV004022772
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	SNV Germline	Chr3:122282156	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA16611307	rs_1060502861	1 SubmittersRCV000465116
NM_000388.4(CASR):c.2147G>A (p.Arg716His)	SNV Germline	Chr3:122284101	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA2569787	rs_201670662	5 SubmittersRCV000477532 RCV001145144 RCV001145145 RCV001145146 RCV002481457 RCV001147114 RCV004022774 RCV003226297
NM_000388.4(CASR):c.2437A>G (p.Ile813Val)	SNV Germline	Chr3:122284391	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569824	rs_746541034	4 SubmittersRCV000470797 RCV002481454 RCV004758691 RCV004022766
NM_000388.4(CASR):c.2672G>A (p.Arg891His)	SNV Germline	Chr3:122284626	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2569843	rs_533567836	2 SubmittersRCV000467153 RCV001764432
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 not specified Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA16617810	rs_1064794290	8 SubmittersRCV000484137 RCV000527853 RCV004992259 RCV005230940 RCV005250058 RCV005407139
NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	SNV Germline	Chr3:122261612	Pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	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 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA16617817	rs_1064794291	5 SubmittersRCV000684751 RCV002525831 RCV005027545
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)	SNV Germline	Chr3:122284967	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569906	rs_201990892	4 SubmittersRCV000480370 RCV000543588 RCV002489155 RCV004023137
NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)	SNV Germline	Chr3:122261684	Pathogenic/Likely pathogenic	Condition: not provided Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354151047	rs_201091657	3 SubmittersRCV000494358 RCV004992275 RCV005624408
NM_000388.4(CASR):c.-10C>T	SNV Germline	Chr3:122254180	Conflicting classifications of pathogenicity	Condition: not provided Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Familial hypoparathyroidism Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA2569400	rs_753659949	3 SubmittersRCV000497412 RCV001144835 RCV001144836 RCV001144834 RCV001146801
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	SNV Germline	Chr3:122261693	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Condition: not provided Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA354151065	rs_1482119762	8 SubmittersRCV000542291 RCV002289683 RCV000498127 RCV005252930 RCV002496905 RCV005239095
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)	SNV Germline	Chr3:122282177	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA354151177	rs_1057518616	3 SubmittersRCV000517605 RCV001851427
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)	SNV Germline	Chr3:122275900	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified	Criteria Provided Conflicting Classifications	CA354155147	rs_1553768108	3 SubmittersRCV000518357 RCV000691702 RCV002268137
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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	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	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569831	rs_373819680	4 SubmittersRCV002527462 RCV000518164 RCV004820856 RCV004023499
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	SNV Germline	Chr3:122261694	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354151067	rs_1202110240	4 SubmittersRCV000523669 RCV000639448 RCV004023533 RCV003983103
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)	SNV Germline	Chr3:122254229	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided not specified Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569406	rs_199515839	5 SubmittersRCV000524604 RCV001770431 RCV003320679 RCV002483414 RCV004023965
NM_000388.4(CASR):c.705C>A (p.Ile235=)	SNV Germline	Chr3:122261740	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569522	rs_199887150	4 SubmittersRCV000554069 RCV004023967 RCV004554803 RCV005027637
NM_000388.4(CASR):c.1011C>G (p.Val337=)	SNV Germline	Chr3:122262046	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569575	rs_201820733	3 SubmittersRCV000529823 RCV004023923 RCV005034095
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)	SNV Germline	Chr3:122285174	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569947	rs_775066593	3 SubmittersRCV000536379 RCV002497121 RCV004023964
NM_000388.4(CASR):c.220A>C (p.Met74Leu)	SNV Germline	Chr3:122257115	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 not specified Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569450	rs_745377913	8 SubmittersRCV000555584 RCV000711034 RCV002506333 RCV003403288 RCV004023947 RCV004554801
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)	SNV Germline	Chr3:122257203	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569458	rs_199734455	4 SubmittersRCV000543101 RCV000991748 RCV002491012 RCV004023962
NM_000388.4(CASR):c.1287C>T (p.His429=)	SNV Germline	Chr3:122262322	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Nephrolithiasis/nephrocalcinosis CASR-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2569800	rs_139417576	5 SubmittersRCV000539780 RCV003387877 RCV004023948 RCV004758704 RCV005231044
NM_000388.4(CASR):c.845A>G (p.Glu282Gly)	SNV Germline	Chr3:122261880	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569544	rs_751540983	3 SubmittersRCV000545591 RCV002223862 RCV004023971
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)	SNV Germline	Chr3:122262126	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569589	rs_200771541	3 SubmittersRCV000537669 RCV000764462 RCV004023926
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)	SNV Germline	Chr3:122284010	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569776	rs_753013993	3 SubmittersRCV000525289 RCV002483412 RCV004023945
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)	SNV Germline	Chr3:122261814	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA2569534	rs_200386687	5 SubmittersRCV000545814 RCV001357374 RCV002483415 RCV004023969 RCV003387878
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn)	SNV Germline	Chr3:122262189	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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	Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569620	rs_199511990	5 SubmittersRCV002476144 RCV002231730 RCV003448320 RCV004023931 RCV004554798
NM_000388.4(CASR):c.1510G>A (p.Val504Met)	SNV Germline	Chr3:122275944	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis not specified Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA2569670	rs_201536450	6 SubmittersRCV000531852 RCV002476145 RCV004023935 RCV003987594 RCV005357582
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys)	SNV Germline	Chr3:122276007	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569681	rs_199688157	3 SubmittersRCV000546736 RCV004023936 RCV004758703
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)	SNV Germline	Chr3:122284505	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis CASR-related disorder	Criteria Provided Conflicting Classifications	CA2569832	rs_200777304	4 SubmittersRCV000535785 RCV002476146 RCV004023952 RCV004554802
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala)	SNV Germline	Chr3:122284950	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA82749408	rs_201052958	2 SubmittersRCV002231743 RCV004023960
NM_000388.4(CASR):c.2229C>T (p.Leu743=)	SNV Germline	Chr3:122284183	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569604	rs_377282860	5 SubmittersRCV000592651 RCV000799519 RCV002506433 RCV004024815
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	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354151495	rs_1553766800	2 SubmittersRCV000639446 RCV004025552
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)	SNV Germline	Chr3:122282126	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA2569715	rs_201202700	4 SubmittersRCV000639424 RCV002507088 RCV004025541 RCV005240369
NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	SNV Germline	Chr3:122261714	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354151112	rs_1085307984	5 SubmittersRCV000639467 RCV002499075 RCV000657571
NM_000388.4(CASR):c.1110G>A (p.Val370=)	SNV Germline	Chr3:122262145	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569593	rs_150412204	4 SubmittersRCV001085773 RCV000733764 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	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569805	rs_771529256	4 SubmittersRCV000639441 RCV001147997 RCV001147998 RCV001148000 RCV005034214 RCV001147999 RCV004025549
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)	SNV Germline	Chr3:122285188	Conflicting classifications of pathogenicity	Familial hypoparathyroidism Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569950	rs_556263764	5 SubmittersRCV001145541 RCV001149875 RCV001149876 RCV004025574 RCV000711040 RCV001087594 RCV001145542
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	CA2569476	rs_200277155	4 SubmittersRCV000699862 RCV002268260 RCV004026491
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)	SNV Germline	Chr3:122284163	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569792	rs_200318708	3 SubmittersRCV002485666 RCV002233255 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 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2569469	rs_749288251	3 SubmittersRCV000691472 RCV004025089 RCV005027854
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser)	SNV Germline	Chr3:122285057	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569932	rs_762383457	2 SubmittersRCV000697929 RCV004026420
NM_000388.4(CASR):c.494T>G (p.Val165Gly)	SNV Germline	Chr3:122261529	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Bartter syndrome with hypocalcemia Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354150710	rs_1559958757	4 SubmittersRCV000686284 RCV003483704 RCV003387911 RCV004026232
NM_000388.4(CASR):c.638C>T (p.Ala213Val)	SNV Germline	Chr3:122261673	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications	CA354151025	rs_1559958979	2 SubmittersRCV002232821 RCV003326509
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)	SNV Germline	Chr3:122284721	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569861	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	CA2569891	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 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA354362134	rs_1559955362	4 SubmittersRCV000711027 RCV001231195 RCV003225115
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)	SNV Germline	Chr3:122284065	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA354158592	rs_1559968657	2 SubmittersRCV000711033 RCV001053679
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)	SNV Germline	Chr3:122284994	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA82749487	rs_202219108	4 SubmittersRCV000711039 RCV001376143 RCV000795756 RCV004026795
NM_000388.4(CASR):c.888C>T (p.Ser296=)	SNV Germline	Chr3:122261923	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2569556	rs_759988398	4 SubmittersRCV000728736 RCV001868935 RCV004026952 RCV005027900
NM_000388.4(CASR):c.1609-27C>T	SNV Germline	Chr3:122282086	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications	CA2569708	rs_4678175	2 SubmittersRCV003768258 RCV005251208
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	SNV Germline	Chr3:122262209	Pathogenic	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA354152750	rs_1559959758	5 SubmittersRCV000760418 RCV003768284
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	SNV Germline	Chr3:122284257	Conflicting classifications of pathogenicity	Neonatal severe primary hyperparathyroidism Condition: not provided Nephrolithiasis/nephrocalcinosis CASR-related disorder Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA2569812	rs_201858689	6 SubmittersRCV000781967 RCV001759477 RCV004027327 RCV004554824 RCV005029438 RCV001238616
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)	SNV Germline	Chr3:122254287	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569420	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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA354362364	rs_1276839362	4 SubmittersRCV005240595 RCV000806048 RCV002264984 RCV004028231
NM_000388.4(CASR):c.232A>G (p.Ile78Val)	SNV Germline	Chr3:122257127	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569451	rs_769294626	3 SubmittersRCV000801127 RCV002487694 RCV004028051
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	CA435424501	rs_1576858604	2 SubmittersRCV000808216 RCV004028642
NM_000388.4(CASR):c.1861G>A (p.Val621Met)	SNV Germline	Chr3:122283815	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569754	rs_751538967	3 SubmittersRCV000817623 RCV003396435 RCV004028920
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)	SNV Germline	Chr3:122283981	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1	Criteria Provided Conflicting Classifications	CA2569770	rs_768204447	4 SubmittersRCV000793144 RCV002290430 RCV004027435 RCV002477802
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp)	SNV Germline	Chr3:122284219	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA2569807	rs_201366240	3 SubmittersRCV000819937 RCV004029021 RCV005036213
NM_000388.4(CASR):c.2356A>G (p.Ile786Val)	SNV Germline	Chr3:122284310	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569819	rs_371882068	4 SubmittersRCV000809088 RCV002268300 RCV004693333 RCV004028659
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)	SNV Germline	Chr3:122284592	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2569839	rs_763865303	3 SubmittersRCV000808986 RCV004028657 RCV002501095
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr)	SNV Germline	Chr3:122284757	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism not specified	Criteria Provided Conflicting Classifications	CA82749257	rs_201449422	4 SubmittersRCV000818154 RCV004028945 RCV005029506 RCV004689897
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	CA2569929	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	CA354150701	rs_1576857818	1 SubmittersRCV000808448
NM_000388.4(CASR):c.2829G>A (p.Gln943=)	SNV Germline	Chr3:122284783	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569873	rs_764614440	3 SubmittersRCV000876684 RCV002290487 RCV004027877
NM_000388.4(CASR):c.108G>A (p.Gly36=)	SNV Germline	Chr3:122254297	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Familial hypoparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569421	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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 CASR-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354152917	rs_1576859379	4 SubmittersRCV000991735 RCV001858739 RCV004554842 RCV004030128
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	SNV Germline	Chr3:122282168	Pathogenic/Likely pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA354156225	rs_1576875819	5 SubmittersRCV000991738 RCV001323851 RCV002236001 RCV004030129
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys)	SNV Germline	Chr3:122262054	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569577	rs_768228172	2 SubmittersRCV001214695 RCV004030290
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	SNV Germline	Chr3:122282174	Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA354156238	rs_1576875835	2 SubmittersRCV001030007 RCV001208343
NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	SNV Germline	Chr3:122254355	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA354362273	rs_1358793834	4 SubmittersRCV001039545 RCV001536112 RCV002473169 RCV004031110
NM_000388.4(CASR):c.1108G>A (p.Val370Met)	SNV Germline	Chr3:122262143	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354152604	rs_2074634164	3 SubmittersRCV001052865 RCV002462291 RCV004031662
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)	SNV Germline	Chr3:122262167	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA82738897	rs_201338034	3 SubmittersRCV001046969 RCV002481930 RCV004031460
NM_000388.4(CASR):c.1663A>G (p.Ile555Val)	SNV Germline	Chr3:122282167	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2569720	rs_777646067	3 SubmittersRCV001037938 RCV002465826 RCV005235504
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	SNV Germline	Chr3:122283698	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354157111	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	CA354161274	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 not specified	Criteria Provided Conflicting Classifications	CA354161816	rs_748855270	3 SubmittersRCV001046019 RCV004031420 RCV005232081
NM_000388.4(CASR):c.1609-2A>G	SNV Germline	Chr3:122282111	Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354156106	rs_761084315	2 SubmittersRCV004031870 RCV001059152
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter)	SNV Germline	Chr3:122283937	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354158235	rs_2074926931	1 SubmittersRCV001210848
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	SNV Germline	Chr3:122284197	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Familial hypocalciuric hypercalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354159168	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	CA354160501	rs_1559969429	2 SubmittersRCV001204429 RCV002268449
NM_000388.4(CASR):c.652T>C (p.Tyr218His)	SNV Germline	Chr3:122261687	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354151052	rs_1057520583	2 SubmittersRCV005251259 RCV001238160
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	SNV Germline	Chr3:122261688	Pathogenic/Likely pathogenic	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 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354151055	rs_2074624616	4 SubmittersRCV001233279 RCV002497795 RCV003486972 RCV003482350
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)	SNV Germline	Chr3:122284253	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA354159395	rs_2074935748	2 SubmittersRCV001233441 RCV003353236
NM_000388.4(CASR):c.2680G>C (p.Val894Leu)	SNV Germline	Chr3:122284634	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354160547	rs_200883282	2 SubmittersRCV001231828 RCV004033138
NM_000388.4(CASR):c.493-2A>C	SNV Germline	Chr3:122261526	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA354150700	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 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA354362789	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 Nephrolithiasis/nephrocalcinosis CASR-related disorder Condition: not provided Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA354362773	rs_2074565202	6 SubmittersRCV001255709 RCV003365296 RCV004731110 RCV001586094 RCV002480873
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn)	SNV Germline	Chr3:122284383	Pathogenic	Autosomal dominant hypocalcemia 1	No Assertion Criteria Provided	CA354159781	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	CA354156219	rs_2074897929	1 SubmittersRCV001280870
NM_000388.4(CASR):c.776T>C (p.Ile259Thr)	SNV Germline	Chr3:122261811	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 not specified Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354151331	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	CA354161255	rs_2074950882	2 SubmittersRCV001302899 RCV004994391
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)	SNV Germline	Chr3:122284979	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354161287	rs_1256856876	3 SubmittersRCV001321440 RCV001820012 RCV004995679
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile)	SNV Germline	Chr3:122285177	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA354161815	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 Familial hypocalciuric hypercalcemia 2 Autosomal dominant hypocalcemia 2	Criteria Provided Conflicting Classifications	CA9074747	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 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA2569763	rs_757736220	3 SubmittersRCV001373982 RCV004037594 RCV005361576
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)	SNV Germline	Chr3:122262411	Pathogenic	Condition: not provided Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354153430	rs_2107633334	3 SubmittersRCV001664859 RCV001379696
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	SNV Germline	Chr3:122275959	Pathogenic/Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Condition: not provided Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA354155286	rs_193922423	4 SubmittersRCV001377998 RCV004699352 RCV004793471 RCV005023123
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	SNV Germline	Chr3:122262091	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided CASR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA354152428	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	CA354152549	rs_2107632860	1 SubmittersRCV001382148
NM_000388.4(CASR):c.1732+10C>T	SNV Germline	Chr3:122282246	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2569728	rs_201859314	2 SubmittersRCV001450683 RCV001664883
NM_000388.4(CASR):c.554G>T (p.Arg185Leu)	SNV Germline	Chr3:122261589	Conflicting classifications of pathogenicity	not specified Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided	Criteria Provided Conflicting Classifications	CA354150837	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	CA354362387	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	CA354157900	rs_2107649591	3 SubmittersRCV001663820 RCV002032660
NM_002067.5(GNA11):c.161C>T (p.Thr54Met)	SNV Germline	Chr19:3110173	Likely pathogenic	Familial hypocalciuric hypercalcemia 2 Familial hypocalciuric hypercalcemia 2 Autosomal dominant hypocalcemia 2	Criteria Provided Single Submitter	CA403305402	rs_1335558363	2 SubmittersRCV001706737 RCV005014615
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	SNV Germline	Chr3:122284460	Likely pathogenic	Autosomal dominant hypocalcemia 1 Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA354160101	rs_2107650629	3 SubmittersRCV001730102 RCV002265031 RCV002477905
NM_000388.4(CASR):c.1A>G (p.Met1Val)	SNV Germline	Chr3:122254190	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354361910	rs_2107624704	2 SubmittersRCV001779505 RCV005213591
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	CA354154771	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	CA354160742	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	CA354158293	rs_2074927550	1 SubmittersRCV001912618
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg)	SNV Germline	Chr3:122282149	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354156184	rs_2107648261	1 SubmittersRCV001970738
NM_002067.5(GNA11):c.605+10G>A	SNV Germline	Chr19:3115082	Conflicting classifications of pathogenicity	Condition: not provided Familial hypocalciuric hypercalcemia 2 Autosomal dominant hypocalcemia 2	Criteria Provided Conflicting Classifications	CA9074931	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 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1 Neonatal severe primary hyperparathyroidism Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2569920	rs_202219108	3 SubmittersRCV001982642 RCV005025480 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	CA354153444	rs_2074639464	1 SubmittersRCV001976004
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser)	SNV Germline	Chr3:122284449	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism	Criteria Provided Conflicting Classifications	CA354160076	rs_2107650603	2 SubmittersRCV001976111 RCV005025564
NM_000388.4(CASR):c.2446A>G (p.Ile816Val)	SNV Germline	Chr3:122284400	Conflicting classifications of pathogenicity	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA354159822	rs_2107650518	3 SubmittersRCV001978102 RCV002471208 RCV004999584
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	CA354362703	rs_2107627659	2 SubmittersRCV002007310 RCV002512168
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)	SNV Germline	Chr3:122257267	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Conflicting Classifications	CA354362758	rs_757571398	3 SubmittersRCV002473345 RCV002236386 RCV001998641
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	CA354362785	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	CA354155346	rs_2074814252	1 SubmittersRCV001994850
NM_000388.4(CASR):c.186-2A>G	SNV Germline	Chr3:122257079	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA354362330	rs_1350886416	1 SubmittersRCV001931897
NM_000388.4(CASR):c.721G>A (p.Glu241Lys)	SNV Germline	Chr3:122261756	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA354151209	rs_2107632158	2 SubmittersRCV002044790 RCV005038365
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	CA82738194	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	CA354158292	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	CA354161478	rs_2107651962	2 SubmittersRCV002021117 RCV004046840
NM_002067.5(GNA11):c.549C>T (p.Arg183=)	SNV Germline	Chr19:3115016	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2	Criteria Provided Conflicting Classifications	CA9074909	rs_758392443	3 SubmittersRCV002115250 RCV005017130
NM_000388.4(CASR):c.2065G>A (p.Val689Met)	SNV Germline	Chr3:122284019	Pathogenic/Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Condition: not provided Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1	Criteria Provided Multiple Submitters No Conflicts	CA354158415	rs_2107649885	4 SubmittersRCV002271885 RCV003101539 RCV004999684 RCV005025749
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)	SNV Germline	Chr3:122284470	Likely pathogenic	Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354160132	rs_2107650645	1 SubmittersRCV002272633
NM_000388.4(CASR):c.1608+1G>A	SNV Germline	Chr3:122276043	Likely pathogenic	Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA354155596	rs_2473258614	2 SubmittersRCV004057455 RCV003774406
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	CA354362068	rs_979596307	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	CA354361914	rs_1467887809	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	CA354151068	rs_1202110240	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	CA354151238	rs_2473226212	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	CA354155340	rs_2473258239	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 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts	CA354158923	rs_1576877587	4 SubmittersRCV002651729 RCV004596568 RCV005059183
NM_002067.5(GNA11):c.889+15G>A	SNV Germline	Chr19:3119374	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal dominant hypocalcemia 2 Familial hypocalciuric hypercalcemia 2	Criteria Provided Conflicting Classifications	CA9075056	rs_373562448	3 SubmittersRCV003111098 RCV005230458 RCV005021806
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	CA354361913	rs_1467887809	2 SubmittersRCV002877444 RCV003388129
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)	SNV Germline	Chr3:122283792	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	Criteria Provided Multiple Submitters No Conflicts	CA354157559	rs_2473276491	2 SubmittersRCV002895283 RCV005034451
NM_000388.4(CASR):c.1609-11C>G	SNV Germline	Chr3:122282102	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA354156089	rs_773737428	2 SubmittersRCV002907605 RCV005028002
NM_000388.4(CASR):c.1377+1G>A	SNV Germline	Chr3:122262413	Likely pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA354153441	rs_2074639464	1 SubmittersRCV003033614
NM_000388.4(CASR):c.186-1G>A	SNV Germline	Chr3:122257080	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter	CA354362332	rs_797044441	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	CA354362759	rs_757571398	2 SubmittersRCV003315132 RCV003777287
NM_000388.4(CASR):c.186-1G>C	SNV Germline	Chr3:122257080	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354362333	rs_797044441	1 SubmittersRCV003783439
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)	SNV Germline	Chr3:122261604	Conflicting classifications of pathogenicity	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications	CA354150866	rs_2473225374	2 SubmittersRCV003781012 RCV004783110
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)	SNV Germline	Chr3:122261717	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354151115	rs_2473226024	1 SubmittersRCV003781014
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)	SNV Germline	Chr3:122283774	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354157486	rs_1052956823	1 SubmittersRCV003781017
NM_000388.4(CASR):c.492+2T>C	SNV Germline	Chr3:122257389	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354363012	rs_2473215439	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	CA354151544	rs_2473226965	1 SubmittersRCV003802771
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)	SNV Germline	Chr3:122257084	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354362342	rs_2473213918	1 SubmittersRCV003803400
NM_000388.4(CASR):c.1608+2T>C	SNV Germline	Chr3:122276044	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354155599	rs_755073303	1 SubmittersRCV003800841
NM_000388.4(CASR):c.185+1G>A	SNV Germline	Chr3:122254375	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter	CA354362317	rs_2473205920	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	CA354152595	rs_1576859083	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	CA354152371	rs_2473227839	1 SubmittersRCV003813634
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)	SNV Germline	Chr3:122261696	Pathogenic	Autosomal dominant hypocalcemia	Criteria Provided Single Submitter	CA354151072	rs_2473225928	1 SubmittersRCV003994928
NM_000388.4(CASR):c.1742C>T (p.Ala581Val)	SNV Germline	Chr3:122283696	Likely pathogenic	Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004788438 RCV005218314
NM_000388.4(CASR):c.1694G>T (p.Cys565Phe)	SNV Germline	Chr3:122282198	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV004791143 RCV005221082
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)	SNV Germline	Chr3:122257290	Likely pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV004795767
NM_000388.4(CASR):c.2011G>T (p.Glu671Ter)	SNV Germline	Chr3:122283965	Pathogenic/Likely pathogenic	Nephrolithiasis/nephrocalcinosis Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004994961 RCV005218386
NM_002067.5(GNA11):c.446G>A (p.Arg149His)	SNV Germline	Chr19:3113454	Likely pathogenic	Familial hypocalciuric hypercalcemia 2 Autosomal dominant hypocalcemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005022946
NM_000388.4(CASR):c.897G>A (p.Trp299Ter)	SNV Germline	Chr3:122261932	Likely pathogenic	Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8	Criteria Provided Single Submitter			1 SubmittersRCV005034922
NM_000388.4(CASR):c.1661T>A (p.Ile554Asn)	SNV Germline	Chr3:122282165	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005000772 RCV005223153
NM_000388.4(CASR):c.1732+2T>C	SNV Germline	Chr3:122282238	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV005219781
NM_000388.4(CASR):c.1685G>T (p.Cys562Phe)	SNV Germline	Chr3:122282189	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV005215617
NM_000388.4(CASR):c.1732+1G>C	SNV Germline	Chr3:122282237	Pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV005217934
NM_000388.4(CASR):c.493-1G>A	SNV Germline	Chr3:122261527	Likely pathogenic	Familial hypocalciuric hypercalcemia Autosomal dominant hypocalcemia 1	Criteria Provided Single Submitter			1 SubmittersRCV005228518
NM_000388.4(CASR):c.1426C>T (p.Gln476Ter)	SNV Germline	Chr3:122275860	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV005226205
NM_000388.4(CASR):c.1823G>A (p.Trp608Ter)	SNV Germline	Chr3:122283777	Pathogenic	Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia	Criteria Provided Single Submitter			1 SubmittersRCV005222284

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

SNV
Germline

Chr3:122284337

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119467

rs_121909258

5 SubmittersRCV000008810 RCV001199039 RCV000517736 RCV000793559 RCV005241233

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

SNV
Germline

Chr3:122261924

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119471

rs_104893689

15 SubmittersRCV000008814 RCV000008813 RCV000412784 RCV002496307 RCV000627760 RCV001804716 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
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119475

rs_28936684

5 SubmittersRCV000008818 RCV001384282 RCV004554587 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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119485

rs_104893694

5 SubmittersRCV000008824 RCV001851746 RCV001818147

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

Likely pathogenic

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

Criteria Provided
Single Submitter

CA119491

rs_104893697

2 SubmittersRCV000008828 RCV005025034

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

Criteria Provided
Multiple Submitters
No Conflicts

CA212891

rs_28936684

7 SubmittersRCV000008833 RCV000516668 RCV000524505 RCV002265551 RCV004554588 RCV002496308 RCV004018593

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

SNV
Germline

Chr3:122257308

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119501

rs_121909263

7 SubmittersRCV000008834 RCV004554589 RCV003480025 RCV005430927 RCV002476947 RCV004018594 RCV002228022

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

SNV
Germline

Chr3:122257323

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119503

rs_121909264

4 SubmittersRCV000008835 RCV000498830 RCV000549803 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
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8

Criteria Provided
Multiple Submitters
No Conflicts

CA119507

rs_121909266

5 SubmittersRCV000008837 RCV000498645 RCV001851747 RCV003398474 RCV005025035

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
Nephrolithiasis/nephrocalcinosis
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA119517

rs_104893705

4 SubmittersRCV000008843 RCV000054484 RCV004018596 RCV003764537

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

SNV
Germline

Chr3:122257080

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119523

rs_104893707

4 SubmittersRCV000008850 RCV001040159 RCV005025036

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119533

rs_104893712

10 SubmittersRCV000008855 RCV000414467 RCV001851749 RCV004554590 RCV005025037 RCV001804717 RCV003343599

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

SNV
Germline

Chr3:122275828

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119537

rs_104893716

6 SubmittersRCV000008857 RCV000459271 RCV003482226 RCV004018600 RCV005025038

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA213557

rs_193922419

2 SubmittersRCV000029425 RCV001852587

NM_000388.4(CASR):c.106G>A (p.Gly36Arg)

SNV
Germline

Chr3:122254295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213559

rs_193922420

6 SubmittersRCV000029426 RCV000341520 RCV000705981 RCV004018678

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

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.2254C>T (p.Arg752Cys)

SNV
Germline

Chr3:122284208

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213584

rs_193922434

4 SubmittersRCV000029442 RCV001753429 RCV002228056 RCV005246593

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

SNV
Germline

Chr3:122285045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213597

rs_142704083

6 SubmittersRCV000987315 RCV000503233 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
Condition: not provided
Familial hypocalciuric hypercalcemia 2
Autosomal dominant hypocalcemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA144607

rs_587777021

3 SubmittersRCV000054478 RCV001853077 RCV002504951

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

Criteria Provided
Multiple Submitters
No Conflicts

CA144609

rs_397514728

11 SubmittersRCV000054481 RCV001384281 RCV000518374 RCV002490628 RCV004554695 RCV001797617 RCV003343624

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

SNV
Germline

Chr3:122262227

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA216118

rs_201177696

8 SubmittersRCV000054614 RCV002255127 RCV001083262 RCV001818230 RCV004018970

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

SNV
Germline

Chr3:122284731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA216130

rs_200263975

7 SubmittersRCV000054620 RCV000225899 RCV004554696 RCV004018974

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

Criteria Provided
Conflicting Classifications

CA216140

rs_200382161

6 SubmittersRCV000054625 RCV005025108 RCV000469248 RCV004018975

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

SNV
Germline

Chr19:3110191

Pathogenic

Autosomal dominant hypocalcemia 2
Condition: not provided

Criteria Provided
Single Submitter

CA170731

rs_587777707

2 SubmittersRCV000144048 RCV005089664

NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)

SNV
Germline/somatic

Chr3:122285075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA174089

rs_193921082

3 SubmittersRCV000149000 RCV000704147 RCV004019782

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

SNV
Germline

Chr3:122254303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238601

rs_61733590

4 SubmittersRCV000173116 RCV001086519 RCV004020055 RCV005237643

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2569467

rs_769256610

5 SubmittersRCV000226673 RCV003114394 RCV004601135 RCV002472975 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
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
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
Familial hypoparathyroidism
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Condition: not provided
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569608

rs_200312817

5 SubmittersRCV000233360 RCV001149345 RCV001149347 RCV001149348 RCV001149346 RCV003144169 RCV004020749 RCV004554754

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

SNV
Germline

Chr3:122282135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569716

rs_115230894

14 SubmittersRCV000251515 RCV000337880 RCV000312098 RCV000281394 RCV000390791 RCV000727289 RCV001081459 RCV002255323 RCV001838993 RCV004020752

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

SNV
Germline

Chr3:122283706

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569741

rs_138638329

6 SubmittersRCV000227311 RCV000259904 RCV000317362 RCV000323277 RCV000380231 RCV002255324 RCV003311719 RCV004020753 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
Epilepsy, idiopathic generalized, susceptibility to, 8
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia 1
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

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

Criteria Provided
Conflicting Classifications

CA2569778

rs_150869744

7 SubmittersRCV000347538 RCV000302845 RCV000359832 RCV000395248 RCV000711032 RCV001080668 RCV002267979 RCV002255325 RCV004020756

NM_000388.4(CASR):c.2870A>G (p.Gln957Arg)

SNV
Germline

Chr3:122284824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569883

rs_150979829

4 SubmittersRCV000228722 RCV003144170 RCV004020757 RCV005031810

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
not specified

Criteria Provided
Conflicting Classifications

CA10588349

rs_201852643

3 SubmittersRCV000255744 RCV001855012 RCV003317177

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602891

rs_886041637

5 SubmittersRCV000279142 RCV002229733 RCV004021067 RCV005238817 RCV002272201

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

SNV
Germline

Chr3:122261920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569413

rs_201564143

6 SubmittersRCV000315565 RCV001147693 RCV001147694 RCV001087642 RCV001147691 RCV001147692 RCV004021177 RCV004554760

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

SNV
Germline

Chr3:122262109

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

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

Criteria Provided
Conflicting Classifications

CA2569721

rs_201955278

4 SubmittersRCV000306403 RCV000363520 RCV000369153 RCV000397082 RCV000560070 RCV004021878 RCV005238931

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

SNV
Germline

Chr3:122283877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10614603

rs_368093724

3 SubmittersRCV000296195 RCV000309043 RCV000343864 RCV000404234 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 1
Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
Epilepsy, idiopathic generalized, susceptibility to, 8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA2569889

rs_200620134

9 SubmittersRCV000288087 RCV000345436 RCV000383567 RCV000664401 RCV000711038 RCV000525899 RCV004021880 RCV005027445

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
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA10614607

rs_886057831

4 SubmittersRCV000281252 RCV000317589 RCV000372191 RCV000376313 RCV000884515 RCV004021883 RCV004554764

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2569414

rs_201633414

11 SubmittersRCV000413560 RCV000457695 RCV003333060 RCV004586698 RCV004022152 RCV004786676 RCV005033929

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

SNV
Germline

Chr3:122262218

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042449

rs_1057517712

2 SubmittersRCV002523905 RCV000413522

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

SNV
Germline

Chr3:122284403

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043395

rs_1057518933

6 SubmittersRCV000415394 RCV001379697 RCV002488857 RCV000991745 RCV003401408

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

SNV
Germline

Chr3:122284385

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16604354

rs_1057521129

3 SubmittersRCV000440135 RCV002519527 RCV005238991

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

SNV
Germline

Chr3:122284611

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16604355

rs_1057520791

5 SubmittersRCV000443461 RCV000664400 RCV000694836

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2569822

rs_140022350

6 SubmittersRCV000433842 RCV000700033 RCV003993953 RCV002488902 RCV004554774

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

SNV
Germline

Chr3:122261567

Pathogenic/Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
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

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

Criteria Provided
Conflicting Classifications

CA2569545

rs_142745096

14 SubmittersRCV000463689 RCV000493534 RCV001030008 RCV002268085 RCV004022778 RCV004554781 RCV004584387 RCV005027527

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

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
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

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

Criteria Provided
Conflicting Classifications

CA2569760

rs_201852643

4 SubmittersRCV000459788 RCV002489065 RCV004022764 RCV004554780

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

SNV
Germline

Chr3:122283992

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2569772

rs_767363250

4 SubmittersRCV001289355 RCV002307504 RCV002230400 RCV005033986

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

SNV
Germline

Chr3:122284347

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16611130

rs_1060502856

4 SubmittersRCV000474973 RCV002265771 RCV002465660

NM_000388.4(CASR):c.2687G>A (p.Arg896His)

SNV
Germline

Chr3:122284641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611132

rs_773552397

3 SubmittersRCV000468483 RCV002480419 RCV004022781

NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg)

SNV
Germline

Chr3:122285009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16611138

rs_1060502848

4 SubmittersRCV000469103 RCV001527058 RCV004022765 RCV003226932

NM_000388.4(CASR):c.1826C>T (p.Thr609Met)

SNV
Germline

Chr3:122283780

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569749

rs_759904153

2 SubmittersRCV000465141 RCV004022770

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

SNV
Germline

Chr3:122275827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569651

rs_751217000

6 SubmittersRCV000468370 RCV000991736 RCV001824137 RCV003323549 RCV004022772

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

SNV
Germline

Chr3:122282156

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA16611307

rs_1060502861

1 SubmittersRCV000465116

NM_000388.4(CASR):c.2147G>A (p.Arg716His)

SNV
Germline

Chr3:122284101

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569787

rs_201670662

5 SubmittersRCV000477532 RCV001145144 RCV001145145 RCV001145146 RCV002481457 RCV001147114 RCV004022774 RCV003226297

NM_000388.4(CASR):c.2437A>G (p.Ile813Val)

SNV
Germline

Chr3:122284391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569824

rs_746541034

4 SubmittersRCV000470797 RCV002481454 RCV004758691 RCV004022766

NM_000388.4(CASR):c.2672G>A (p.Arg891His)

SNV
Germline

Chr3:122284626

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2569843

rs_533567836

2 SubmittersRCV000467153 RCV001764432

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
not specified
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA16617810

rs_1064794290

8 SubmittersRCV000484137 RCV000527853 RCV004992259 RCV005230940 RCV005250058 RCV005407139

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

SNV
Germline

Chr3:122261612

Pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

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

Criteria Provided
Conflicting Classifications

CA16617817

rs_1064794291

5 SubmittersRCV000684751 RCV002525831 RCV005027545

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

SNV
Germline

Chr3:122284967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569906

rs_201990892

4 SubmittersRCV000480370 RCV000543588 RCV002489155 RCV004023137

NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)

SNV
Germline

Chr3:122261684

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354151047

rs_201091657

3 SubmittersRCV000494358 RCV004992275 RCV005624408

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

SNV
Germline

Chr3:122254180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569400

rs_753659949

3 SubmittersRCV000497412 RCV001144835 RCV001144836 RCV001144834 RCV001146801

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

SNV
Germline

Chr3:122261693

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354151065

rs_1482119762

8 SubmittersRCV000542291 RCV002289683 RCV000498127 RCV005252930 RCV002496905 RCV005239095

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

SNV
Germline

Chr3:122282177

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA354151177

rs_1057518616

3 SubmittersRCV000517605 RCV001851427

NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)

SNV
Germline

Chr3:122275900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354155147

rs_1553768108

3 SubmittersRCV000518357 RCV000691702 RCV002268137

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

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

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

Criteria Provided
Conflicting Classifications

CA2569831

rs_373819680

4 SubmittersRCV002527462 RCV000518164 RCV004820856 RCV004023499

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

SNV
Germline

Chr3:122261694

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354151067

rs_1202110240

4 SubmittersRCV000523669 RCV000639448 RCV004023533 RCV003983103

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

SNV
Germline

Chr3:122254229

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569406

rs_199515839

5 SubmittersRCV000524604 RCV001770431 RCV003320679 RCV002483414 RCV004023965

NM_000388.4(CASR):c.705C>A (p.Ile235=)

SNV
Germline

Chr3:122261740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569522

rs_199887150

4 SubmittersRCV000554069 RCV004023967 RCV004554803 RCV005027637

NM_000388.4(CASR):c.1011C>G (p.Val337=)

SNV
Germline

Chr3:122262046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569575

rs_201820733

3 SubmittersRCV000529823 RCV004023923 RCV005034095

NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)

SNV
Germline

Chr3:122285174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569947

rs_775066593

3 SubmittersRCV000536379 RCV002497121 RCV004023964

NM_000388.4(CASR):c.220A>C (p.Met74Leu)

SNV
Germline

Chr3:122257115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569450

rs_745377913

8 SubmittersRCV000555584 RCV000711034 RCV002506333 RCV003403288 RCV004023947 RCV004554801

NM_000388.4(CASR):c.308C>T (p.Thr103Ile)

SNV
Germline

Chr3:122257203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569458

rs_199734455

4 SubmittersRCV000543101 RCV000991748 RCV002491012 RCV004023962

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

SNV
Germline

Chr3:122262322

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
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

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

Criteria Provided
Conflicting Classifications

CA2569800

rs_139417576

5 SubmittersRCV000539780 RCV003387877 RCV004023948 RCV004758704 RCV005231044

NM_000388.4(CASR):c.845A>G (p.Glu282Gly)

SNV
Germline

Chr3:122261880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569544

rs_751540983

3 SubmittersRCV000545591 RCV002223862 RCV004023971

NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)

SNV
Germline

Chr3:122262126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569589

rs_200771541

3 SubmittersRCV000537669 RCV000764462 RCV004023926

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

SNV
Germline

Chr3:122284010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569776

rs_753013993

3 SubmittersRCV000525289 RCV002483412 RCV004023945

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

SNV
Germline

Chr3:122261814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569534

rs_200386687

5 SubmittersRCV000545814 RCV001357374 RCV002483415 RCV004023969 RCV003387878

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

SNV
Germline

Chr3:122262189

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
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

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

Criteria Provided
Conflicting Classifications

CA2569620

rs_199511990

5 SubmittersRCV002476144 RCV002231730 RCV003448320 RCV004023931 RCV004554798

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

SNV
Germline

Chr3:122275944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569670

rs_201536450

6 SubmittersRCV000531852 RCV002476145 RCV004023935 RCV003987594 RCV005357582

NM_000388.4(CASR):c.1573G>A (p.Glu525Lys)

SNV
Germline

Chr3:122276007

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis
CASR-related disorder

Criteria Provided
Conflicting Classifications

CA2569681

rs_199688157

3 SubmittersRCV000546736 RCV004023936 RCV004758703

NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)

SNV
Germline

Chr3:122284505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569832

rs_200777304

4 SubmittersRCV000535785 RCV002476146 RCV004023952 RCV004554802

NM_000388.4(CASR):c.2996A>C (p.Glu999Ala)

SNV
Germline

Chr3:122284950

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA82749408

rs_201052958

2 SubmittersRCV002231743 RCV004023960

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

SNV
Germline

Chr3:122284183

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569604

rs_377282860

5 SubmittersRCV000592651 RCV000799519 RCV002506433 RCV004024815

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

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354151495

rs_1553766800

2 SubmittersRCV000639446 RCV004025552

NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)

SNV
Germline

Chr3:122282126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569715

rs_201202700

4 SubmittersRCV000639424 RCV002507088 RCV004025541 RCV005240369

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

SNV
Germline

Chr3:122261714

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354151112

rs_1085307984

5 SubmittersRCV000639467 RCV002499075 RCV000657571

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

SNV
Germline

Chr3:122262145

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569593

rs_150412204

4 SubmittersRCV001085773 RCV000733764 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

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

Criteria Provided
Conflicting Classifications

CA2569805

rs_771529256

4 SubmittersRCV000639441 RCV001147997 RCV001147998 RCV001148000 RCV005034214 RCV001147999 RCV004025549

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

SNV
Germline

Chr3:122285188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569950

rs_556263764

5 SubmittersRCV001145541 RCV001149875 RCV001149876 RCV004025574 RCV000711040 RCV001087594 RCV001145542

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

CA2569476

rs_200277155

4 SubmittersRCV000699862 RCV002268260 RCV004026491

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

SNV
Germline

Chr3:122284163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569792

rs_200318708

3 SubmittersRCV002485666 RCV002233255 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
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Autosomal dominant hypocalcemia 1
Epilepsy, idiopathic generalized, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA2569469

rs_749288251

3 SubmittersRCV000691472 RCV004025089 RCV005027854

NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser)

SNV
Germline

Chr3:122285057

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569932

rs_762383457

2 SubmittersRCV000697929 RCV004026420

NM_000388.4(CASR):c.494T>G (p.Val165Gly)

SNV
Germline

Chr3:122261529

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Bartter syndrome with hypocalcemia
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
not specified
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354150710

rs_1559958757

4 SubmittersRCV000686284 RCV003483704 RCV003387911 RCV004026232

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

SNV
Germline

Chr3:122261673

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354151025

rs_1559958979

2 SubmittersRCV002232821 RCV003326509

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

SNV
Germline

Chr3:122284721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569861

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

CA2569891

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
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA354362134

rs_1559955362

4 SubmittersRCV000711027 RCV001231195 RCV003225115

NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)

SNV
Germline

Chr3:122284065

Conflicting classifications of pathogenicity

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA354158592

rs_1559968657

2 SubmittersRCV000711033 RCV001053679

NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)

SNV
Germline

Chr3:122284994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA82749487

rs_202219108

4 SubmittersRCV000711039 RCV001376143 RCV000795756 RCV004026795

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

SNV
Germline

Chr3:122261923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569556

rs_759988398

4 SubmittersRCV000728736 RCV001868935 RCV004026952 RCV005027900

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

SNV
Germline

Chr3:122282086

Conflicting classifications of pathogenicity

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2569708

rs_4678175

2 SubmittersRCV003768258 RCV005251208

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

SNV
Germline

Chr3:122262209

Pathogenic

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA354152750

rs_1559959758

5 SubmittersRCV000760418 RCV003768284

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

SNV
Germline

Chr3:122284257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569812

rs_201858689

6 SubmittersRCV000781967 RCV001759477 RCV004027327 RCV004554824 RCV005029438 RCV001238616

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

SNV
Germline

Chr3:122254287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569420

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354362364

rs_1276839362

4 SubmittersRCV005240595 RCV000806048 RCV002264984 RCV004028231

NM_000388.4(CASR):c.232A>G (p.Ile78Val)

SNV
Germline

Chr3:122257127

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569451

rs_769294626

3 SubmittersRCV000801127 RCV002487694 RCV004028051

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

CA435424501

rs_1576858604

2 SubmittersRCV000808216 RCV004028642

NM_000388.4(CASR):c.1861G>A (p.Val621Met)

SNV
Germline

Chr3:122283815

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569754

rs_751538967

3 SubmittersRCV000817623 RCV003396435 RCV004028920

NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)

SNV
Germline

Chr3:122283981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569770

rs_768204447

4 SubmittersRCV000793144 RCV002290430 RCV004027435 RCV002477802

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

SNV
Germline

Chr3:122284219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569807

rs_201366240

3 SubmittersRCV000819937 RCV004029021 RCV005036213

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

SNV
Germline

Chr3:122284310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569819

rs_371882068

4 SubmittersRCV000809088 RCV002268300 RCV004693333 RCV004028659

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

SNV
Germline

Chr3:122284592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569839

rs_763865303

3 SubmittersRCV000808986 RCV004028657 RCV002501095

NM_000388.4(CASR):c.2803C>A (p.Pro935Thr)

SNV
Germline

Chr3:122284757

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA82749257

rs_201449422

4 SubmittersRCV000818154 RCV004028945 RCV005029506 RCV004689897

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

CA2569929

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

CA354150701

rs_1576857818

1 SubmittersRCV000808448

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

SNV
Germline

Chr3:122284783

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569873

rs_764614440

3 SubmittersRCV000876684 RCV002290487 RCV004027877

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

SNV
Germline

Chr3:122254297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569421

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
CASR-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354152917

rs_1576859379

4 SubmittersRCV000991735 RCV001858739 RCV004554842 RCV004030128

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

SNV
Germline

Chr3:122282168

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354156225

rs_1576875819

5 SubmittersRCV000991738 RCV001323851 RCV002236001 RCV004030129

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

SNV
Germline

Chr3:122262054

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2569577

rs_768228172

2 SubmittersRCV001214695 RCV004030290

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

SNV
Germline

Chr3:122282174

Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA354156238

rs_1576875835

2 SubmittersRCV001030007 RCV001208343

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

SNV
Germline

Chr3:122254355

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354362273

rs_1358793834

4 SubmittersRCV001039545 RCV001536112 RCV002473169 RCV004031110

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

SNV
Germline

Chr3:122262143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354152604

rs_2074634164

3 SubmittersRCV001052865 RCV002462291 RCV004031662

NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)

SNV
Germline

Chr3:122262167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA82738897

rs_201338034

3 SubmittersRCV001046969 RCV002481930 RCV004031460

NM_000388.4(CASR):c.1663A>G (p.Ile555Val)

SNV
Germline

Chr3:122282167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2569720

rs_777646067

3 SubmittersRCV001037938 RCV002465826 RCV005235504

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

SNV
Germline

Chr3:122283698

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354157111

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

CA354161274

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
not specified

Criteria Provided
Conflicting Classifications

CA354161816

rs_748855270

3 SubmittersRCV001046019 RCV004031420 RCV005232081

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

SNV
Germline

Chr3:122282111

Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354156106

rs_761084315

2 SubmittersRCV004031870 RCV001059152

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

SNV
Germline

Chr3:122283937

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354158235

rs_2074926931

1 SubmittersRCV001210848

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

SNV
Germline

Chr3:122284197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354159168

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

CA354160501

rs_1559969429

2 SubmittersRCV001204429 RCV002268449

NM_000388.4(CASR):c.652T>C (p.Tyr218His)

SNV
Germline

Chr3:122261687

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA354151052

rs_1057520583

2 SubmittersRCV005251259 RCV001238160

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

SNV
Germline

Chr3:122261688

Pathogenic/Likely pathogenic

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
Familial hypocalciuric hypercalcemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354151055

rs_2074624616

4 SubmittersRCV001233279 RCV002497795 RCV003486972 RCV003482350

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

SNV
Germline

Chr3:122284253

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA354159395

rs_2074935748

2 SubmittersRCV001233441 RCV003353236

NM_000388.4(CASR):c.2680G>C (p.Val894Leu)

SNV
Germline

Chr3:122284634

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354160547

rs_200883282

2 SubmittersRCV001231828 RCV004033138

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

SNV
Germline

Chr3:122261526

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Neonatal severe primary hyperparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

CA354150700

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
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Conflicting Classifications

CA354362789

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354362773

rs_2074565202

6 SubmittersRCV001255709 RCV003365296 RCV004731110 RCV001586094 RCV002480873

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

SNV
Germline

Chr3:122284383

Pathogenic

Autosomal dominant hypocalcemia 1

No Assertion Criteria Provided

CA354159781

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

CA354156219

rs_2074897929

1 SubmittersRCV001280870

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

SNV
Germline

Chr3:122261811

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354151331

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

CA354161255

rs_2074950882

2 SubmittersRCV001302899 RCV004994391

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

SNV
Germline

Chr3:122284979

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354161287

rs_1256856876

3 SubmittersRCV001321440 RCV001820012 RCV004995679

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

SNV
Germline

Chr3:122285177

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA354161815

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
Familial hypocalciuric hypercalcemia 2
Autosomal dominant hypocalcemia 2

Criteria Provided
Conflicting Classifications

CA9074747

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
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA2569763

rs_757736220

3 SubmittersRCV001373982 RCV004037594 RCV005361576

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

SNV
Germline

Chr3:122262411

Pathogenic

Condition: not provided
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354153430

rs_2107633334

3 SubmittersRCV001664859 RCV001379696

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

SNV
Germline

Chr3:122275959

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354155286

rs_193922423

4 SubmittersRCV001377998 RCV004699352 RCV004793471 RCV005023123

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

SNV
Germline

Chr3:122262091

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354152428

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

CA354152549

rs_2107632860

1 SubmittersRCV001382148

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

SNV
Germline

Chr3:122282246

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2569728

rs_201859314

2 SubmittersRCV001450683 RCV001664883

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

SNV
Germline

Chr3:122261589

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354150837

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

CA354362387

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

CA354157900

rs_2107649591

3 SubmittersRCV001663820 RCV002032660

NM_002067.5(GNA11):c.161C>T (p.Thr54Met)

SNV
Germline

Chr19:3110173

Likely pathogenic

Familial hypocalciuric hypercalcemia 2
Familial hypocalciuric hypercalcemia 2
Autosomal dominant hypocalcemia 2

Criteria Provided
Single Submitter

CA403305402

rs_1335558363

2 SubmittersRCV001706737 RCV005014615

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

SNV
Germline

Chr3:122284460

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354160101

rs_2107650629

3 SubmittersRCV001730102 RCV002265031 RCV002477905

NM_000388.4(CASR):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:122254190

Pathogenic/Likely pathogenic

Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA354361910

rs_2107624704

2 SubmittersRCV001779505 RCV005213591

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

CA354154771

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

CA354160742

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

CA354158293

rs_2074927550

1 SubmittersRCV001912618

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

SNV
Germline

Chr3:122282149

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354156184

rs_2107648261

1 SubmittersRCV001970738

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

SNV
Germline

Chr19:3115082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9074931

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

Criteria Provided
Conflicting Classifications

CA2569920

rs_202219108

3 SubmittersRCV001982642 RCV005025480 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

CA354153444

rs_2074639464

1 SubmittersRCV001976004

NM_000388.4(CASR):c.2495T>C (p.Phe832Ser)

SNV
Germline

Chr3:122284449

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354160076

rs_2107650603

2 SubmittersRCV001976111 RCV005025564

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

SNV
Germline

Chr3:122284400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354159822

rs_2107650518

3 SubmittersRCV001978102 RCV002471208 RCV004999584

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

CA354362703

rs_2107627659

2 SubmittersRCV002007310 RCV002512168

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

SNV
Germline

Chr3:122257267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354362758

rs_757571398

3 SubmittersRCV002473345 RCV002236386 RCV001998641

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

CA354362785

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

CA354155346

rs_2074814252

1 SubmittersRCV001994850

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

SNV
Germline

Chr3:122257079

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA354362330

rs_1350886416

1 SubmittersRCV001931897

NM_000388.4(CASR):c.721G>A (p.Glu241Lys)

SNV
Germline

Chr3:122261756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354151209

rs_2107632158

2 SubmittersRCV002044790 RCV005038365

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

CA82738194

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

CA354158292

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

CA354161478

rs_2107651962

2 SubmittersRCV002021117 RCV004046840

NM_002067.5(GNA11):c.549C>T (p.Arg183=)

SNV
Germline

Chr19:3115016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9074909

rs_758392443

3 SubmittersRCV002115250 RCV005017130

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

SNV
Germline

Chr3:122284019

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354158415

rs_2107649885

4 SubmittersRCV002271885 RCV003101539 RCV004999684 RCV005025749

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

SNV
Germline

Chr3:122284470

Likely pathogenic

Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354160132

rs_2107650645

1 SubmittersRCV002272633

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

SNV
Germline

Chr3:122276043

Likely pathogenic

Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA354155596

rs_2473258614

2 SubmittersRCV004057455 RCV003774406

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

CA354362068

rs_979596307

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

CA354361914

rs_1467887809

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

CA354151068

rs_1202110240

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

CA354151238

rs_2473226212

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

CA354155340

rs_2473258239

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
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

CA354158923

rs_1576877587

4 SubmittersRCV002651729 RCV004596568 RCV005059183

NM_002067.5(GNA11):c.889+15G>A

SNV
Germline

Chr19:3119374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9075056

rs_373562448

3 SubmittersRCV003111098 RCV005230458 RCV005021806

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

CA354361913

rs_1467887809

2 SubmittersRCV002877444 RCV003388129

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

SNV
Germline

Chr3:122283792

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

Criteria Provided
Multiple Submitters
No Conflicts

CA354157559

rs_2473276491

2 SubmittersRCV002895283 RCV005034451

NM_000388.4(CASR):c.1609-11C>G

SNV
Germline

Chr3:122282102

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA354156089

rs_773737428

2 SubmittersRCV002907605 RCV005028002

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

SNV
Germline

Chr3:122262413

Likely pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA354153441

rs_2074639464

1 SubmittersRCV003033614

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

SNV
Germline

Chr3:122257080

Pathogenic

Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Single Submitter

CA354362332

rs_797044441

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

CA354362759

rs_757571398

2 SubmittersRCV003315132 RCV003777287

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

SNV
Germline

Chr3:122257080

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354362333

rs_797044441

1 SubmittersRCV003783439

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

SNV
Germline

Chr3:122261604

Conflicting classifications of pathogenicity

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

CA354150866

rs_2473225374

2 SubmittersRCV003781012 RCV004783110

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

SNV
Germline

Chr3:122261717

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354151115

rs_2473226024

1 SubmittersRCV003781014

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

SNV
Germline

Chr3:122283774

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354157486

rs_1052956823

1 SubmittersRCV003781017

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

SNV
Germline

Chr3:122257389

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354363012

rs_2473215439

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

CA354151544

rs_2473226965

1 SubmittersRCV003802771

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

SNV
Germline

Chr3:122257084

Pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354362342

rs_2473213918

1 SubmittersRCV003803400

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

SNV
Germline

Chr3:122276044

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354155599

rs_755073303

1 SubmittersRCV003800841

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

SNV
Germline

Chr3:122254375

Likely pathogenic

Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1

Criteria Provided
Single Submitter

CA354362317

rs_2473205920

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

CA354152595

rs_1576859083

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

CA354152371

rs_2473227839

1 SubmittersRCV003813634

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

SNV
Germline

Chr3:122261696

Pathogenic

Autosomal dominant hypocalcemia

Criteria Provided
Single Submitter

CA354151072

rs_2473225928

1 SubmittersRCV003994928

NM_000388.4(CASR):c.1742C>T (p.Ala581Val)

SNV
Germline

Chr3:122283696

Likely pathogenic

Familial hypocalciuric hypercalcemia 1
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788438 RCV005218314

NM_000388.4(CASR):c.1694G>T (p.Cys565Phe)

SNV
Germline

Chr3:122282198

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004791143 RCV005221082

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

SNV
Germline

Chr3:122257290

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795767

NM_000388.4(CASR):c.2011G>T (p.Glu671Ter)

SNV
Germline

Chr3:122283965

Pathogenic/Likely pathogenic

Nephrolithiasis/nephrocalcinosis
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004994961 RCV005218386

NM_002067.5(GNA11):c.446G>A (p.Arg149His)

SNV
Germline

Chr19:3113454

Likely pathogenic

Familial hypocalciuric hypercalcemia 2
Autosomal dominant hypocalcemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005022946

NM_000388.4(CASR):c.897G>A (p.Trp299Ter)

SNV
Germline

Chr3:122261932

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005034922

NM_000388.4(CASR):c.1661T>A (p.Ile554Asn)

SNV
Germline

Chr3:122282165

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005000772 RCV005223153

NM_000388.4(CASR):c.1732+2T>C

SNV
Germline

Chr3:122282238