"Athena Diagnostics"[submitter] AND "CASR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342795	NM_000388.4(CASR):c.6A>C (p.Ala2=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +7 more	GConflicting classifications of pathogenicity
Select item 285281	NM_000388.4(CASR):c.60C>T (p.Tyr20=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +6 more	GConflicting classifications of pathogenicity
Select item 420105	NM_000388.4(CASR):c.61G>A (p.Gly21Arg)	CASR (G21R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372315	NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	CASR (R25*)	Single nucleotide variant (nonsense)	Autosomal dominant hypocalcemia 1 +5 more	GPathogenic/Likely pathogenic
Select item 447004	NM_000388.4(CASR):c.89G>A (p.Gly30Glu)	CASR (G30E)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 585617	NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	CASR (L34P)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GConflicting classifications of pathogenicity
Select item 35774	NM_000388.4(CASR):c.106G>A (p.Gly36Arg)	CASR (G36R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 279731	NM_000388.4(CASR):c.164C>T (p.Pro55Leu)	CASR (P55L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GPathogenic
Select item 463910	NM_000388.4(CASR):c.165G>A (p.Pro55=)	CASR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 838073	NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	CASR (E56*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +6 more	GPathogenic
Select item 571816	NM_000388.4(CASR):c.179G>T (p.Cys60Phe)	CASR (C60F)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 585620	NM_000388.4(CASR):c.197G>T (p.Arg66Leu)	CASR (R66L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 446988	NM_000388.4(CASR):c.199G>C (p.Gly67Arg)	CASR (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 35787	NM_000388.4(CASR):c.206G>A (p.Arg69His)	CASR (R69H)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GPathogenic/Likely pathogenic
Select item 463920	NM_000388.4(CASR):c.220A>C (p.Met74Leu)	CASR (M74L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +8 more	GUncertain significance
Select item 446996	NM_000388.4(CASR):c.262C>T (p.Leu88Phe)	CASR (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 463947	NM_000388.4(CASR):c.308C>T (p.Thr103Ile)	CASR (T103I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 585623	NM_000388.4(CASR):c.329C>A (p.Ala110Asp)	CASR (A110D)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 1478551	NM_000388.4(CASR):c.372C>A (p.Asn124Lys)	CASR (N124K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 446998	NM_000388.4(CASR):c.377A>T (p.Asp126Val)	CASR (D126V)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 237770	NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	CASR (G143R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 585624	NM_000388.4(CASR):c.449C>T (p.Ser150Phe)	CASR (S150F)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 1256483	NM_000388.4(CASR):c.467T>C (p.Leu156Pro)	CASR (L156P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 446999	NM_000388.4(CASR):c.470T>C (p.Leu157Pro)	CASR (L157P)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +1 more	GUncertain significance
Select item 2684152	NM_000388.4(CASR):c.488C>G (p.Pro163Arg)	CASR (P163R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 35799	NM_000388.4(CASR):c.492+19G>A	CASR	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1298934	NM_000388.4(CASR):c.518T>C (p.Leu173Pro)	CASR (L173P)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 410332	NM_000388.4(CASR):c.527A>G (p.Asn176Ser)	CASR (N176S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GUncertain significance
Select item 1807344	NM_000388.4(CASR):c.533A>G (p.Asn178Ser)	CASR (N178S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447000	NM_000388.4(CASR):c.551T>C (p.Leu184Pro)	CASR (L184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585625	NM_000388.4(CASR):c.554G>C (p.Arg185Pro)	CASR (R185P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 35801	NM_000388.4(CASR):c.554del (p.Arg185fs)	CASR (R185fs)	Deletion (frameshift variant)	Autosomal dominant hypocalcemia 1 +2 more	GPathogenic/Likely pathogenic
Select item 8314	NM_000388.4(CASR):c.554G>A (p.Arg185Gln)	CASR (R185Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 237771	NM_000388.4(CASR):c.573G>A (p.Glu191=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +7 more	GBenign/Likely benign
Select item 447001	NM_000388.4(CASR):c.587C>A (p.Ala196Asp)	CASR (A196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 959855	NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	CASR (Y218C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 431804	NM_000388.4(CASR):c.658C>T (p.Arg220Trp)	CASR (R220W)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +5 more	GPathogenic
Select item 60667	NM_000388.4(CASR):c.662C>T (p.Pro221Leu)	CASR (P221L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +7 more	GPathogenic
Select item 532618	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	CASR (R227*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 8331	NM_000388.4(CASR):c.680G>A (p.Arg227Gln)	CASR (R227Q)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 447002	NM_000388.4(CASR):c.707G>T (p.Cys236Phe)	CASR (C236F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196262	NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	CASR (E250K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GBenign/Likely benign
Select item 447003	NM_000388.4(CASR):c.823_824del (p.Asp275fs)	CASR (D275fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 410355	NM_000388.4(CASR):c.848T>C (p.Ile283Thr)	CASR (I283T)	Single nucleotide variant (missense variant)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 424581	NM_000388.4(CASR):c.893C>T (p.Ala298Val)	CASR (A298V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 804658	NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)	CASR (S417C)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 585618	NM_000388.4(CASR):c.1309T>C (p.Cys437Arg)	CASR (C437R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 1807341	NM_000388.4(CASR):c.1340G>T (p.Gly447Val)	CASR (G447V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068215	NM_000388.4(CASR):c.1376A>G (p.Gln459Arg)	CASR (Q459R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 410348	NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	CASR (R465W)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +4 more	GConflicting classifications of pathogenicity
Select item 8352	NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)	CASR (R465Q)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GPathogenic/Likely pathogenic
Select item 446985	NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)	CASR (Y489C)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 35778	NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)	CASR (G509R)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GPathogenic/Likely pathogenic
Select item 995329	NM_000388.4(CASR):c.1608+5del	CASR	Deletion (intron variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 1497367	NM_000388.4(CASR):c.1608+5G>A	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 652928	NM_000388.4(CASR):c.1658G>T (p.Gly553Val)	CASR (G563V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 804659	NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	CASR (I555T +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GPathogenic/Likely pathogenic
Select item 1036765	NM_000388.4(CASR):c.1687T>C (p.Phe563Leu)	CASR (F573L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 585619	NM_000388.4(CASR):c.1693T>G (p.Cys565Gly)	CASR (C565G +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 804660	NM_000388.4(CASR):c.1732+1G>T	CASR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1120666	NM_000388.4(CASR):c.1732+10C>T	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 257605	NM_000388.4(CASR):c.1732+16T>C	CASR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 446986	NM_000388.4(CASR):c.1765T>G (p.Phe589Val)	CASR (F589V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 237760	NM_000388.4(CASR):c.1775A>G (p.Asn592Ser)	CASR (N592S +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +7 more	GBenign
Select item 8350	NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)	CASR (E604K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia +4 more	GPathogenic
Select item 446987	NM_000388.4(CASR):c.1849del (p.Thr617fs)	CASR (T627fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1256478	NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)	CASR (F634S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 804661	NM_000388.4(CASR):c.1913dup (p.Asn639fs)	CASR (N639fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 938722	NM_000388.4(CASR):c.1919C>T (p.Thr640Ile)	CASR (T640I +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 1256479	NM_000388.4(CASR):c.2023T>C (p.Trp675Arg)	CASR (W675R +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 410347	NM_000388.4(CASR):c.2038C>T (p.Arg680Cys)	CASR (R680C +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GPathogenic
Select item 237763	NM_000388.4(CASR):c.2039G>A (p.Arg680His)	CASR (R680H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1256480	NM_000388.4(CASR):c.2042A>G (p.Gln681Arg)	CASR (Q681R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 446989	NM_000388.4(CASR):c.2045C>T (p.Pro682Leu)	CASR (P682L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1803241	NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)	CASR (G685D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 954700	NM_000388.4(CASR):c.2061C>A (p.Ser687Arg)	CASR (S697R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 237762	NM_000388.4(CASR):c.2064C>T (p.Phe688=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +8 more	GConflicting classifications of pathogenicity
Select item 1807343	NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)	CASR (C691G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804662	NM_000388.4(CASR):c.2097del (p.Asn700fs)	CASR (N700fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 446990	NM_000388.4(CASR):c.2101del (p.Arg701fs)	CASR (R701fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 585621	NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)	CASR (L704P +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 1256481	NM_000388.4(CASR):c.2129T>C (p.Ile710Thr)	CASR (I710T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256482	NM_000388.4(CASR):c.2154G>A (p.Trp718Ter)	CASR (W718* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 446991	NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)	CASR (Q735K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 446992	NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)	CASR (C739Y +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 1807342	NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)	CASR (P747R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936871	NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	CASR (P748R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GConflicting classifications of pathogenicity
Select item 463923	NM_000388.4(CASR):c.2243C>T (p.Pro748Leu)	CASR (P748L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 237764	NM_000388.4(CASR):c.2244= (p.Pro748=)	CASR	Single nucleotide variant (no sequence alteration)	not provided +2 more	GBenign
Select item 1807340	NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)	CASR (S769C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 821078	NM_000388.4(CASR):c.2314G>A (p.Ala772Thr)	CASR (A782T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 8312	NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	CASR (R795W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 804663	NM_000388.4(CASR):c.2392C>T (p.Pro798Ser)	CASR (P798S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 410346	NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)	CASR (P798L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GPathogenic/Likely pathogenic
Select item 804664	NM_000388.4(CASR):c.2397G>C (p.Glu799Asp)	CASR (E809D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 374153	NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	CASR (V817I +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GLikely pathogenic
Select item 804665	NM_000388.4(CASR):c.2454G>A (p.Trp818Ter)	CASR (W828* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 446993	NM_000388.4(CASR):c.2519C>T (p.Ala840Val)	CASR (A840V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 446994	NM_000388.4(CASR):c.2548G>A (p.Ala850Thr)	CASR (A850T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 446995	NM_000388.4(CASR):c.2549C>A (p.Ala850Glu)	CASR (A850E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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