"GeneDx"[submitter] AND "CASR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 431803	NM_000388.4(CASR):c.-10C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant hypocalcemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 463950	NM_000388.4(CASR):c.40A>G (p.Thr14Ala)	CASR (T14A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +7 more	GConflicting classifications of pathogenicity
Select item 416109	NM_000388.4(CASR):c.57C>T (p.Ala19=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +3 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 463954	NM_000388.4(CASR):c.74G>A (p.Arg25Gln)	CASR (R25Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 193091	NM_000388.4(CASR):c.78C>G (p.Ala26=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +7 more	GBenign
Select item 422666	NM_000388.4(CASR):c.92A>G (p.Asp31Gly)	CASR (D31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280657	NM_000388.4(CASR):c.108dup (p.Leu37fs)	CASR (L37fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
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 410327	NM_000388.4(CASR):c.134C>A (p.Ala45Glu)	CASR (A45E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 532586	NM_000388.4(CASR):c.145C>G (p.Gln49Glu)	CASR (Q49E)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 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 8335	NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	CASR (R66C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 650821	NM_000388.4(CASR):c.197G>A (p.Arg66His)	CASR (R66H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 426266	NM_000388.4(CASR):c.363T>A (p.Asp121Glu)	CASR (D121E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 977805	NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	CASR (E127K)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GPathogenic/Likely pathogenic
Select item 35798	NM_000388.4(CASR):c.380A>G (p.Glu127Gly)	CASR (E127G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 8315	NM_000388.4(CASR):c.380A>C (p.Glu127Ala)	CASR (E127A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GPathogenic
Select item 426474	NM_000388.4(CASR):c.422T>C (p.Val141Ala)	CASR (V141A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576811	NM_000388.4(CASR):c.482A>G (p.Tyr161Cys)	CASR (Y161C)	Single nucleotide variant (missense variant)	not provided +1 more	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 1250476	NM_000388.4(CASR):c.493-133_493-132del	CASR	Microsatellite (intron variant)	not provided	GBenign
Select item 1268856	NM_000388.4(CASR):c.493-133T>C	CASR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292429	NM_000388.4(CASR):c.493-91C>T	CASR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421379	NM_000388.4(CASR):c.499T>A (p.Tyr167Asn)	CASR (Y167N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379844	NM_000388.4(CASR):c.514A>G (p.Arg172Gly)	CASR (R172G)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GPathogenic
Select item 257609	NM_000388.4(CASR):c.546T>A (p.Ser182=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +4 more	GBenign/Likely benign
Select item 420969	NM_000388.4(CASR):c.548T>C (p.Phe183Ser)	CASR (F183S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 419926	NM_000388.4(CASR):c.566A>G (p.Asn189Ser)	CASR (N189S)	Single nucleotide variant (missense variant)	Hypercalcemia +4 more	GUncertain significance
Select item 419616	NM_000388.4(CASR):c.577C>T (p.Gln193Ter)	CASR (Q193*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +2 more	GPathogenic
Select item 1303491	NM_000388.4(CASR):c.624G>T (p.Trp208Cys)	CASR (W208C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430465	NM_000388.4(CASR):c.649G>T (p.Asp217Tyr)	CASR (D217Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 279732	NM_000388.4(CASR):c.650A>G (p.Asp217Gly)	CASR (D217G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379352	NM_000388.4(CASR):c.652T>G (p.Tyr218Asp)	CASR (Y218D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 448997	NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	CASR (R220Q)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely pathogenic
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 427145	NM_000388.4(CASR):c.679C>G (p.Arg227Gly)	CASR (R227G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 373797	NM_000388.4(CASR):c.707G>A (p.Cys236Tyr)	CASR (C236Y)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 420744	NM_000388.4(CASR):c.725T>G (p.Leu242Arg)	CASR (L242R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 948876	NM_000388.4(CASR):c.767T>C (p.Val256Ala)	CASR (V256A)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
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 1305615	NM_000388.4(CASR):c.879G>T (p.Trp293Cys)	CASR (W293C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281446	NM_000388.4(CASR):c.885C>T (p.Ala295=)	CASR	Single nucleotide variant (synonymous variant)	not provided +3 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 1071747	NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)	CASR (W352*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 848992	NM_000388.4(CASR):c.1108G>A (p.Val370Met)	CASR (V370M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 532610	NM_000388.4(CASR):c.1110G>A (p.Val370=)	CASR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 463892	NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)	CASR (D382N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 501208	NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)	CASR (S388W)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 514905	NM_000388.4(CASR):c.1173C>T (p.Phe391=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +3 more	GLikely benign
Select item 620132	NM_000388.4(CASR):c.1174C>T (p.Arg392Ter)	CASR (R392*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +2 more	GPathogenic
Select item 372316	NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	CASR (C395R)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely pathogenic
Select item 420106	NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)	CASR (G397R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 64427	NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)	CASR (D398N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 578925	NM_000388.4(CASR):c.1206C>G (p.Ser402Arg)	CASR (S402R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 35775	NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)	CASR (R415Q)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 237756	NM_000388.4(CASR):c.1285C>T (p.His429Tyr)	CASR (H429Y)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 969787	NM_000388.4(CASR):c.1288G>T (p.Ala430Ser)	CASR (A430S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 35776	NM_000388.4(CASR):c.1333A>G (p.Thr445Ala)	CASR (T445A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +7 more	GBenign/Likely benign
Select item 463901	NM_000388.4(CASR):c.1370C>T (p.Ala457Val)	CASR (A457V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 512318	NM_000388.4(CASR):c.1377+17T>C	CASR	Single nucleotide variant (intron variant)	not specified +5 more	GLikely benign
Select item 566997	NM_000388.4(CASR):c.1412A>T (p.Asn471Ile)	CASR (N471I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GUncertain significance
Select item 532602	NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)	CASR (N488S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2203416	NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)	CASR (Y514C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1261156	NM_000388.4(CASR):c.1608+52G>A	CASR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192651	NM_000388.4(CASR):c.1609-89C>T	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +3 more	GBenign
Select item 373422	NM_000388.4(CASR):c.1619C>T (p.Ser540Phe)	CASR (S540F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 280428	NM_000388.4(CASR):c.1630C>T (p.Arg544Ter)	CASR (R544* +1 more)	Single nucleotide variant (nonsense)	Nephrolithiasis/nephrocalcinosis +3 more	GPathogenic
Select item 237758	NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)	CASR (R544Q +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +9 more	GConflicting classifications of pathogenicity
Select item 1205777	NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr)	CASR (C546Y +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 432667	NM_000388.4(CASR):c.1673A>G (p.Glu558Gly)	CASR (E558G +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GConflicting classifications of pathogenicity
Select item 2203417	NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)	CASR (C572Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 431805	NM_000388.4(CASR):c.1688T>C (p.Phe563Ser)	CASR (F563S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 257605	NM_000388.4(CASR):c.1732+16T>C	CASR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 853442	NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	CASR (C592S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GLikely pathogenic
Select item 1803360	NM_000388.4(CASR):c.1747A>G (p.Asn583Asp)	CASR (N583D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390375	NM_000388.4(CASR):c.1750A>T (p.Lys584Ter)	CASR (K584* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 453059	NM_000388.4(CASR):c.1789T>C (p.Ser597Pro)	CASR (S597P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 379289	NM_000388.4(CASR):c.1828G>T (p.Glu610Ter)	CASR (E610* +1 more)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 430216	NM_000388.4(CASR):c.1837G>A (p.Gly613Arg)	CASR (G613R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1303130	NM_000388.4(CASR):c.1868G>A (p.Gly623Asp)	CASR (G623D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 265466	NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)	CASR (R638L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 644647	NM_000388.4(CASR):c.2102G>A (p.Arg701His)	CASR (R701H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 418664	NM_000388.4(CASR):c.2154delinsCC (p.Trp718fs)	CASR (W718fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 35788	NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)	CASR (P758Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 35790	NM_000388.4(CASR):c.2254C>T (p.Arg752Cys)	CASR (R752C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1023499	NM_000388.4(CASR):c.2290A>C (p.Thr764Pro)	CASR (T764P +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 2498038	NM_000388.4(CASR):c.2299G>C (p.Glu767Gln)	CASR (E767Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 633483	NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	CASR (G768V +1 more)	Single nucleotide variant (missense variant)	CASR-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2103711	NM_000388.4(CASR):c.2330T>C (p.Ile777Thr)	CASR (I777T +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance

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