ClinVar for MedGen (Select 87438) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954411	NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)	CASR (E350*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2954356	NM_000388.4(CASR):c.1755C>G (p.Cys585Trp)	CASR (C585W +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2954333	NM_000388.4(CASR):c.209G>C (p.Trp70Ser)	CASR (W70S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2954273	NM_000388.4(CASR):c.916G>C (p.Ala306Pro)	CASR (A306P)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2954205	NM_000388.4(CASR):c.919A>G (p.Met307Val)	CASR (M307V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2954156	NM_000388.4(CASR):c.2631A>C (p.Ala877=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2953825	NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)	CASR (I452F)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2953824	NM_000388.4(CASR):c.2346G>C (p.Leu782=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2953809	NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)	CASR (S448C)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2953709	NM_000388.4(CASR):c.2324T>C (p.Phe775Ser)	CASR (F785S +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2953623	NM_000388.4(CASR):c.2549C>T (p.Ala850Val)	CASR (A850V +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2953497	NM_000388.4(CASR):c.193T>A (p.Phe65Ile)	CASR (F65I)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953330	NM_000388.4(CASR):c.2288T>G (p.Ile763Ser)	CASR (I763S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953300	NM_000388.4(CASR):c.2095A>C (p.Thr699Pro)	CASR (T699P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953299	NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del)	CASR (S607del +1 more)	Microsatellite (inframe_deletion)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953202	NM_000388.4(CASR):c.2366T>C (p.Phe789Ser)	CASR (F799S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953145	NM_000388.4(CASR):c.820C>G (p.Pro274Ala)	CASR (P274A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2953087	NM_000388.4(CASR):c.906C>A (p.Ser302=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 2953086	NM_000388.4(CASR):c.492+4C>T	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952565	NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)	CASR (C571Y +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952539	NM_000388.4(CASR):c.2185T>C (p.Phe729Leu)	CASR (F739L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952491	NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)	CASR (A430fs)	Insertion (frameshift variant)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 2952335	NM_000388.4(CASR):c.1108G>C (p.Val370Leu)	CASR (V370L)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952296	NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)	CASR (E610A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952287	NM_000388.4(CASR):c.832C>G (p.Pro278Ala)	CASR (P278A)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952274	NM_000388.4(CASR):c.497G>A (p.Ser166Asn)	CASR (S166N)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952270	NM_000388.4(CASR):c.42_48del (p.Trp15fs)	CASR (W15fs)	Deletion (frameshift variant)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 2952269	NM_000388.4(CASR):c.1515T>C (p.Phe505=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 2952244	NM_000388.4(CASR):c.213A>G (p.Leu71=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 2952220	NM_000388.4(CASR):c.411T>C (p.Ser137=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely benign
Select item 2952205	NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)	CASR (G1068A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2952084	NM_000388.4(CASR):c.1916A>T (p.Asn639Ile)	CASR (N649I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2951962	NM_000388.4(CASR):c.457G>A (p.Val153Met)	CASR (V153M)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2951901	NM_000388.4(CASR):c.869G>A (p.Gly290Asp)	CASR (G290D)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2951839	NM_000388.4(CASR):c.142G>A (p.Asp48Asn)	CASR (D48N)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2951821	NM_000388.4(CASR):c.2282T>C (p.Ile761Thr)	CASR (I771T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2951593	NM_000388.4(CASR):c.551T>G (p.Leu184Arg)	CASR (L184R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2951522	NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)	CASR (P960L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2951424	NM_000388.4(CASR):c.826C>A (p.Leu276Ile)	CASR (L276I)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2951375	NM_000388.4(CASR):c.643G>A (p.Asp215Asn)	CASR (D215N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2951288	NM_000388.4(CASR):c.2658G>T (p.Arg886=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2951287	NM_000388.4(CASR):c.2652T>G (p.Ala884=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2951255	NM_000388.4(CASR):c.2281A>C (p.Ile761Leu)	CASR (I771L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950924	NM_000388.4(CASR):c.1608+7G>T	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2950841	NM_000388.4(CASR):c.521T>C (p.Leu174Pro)	CASR (L174P)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950671	NM_000388.4(CASR):c.2287A>C (p.Ile763Leu)	CASR (I763L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950670	NM_000388.4(CASR):c.1124G>C (p.Arg375Thr)	CASR (R375T)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950614	NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)	CASR (S794A +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950386	NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)	CASR (A693S +1 more)	Indel (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950149	NM_000388.4(CASR):c.2846C>A (p.Thr949Asn)	CASR (T949N +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950144	NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)	CASR (R465L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2950016	NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met)	CASR (V699M +1 more)	Indel (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949975	NM_000388.4(CASR):c.1149G>A (p.Arg383=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949969	NM_000388.4(CASR):c.1671G>A (p.Gly557=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949737	NM_000388.4(CASR):c.1029C>A (p.Val343=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949645	NM_000388.4(CASR):c.450C>T (p.Ser150=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949643	NM_000388.4(CASR):c.1941C>A (p.Asn647Lys)	CASR (N647K +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949592	NM_000388.4(CASR):c.589A>C (p.Met197Leu)	CASR (M197L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949427	NM_000388.4(CASR):c.971C>G (p.Ala324Gly)	CASR (A324G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949330	NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)	CASR (I452N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949245	NM_000388.4(CASR):c.1377+20A>C	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2949152	NM_000388.4(CASR):c.1198A>G (p.Asn400Asp)	CASR (N400D)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2949036	NM_000388.4(CASR):c.88G>C (p.Gly30Arg)	CASR (G30R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948882	NM_000388.4(CASR):c.185G>A (p.Arg62Lys)	CASR (R62K)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948871	NM_000388.4(CASR):c.352A>G (p.Asn118Asp)	CASR (N118D)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948844	NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr)	CASR (A1000T +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948769	NM_000388.4(CASR):c.413C>G (p.Thr138Arg)	CASR (T138R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948762	NM_000388.4(CASR):c.1127G>A (p.Gly376Asp)	CASR (G376D)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948680	NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)	CASR	Indel (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948557	NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)	CASR (L368*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2948449	NM_000388.4(CASR):c.1071C>T (p.Asn357=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2948405	NM_000388.4(CASR):c.2702G>A (p.Ser901Asn)	CASR (S911N +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948402	NM_000388.4(CASR):c.446T>C (p.Val149Ala)	CASR (V149A)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948335	NM_000388.4(CASR):c.462A>T (p.Ala154=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2948228	NM_000388.4(CASR):c.91G>C (p.Asp31His)	CASR (D31H)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2948151	NM_000388.4(CASR):c.244_247del (p.Asn82fs)	CASR (N82fs)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2948107	NM_000388.4(CASR):c.2518del (p.Ala840fs)	CASR (A840fs +1 more)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2948027	NM_000388.4(CASR):c.363T>C (p.Asp121=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2947883	NM_000388.4(CASR):c.2771T>C (p.Phe924Ser)	CASR (F934S +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2947770	NM_000388.4(CASR):c.489C>T (p.Pro163=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2947645	NM_000388.4(CASR):c.1483C>T (p.His495Tyr)	CASR (H495Y)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2947539	NM_000388.4(CASR):c.114T>A (p.Phe38Leu)	CASR (F38L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2947390	NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)	CASR (G571R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2947232	NM_000388.4(CASR):c.721del (p.Glu241fs)	CASR (E241fs)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2946808	NM_000388.4(CASR):c.3033G>A (p.Glu1011=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2946807	NM_000388.4(CASR):c.185+20C>T	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2946731	NM_000388.4(CASR):c.185+11G>A	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2946623	NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)	CASR (Y435C)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2946547	NM_000388.4(CASR):c.2513T>C (p.Val838Ala)	CASR (V838A +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2946238	NM_000388.4(CASR):c.1443G>A (p.Glu481=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2946117	NM_000388.4(CASR):c.2770T>G (p.Phe924Val)	CASR (F924V +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2946116	NM_000388.4(CASR):c.1114dup (p.Thr372fs)	CASR (T372fs)	Duplication (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2946062	NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)	CASR (L616fs +1 more)	Deletion (frameshift variant)	Familial hypocalciuric hypercalcemia +1 more	GPathogenic
Select item 2946013	NM_000388.4(CASR):c.1732+7G>C	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2945947	NM_000388.4(CASR):c.2475T>C (p.Tyr825=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2945946	NM_000388.4(CASR):c.2409A>G (p.Glu803=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2945784	NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)	CASR (T1018P +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2945633	NM_000388.4(CASR):c.1609-7C>T	CASR	Single nucleotide variant (synonymous variant +1 more)	Familial hypocalciuric hypercalcemia +1 more	GLikely benign
Select item 2945326	NM_000388.4(CASR):c.185+1G>A	CASR	Single nucleotide variant (splice donor variant)	Autosomal dominant hypocalcemia 1 +1 more	GLikely pathogenic
Select item 2945254	NM_000388.4(CASR):c.2983C>A (p.Gln995Lys)	CASR (Q1005K +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance

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