Related gene-specific medical variations for Gene (Select 84876) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244336	NC_000012.11:g.(?_122064648)_(122079549_?)dup	ORAI1	Duplication	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 3236451	NM_032790.4(ORAI1):c.129_133del (p.Pro44fs)	LOC130008987, ORAI1 (P44fs)	Deletion (frameshift variant)	Combined immunodeficiency due to ORAI1 deficiency	GLikely pathogenic
Select item 3035049	NM_032790.4(ORAI1):c.142dup (p.Ser48fs)	LOC130008987, ORAI1 (S48fs)	Duplication (frameshift variant +1 more)	ORAI1-related disorder	GLikely benign
Select item 3027354	NM_032790.4(ORAI1):c.66C>T (p.Ser22=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2951604	NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)	LOC130008987, ORAI1	Duplication (inframe_insertion +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2948849	NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)	LOC130008987, ORAI1 (P47fs)	Microsatellite (frameshift variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2943522	NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)	LOC130008987, ORAI1 (T92I)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2940955	NM_032790.4(ORAI1):c.271C>A (p.Arg91=)	ORAI1, LOC130008987	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2940091	NM_032790.4(ORAI1):c.303+13C>T	LOC130008987, ORAI1	Single nucleotide variant (intron variant)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2940059	NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)	LOC130008987, ORAI1 (G20I)	Indel (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2939075	NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)	LOC130008987, ORAI1 (K87E)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2938496	NM_032790.4(ORAI1):c.6T>C (p.His2=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2937355	NM_032790.4(ORAI1):c.171C>G (p.Gly57=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2937222	NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)	LOC130008987, ORAI1 (G21R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2937199	NM_032790.4(ORAI1):c.54A>G (p.Pro18=)	ORAI1, LOC130008987	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2937135	NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)	LOC130008987, ORAI1 (Q58R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2937007	NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)	LOC130008987, ORAI1 (G35R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936808	NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)	LOC130008987, ORAI1 (W55C)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936618	NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)	LOC130008987, ORAI1 (S89A)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936404	NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)	LOC130008987, ORAI1 (P44L)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936163	NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)	LOC130008987, ORAI1 (L16I)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2935148	NM_032790.4(ORAI1):c.201C>T (p.Asn67=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2935079	NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)	LOC130008987, ORAI1 (L16F)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2935000	NM_032790.4(ORAI1):c.187G>A (p.Val63Met)	LOC130008987, ORAI1 (V63M)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2934930	NM_032790.4(ORAI1):c.246C>T (p.Ser82=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2934909	NM_032790.4(ORAI1):c.102C>T (p.Ser34=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2932954	NM_032790.4(ORAI1):c.264C>G (p.Ala88=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2932668	NM_032790.4(ORAI1):c.159G>C (p.Pro53=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2932491	NM_032790.4(ORAI1):c.63C>T (p.Gly21=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2932106	NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)	LOC130008987, ORAI1 (T24I)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2931058	NM_032790.4(ORAI1):c.282T>C (p.Ala94=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2930744	NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)	LOC130008987, ORAI1 (P45A)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2930250	NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)	LOC130008987, ORAI1 (S70fs)	Deletion (frameshift variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GPathogenic
Select item 2928927	NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)	LOC130008987, ORAI1 (P39L)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2926484	NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2923413	NM_032790.4(ORAI1):c.21G>A (p.Pro7=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2923314	NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)	LOC130008987, ORAI1 (S27C)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2922477	NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)	LOC130008987, ORAI1 (G35E)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2643412	NM_032790.4(ORAI1):c.247C>T (p.Arg83Cys)	LOC130008987, ORAI1 (R83C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643411	NM_032790.4(ORAI1):c.123G>C (p.Gly41=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2577169	NM_032790.4(ORAI1):c.132_137delACCGCC (p.Pro46_Pro47del)	LOC130008987, ORAI1	Deletion	not specified	GBenign
Select item 2432388	NM_032790.4(ORAI1):c.777dup (p.Ser260Leufs)	ORAI1 (S260fs)	Duplication	not provided	GLikely pathogenic
Select item 2185541	NM_032790.4(ORAI1):c.264C>T (p.Ala88=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2171477	NM_032790.4(ORAI1):c.125C>G (p.Ala42Gly)	LOC130008987, ORAI1 (A42G)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2161001	NM_032790.4(ORAI1):c.61G>T (p.Gly21Cys)	ORAI1, LOC130008987 (G21C)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2160732	NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)	LOC130008987, ORAI1 (P44fs)	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2156524	NM_032790.4(ORAI1):c.303+17C>T	LOC130008987, ORAI1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2133634	NM_032790.4(ORAI1):c.18C>T (p.Ala6=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2132902	NM_032790.4(ORAI1):c.249C>T (p.Arg83=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2122738	NM_032790.4(ORAI1):c.101G>T (p.Ser34Ile)	LOC130008987, ORAI1 (S34I)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2118192	NM_032790.4(ORAI1):c.135G>A (p.Pro45=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2118143	NM_032790.4(ORAI1):c.200_210delACGAGCACTCCinsTG (p.Asn67_Ser70delinsMet)	LOC130008987, ORAI1	Indel	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2117233	NM_032790.4(ORAI1):c.183C>A (p.Ser61=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2113262	NM_032790.4(ORAI1):c.287T>C (p.Leu96Pro)	LOC130008987, ORAI1 (L96P)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2095149	NM_032790.4(ORAI1):c.120G>T (p.Pro40=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2087442	NM_032790.4(ORAI1):c.255G>C (p.Lys85Asn)	LOC130008987, ORAI1 (K85N)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2082528	NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)	LOC130008987, ORAI1 (S19fs)	Duplication	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2064007	NM_032790.4(ORAI1):c.58_72delGGCGGCAGCACCACC (p.Gly20_Thr24del)	LOC130008987, ORAI1	Deletion	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2052817	NM_032790.4(ORAI1):c.94C>A (p.Arg32Ser)	LOC130008987, ORAI1 (R32S)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2015057	NM_032790.4(ORAI1):c.157C>T (p.Pro53Ser)	LOC130008987, ORAI1 (P53S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2011599	NM_032790.4(ORAI1):c.210C>T (p.Ser70=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1999044	NM_032790.4(ORAI1):c.150C>T (p.Val50=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1993160	NM_032790.4(ORAI1):c.140C>A (p.Pro47Gln)	LOC130008987, ORAI1 (P47Q)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1984078	NM_032790.4(ORAI1):c.173_174AG[1] (p.Ser59Leufs)	LOC130008987, ORAI1 (S59fs)	Microsatellite	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1981900	NM_032790.4(ORAI1):c.136C>T (p.Pro46Ser)	LOC130008987, ORAI1 (P46S)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1975278	NM_032790.4(ORAI1):c.32G>T (p.Arg11Leu)	LOC130008987, ORAI1 (R11L)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1974522	NM_032790.4(ORAI1):c.161A>G (p.Asp54Gly)	ORAI1, LOC130008987 (D54G)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1972037	NM_032790.4(ORAI1):c.84C>G (p.Arg28=)	ORAI1, LOC130008987	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 1968192	NM_032790.4(ORAI1):c.294C>T (p.Gly98=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 1965503	NM_032790.4(ORAI1):c.47T>G (p.Leu16Arg)	LOC130008987, ORAI1 (L16R)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1960881	NM_032790.4(ORAI1):c.133_135CCG[4] (p.Pro47_Ser48insPro)	LOC130008987, ORAI1	Microsatellite	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1957362	NM_032790.4(ORAI1):c.164G>A (p.Trp55Ter)	LOC130008987, ORAI1 (W55*)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1957009	NM_032790.4(ORAI1):c.225C>G (p.Ser75=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1940671	NM_032790.4(ORAI1):c.37A>C (p.Ser13Arg)	LOC130008987, ORAI1 (S13R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1938672	NM_032790.4(ORAI1):c.16_20GCCCC[3] (p.Pro9Argfs)	LOC130008987, ORAI1 (P9fs)	Microsatellite	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1937802	NM_032790.4(ORAI1):c.76G>A (p.Gly26Ser)	LOC130008987, ORAI1 (G26S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1937401	NM_032790.4(ORAI1):c.51C>T (p.Pro17=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1936215	NM_032790.4(ORAI1):c.131CGC[3][1] (p.Pro47Hisfs)	LOC130008987, ORAI1 (P47fs)	Microsatellite	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1931681	NM_032790.4(ORAI1):c.156C>T (p.Tyr52=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1915432	NM_032790.4(ORAI1):c.132_133delAC (p.Pro45Alafs)	LOC130008987, ORAI1 (P45fs)	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1902722	NM_032790.4(ORAI1):c.58G>T (p.Gly20Cys)	LOC130008987, ORAI1 (G20C)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1902329	NM_032790.4(ORAI1):c.195C>T (p.Ser65=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 1897344	NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)	LOC130008987, ORAI1 (P3L)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1717834	NM_032790.4(ORAI1):c.52C>G (p.Pro18Ala)	LOC130008987, ORAI1 (P18A)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1696537	NM_032790.4(ORAI1):c.129_131GCC[2][1] (p.Pro47_Ser48insPro)	LOC130008987, ORAI1 (P46fs)	Microsatellite (frameshift variant)	Combined immunodeficiency due to ORAI1 deficiency	GUncertain significance
Select item 1605764	NM_032790.4(ORAI1):c.135G>T (p.Pro45=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1586750	NM_032790.4(ORAI1):c.75C>T (p.Ser25=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1583541	NM_032790.4(ORAI1):c.216G>A (p.Gln72=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1577121	NM_032790.4(ORAI1):c.138G>C (p.Pro46=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1570816	NM_032790.4(ORAI1):c.132A>C (p.Pro44=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1518367	NM_032790.4(ORAI1):c.17_18delCCinsTT (p.Ala6Val)	LOC130008987, ORAI1 (A6V)	Indel	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1517850	NM_032790.4(ORAI1):c.194G>A (p.Ser65Asn)	LOC130008987, ORAI1 (S65N)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1498025	NM_032790.4(ORAI1):c.119C>T (p.Pro40Leu)	LOC130008987, ORAI1 (P40L)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1494246	NM_032790.4(ORAI1):c.13C>G (p.Pro5Ala)	ORAI1, LOC130008987 (P5A)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1480656	NM_032790.4(ORAI1):c.88A>G (p.Ser30Gly)	LOC130008987, ORAI1 (S30G)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GUncertain significance
Select item 1479533	NM_032790.4(ORAI1):c.143C>T (p.Ser48Phe)	LOC130008987, ORAI1 (S48F)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1478545	NM_032790.4(ORAI1):c.34A>C (p.Ser12Arg)	LOC130008987, ORAI1 (S12R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1477712	NM_032790.4(ORAI1):c.5A>G (p.His2Arg)	ORAI1, LOC130008987 (H2R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1475829	NM_032790.4(ORAI1):c.107A>T (p.Asp36Val)	LOC130008987, ORAI1 (D36V)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1471300	NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs)	LOC130008987, ORAI1 (S19fs)	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance

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