84876[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 1224104	NC_000012.12:g.121626333G>A	ORAI1	Single nucleotide variant	not provided	GBenign
Select item 1205576	NC_000012.12:g.121626524C>A	LOC130008987, ORAI1	Single nucleotide variant	not provided	GLikely benign
Select item 676708	NM_032790.4(ORAI1):c.-23C>T	LOC130008987, ORAI1	Single nucleotide variant	not provided	GLikely benign
Select item 392578	NM_032790.4(ORAI1):c.-16C>G	LOC130008987, ORAI1	Single nucleotide variant	not provided	GUncertain significance
Select item 193470	NM_032790.4(ORAI1):c.1A>T (p.Met1Leu)	LOC130008987, ORAI1 (M1L)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 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 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 644104	NM_032790.4(ORAI1):c.6T>G (p.His2Gln)	LOC130008987, ORAI1 (H2Q)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 662981	NM_032790.4(ORAI1):c.7C>T (p.Pro3Ser)	LOC130008987, ORAI1 (P3S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
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 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 717948	NM_032790.4(ORAI1):c.12G>T (p.Glu4Asp)	LOC130008987, ORAI1 (E4D)	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
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 854069	NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu)	LOC130008987, ORAI1 (P5L)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
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 1347190	NM_032790.4(ORAI1):c.17C>T (p.Ala6Val)	ORAI1, LOC130008987 (A6V)	Single nucleotide 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 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 937657	NM_032790.4(ORAI1):c.22C>T (p.Pro8Ser)	LOC130008987, ORAI1 (P8S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1021552	NM_032790.4(ORAI1):c.25C>T (p.Pro9Ser)	LOC130008987, ORAI1 (P9S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1043918	NM_032790.4(ORAI1):c.31C>T (p.Arg11Cys)	LOC130008987, ORAI1 (R11C)	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 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 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 652118	NM_032790.4(ORAI1):c.37A>T (p.Ser13Cys)	LOC130008987, ORAI1 (S13C)	Single nucleotide variant	not provided +2 more	GUncertain significance
Select item 957577	NM_032790.4(ORAI1):c.40C>G (p.Pro14Ala)	LOC130008987, ORAI1 (P14A)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1132684	NM_032790.4(ORAI1):c.42C>G (p.Pro14=)	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 1469344	NM_032790.4(ORAI1):c.43G>A (p.Glu15Lys)	LOC130008987, ORAI1 (E15K)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +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 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 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 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 541945	NM_032790.4(ORAI1):c.49C>T (p.Pro17Ser)	LOC130008987, ORAI1 (P17S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GLikely benign
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 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 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 1471300	NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs)	LOC130008987, ORAI1 (S19fs)	Deletion	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 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 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 1030055	NM_032790.4(ORAI1):c.58G>C (p.Gly20Arg)	LOC130008987, ORAI1 (G20R)	Single nucleotide variant	Myopathy, tubular aggregate, 2	GUncertain significance
Select item 963454	NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser)	LOC130008987, ORAI1 (G20S)	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 1327879	NM_032790.4(ORAI1):c.59G>A (p.Gly20Asp)	LOC130008987, ORAI1 (G20D)	Single nucleotide variant	not provided	GUncertain significance
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 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 1059594	NM_032790.4(ORAI1):c.64_81dup (p.Ser27_Arg28insSerThrThrSerGlySer)	LOC130008987, ORAI1	Duplication	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
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 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 1090927	NM_032790.4(ORAI1):c.69C>T (p.Thr23=)	LOC130008987, ORAI1	Single nucleotide variant	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 754685	NM_032790.4(ORAI1):c.72C>T (p.Thr24=)	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 1018535	NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg)	LOC130008987, ORAI1 (S25R)	Single nucleotide variant	Inborn genetic diseases +2 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 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 541943	NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)	LOC130008987, ORAI1	Duplication	Myopathy, tubular aggregate, 2 +2 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 1410978	NM_032790.4(ORAI1):c.85C>T (p.Arg29Trp)	LOC130008987, ORAI1 (R29W)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
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 1480656	NM_032790.4(ORAI1):c.88A>G (p.Ser30Gly)	LOC130008987, ORAI1 (S30G)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 962795	NM_032790.4(ORAI1):c.91_93CGC[6] (p.Arg33_Ser34insArgArgArg)	LOC130008987, ORAI1	Microsatellite (inframe_insertion)	Combined immunodeficiency due to ORAI1 deficiency +2 more	GUncertain significance
Select item 957405	NM_032790.4(ORAI1):c.91_93CGC[4] (p.Arg33_Ser34insArg)	LOC130008987, ORAI1	Microsatellite (inframe_insertion)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1063519	NM_032790.4(ORAI1):c.89G>A (p.Ser30Asn)	LOC130008987, ORAI1 (S30N)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +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 1398082	NM_032790.4(ORAI1):c.97C>G (p.Arg33Gly)	LOC130008987, ORAI1 (R33G)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 1023483	NM_032790.4(ORAI1):c.98G>A (p.Arg33His)	LOC130008987, ORAI1 (R33H)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 541941	NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)	LOC130008987, ORAI1 (S34R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1449735	NM_032790.4(ORAI1):c.109G>A (p.Gly37Arg)	LOC130008987, ORAI1 (G37R)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 650573	NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del)	LOC130008987, ORAI1	Deletion (inframe_deletion)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 963552	NM_032790.4(ORAI1):c.114G>C (p.Glu38Asp)	LOC130008987, ORAI1 (E38D)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 660638	NM_032790.4(ORAI1):c.114G>T (p.Glu38Asp)	LOC130008987, ORAI1 (E38D)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1423850	NM_032790.4(ORAI1):c.115C>T (p.Pro39Ser)	LOC130008987, ORAI1 (P39S)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 541940	NM_032790.4(ORAI1):c.115C>G (p.Pro39Ala)	LOC130008987, ORAI1 (P39A)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
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 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 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 784675	NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)	LOC130008987, ORAI1 (G41R)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
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 1099913	NM_032790.4(ORAI1):c.123G>A (p.Gly41=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 835802	NM_032790.4(ORAI1):c.124G>T (p.Ala42Ser)	LOC130008987, ORAI1 (A42S)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 746754	NM_032790.4(ORAI1):c.124G>A (p.Ala42Thr)	LOC130008987, ORAI1 (A42T)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
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 1447310	NM_032790.4(ORAI1):c.125C>T (p.Ala42Val)	LOC130008987, ORAI1 (A42V)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 1168535	NM_032790.4(ORAI1):c.128_131dup (p.Pro45Alafs)	LOC130008987, ORAI1 (P45fs)	Duplication	Myopathy, tubular aggregate, 2 +1 more	GBenign
Select item 2577169	NM_032790.4(ORAI1):c.132_137delACCGCC (p.Pro46_Pro47del)	LOC130008987, ORAI1	Deletion	not specified	GBenign

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