All variants in the ORAI1 gene

Information The variants shown are described using the NM_032790.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.12G>T r.(?) p.(Glu4Asp) - likely benign g.122064659G>T - ORAI1(NM_032790.3):c.12G>T (p.E4D) - ORAI1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.32G>A r.(?) p.(Arg11His) - likely benign g.122064679G>A - ORAI1(NM_032790.3):c.32G>A (p.R11H) - ORAI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.85_99dup r.(?) p.(Arg29_Arg33dup) - VUS g.122064732_122064746dup g.121626827_121626841dup ORAI1(NM_032790.3):c.85_99dupCGGAGCCGCCGCCGC (p.R29_R33dup) - ORAI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.100A>C r.(?) p.(Ser34Arg) - likely benign g.122064747A>C g.121626842A>C ORAI1(NM_032790.3):c.100A>C (p.S34R) - ORAI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.100A>C r.(?) p.(Ser34Arg) - VUS g.122064747A>C - ORAI1(NM_032790.3):c.100A>C (p.S34R) - ORAI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.113_121del r.(?) p.(Glu38_Pro40del) - VUS g.122064760_122064768del - ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del) - ORAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.113_121del r.(?) p.(Glu38_Pro40del) - VUS g.122064760_122064768del - ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del) - ORAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.113_121del r.(?) p.(Glu38_Pro40del) - VUS g.122064760_122064768del - ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del) - ORAI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.121G>A r.(?) p.(Gly41Arg) - likely benign g.122064768G>A g.121626863G>A ORAI1(NM_032790.3):c.121G>A (p.G41R) - ORAI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.126_127= r.(=) p.(Ala42=) - benign g.122064785_122064790del g.121626879_121626884del ORAI1(NM_032790.3):c.132_137delACCGCC (p.P46_P47del) - ORAI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.131_132insGCCGCACCGCC r.(?) p.(Pro46HisfsTer22) - likely benign g.122064778_122064779insGCCGC g.121626872_121626873insGCCGC ORAI1(NM_032790.3):c.131_132insGCCGC (p.P46Hfs*20) - ORAI1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.132A>G r.(?) p.(Pro44=) - likely benign g.122064785A>G - ORAI1(NM_032790.3):c.132A>G (p.P44=) - ORAI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.135_136insT r.(?) p.(Pro46SerfsTer42) - likely benign g.122064788_122064789insT - ORAI1(NM_032790.3):c.135_136insT (p.P46Sfs*42) - ORAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.135_136insT r.(?) p.(Pro46SerfsTer42) - likely benign g.122064788_122064789insT - ORAI1(NM_032790.3):c.135_136insT (p.P46Sfs*42) - ORAI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.138_143del r.(?) p.(Pro48_Pro49del) - VUS g.122064785_122064790del - WT - ORAI1_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Onouchi 2016, Journal: Onouchi 2016 - rs141919534 Germline - 4/2414 controls - - - Johan den Dunnen
?/. 1 c.138_143del r.(?) p.(Pro48_Pro49del) - VUS g.122064785_122064790del - WT - ORAI1_000006 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Onouchi 2016, Journal: Onouchi 2016 - rs141919534 Germline - 2410/2414 controls - - - Johan den Dunnen
+?/. 1 c.138_143del r.(?) p.(Pro48_Pro49del) - likely pathogenic g.122064785_122064790del - WT - ORAI1_000006 associates with Kawasaki disease (OR 3.80, P 0.012); NOTE: 2528 cases homozygous for this variant Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Onouchi 2016, Journal: Onouchi 2016 - rs141919534 Germline - 16/2544 cases - - - Johan den Dunnen
-?/. - c.142dup r.(?) p.(Ser48Phefs*40) - likely benign g.122064795dup - ORAI1(NM_032790.3):c.141_142insT (p.(Pro48fs)) - ORAI1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.181T>C r.(?) p.(Ser61Pro) - likely benign g.122064834T>C - ORAI1(NM_032790.3):c.181T>C (p.S61P) - ORAI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.181T>C r.(?) p.(Ser61Pro) - VUS g.122064834T>C - ORAI1(NM_032790.3):c.181T>C (p.S61P) - ORAI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.184G>T r.(?) p.(Glu62Ter) - VUS g.122064837G>T g.121626931G>T ORAI1(NM_032790.3):c.184G>T (p.E62*) - ORAI1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.202G>T r.(?) p.(Glu68*) - VUS g.122064855G>T - ORAI1(NM_032790.3):c.202G>T (p.(Glu68*)) - ORAI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.202G>T r.(?) p.(Glu68*) - VUS g.122064855G>T - ORAI1(NM_032790.3):c.202G>T (p.(Glu68*)) - ORAI1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.298G>A r.(?) p.(Gly100Ser) - pathogenic g.122064945G>A - 292G>A (Gly98Ser) - ORAI1_000001 de novo in mother; functional studies performed Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Endo 2015 - - De novo yes - - - - Johan den Dunnen
+/. 1 c.298G>A r.(?) p.(Gly100Ser) - pathogenic g.122064945G>A - 292G>A (Gly98Ser) - ORAI1_000001 inheritance in mother unknown Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Endo 2015 - - Germline yes - - - - Johan den Dunnen
+/. 1 c.298G>A r.(?) p.(Gly100Ser) - pathogenic g.122064945G>A - 292G>A - ORAI1_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - De novo - - - - - Johann Böhm
+?/. - c.319G>A r.(?) p.(Val107Met) ACMG likely pathogenic (dominant) g.122078956G>A g.121641056G>A - - ORAI1_000030 ACMG: PS3_MOD, PS4_MOD, PM2_SUP, PP1 PMID: 28058752, 30382595 VCV001069742.5 - Germline ? - - - - Andreas Laner
+/. 2 c.325G>A r.(?) p.(Val109Met) - pathogenic g.122078962G>A - - - ORAI1_000004 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline yes - - - - Johann Böhm
-?/. - c.408T>C r.(?) p.(Phe136=) - likely benign g.122079051T>C - ORAI1(NM_032790.3):c.408T>C (p.F136=) - ORAI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.412C>T r.(?) p.(Leu138Phe) - pathogenic g.122079055C>T g.121641149C>T 412C>T (Leu138Phe) - ORAI1_000002 functional analysis variant PubMed: Endo 2015 - - Unknown - - - - - Johan den Dunnen
+/. - c.412C>T r.(?) p.(Leu138Phe) ACMG pathogenic (dominant) g.122079055C>T g.121641149C>T - - ORAI1_000002 - - - rs786204797 De novo - - - - - Maria Elena García Paya
?/. - c.468T>A r.(?) p.(Asn156Lys) - VUS g.122079111T>A - ORAI1(NM_032790.3):c.468T>A (p.N156K) - ORAI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.473A>G r.(?) p.(Asn158Ser) - VUS g.122079116A>G g.121641210A>G ORAI1(NM_032790.3):c.473A>G (p.N158S) - ORAI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.517G>A r.(?) p.(Glu173Lys) - VUS g.122079160G>A - ORAI1(NM_032790.3):c.517G>A (p.E173K) - ORAI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 c.557C>T r.(?) p.(Thr186Met) - pathogenic g.122079194C>T - - - ORAI1_000005 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline/De novo (untested) - - - - - Johann Böhm
-?/. - c.648C>T r.(?) p.(Pro216=) - likely benign g.122079291C>T - ORAI1(NM_032790.3):c.648C>T (p.P216=) - ORAI1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 2 c.658A>G r.(?) p.(Ser220Gly) - likely pathogenic g.122079295A>G - A>G (Ser218Gly) - ORAI1_000007 associated with Kawasaki disease (OR 1.21, P 0.00041); 577/1813 heterozygotes Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Onouchi 2016, Journal: Onouchi 2016 - rs3741596 Germline - 64/1813 cases - - - Johan den Dunnen
?/. 2 c.658A>G r.(?) p.(Ser220Gly) - VUS g.122079295A>G - A>G (Ser218Gly) - ORAI1_000007 311/1097 heterozygots Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs3741596 Germline - 26/1097 controls - - - Johan den Dunnen
-?/. - c.668A>G r.(?) p.(Asn223Ser) - likely benign g.122079311A>G - ORAI1(NM_032790.3):c.668A>G (p.N223S) - ORAI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.668A>G r.(?) p.(Asn223Ser) - likely benign g.122079311A>G - ORAI1(NM_032790.3):c.668A>G (p.N223S) - ORAI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.712G>A r.(?) p.(Ala238Thr) - VUS g.122079355G>A - ORAI1(NM_032790.3):c.712G>A (p.A238T) - ORAI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 c.740C>T r.(?) p.(Pro247Leu) - pathogenic g.122079377C>T - 734C>T (Pro244Leu) - ORAI1_000003 functional analysis variant Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Nesin 2014, OMIM:var0002 - rs587777528 Germline yes - - - - Johan den Dunnen
-/. - c.798T>C r.(?) p.(Thr266=) - benign g.122079441T>C g.121641535T>C ORAI1(NM_032790.3):c.798T>C (p.T266=) - ORAI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.884C>T r.(?) p.(Thr295Met) - VUS g.122079527C>T - ORAI1(NM_032790.3):c.884C>T (p.T295M) - ORAI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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