NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency|Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency|not provided
β
β
ββ2025β Residue 194
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2|not provided
β
β
ββ2024β Residue 268
NR_186857.1(ORAI1):n.906_909dupLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2025
NC_000012.12:g.121626961C>TPathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2025
NM_032790.4(ORAI1):c.505dup (p.His169fs)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2025β Residue 169
NM_032790.1(ORAI1):c.493dupPathogenic
Combined immunodeficiency due to ORAI1 deficiency
β
βββ2024
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser)Pathogenic
Myopathy, tubular aggregate, 2|Myopathy with tubular aggregates
β
βββ2024β Residue 98
NC_000012.12:g.121641254G>TPathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2024
NM_032790.3(ORAI1):c.131_132insGCCGCLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β
βββ2023
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)Pathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β
βββ2022β Residue 70
NC_000012.12:g.121641350C>TLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2022
NM_032790.4(ORAI1):c.777dup (p.Ser260Leufs)Likely pathogenic
not provided
β
βββ2022β Residue 260
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)Pathogenic
Myopathy, tubular aggregate, 2
β
βββ2022β Residue 97
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs)Likely pathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β
βββ2021β Residue 251
NC_000012.12:g.121641056G>APathogenic
Myopathy, tubular aggregate, 2;Combined immunodeficiency due to ORAI1 deficiency
β
βββ2020
NC_000012.12:g.121641283delLikely pathogenic
Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2
β
βββ2018
NM_032790.4(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48Profs)Pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β
βββ2017β Residue 48
NM_032790.4(ORAI1):c.129_133del (p.Pro44fs)Likely pathogenic
Combined immunodeficiency due to ORAI1 deficiency
β
ββββ Residue 44
NM_032790.4(ORAI1):c.734C>T (p.Pro245Leu)Pathogenic
Myopathy, tubular aggregate, 2
ββββ2014β Residue 245
NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu)Pathogenic
Combined immunodeficiency due to ORAI1 deficiency
ββββ2009β Residue 103