| | | Duplication | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (P44fs) | Deletion (frameshift variant) | Combined immunodeficiency due to ORAI1 deficiency | |
| | LOC130008987, ORAI1 (S48fs) | Duplication (frameshift variant +1 more) | ORAI1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P47fs) | Microsatellite (frameshift variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (T92I) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (G20I) | Indel (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (K87E) | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (G21R) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (Q58R) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (G35R) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (W55C) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (S89A) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P44L) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (L16I) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (L16F) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (V63M) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (T24I) | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P45A) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (S70fs) | Deletion (frameshift variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P39L) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (S27C) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (G35E) | Single nucleotide variant (missense variant +1 more) | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (R83C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion | not specified | |
| | | Duplication | not provided | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (A42G) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | ORAI1, LOC130008987 (G21C) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P44fs) | Deletion | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (S34I) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Indel | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (L96P) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (K85N) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S19fs) | Duplication | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Deletion | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (R32S) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P53S) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (P47Q) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S59fs) | Microsatellite | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P46S) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (R11L) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | ORAI1, LOC130008987 (D54G) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (L16R) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Microsatellite | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (W55*) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S13R) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (P9fs) | Microsatellite | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (G26S) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P47fs) | Microsatellite | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (P45fs) | Deletion | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (G20C) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P18A) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (P46fs) | Microsatellite (frameshift variant) | Combined immunodeficiency due to ORAI1 deficiency | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Indel | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S65N) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (P40L) | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | | Single nucleotide variant | Myopathy, tubular aggregate, 2 +1 more | |
| | LOC130008987, ORAI1 (S30G) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +2 more | |
| | LOC130008987, ORAI1 (S48F) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S12R) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (D36V) | Single nucleotide variant | Combined immunodeficiency due to ORAI1 deficiency +1 more | |
| | LOC130008987, ORAI1 (S19fs) | Deletion | Combined immunodeficiency due to ORAI1 deficiency +1 more | |