| | LOC130005128, LOC130005129 +723 more | Copy number gain | See cases | |
| | LOC111718490, LOC112067719 +388 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BGLT3, A-GAMMA3'E +328 more | Deletion | Thalassemia, gamma-delta-beta | |
| | LINC02749, LOC106865369 +45 more | Copy number gain | See cases | |
| | | Insertion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided | |
| | LOC124418421, LOC130005165 +13 more | Deletion | Myopathy with tubular aggregates +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | LOC130005165, STIM1 (V3I +1 more) | Single nucleotide variant (missense variant +4 more) | Stormorken syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Microsatellite (inframe_deletion +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Myopathy with tubular aggregates +3 more | |
| | | Single nucleotide variant (missense variant +4 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Deletion (frameshift variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Myopathy, autophagic vacuolar, infantile-onset | |
| | | Single nucleotide variant (missense variant +3 more) | Myopathy, tubular aggregate, 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | STIM1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy, tubular aggregate, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy with tubular aggregates | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy, tubular aggregate, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |