| | | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Myopathy with tubular aggregates +2 more | |
| | STIM1, LOC124418421 (M597V +9 more) | Single nucleotide variant (missense variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (G447A +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Indel (3 prime UTR variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 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) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (A430S +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy with tubular aggregates +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (S557N +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | 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 (missense variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | | Single nucleotide variant (intron variant +3 more) | Myopathy with tubular aggregates +2 more | |
| | LOC124418421, STIM1 (K605R +9 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (A422T +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (H512Y +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (A440S +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +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 +2 more | |
| | LOC124418421, STIM1 (S507A +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +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 +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Stormorken syndrome +2 more | |
| | | Deletion (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (M434T +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Stormorken syndrome +2 more | |
| | | Duplication (intron variant) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (L426P +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (P441L +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +2 more | |
| | LOC124418421, STIM1 (I501F +9 more) | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (P506S +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (H512N +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +4 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |
| | LOC124418421, STIM1 (I498V +9 more) | Single nucleotide variant (missense variant +2 more) | Combined immunodeficiency due to STIM1 deficiency +2 more | |