| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Myopathy, tubular aggregate, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Combined immunodeficiency due to STIM1 deficiency +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Stormorken syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stormorken syndrome +3 more | |
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