| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC130001436, DOCK8 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Combined immunodeficiency due to DOCK8 deficiency | |
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