| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC128772255, LOC129935411 +1 more (D38N) | Single nucleotide variant (missense variant +3 more) | Autoimmune lymphoproliferative syndrome type 2B | |
| | | Single nucleotide variant (missense variant +3 more) | Autoimmune lymphoproliferative syndrome type 2B | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 2B +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 2B +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 2B | |
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