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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAPBP
(Y293H +1 more)
Single nucleotide variant
(missense variant)
MHC class I deficiency
GUncertain significance
TAPBP
(N114K)
Single nucleotide variant
(missense variant +1 more)
MHC class I deficiency
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
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