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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEF6
(G177R)
Single nucleotide variant
(missense variant)
Immunodeficiency 87 and autoimmunity
GUncertain significance
DEF6
(A617V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
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