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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2AK3
(K346R +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+1 more
GConflicting classifications of pathogenicity
EIF2AK3
(K346* +1 more)
Duplication
(nonsense)
Wolcott-Rallison dysplasia
GPathogenic
EIF2AK3
(A29V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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