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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2AK3
(E672K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
EIF2AK3
(I586L +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GBenign
EIF2AK3
(D566V +1 more)
Single nucleotide variant
(missense variant)
Wolcott-Rallison dysplasia
+5 more
GConflicting classifications of pathogenicity
EIF2AK3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
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