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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2B4, GTF3C2-AS2
(N455K +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EIF2B4, GTF3C2-AS2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic