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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXW7
(R674W +2 more)
Single nucleotide variant
(missense variant)
Developmental delay, hypotonia, and impaired language
+1 more
GPathogenic
ETFDH, FAM218A
+108 more
Copy number gain
not provided
GPathogenic