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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIX
(Q102fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
GPathogenic
NFIX
(C115G +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
GUncertain significance