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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIX
(R116fs +5 more)
Duplication
(frameshift variant)
Malan overgrowth syndrome
GPathogenic
NFIX
(R165P +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
GUncertain significance
NFIX
(A317fs +6 more)
Duplication
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
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