Related gene-specific medical variations for Gene (Select 2295) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036232	NM_001452.2(FOXF2):c.447C>T (p.Arg149=)	FOXF2, MIR6720	Single nucleotide variant (non-coding transcript variant +1 more)	FOXF2-related disorder	GLikely benign
Select item 3031696	NM_001452.2(FOXF2):c.375G>A (p.Glu125=)	FOXF2, MIR6720	Single nucleotide variant (non-coding transcript variant +1 more)	FOXF2-related disorder	GLikely benign
Select item 1340925	GRCh37/hg19 6p25.3(chr6:1316161-1560121)x3	FOXF2	Copy number gain	not provided	GUncertain significance
Select item 156707	NM_001452.2(FOXF2):c.899C>G (p.Ala300Gly)	FOXF2 (A300G)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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