Related gene-specific medical variations for Gene (Select 2535) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441595	NM_001466.4(FZD2):c.407T>A (p.Leu136Gln)	FZD2 (L136Q)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 1098642	NM_001466.4(FZD2):c.400G>C (p.Glu134Gln)	FZD2 (E134Q)	Single nucleotide variant (missense variant)	Autosomal dominant omodysplasia	GUncertain significance
Select item 599512	NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)	FZD2 (L468R)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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