Related gene-specific medical variations for Gene (Select 9810) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266389	NM_001014979.3(CFAP119):c.106C>G (p.His36Asp)	CFAP119, RNF40 (H36D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143312	NM_001014979.3(CFAP119):c.62T>A (p.Leu21His)	CFAP119, RNF40 (L21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143311	NM_001014979.3(CFAP119):c.61C>A (p.Leu21Ile)	CFAP119, RNF40 (L21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143307	NM_001014979.3(CFAP119):c.56A>G (p.Glu19Gly)	CFAP119, RNF40 (E19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143302	NM_001014979.3(CFAP119):c.128G>A (p.Arg43His)	CFAP119, RNF40 (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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