Related gene-specific medical variations for Gene (Select 2348) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340095	NM_016729.3(FOLR1):c.562C>G (p.Leu188Val)	FOLR1 (L188V)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 3244663	NC_000011.9:g.(?_71906295)_(71907221_?)del	FOLR1	Deletion	Cerebral folate transport deficiency	GPathogenic
Select item 1322929	NM_016729.3(FOLR1):c.258G>A (p.Trp86Ter)	FOLR1 (W86*)	Single nucleotide variant (nonsense)	Cerebral folate transport deficiency	GPathogenic
Select item 975231	NM_016729.3(FOLR1):c.493+7G>T	FOLR1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 929424	NM_016729.3(FOLR1):c.197G>A (p.Cys66Tyr)	FOLR1 (C66Y)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GPathogenic

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