"PreventionGenetics, part of Exact Sciences"[submitter] AND "FOLR1"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196475	NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)	FOLR1 (Q72R)	Single nucleotide variant (missense variant)	FOLR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 167083	NM_016729.3(FOLR1):c.261C>T (p.Asn87=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 196476	NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)	FOLR1 (R98W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 137387	NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2770592	NM_016729.3(FOLR1):c.337T>C (p.Leu113=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +1 more	GLikely benign
Select item 470724	NM_016729.3(FOLR1):c.393C>T (p.Asn131=)	FOLR1	Single nucleotide variant (synonymous variant)	FOLR1-related disorder +1 more	GLikely benign
Select item 516079	NM_016729.3(FOLR1):c.447C>T (p.Ser149=)	FOLR1	Single nucleotide variant (synonymous variant)	FOLR1-related disorder +3 more	GLikely benign
Select item 95750	NM_016729.3(FOLR1):c.493+2T>C	FOLR1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205460	NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)	FOLR1 (A170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity