"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FOLR1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424988	NM_016729.3(FOLR1):c.11G>A (p.Arg4Gln)	FOLR1 (R4Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1789252	NM_016729.3(FOLR1):c.22C>A (p.Gln8Lys)	FOLR1 (Q8K)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GUncertain significance
Select item 196476	NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)	FOLR1 (R98W)	Single nucleotide variant (missense variant)	FOLR1-related condition +4 more	GBenign/Likely benign
Select item 95750	NM_016729.3(FOLR1):c.493+2T>C	FOLR1	Single nucleotide variant (splice donor variant)	FOLR1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1012987	NM_016729.3(FOLR1):c.494-2A>G	FOLR1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 870794	NM_016729.3(FOLR1):c.658A>C (p.Asn220His)	FOLR1 (N220H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar