"GeneDx"[submitter] AND "FOLR1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 510642	NM_016725.3(FOLR1):c.-30G>A	FOLR1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 387573	NM_016725.3(FOLR1):c.-9+9C>T	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 157589	NM_000802.3(FOLR1):c.-20G>A	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252638	NM_000802.3(FOLR1):c.-9+153G>A	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296043	NM_000802.3(FOLR1):c.-9+516G>A	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232499	NM_000802.3(FOLR1):c.-9+603C>T	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293890	NM_000802.3(FOLR1):c.-9+695C>T	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1236976	NM_000802.3(FOLR1):c.-9+870A>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306023	NM_016729.3(FOLR1):c.-14C>T	FOLR1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 393190	NM_016729.3(FOLR1):c.1A>G (p.Met1Val)	FOLR1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 516078	NM_016729.3(FOLR1):c.9G>A (p.Gln3=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 424988	NM_016729.3(FOLR1):c.11G>A (p.Arg4Gln)	FOLR1 (R4Q)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 205452	NM_016729.3(FOLR1):c.13A>G (p.Met5Val)	FOLR1 (M5V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1037610	NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys)	FOLR1 (W15C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 377890	NM_016729.3(FOLR1):c.57A>G (p.Val19=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +1 more	GConflicting classifications of pathogenicity
Select item 452139	NM_016729.3(FOLR1):c.59G>C (p.Gly20Ala)	FOLR1 (G20A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377891	NM_016729.3(FOLR1):c.81A>C (p.Ala27=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 418217	NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)	FOLR1 (N35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1117436	NM_016729.3(FOLR1):c.111C>T (p.Cys37=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 380419	NM_016729.3(FOLR1):c.117C>T (p.Asn39=)	FOLR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1208080	NM_016729.3(FOLR1):c.124C>A (p.His42Asn)	FOLR1 (H42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195316	NM_016729.3(FOLR1):c.157T>C (p.Leu53=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1506526	NM_016729.3(FOLR1):c.163G>A (p.Glu55Lys)	FOLR1 (E55K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 514627	NM_016729.3(FOLR1):c.168+9G>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 514217	NM_016729.3(FOLR1):c.168+13G>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 673508	NM_016729.3(FOLR1):c.168+37G>T	FOLR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673528	NM_016729.3(FOLR1):c.168+46G>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680243	NM_016729.3(FOLR1):c.169-186C>G	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670907	NM_016729.3(FOLR1):c.169-94T>G	FOLR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259098	NM_016729.3(FOLR1):c.169-71T>C	FOLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429856	NM_016729.3(FOLR1):c.190G>T (p.Ala64Ser)	FOLR1 (A64S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388110	NM_016729.3(FOLR1):c.192C>T (p.Ala64=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 196475	NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)	FOLR1 (Q72R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2501867	NM_016729.3(FOLR1):c.227del (p.Lys76fs)	FOLR1 (K76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 388369	NM_016729.3(FOLR1):c.237C>T (p.Ser79=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 167083	NM_016729.3(FOLR1):c.261C>T (p.Asn87=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205453	NM_016729.3(FOLR1):c.281C>G (p.Pro94Arg)	FOLR1 (P94R)	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)	Cerebral folate transport deficiency +3 more	GBenign/Likely benign
Select item 2571987	NM_016729.3(FOLR1):c.317T>C (p.Leu106Pro)	FOLR1 (L106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 450195	NM_016729.3(FOLR1):c.322G>A (p.Glu108Lys)	FOLR1 (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 515149	NM_016729.3(FOLR1):c.333C>T (p.Pro111=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +1 more	GLikely benign
Select item 372855	NM_016729.3(FOLR1):c.357+1G>A	FOLR1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 284695	NM_016729.3(FOLR1):c.357+8T>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 388516	NM_016729.3(FOLR1):c.357+18C>A	FOLR1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 382335	NM_016729.3(FOLR1):c.358-18T>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1067993	NM_016729.3(FOLR1):c.358-2A>G	FOLR1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1685824	NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)	FOLR1 (R125C)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1311141	NM_016729.3(FOLR1):c.391A>G (p.Asn131Asp)	FOLR1 (N131D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377892	NM_016729.3(FOLR1):c.396G>A (p.Val132=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +2 more	GBenign/Likely benign
Select item 205455	NM_016729.3(FOLR1):c.412G>A (p.Asp138Asn)	FOLR1 (D138N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516079	NM_016729.3(FOLR1):c.447C>T (p.Ser149=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 578648	NM_016729.3(FOLR1):c.451A>G (p.Thr151Ala)	FOLR1 (T151A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205451	NM_016729.3(FOLR1):c.489T>C (p.Thr163=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1310979	NM_016729.3(FOLR1):c.493G>T (p.Gly165Trp)	FOLR1 (G165W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95750	NM_016729.3(FOLR1):c.493+2T>C	FOLR1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 388857	NM_016729.3(FOLR1):c.493+12G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency +1 more	GLikely benign
Select item 510898	NM_016729.3(FOLR1):c.493+20G>A	FOLR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 205460	NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)	FOLR1 (A170T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197831	NM_016729.3(FOLR1):c.510A>G (p.Ala170=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 306025	NM_016729.3(FOLR1):c.588C>T (p.Ser196=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 429907	NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter)	FOLR1 (R204*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 589022	NM_016729.3(FOLR1):c.677C>T (p.Ala226Val)	FOLR1 (A226V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205457	NM_016729.3(FOLR1):c.694G>A (p.Ala232Thr)	FOLR1 (A232T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381061	NM_016729.3(FOLR1):c.714C>T (p.Pro238=)	FOLR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 197830	NM_016729.3(FOLR1):c.719C>T (p.Ala240Val)	FOLR1 (A240V)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +2 more	GConflicting classifications of pathogenicity
Select item 205459	NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)	FOLR1 (W242R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1226790	NC_000011.10:g.72196438T>C	FOLR1	Single nucleotide variant	not provided	GBenign
Select item 1296311	NC_000011.10:g.72196454C>T	FOLR1	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71