ClinVar for Gene (Select 2348) - ClinVar - NCBI

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	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 3336670	NM_016729.3(FOLR1):c.242T>G (p.Leu81Arg)	FOLR1 (L81R)	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 3096208	NM_016729.3(FOLR1):c.80C>G (p.Ala27Gly)	FOLR1 (A27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096207	NM_016729.3(FOLR1):c.580A>T (p.Thr194Ser)	FOLR1 (T194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2994031	NM_016729.3(FOLR1):c.494-7del	FOLR1	Deletion (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2896304	NM_016729.3(FOLR1):c.198T>C (p.Cys66=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2852125	NM_016729.3(FOLR1):c.169-5T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2835572	NM_016729.3(FOLR1):c.181_182del (p.Arg61fs)	FOLR1 (R61fs)	Deletion (frameshift variant)	Cerebral folate transport deficiency	GPathogenic
Select item 2821299	NM_016729.3(FOLR1):c.476G>C (p.Gly159Ala)	FOLR1 (G159A)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2821188	NM_016729.3(FOLR1):c.144C>A (p.Gly48=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2821036	NM_016729.3(FOLR1):c.493+13G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2816873	NM_016729.3(FOLR1):c.765G>A (p.Leu255=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2791625	NM_016729.3(FOLR1):c.519T>C (p.Ala173=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2770592	NM_016729.3(FOLR1):c.337T>C (p.Leu113=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2718518	NM_016729.3(FOLR1):c.494-20G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2706937	NM_016729.3(FOLR1):c.531T>C (p.Pro177=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683160	NM_016729.3(FOLR1):c.407A>G (p.Lys136Arg)	FOLR1 (K136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2683159	NM_016729.3(FOLR1):c.256T>C (p.Trp86Arg)	FOLR1 (W86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614533	NM_016729.3(FOLR1):c.460A>G (p.Ser154Gly)	FOLR1 (S154G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585157	NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)	FOLR1 (E50K)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
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 2501867	NM_016729.3(FOLR1):c.227del (p.Lys76fs)	FOLR1 (K76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2426314	NC_000011.9:g.(?_71903218)_(71903405_?)dup	FOLR1	Duplication	Cerebral folate transport deficiency	GUncertain significance
Select item 2426313	NC_000011.9:g.(?_71903218)_(72019668_?)del	CLPB, FOLR1 +3 more	Deletion	Cerebral folate transport deficiency	GPathogenic
Select item 2280243	NM_016729.3(FOLR1):c.697A>T (p.Met233Leu)	FOLR1 (M233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272589	NM_016729.3(FOLR1):c.697A>G (p.Met233Val)	FOLR1 (M233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175762	NM_016729.3(FOLR1):c.112A>G (p.Met38Val)	FOLR1 (M38V)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2169448	NM_016729.3(FOLR1):c.646C>T (p.Pro216Ser)	FOLR1 (P216S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2144628	NM_016729.3(FOLR1):c.358-16T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2140700	NM_016729.3(FOLR1):c.169-19T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2137195	NM_016729.3(FOLR1):c.506G>A (p.Cys169Tyr)	FOLR1 (C169Y)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2132718	NM_016729.3(FOLR1):c.441C>T (p.Arg147=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2124231	NM_016729.3(FOLR1):c.744G>T (p.Leu248=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2121977	NM_016729.3(FOLR1):c.758T>C (p.Leu253Pro)	FOLR1 (L253P)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2121892	NM_016729.3(FOLR1):c.169-12T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2117354	NM_016729.3(FOLR1):c.141A>G (p.Pro47=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2116231	NM_016729.3(FOLR1):c.358-19T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2111064	NM_016729.3(FOLR1):c.366G>C (p.Gln122His)	FOLR1 (Q122H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2105569	NM_016729.3(FOLR1):c.715T>C (p.Trp239Arg)	FOLR1 (W239R)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2101635	NM_016729.3(FOLR1):c.169-17T>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2100355	NM_016729.3(FOLR1):c.379G>A (p.Glu127Lys)	FOLR1 (E127K)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2094116	NM_016729.3(FOLR1):c.265_267delinsAGA (p.Cys89Arg)	FOLR1 (C89R)	Indel (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2090222	NM_016729.3(FOLR1):c.53T>C (p.Val18Ala)	FOLR1 (V18A)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2084958	NM_016729.3(FOLR1):c.493+15G>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2057539	NM_016729.3(FOLR1):c.503A>T (p.Lys168Met)	FOLR1 (K168M)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2040233	NM_016729.3(FOLR1):c.42G>A (p.Val14=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2038195	NM_016729.3(FOLR1):c.331C>T (p.Pro111Ser)	FOLR1 (P111S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2024511	NM_016729.3(FOLR1):c.321C>A (p.Tyr107Ter)	FOLR1 (Y107*)	Single nucleotide variant (nonsense)	Cerebral folate transport deficiency	GPathogenic
Select item 2015192	NM_016729.3(FOLR1):c.403T>G (p.Cys135Gly)	FOLR1 (C135G)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2010805	NM_016729.3(FOLR1):c.621C>T (p.Gly207=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 2009251	NM_016729.3(FOLR1):c.291A>T (p.Lys97Asn)	FOLR1 (K97N)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 2004910	NM_016729.3(FOLR1):c.256T>G (p.Trp86Gly)	FOLR1 (W86G)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1997526	NM_016729.3(FOLR1):c.493+13G>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1993478	NM_016729.3(FOLR1):c.585C>T (p.His195=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1981689	NM_016729.3(FOLR1):c.494-3C>T	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1965092	NM_016729.3(FOLR1):c.168+10G>C	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1961802	NM_016729.3(FOLR1):c.79G>T (p.Ala27Ser)	FOLR1 (A27S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1960237	NM_016729.3(FOLR1):c.691G>A (p.Ala231Thr)	FOLR1 (A231T)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1957722	NM_016729.3(FOLR1):c.222C>A (p.Ala74=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1929917	NM_016729.3(FOLR1):c.169-13T>G	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1929916	NM_016729.3(FOLR1):c.169-14del	FOLR1	Deletion (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1928526	NM_016729.3(FOLR1):c.643G>A (p.Asp215Asn)	FOLR1 (D215N)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1917726	NM_016729.3(FOLR1):c.750A>C (p.Leu250=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1808063	GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3	ANAPC15, CLPB +8 more	Copy number gain	not provided	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 1756993	NM_016729.3(FOLR1):c.706G>A (p.Ala236Thr)	FOLR1 (A236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754147	NM_016729.3(FOLR1):c.654G>A (p.Gln218=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1753641	NM_016729.3(FOLR1):c.645C>T (p.Asp215=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1744810	NM_016729.3(FOLR1):c.501C>T (p.Asn167=)	FOLR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1739679	NM_016729.3(FOLR1):c.431A>G (p.Glu144Gly)	FOLR1 (E144G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736678	NM_016729.3(FOLR1):c.397C>A (p.Pro133Thr)	FOLR1 (P133T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1676682	NM_016729.3(FOLR1):c.621_622delinsT (p.Arg208fs)	FOLR1 (R208fs)	Indel (frameshift variant)	Cerebral folate transport deficiency	GPathogenic
Select item 1641412	NM_016729.3(FOLR1):c.493+18C>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1637370	NM_016729.3(FOLR1):c.493+19A>G	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1609707	NM_016729.3(FOLR1):c.387A>G (p.Val129=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1603608	NM_016729.3(FOLR1):c.522C>T (p.Ala174=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1597396	NM_016729.3(FOLR1):c.282T>C (p.Pro94=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1583859	NM_016729.3(FOLR1):c.597C>T (p.Val199=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1573610	NM_016729.3(FOLR1):c.169-7C>T	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1558398	NM_016729.3(FOLR1):c.570T>C (p.Asn190=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1543610	NM_016729.3(FOLR1):c.18A>G (p.Thr6=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1542487	NM_016729.3(FOLR1):c.168+11G>A	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1534817	NM_016729.3(FOLR1):c.459G>A (p.Lys153=)	FOLR1	Single nucleotide variant (synonymous variant)	Cerebral folate transport deficiency	GLikely benign
Select item 1527647	GRCh37/hg19 11q13.4(chr11:71567724-72488649)	ANAPC15, ARAP1 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1522717	NM_016729.3(FOLR1):c.343C>T (p.Pro115Ser)	FOLR1 (P115S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1513624	NM_016729.3(FOLR1):c.169-7C>G	FOLR1	Single nucleotide variant (intron variant)	Cerebral folate transport deficiency	GLikely benign
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 1506061	NM_016729.3(FOLR1):c.374G>A (p.Arg125His)	FOLR1 (R125H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency +1 more	GUncertain significance
Select item 1505189	NM_016729.3(FOLR1):c.311C>A (p.Thr104Asn)	FOLR1 (T104N)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1502112	NM_016729.3(FOLR1):c.380A>G (p.Glu127Gly)	FOLR1 (E127G)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1484063	NM_016729.3(FOLR1):c.357+3_357+4delinsTA	FOLR1	Indel (intron variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1474389	NM_016729.3(FOLR1):c.685T>C (p.Tyr229His)	FOLR1 (Y229H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1465705	NM_016729.3(FOLR1):c.176C>A (p.Pro59His)	FOLR1 (P59H)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1464643	NM_016729.3(FOLR1):c.92C>G (p.Thr31Ser)	FOLR1 (T31S)	Single nucleotide variant (missense variant)	Cerebral folate transport deficiency	GUncertain significance
Select item 1459749	NM_016729.3(FOLR1):c.330_333dup (p.Asn112fs)	FOLR1 (N112fs)	Duplication (frameshift variant)	Cerebral folate transport deficiency	GPathogenic

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