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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disorder of folate metabolism and transport (MONDO:0017313)
Parent Node: inborn vitamin metabolic disorder (MONDO:0005528)
Parent Node: inherited neurodegenerative disorder (MONDO:0024237)
..Starting node ..neurodegenerative syndrome due to cerebral folate transport deficiency ()
Child Nodes:
Sister Nodes:
..adult spinal muscular atrophy ()
..Alexander disease ()
..angioid streaks of choroid ()
..attenuated ChC)diak-Higashi syndrome ()
..autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures ()
..autosomal recessive cerebral atrophy ()
..boylan dew greco syndrome ()
..Canavan disease ()
..Chediak-Higashi syndrome ()
..Cockayne syndrome ()
..deafness dystonia syndrome () L: 00113;
..dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
..early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ()
..encephalopathy due to beta-mercaptolactate-cysteine disulfiduria ()
..facial onset sensory and motor neuronopathy ()
..familial amyotrophic lateral sclerosis ()
..familial infantile bilateral striatal necrosis () L: 00075;
..fatal post-viral neurodegenerative disorder ()
..ferro-cerebro-cutaneous syndrome ()
..genetic neurodegenerative disease with dementia ()
..GM2 gangliosidosis ()
..hereditary optic atrophy ()
..hereditary spastic paraplegia ()
..Huntington disease and related disorders ()
..hypotonia-speech impairment-severe cognitive delay syndrome ()
..infantile cerebellar-retinal degeneration () L: 00108;
..infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ()
..intermediate spinal muscular atrophy ()
..ITPA-related encephalopathy ()
..juvenile spinal muscular atrophy ()
..Krabbe disease ()
..lateral sclerosis ()
..leukoencephalopathy-metaphyseal chondrodysplasia syndrome ()
..microphthalmia-brain atrophy syndrome ()
..mitochondrial DNA depletion syndrome 4a () L: 00032;
..multiple mitochondrial dysfunctions syndrome 4 () L: 00530;
..multiple sclerosis, susceptibility to, 2 ()
..multiple sclerosis, susceptibility to, 3 ()
..multiple sclerosis, susceptibility to, 4 ()
..muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..myoclonic cerebellar dyssynergia ()
..neurodegenerative syndrome due to cerebral folate transport deficiency ()
..neuronal ceroid lipofuscinosis ()
..neuronal intranuclear inclusion disease ()
..neuronopathy, distal hereditary motor, type 2A ()
..neuronopathy, distal hereditary motor, type 7A ()
..Parkinson disease 18, autosomal dominant, susceptibility to ()
..Parkinson disease 5, autosomal dominant, susceptibility to ()
..PEHO syndrome ()
..Pelizaeus-Merzbacher disease ()
..posterior cortical atrophy ()
..psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..radiation sensitivity/chromosome instability syndrome, autosomal dominant ()
..recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ()
..severe neurodegenerative syndrome with lipodystrophy ()
..striatonigral degeneration, childhood-onset ()
..tuberous sclerosis ()
..vitreoretinal degeneration ()
..X-linked adrenoleukodystrophy ()
..X-linked neurodegenerative syndrome, Bertini type ()
..X-linked neurodegenerative syndrome, Hamel type ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

13110

Name:

neurodegenerative syndrome due to cerebral folate transport deficiency

Definition:

Alternative IDs:

613068

ParentIDs:

TreeNumbers:

Synonyms:

cerebral folate deficiency syndrome; cerebral folate receptor alpha deficiency; cerebral folate transport deficiency; neurodegeneration due to cerebral folate TRANSPORT deficiency

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 613068;
MSeqDR :
Genes: FOLR1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002376	Developmental regression
3	HP:0001249	Intellectual disability
4	HP:0002180	Neurodegeneration
5	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)	2348	FOLR1	Pathogenic/Likely pathogenic	752503322	RCV002249991\|RCV003128851;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71906671	71906671	71906671	-
NC_000011.9:g.(?_71903218)_(71903405_?)del	2348	FOLR1	Pathogenic	-1	RCV001949643;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903218	71903405	-1	-
NC_000011.9:g.(?_71903218)_(72019668_?)del	2348	FOLR1	Pathogenic	-1	RCV003119752;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903218	72019668		-
NM_016729.3(FOLR1):c.130_147dup (p.Lys44_Pro49dup)	2348	FOLR1	Pathogenic	121918843	RCV000017645;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903345	71903346	NC_000011.9:g.71903347_71903364dup	OMIM:136430.0003	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.197G>A (p.Cys66Tyr)	2348	FOLR1	Pathogenic	779015471	RCV001268929;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906343	71906343	11:g.71906343G>A	-
NM_016729.3(FOLR1):c.257G>A (p.Trp86Ter)	2348	FOLR1	Pathogenic	1555069069	RCV000533599;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906403	71906403	11:g.71906403G>A	ClinGen:CA381732205	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.258G>A (p.Trp86Ter)	2348	FOLR1	Pathogenic	2135388308	RCV001783304;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906404	71906404	71906404	-
NM_016729.3(FOLR1):c.321C>A (p.Tyr107Ter)	2348	FOLR1	Pathogenic	-1	RCV002847745;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906467	71906467	NC_000011.9:g.71906467C>A	-
NM_016729.3(FOLR1):c.330_333dup (p.Asn112fs)	2348	FOLR1	Pathogenic	767252235	RCV001959157;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906474	71906475	71906474	-
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)	2348	FOLR1	Pathogenic	121918405	RCV000017643\|RCV000725453;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN517202	11	71906498	71906498	11:g.71906498C>T	ClinGen:CA126338,OMIM:136430.0001	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.428G>A (p.Trp143Ter)	2348	FOLR1	Pathogenic	2135388735	RCV001386599;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906726	71906726	71906726	-
NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter)	2348	FOLR1	Pathogenic	121918406	RCV000017644;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906972	71906972	11:g.71906972C>A	ClinGen:CA126340,OMIM:136430.0002	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.584_587del (p.His195fs)	2348	FOLR1	Pathogenic	753776182	RCV001380189;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907027	71907030	71907026	-
NM_016729.3(FOLR1):c.621_622delinsT (p.Arg208fs)	2348	FOLR1	Pathogenic	2135389163	RCV002221995;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907068	71907069	71907068	-
NM_016729.3(FOLR1):c.358-2A>G	2348	FOLR1	Likely pathogenic	369395654	RCV001379409\|RCV001565728;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71906654	71906654	71906654	-
NM_016729.3(FOLR1):c.465_466delinsTG (p.Trp156Gly)	2348	FOLR1	Likely pathogenic	1591246507	RCV000792232;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906763	71906764	NC_000011.9:g.71906763_71906764delinsTG	-
NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter)	2348	FOLR1	Likely pathogenic	952165627	RCV000494464\|RCV001048202;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907057	71907057	11:g.71907057C>T	ClinGen:CA224405712	CN517202 not provided;
NC_000011.9:g.(?_71146401)_(71907241_?)dup	2348	FOLR1	Uncertain significance	-1	RCV001031374;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71146401	71907241	-1	-
NC_000011.10:g.72189540C>T	2348	FOLR1	Likely benign	189949559	RCV001406789;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71900584	71900584		-
NM_016725.2(FOLR1):c.-122C>G	2348	FOLR1	Uncertain significance	886048641	RCV000397874;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71900690	71900690	NC_000011.9:g.71900690C>G	ClinGen:CA10631506	C2751584 613068 Cerebral folate deficiency;
NM_016725.3(FOLR1):c.-27G>A	2348	FOLR1	Uncertain significance	1948132799	RCV001110438;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71900785	71900785	11:g.71900785G>A	-
NM_016729.3(FOLR1):c.-14C>T	2348	FOLR1	Conflicting interpretations of pathogenicity	375060832	RCV000279389\|RCV001718622;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71903204	71903204	NC_000011.9:g.71903204C>T	ClinGen:CA6169093	C2751584 613068 Cerebral folate deficiency;
NC_000011.9:g.(?_71903218)_(71903405_?)dup	2348	FOLR1	Uncertain significance	-1	RCV003119753;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903218	71903405		-
NM_016729.3(FOLR1):c.8A>G (p.Gln3Arg)	2348	FOLR1	Uncertain significance	1261674339	RCV002034961;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903225	71903225	71903225	-
NM_016729.3(FOLR1):c.10C>T (p.Arg4Trp)	2348	FOLR1	Uncertain significance	112062510	RCV001997302;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903227	71903227	71903227	-
NM_016729.3(FOLR1):c.11G>A (p.Arg4Gln)	2348	FOLR1	Uncertain significance	145380453	RCV000487548\|RCV002526999;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903228	71903228	11:g.71903228G>A	ClinGen:CA6169098	CN517202 not provided;
NM_016729.3(FOLR1):c.13A>G (p.Met5Val)	2348	FOLR1	Uncertain significance	371565364	RCV000723894\|RCV000793516\|RCV002390491;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71903230	71903230	NC_000011.9:g.71903230A>G	ClinGen:CA314535	CN169374 not specified;
NM_016729.3(FOLR1):c.17C>T (p.Thr6Ile)	2348	FOLR1	Uncertain significance	1159477597	RCV001212045;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903234	71903234	11:g.71903234C>T	-
NM_016729.3(FOLR1):c.18A>G (p.Thr6=)	2348	FOLR1	Likely benign	1279081270	RCV002170255;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903235	71903235	71903235	-
NM_016729.3(FOLR1):c.22C>A (p.Gln8Lys)	2348	FOLR1	Uncertain significance	-1	RCV002457547\|RCV003101208\|RCV003403826;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71903239	71903239	71903239	-
NM_016729.3(FOLR1):c.42G>A (p.Val14=)	2348	FOLR1	Likely benign	-1	RCV002886321;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903259	71903259		-
NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys)	2348	FOLR1	Uncertain significance	200261943	RCV001340794\|RCV001820039\|RCV001843585\|RCV002547402;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN169374\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	71903262	71903262	71903262	-
NM_016729.3(FOLR1):c.53T>C (p.Val18Ala)	2348	FOLR1	Uncertain significance	-1	RCV003003350;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903270	71903270	NC_000011.9:g.71903270T>C	-
NM_016729.3(FOLR1):c.54A>T (p.Val18=)	2348	FOLR1	Likely benign	1591243659	RCV000944930;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903271	71903271	11:g.71903271A>T	-
NM_016729.3(FOLR1):c.57A>G (p.Val19=)	2348	FOLR1	Conflicting interpretations of pathogenicity	769589754	RCV000428251\|RCV001111179;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903274	71903274	11:g.71903274A>G	ClinGen:CA6169104	CN169374 not specified;
NM_016729.3(FOLR1):c.59G>C (p.Gly20Ala)	2348	FOLR1	Uncertain significance	566120497	RCV000520315\|RCV001202649;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903276	71903276	11:g.71903276G>C	ClinGen:CA381729215	CN169374 not specified;
NM_016729.3(FOLR1):c.59G>A (p.Gly20Glu)	2348	FOLR1	Uncertain significance	566120497	RCV001919983;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903276	71903276	71903276	-
NM_016729.3(FOLR1):c.65C>T (p.Ala22Val)	2348	FOLR1	Uncertain significance	1565363926	RCV002312427\|RCV003106031;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903282	71903282	NC_000011.9:g.71903282C>T	-
NM_016729.3(FOLR1):c.68A>G (p.Gln23Arg)	2348	FOLR1	Uncertain significance	2135385432	RCV001374024;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903285	71903285	71903285	-
NM_016729.3(FOLR1):c.71C>T (p.Thr24Ile)	2348	FOLR1	Uncertain significance	1038476253	RCV000817680\|RCV002535454;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71903288	71903288	11:g.71903288C>T	-
NM_016729.3(FOLR1):c.79G>T (p.Ala27Ser)	2348	FOLR1	Uncertain significance	-1	RCV002720952;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903296	71903296	NC_000011.9:g.71903296G>T	-
NM_016729.3(FOLR1):c.81A>C (p.Ala27=)	2348	FOLR1	Likely benign	1057520285	RCV000527102\|RCV001718828;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71903298	71903298	11:g.71903298A>C	ClinGen:CA16606324	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.92C>T (p.Thr31Ile)	2348	FOLR1	Uncertain significance	1304635865	RCV001350857;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903309	71903309	71903309	-
NM_016729.3(FOLR1):c.92C>G (p.Thr31Ser)	2348	FOLR1	Uncertain significance	1304635865	RCV001998006;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903309	71903309	71903309	-
NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)	2348	FOLR1	Conflicting interpretations of pathogenicity	149216939	RCV000487220\|RCV001088548\|RCV001821387\|RCV002395143;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	11	71903320	71903320	11:g.71903320A>G	ClinGen:CA6169107	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.111C>T (p.Cys37=)	2348	FOLR1	Likely benign	997052303	RCV001446165\|RCV001598687;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71903328	71903328	71903328	-
NM_016729.3(FOLR1):c.112A>G (p.Met38Val)	2348	FOLR1	Uncertain significance	-1	RCV002582039;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903329	71903329	NC_000011.9:g.71903329A>G	-
NM_016729.3(FOLR1):c.117C>T (p.Asn39=)	2348	FOLR1	Likely benign	376392205	RCV000863627\|RCV001720056\|RCV002318406;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	71903334	71903334	11:g.71903334C>T	ClinGen:CA6169110	CN169374 not specified;
NM_016729.3(FOLR1):c.118G>A (p.Ala40Thr)	2348	FOLR1	Uncertain significance	766928917	RCV001322850\|RCV002318759;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71903335	71903335	NC_000011.9:g.71903335G>A	-
NM_016729.3(FOLR1):c.123G>C (p.Lys41Asn)	2348	FOLR1	Uncertain significance	1948167008	RCV001057597;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903340	71903340	11:g.71903340G>C	-
NM_016729.3(FOLR1):c.138G>A (p.Lys46=)	2348	FOLR1	Likely benign	752262458	RCV001391816;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903355	71903355	71903355	-
NM_016729.3(FOLR1):c.139C>G (p.Pro47Ala)	2348	FOLR1	Uncertain significance	1555068662	RCV000647365;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903356	71903356	11:g.71903356C>G	ClinGen:CA381729897	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.141A>G (p.Pro47=)	2348	FOLR1	Likely benign	-1	RCV003027699;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903358	71903358		-
NM_016729.3(FOLR1):c.147C>T (p.Pro49=)	2348	FOLR1	Likely benign	758121091	RCV000939205;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903364	71903364	11:g.71903364C>T	-
NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)	2348	FOLR1	Uncertain significance	-1	RCV003337773;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903365	71903365		-
NM_016729.3(FOLR1):c.156G>C (p.Lys52Asn)	2348	FOLR1	Uncertain significance	2135385560	RCV001875755;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903373	71903373	71903373	-
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)	2348	FOLR1	Conflicting interpretations of pathogenicity	143413500	RCV000187413\|RCV000723888\|RCV001085778\|RCV002312715;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71903374	71903374	11:g.71903374T>C	ClinGen:CA241692	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.162T>C (p.His54=)	2348	FOLR1	Likely benign	2135385566	RCV001461399;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903379	71903379	71903379	-
NM_016729.3(FOLR1):c.163G>A (p.Glu55Lys)	2348	FOLR1	Uncertain significance	1370692247	RCV002036012\|RCV002274247;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900	11	71903380	71903380	71903380	-
NM_016729.3(FOLR1):c.165G>A (p.Glu55=)	2348	FOLR1	Likely benign	143835232	RCV001461690;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903382	71903382	71903382	-
NM_016729.3(FOLR1):c.168+3G>A	2348	FOLR1	Uncertain significance	886048642	RCV000350846;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903388	71903388	NC_000011.9:g.71903388G>A	ClinGen:CA10635637	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.168+8del	2348	FOLR1	Likely benign	762496618	RCV000544608;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903393	71903393	11:g.71903393_71903393del	ClinGen:CA6169119	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.168+10G>C	2348	FOLR1	Likely benign	-1	RCV002740484;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903395	71903395	NC_000011.9:g.71903395G>C	-
NM_016729.3(FOLR1):c.168+11G>A	2348	FOLR1	Likely benign	1313443369	RCV002167283;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71903396	71903396	71903396	-
NM_016729.3(FOLR1):c.169-19T>C	2348	FOLR1	Likely benign	-1	RCV003056581;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906296	71906296	NC_000011.9:g.71906296T>C	-
NM_016729.3(FOLR1):c.169-17T>C	2348	FOLR1	Likely benign	-1	RCV003017009;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906298	71906298	NC_000011.9:g.71906298T>C	-
NM_016729.3(FOLR1):c.169-14del	2348	FOLR1	Likely benign	-1	RCV002645622;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906301	71906301	NC_000011.9:g.71906301del	-
NM_016729.3(FOLR1):c.169-13T>G	2348	FOLR1	Likely benign	-1	RCV002626548;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906302	71906302	NC_000011.9:g.71906302T>G	-
NM_016729.3(FOLR1):c.169-12T>C	2348	FOLR1	Likely benign	-1	RCV003049386;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906303	71906303	NC_000011.9:g.71906303T>C	-
NM_016729.3(FOLR1):c.169-8C>A	2348	FOLR1	Likely benign	1221189280	RCV000552918;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906307	71906307	11:g.71906307C>A	ClinGen:CA658658080	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.169-7C>G	2348	FOLR1	Likely benign	1297822149	RCV002026261;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906308	71906308	71906308	-
NM_016729.3(FOLR1):c.169-7C>T	2348	FOLR1	Likely benign	1297822149	RCV002217750;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906308	71906308	71906308	-
NM_016729.3(FOLR1):c.171T>C (p.Cys57=)	2348	FOLR1	Likely benign	930764783	RCV001468432;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906317	71906317	71906317	-
NM_016729.3(FOLR1):c.173G>A (p.Arg58Gln)	2348	FOLR1	Uncertain significance	138575051	RCV001055574;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906319	71906319	11:g.71906319G>A	-
NM_016729.3(FOLR1):c.176C>A (p.Pro59His)	2348	FOLR1	Uncertain significance	1275551543	RCV001990345;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906322	71906322	71906322	-
NM_016729.3(FOLR1):c.176C>G (p.Pro59Arg)	2348	FOLR1	Uncertain significance	1275551543	RCV002049590;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906322	71906322	71906322	-
NM_016729.3(FOLR1):c.190G>T (p.Ala64Ser)	2348	FOLR1	Uncertain significance	1131691637	RCV000493078\|RCV001328968;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906336	71906336	11:g.71906336G>T	ClinGen:CA381731727	CN169374 not specified;
NM_016729.3(FOLR1):c.192C>T (p.Ala64=)	2348	FOLR1	Likely benign	1057523002	RCV000432736\|RCV002522420;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906338	71906338	11:g.71906338C>T	ClinGen:CA16606327	CN169374 not specified;
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)	2348	FOLR1	Conflicting interpretations of pathogenicity	148345688	RCV000723981\|RCV001084422\|RCV002426854;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906361	71906361	11:g.71906361A>G	ClinGen:CA243436	CN169374 not specified;
NM_016729.3(FOLR1):c.222C>A (p.Ala74=)	2348	FOLR1	Likely benign	-1	RCV002690841;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906368	71906368		-
NM_016729.3(FOLR1):c.223C>T (p.His75Tyr)	2348	FOLR1	Uncertain significance	1948212646	RCV001224477;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906369	71906369	11:g.71906369C>T	-
NM_016729.3(FOLR1):c.224A>G (p.His75Arg)	2348	FOLR1	Uncertain significance	1591245965	RCV000815488;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906370	71906370	11:g.71906370A>G	-
NM_016729.3(FOLR1):c.232G>A (p.Val78Ile)	2348	FOLR1	Uncertain significance	1417053720	RCV001061062;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906378	71906378	11:g.71906378G>A	-
NM_016729.3(FOLR1):c.237C>T (p.Ser79=)	2348	FOLR1	Likely benign	867175310	RCV000439862\|RCV000868256\|RCV002451028;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906383	71906383	11:g.71906383C>T	ClinGen:CA16606328	CN169374 not specified;
NM_016729.3(FOLR1):c.244T>C (p.Tyr82His)	2348	FOLR1	Uncertain significance	950917027	RCV001958208;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906390	71906390	71906390	-
NM_016729.3(FOLR1):c.247A>C (p.Arg83=)	2348	FOLR1	Likely benign	1948213319	RCV001437506;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906393	71906393	71906393	-
NM_016729.3(FOLR1):c.256T>G (p.Trp86Gly)	2348	FOLR1	Uncertain significance	-1	RCV002828396;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906402	71906402	NC_000011.9:g.71906402T>G	-
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)	2348	FOLR1	Conflicting interpretations of pathogenicity	375444839	RCV000153255\|RCV000397872\|RCV000723781\|RCV002433669;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	71906407	71906407	11:g.71906407C>T	ClinGen:CA234024	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.265_267delinsAGA (p.Cys89Arg)	2348	FOLR1	Uncertain significance	-1	RCV002996978;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906411	71906413	NC_000011.9:g.71906411_71906413delinsAGA	-
NM_016729.3(FOLR1):c.278C>T (p.Ala93Val)	2348	FOLR1	Uncertain significance	1006659128	RCV001309671;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906424	71906424	71906424	-
NM_016729.3(FOLR1):c.281C>G (p.Pro94Arg)	2348	FOLR1	Uncertain significance	759712157	RCV000187418\|RCV001201542\|RCV002311265;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906427	71906427	11:g.71906427C>G	ClinGen:CA314538	CN169374 not specified;
NM_016729.3(FOLR1):c.282T>C (p.Pro94=)	2348	FOLR1	Likely benign	765796999	RCV002117744;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906428	71906428	71906428	-
NM_016729.3(FOLR1):c.291A>T (p.Lys97Asn)	2348	FOLR1	Uncertain significance	-1	RCV002838227;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906437	71906437	NC_000011.9:g.71906437A>T	-
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)	2348	FOLR1	Benign/Likely benign	76191655	RCV000177293\|RCV000487848\|RCV000545936\|RCV002317029;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906438	71906438	11:g.71906438C>T	ClinGen:CA202392	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.293G>A (p.Arg98Gln)	2348	FOLR1	Uncertain significance	764420714	RCV000703960;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906439	71906439	NC_000011.9:g.71906439G>A	-	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.309C>T (p.Asp103=)	2348	FOLR1	Likely benign	1488664788	RCV001473365;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906455	71906455	71906455	-
NM_016729.3(FOLR1):c.311C>A (p.Thr104Asn)	2348	FOLR1	Uncertain significance	766989831	RCV002020414;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906457	71906457	71906457	-
NM_016729.3(FOLR1):c.312C>G (p.Thr104=)	2348	FOLR1	Uncertain significance	749885216	RCV002043979;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906458	71906458	71906458	-
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)	2348	FOLR1	Benign/Likely benign	145674759	RCV000125140\|RCV000647366\|RCV002316365;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906467	71906467	NC_000011.9:g.71906467C>T	ClinGen:CA290943	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.322G>A (p.Glu108Lys)	2348	FOLR1	Uncertain significance	1555069113	RCV000524015\|RCV002525156;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906468	71906468	11:g.71906468G>A	ClinGen:CA381732559	CN169374 not specified;
NM_016729.3(FOLR1):c.322G>C (p.Glu108Gln)	2348	FOLR1	Uncertain significance	1555069113	RCV000800884;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906468	71906468	11:g.71906468G>C	-
NM_016729.3(FOLR1):c.331C>T (p.Pro111Ser)	2348	FOLR1	Uncertain significance	-1	RCV002890540;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906477	71906477	NC_000011.9:g.71906477C>T	-
NM_016729.3(FOLR1):c.333C>T (p.Pro111=)	2348	FOLR1	Likely benign	772210412	RCV000614640\|RCV002528631;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906479	71906479	11:g.71906479C>T	ClinGen:CA224404682	CN169374 not specified;
NM_016729.3(FOLR1):c.343C>T (p.Pro115Ser)	2348	FOLR1	Uncertain significance	749242260	RCV002036215;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906489	71906489	71906489	-
NM_016729.3(FOLR1):c.357+3_357+4delinsTA	2348	FOLR1	Uncertain significance	2135388488	RCV002005516;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906506	71906507	71906506	-
NM_016729.3(FOLR1):c.357+6C>A	2348	FOLR1	Uncertain significance	1312955398	RCV001035153;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906509	71906509	11:g.71906509C>A	-
NM_016729.3(FOLR1):c.357+8T>A	2348	FOLR1	Conflicting interpretations of pathogenicity	886042924	RCV000311284\|RCV000725511\|RCV001498772;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906511	71906511	11:g.71906511T>A	ClinGen:CA10604875	CN169374 not specified;
NM_016729.3(FOLR1):c.357+18C>A	2348	FOLR1	Likely benign	754798966	RCV000432559\|RCV002063415;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906521	71906521	11:g.71906521C>A	ClinGen:CA6169158	CN169374 not specified;
NM_016729.3(FOLR1):c.358-19T>C	2348	FOLR1	Likely benign	-1	RCV003024616;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906637	71906637	NC_000011.9:g.71906637T>C	-
NM_016729.3(FOLR1):c.358-16T>C	2348	FOLR1	Likely benign	-1	RCV003063030;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906640	71906640	NC_000011.9:g.71906640T>C	-
NM_016729.3(FOLR1):c.366G>C (p.Gln122His)	2348	FOLR1	Uncertain significance	-1	RCV003023861;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906664	71906664	NC_000011.9:g.71906664G>C	-
NM_016729.3(FOLR1):c.374G>A (p.Arg125His)	2348	FOLR1	Uncertain significance	1202769307	RCV002004355;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906672	71906672	71906672	-
NM_016729.3(FOLR1):c.379G>A (p.Glu127Lys)	2348	FOLR1	Uncertain significance	-1	RCV003014355;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906677	71906677	NC_000011.9:g.71906677G>A	-
NM_016729.3(FOLR1):c.380A>G (p.Glu127Gly)	2348	FOLR1	Uncertain significance	964480401	RCV002010900;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906678	71906678	71906678	-
NM_016729.3(FOLR1):c.382C>T (p.Arg128Trp)	2348	FOLR1	Uncertain significance	200728335	RCV001924691;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906680	71906680	71906680	-
NM_016729.3(FOLR1):c.383G>A (p.Arg128Gln)	2348	FOLR1	Uncertain significance	996350831	RCV001053188;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906681	71906681	11:g.71906681G>A	-
NM_016729.3(FOLR1):c.387A>G (p.Val129=)	2348	FOLR1	Likely benign	1948219692	RCV002155309;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906685	71906685	71906685	-
NM_016729.3(FOLR1):c.391A>G (p.Asn131Asp)	2348	FOLR1	Uncertain significance	1029995293	RCV001758650\|RCV001868505;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906689	71906689	71906689	-
NM_016729.3(FOLR1):c.393C>T (p.Asn131=)	2348	FOLR1	Likely benign	61735636	RCV001445646;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906691	71906691	NC_000011.9:g.71906691C>T	ClinGen:CA6169182	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.396G>A (p.Val132=)	2348	FOLR1	Benign/Likely benign	35179028	RCV000445209\|RCV000862373\|RCV002318385;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906694	71906694	11:g.71906694G>A	ClinGen:CA6169184	CN169374 not specified;
NM_016729.3(FOLR1):c.403T>G (p.Cys135Gly)	2348	FOLR1	Uncertain significance	-1	RCV002839335;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906701	71906701	NC_000011.9:g.71906701T>G	-
NM_016729.3(FOLR1):c.415T>C (p.Cys139Arg)	2348	FOLR1	Uncertain significance	772484521	RCV001300888\|RCV002327649;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906713	71906713	71906713	-
NM_016729.3(FOLR1):c.419A>T (p.Glu140Val)	2348	FOLR1	Uncertain significance	2135388722	RCV001874173;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906717	71906717	71906717	-
NM_016729.3(FOLR1):c.435T>C (p.Asp145=)	2348	FOLR1	Likely benign	557643537	RCV001490875;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906733	71906733	71906733	-
NM_016729.3(FOLR1):c.437G>A (p.Cys146Tyr)	2348	FOLR1	Uncertain significance	2135388749	RCV001902375;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906735	71906735	71906735	-
NM_016729.3(FOLR1):c.439C>T (p.Arg147Cys)	2348	FOLR1	Uncertain significance	1222897077	RCV001347716\|RCV002329333;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71906737	71906737	71906737	-
NM_016729.3(FOLR1):c.440G>A (p.Arg147His)	2348	FOLR1	Uncertain significance	753241819	RCV000824101;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906738	71906738	11:g.71906738G>A	-
NM_016729.3(FOLR1):c.441C>T (p.Arg147=)	2348	FOLR1	Likely benign	-1	RCV003056094;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906739	71906739		-
NM_016729.3(FOLR1):c.447C>T (p.Ser149=)	2348	FOLR1	Likely benign	191657981	RCV000868606\|RCV001704757\|RCV001821749;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900\|MedGen:CN169374	11	71906745	71906745	11:g.71906745C>T	ClinGen:CA6169193	CN169374 not specified;
NM_016729.3(FOLR1):c.451A>G (p.Thr151Ala)	2348	FOLR1	Uncertain significance	765019885	RCV000701721;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906749	71906749	11:g.71906749A>G	-	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.459G>A (p.Lys153=)	2348	FOLR1	Likely benign	1393300891	RCV002076938;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906757	71906757	71906757	-
NM_016729.3(FOLR1):c.474G>C (p.Lys158Asn)	2348	FOLR1	Uncertain significance	750638602	RCV001890953;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906772	71906772	71906772	-
NM_016729.3(FOLR1):c.493+2T>C	2348	FOLR1	Conflicting interpretations of pathogenicity	144637717	RCV000081793\|RCV000356764\|RCV000781973\|RCV002313796;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0	11	71906793	71906793	11:g.71906793T>C	ClinGen:CA285750,OMIM:136430.0004	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.493+8C>G	2348	FOLR1	Likely benign	1160452954	RCV001403277;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906799	71906799	71906799	-
NM_016729.3(FOLR1):c.493+12G>A	2348	FOLR1	Likely benign	190090266	RCV000439599\|RCV002059895;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906803	71906803	11:g.71906803G>A	ClinGen:CA6169201	CN169374 not specified;
NM_016729.3(FOLR1):c.493+13G>C	2348	FOLR1	Likely benign	-1	RCV002824053;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906804	71906804	NC_000011.9:g.71906804G>C	-
NM_016729.3(FOLR1):c.493+15G>C	2348	FOLR1	Likely benign	-1	RCV002996035;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906806	71906806	NC_000011.9:g.71906806G>C	-
NM_016729.3(FOLR1):c.493+18C>A	2348	FOLR1	Likely benign	1174508582	RCV002153297;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906809	71906809	71906809	-
NM_016729.3(FOLR1):c.493+19A>G	2348	FOLR1	Likely benign	927144753	RCV002131175;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906810	71906810	71906810	-
NM_016729.3(FOLR1):c.494-3C>T	2348	FOLR1	Uncertain significance	-1	RCV002751611;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906938	71906938	NC_000011.9:g.71906938C>T	-
NM_016729.3(FOLR1):c.503A>G (p.Lys168Arg)	2348	FOLR1	Uncertain significance	1591246700	RCV000803631;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906950	71906950	11:g.71906950A>G	-
NM_016729.3(FOLR1):c.503A>T (p.Lys168Met)	2348	FOLR1	Uncertain significance	-1	RCV002923412;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906950	71906950	NC_000011.9:g.71906950A>T	-
NM_016729.3(FOLR1):c.506G>A (p.Cys169Tyr)	2348	FOLR1	Uncertain significance	-1	RCV003037416;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906953	71906953	NC_000011.9:g.71906953G>A	-
NM_016729.3(FOLR1):c.507C>T (p.Cys169=)	2348	FOLR1	Conflicting interpretations of pathogenicity	398124307	RCV000081794\|RCV001453274;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906954	71906954	11:g.71906954C>T	ClinGen:CA223249	CN169374 not specified;
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)	2348	FOLR1	Conflicting interpretations of pathogenicity	139633601	RCV000725204\|RCV001087564\|RCV001818451\|RCV002314716;	N	MedGen:C3661900\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	11	71906955	71906955	NC_000011.9:g.71906955G>A	ClinGen:CA314559	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.508G>T (p.Ala170Ser)	2348	FOLR1	Uncertain significance	139633601	RCV001229808;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906955	71906955	11:g.71906955G>T	-
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)	2348	FOLR1	Conflicting interpretations of pathogenicity	564331848	RCV000310900\|RCV000724806\|RCV002336439;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	71906957	71906957	11:g.71906957A>G	ClinGen:CA246191	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.521C>A (p.Ala174Asp)	2348	FOLR1	Uncertain significance	1948225780	RCV001317130;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906968	71906968	71906968	-
NM_016729.3(FOLR1):c.522C>T (p.Ala174=)	2348	FOLR1	Likely benign	2135389042	RCV002147040;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906969	71906969	71906969	-
NM_016729.3(FOLR1):c.534C>T (p.Phe178=)	2348	FOLR1	Likely benign	1948225989	RCV001419906;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71906981	71906981	71906981	-
NM_016729.3(FOLR1):c.564G>A (p.Leu188=)	2348	FOLR1	Likely benign	774348178	RCV001427391;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907011	71907011	71907011	-
NM_016729.3(FOLR1):c.570T>C (p.Asn190=)	2348	FOLR1	Likely benign	1948226632	RCV002199885;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907017	71907017	71907017	-
NM_016729.3(FOLR1):c.573A>T (p.Glu191Asp)	2348	FOLR1	Uncertain significance	200414084	RCV001349725;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907020	71907020	71907020	-
NM_016729.3(FOLR1):c.585C>T (p.His195=)	2348	FOLR1	Likely benign	-1	RCV002801426;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907032	71907032		-
NM_016729.3(FOLR1):c.588C>T (p.Ser196=)	2348	FOLR1	Conflicting interpretations of pathogenicity	755278391	RCV000367953\|RCV000442324\|RCV002317827;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	11	71907035	71907035	NC_000011.9:g.71907035C>T	ClinGen:CA6169235	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.590A>G (p.Tyr197Cys)	2348	FOLR1	Uncertain significance	1165021874	RCV001207127;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907037	71907037	11:g.71907037A>G	-
NM_016729.3(FOLR1):c.597C>T (p.Val199=)	2348	FOLR1	Likely benign	1948227567	RCV002100051;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907044	71907044	71907044	-
NM_016729.3(FOLR1):c.601A>T (p.Asn201Tyr)	2348	FOLR1	Uncertain significance	1026331856	RCV001965167\|RCV002562151;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71907048	71907048	71907048	-
NM_016729.3(FOLR1):c.605A>G (p.Tyr202Cys)	2348	FOLR1	Uncertain significance	201099833	RCV001957252;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907052	71907052	71907052	-
NM_016729.3(FOLR1):c.611G>A (p.Arg204Gln)	2348	FOLR1	Uncertain significance	377725668	RCV001041246;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907058	71907058	11:g.71907058G>A	-
NM_016729.3(FOLR1):c.614G>A (p.Gly205Glu)	2348	FOLR1	Uncertain significance	985046746	RCV001209037;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907061	71907061	11:g.71907061G>A	-
NM_016729.3(FOLR1):c.621C>T (p.Gly207=)	2348	FOLR1	Likely benign	-1	RCV002834265;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907068	71907068		-
NM_016729.3(FOLR1):c.623G>A (p.Arg208His)	2348	FOLR1	Uncertain significance	145250531	RCV000697504;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907070	71907070	NC_000011.9:g.71907070G>A	-	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.636G>A (p.Met212Ile)	2348	FOLR1	Uncertain significance	1948228556	RCV001298325;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907083	71907083	71907083	-
NM_016729.3(FOLR1):c.642C>T (p.Phe214=)	2348	FOLR1	Likely benign	868478657	RCV000557617;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907089	71907089	NC_000011.9:g.71907089C>T	ClinGen:CA224405734	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.643G>A (p.Asp215Asn)	2348	FOLR1	Uncertain significance	-1	RCV002635012;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907090	71907090	NC_000011.9:g.71907090G>A	-
NM_016729.3(FOLR1):c.646C>T (p.Pro216Ser)	2348	FOLR1	Uncertain significance	-1	RCV003100619;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907093	71907093	NC_000011.9:g.71907093C>T	-
NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu)	2348	FOLR1	Uncertain significance	-1	RCV001346644;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907094	71907095	71907094	-
NM_016729.3(FOLR1):c.653A>G (p.Gln218Arg)	2348	FOLR1	Uncertain significance	1948229149	RCV001346385;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907100	71907100	71907100	-
NM_016729.3(FOLR1):c.665A>G (p.Asn222Ser)	2348	FOLR1	Uncertain significance	745483690	RCV001874752;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907112	71907112	71907112	-
NM_016729.3(FOLR1):c.667G>A (p.Glu223Lys)	2348	FOLR1	Uncertain significance	1565365932	RCV000701256;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907114	71907114	NC_000011.9:g.71907114G>A	-	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.670G>A (p.Glu224Lys)	2348	FOLR1	Uncertain significance	779884094	RCV001881787;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907117	71907117	71907117	-
NM_016729.3(FOLR1):c.676G>A (p.Ala226Thr)	2348	FOLR1	Uncertain significance	1158285428	RCV001306289;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907123	71907123	71907123	-
NM_016729.3(FOLR1):c.677C>T (p.Ala226Val)	2348	FOLR1	Uncertain significance	371399726	RCV001234773\|RCV001585674\|RCV002317966;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	11	71907124	71907124	NC_000011.9:g.71907124C>T	-
NM_016729.3(FOLR1):c.678G>A (p.Ala226=)	2348	FOLR1	Conflicting interpretations of pathogenicity	531930335	RCV001113186;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907125	71907125	11:g.71907125G>A	-
NM_016729.3(FOLR1):c.682T>C (p.Phe228Leu)	2348	FOLR1	Uncertain significance	774152850	RCV001224568;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907129	71907129	11:g.71907129T>C	-
NM_016729.3(FOLR1):c.685T>C (p.Tyr229His)	2348	FOLR1	Uncertain significance	2135389283	RCV001971237;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907132	71907132	71907132	-
NM_016729.3(FOLR1):c.691G>A (p.Ala231Thr)	2348	FOLR1	Uncertain significance	-1	RCV002706379;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907138	71907138	NC_000011.9:g.71907138G>A	-
NM_016729.3(FOLR1):c.692C>T (p.Ala231Val)	2348	FOLR1	Uncertain significance	1555069289	RCV000534074;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907139	71907139	11:g.71907139C>T	ClinGen:CA381735074	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.704G>A (p.Gly235Glu)	2348	FOLR1	Uncertain significance	1565365988	RCV000807414;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907151	71907151	11:g.71907151G>A	-
NM_016729.3(FOLR1):c.713_719dup (p.Ala241fs)	2348	FOLR1	Uncertain significance	1948231142	RCV001206040;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907153	71907154	11:g.71907153_71907154insCTGGGCC	-
NM_016729.3(FOLR1):c.714C>T (p.Pro238=)	2348	FOLR1	Likely benign	1057520942	RCV000434637\|RCV001416671;	N	MedGen:CN169374\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907161	71907161	11:g.71907161C>T	ClinGen:CA16607008	CN169374 not specified;
NM_016729.3(FOLR1):c.715T>C (p.Trp239Arg)	2348	FOLR1	Uncertain significance	-1	RCV003023515;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907162	71907162	NC_000011.9:g.71907162T>C	-
NM_016729.3(FOLR1):c.719C>T (p.Ala240Val)	2348	FOLR1	Uncertain significance	147155003	RCV000647363\|RCV000724733\|RCV002372099;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	11	71907166	71907166	11:g.71907166C>T	ClinGen:CA246187	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)	2348	FOLR1	Uncertain significance	796052445	RCV000187424\|RCV000647364;	N	MedGen:CN517202\|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907171	71907171	NC_000011.9:g.71907171T>A	ClinGen:CA314556	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.726G>A (p.Trp242Ter)	2348	FOLR1	Uncertain significance	752932113	RCV000551259;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907173	71907173	NC_000011.9:g.71907173G>A	ClinGen:CA381735327	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.731_749dup (p.Leu250_Met251insProAlaTer)	2348	FOLR1	Uncertain significance	2135389378	RCV001890167;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907176	71907177	71907176	-
NM_016729.3(FOLR1):c.735G>T (p.Leu245=)	2348	FOLR1	Likely benign	1174196971	RCV001408811;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907182	71907182	71907182	-
NM_016729.3(FOLR1):c.744G>T (p.Leu248=)	2348	FOLR1	Likely benign	-1	RCV003035812;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907191	71907191		-
NM_016729.3(FOLR1):c.749T>C (p.Leu250Pro)	2348	FOLR1	Uncertain significance	1565366051	RCV001370274\|RCV002550100;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382\|MeSH:D030342,MedGen:C0950123	11	71907196	71907196	71907196	-
NM_016729.3(FOLR1):c.750A>G (p.Leu250=)	2348	FOLR1	Likely benign	374262573	RCV001392286;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907197	71907197	11:g.71907197A>G	-
NM_016729.3(FOLR1):c.750A>C (p.Leu250=)	2348	FOLR1	Likely benign	-1	RCV002598443;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907197	71907197		-
NM_016729.3(FOLR1):c.758T>C (p.Leu253Pro)	2348	FOLR1	Uncertain significance	-1	RCV003043467;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907205	71907205	NC_000011.9:g.71907205T>C	-
NM_016729.3(FOLR1):c.26_42delinsG	2348	FOLR1	Uncertain significance	886048643	RCV000390429;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907247	71907263	NC_000011.9:g.71907247_71907263delinsG	ClinGen:CA10639363	C2751584 613068 Cerebral folate deficiency;
NM_016729.3(FOLR1):c.*122A>G	2348	FOLR1	Uncertain significance	886048644	RCV000309889;	N	MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068, Orphanet:217382	11	71907343	71907343	NC_000011.9:g.71907343A>G	ClinGen:CA10640114	C2751584 613068 Cerebral folate deficiency;

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