Folr1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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277 records found for search term Folr1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
9684485	CV167451	single nucleotide variant	NM_000802.3(FOLR1):c.-20G>A	Gastrointestinal stromal tumor [RCV000144917]\|not provided [RCV001618293]	benign\|uncertain significance	11	72189920	72189920	Human	5	name
9684485	CV167451	single nucleotide variant	NM_000802.3(FOLR1):c.-20G>A	Gastrointestinal stromal tumor [RCV000144917]\|not provided [RCV001618293]	benign\|uncertain significance	11	72189920	72189921	Human	5	name
11614719	CV329212	single nucleotide variant	NM_016729.3(FOLR1):c.-14C>T	Cerebral folate transport deficiency [RCV000279389]\|not provided [RCV001718622]	likely benign\|uncertain significance	11	72192160	72192160	Human	1	name
13539406	CV504019	single nucleotide variant	NM_016725.3(FOLR1):c.-30G>A	not specified [RCV000613231]	likely benign	11	72189738	72189738	Human		name
28911371	CV868780	single nucleotide variant	NM_016725.3(FOLR1):c.-27G>A	Cerebral folate transport deficiency [RCV001110438]	uncertain significance	11	72189741	72189741	Human	1	name
11663623	CV315126	single nucleotide variant	NM_016725.2(FOLR1):c.-122C>G	Cerebral folate transport deficiency [RCV000397874]	uncertain significance	11	72189646	72189646	Human	1	name
11653232	CV329241	single nucleotide variant	NM_016729.3(FOLR1):c.*122A>G	Cerebral folate transport deficiency [RCV000309889]	uncertain significance	11	72196299	72196299	Human	1	name
12833695	CV372425	single nucleotide variant	NM_016725.3(FOLR1):c.-9+9C>T	not specified [RCV000418988]	likely benign	11	72189768	72189768	Human		name
126734243	CV1000754	single nucleotide variant	NM_016729.3(FOLR1):c.494-2A>G	not provided [RCV001311263]	likely pathogenic	11	72195895	72195895	Human		name
8642663	CV101647	single nucleotide variant	NM_016729.3(FOLR1):c.493+2T>C	Cerebral folate transport deficiency [RCV000356764]\|FOLR1-related disorder [RCV003925073]\|Inborn genetic diseases [RCV002313796]\|Seizure [RCV000781973]\|not provided [RCV000081793]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195749	72195749	Human	4	name , trait , alternate_id
127255651	CV1056052	single nucleotide variant	NM_016729.3(FOLR1):c.358-2A>G	Cerebral folate transport deficiency [RCV001379409]\|not provided [RCV001565728]	likely pathogenic	11	72195610	72195610	Human	1	name
127264424	CV1078799	single nucleotide variant	NM_016729.3(FOLR1):c.493+8C>G	Cerebral folate transport deficiency [RCV001403277]	likely benign	11	72195755	72195755	Human	1	name
151781040	CV1468813	single nucleotide variant	NM_016729.3(FOLR1):c.169-7C>G	Cerebral folate transport deficiency [RCV002026261]	likely benign\|uncertain significance	11	72195264	72195264	Human	1	name
152128565	CV1637325	single nucleotide variant	NM_016729.3(FOLR1):c.169-7C>T	Cerebral folate transport deficiency [RCV002217750]	likely benign	11	72195264	72195264	Human	1	name
155938281	CV2046055	single nucleotide variant	NM_016729.3(FOLR1):c.494-3C>T	Cerebral folate transport deficiency [RCV002751611]	uncertain significance	11	72195894	72195894	Human	1	name
11638860	CV268932	single nucleotide variant	NM_016729.3(FOLR1):c.357+8T>A	Cerebral folate transport deficiency [RCV001498772]\|not provided [RCV000725511]\|not specified [RCV000311284]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195467	72195467	Human	1	name
405059712	CV3016453	single nucleotide variant	NM_016729.3(FOLR1):c.169-5T>C	Cerebral folate transport deficiency [RCV003632105]	likely benign	11	72195266	72195266	Human	1	name
405234980	CV3155628	deletion	NM_016729.3(FOLR1):c.494-7del	Cerebral folate transport deficiency [RCV003853606]	likely benign	11	72195890	72195890	Human	1	name
11658648	CV321930	single nucleotide variant	NM_016729.3(FOLR1):c.168+3G>A	Cerebral folate transport deficiency [RCV000350846]	uncertain significance	11	72192344	72192344	Human	1	name
12742665	CV359909	single nucleotide variant	NM_016729.3(FOLR1):c.357+1G>A	not provided [RCV000414186]	likely pathogenic	11	72195460	72195460	Human		name
597909001	CV3853815	single nucleotide variant	NM_016729.3(FOLR1):c.494-6C>T	Cerebral folate transport deficiency [RCV005203298]	likely benign	11	72195891	72195891	Human	1	name
13484768	CV461451	single nucleotide variant	NM_016729.3(FOLR1):c.169-8C>A	Cerebral folate transport deficiency [RCV000552918]	likely benign	11	72195263	72195263	Human	1	name
13468606	CV461985	deletion	NM_016729.3(FOLR1):c.168+8del	Cerebral folate transport deficiency [RCV000544608]	likely benign	11	72192349	72192349	Human	1	name
13538924	CV503775	single nucleotide variant	NM_016729.3(FOLR1):c.168+9G>A	not specified [RCV000612557]	likely benign	11	72192350	72192350	Human		name
15163451	CV759950	single nucleotide variant	NM_016729.3(FOLR1):c.494-4A>G	not provided [RCV000926131]	likely benign	11	72195893	72195893	Human		name
26899173	CV852633	single nucleotide variant	NM_016729.3(FOLR1):c.357+6C>A	Cerebral folate transport deficiency [RCV001035153]	uncertain significance	11	72195465	72195465	Human	1	name
38596444	CV964037	single nucleotide variant	NM_016729.3(FOLR1):c.493+7G>T	Cerebral folate transport deficiency [RCV005094201]\|Intellectual disability [RCV001251756]	likely benign	11	72195754	72195754	Human	3	name
150501519	CV1224206	single nucleotide variant	NM_000802.3(FOLR1):c.-9+603C>T	not provided [RCV001620847]	benign	11	72190534	72190534	Human		name
150516951	CV1227390	single nucleotide variant	NM_000802.3(FOLR1):c.-9+870A>C	not provided [RCV001639491]	benign	11	72190801	72190801	Human		name
150511032	CV1242583	single nucleotide variant	NM_000802.3(FOLR1):c.-9+153G>A	not provided [RCV001660935]	benign	11	72190084	72190084	Human		name
150509444	CV1247308	single nucleotide variant	NM_016729.3(FOLR1):c.169-71T>C	not provided [RCV001659335]	benign	11	72195200	72195200	Human		name
150500583	CV1283691	single nucleotide variant	NM_000802.3(FOLR1):c.-9+695C>T	not provided [RCV001718423]	benign	11	72190626	72190626	Human		name
150503843	CV1285838	single nucleotide variant	NM_000802.3(FOLR1):c.-9+516G>A	not provided [RCV001719261]	benign	11	72190447	72190447	Human		name
152112945	CV1520346	single nucleotide variant	NM_016729.3(FOLR1):c.493+18C>A	Cerebral folate transport deficiency [RCV002153297]	likely benign	11	72195765	72195765	Human	1	name
152083844	CV1525398	single nucleotide variant	NM_016729.3(FOLR1):c.493+19A>G	Cerebral folate transport deficiency [RCV002131175]	likely benign	11	72195766	72195766	Human	1	name
152054663	CV1610024	single nucleotide variant	NM_016729.3(FOLR1):c.168+11G>A	Cerebral folate transport deficiency [RCV002167283]	likely benign	11	72192352	72192352	Human	1	name
156320514	CV1873030	single nucleotide variant	NM_016729.3(FOLR1):c.358-16T>C	Cerebral folate transport deficiency [RCV003063030]	likely benign	11	72195596	72195596	Human	1	name
156152397	CV1875197	single nucleotide variant	NM_016729.3(FOLR1):c.169-19T>C	Cerebral folate transport deficiency [RCV003056581]	likely benign	11	72195252	72195252	Human	1	name
156242470	CV1981473	deletion	NM_016729.3(FOLR1):c.169-14del	Cerebral folate transport deficiency [RCV002645622]	likely benign	11	72195257	72195257	Human	1	name
156223919	CV1981474	single nucleotide variant	NM_016729.3(FOLR1):c.169-13T>G	Cerebral folate transport deficiency [RCV002626548]	likely benign	11	72195258	72195258	Human	1	name
156128755	CV2027685	single nucleotide variant	NM_016729.3(FOLR1):c.168+10G>C	Cerebral folate transport deficiency [RCV002740484]	likely benign	11	72192351	72192351	Human	1	name
156087226	CV2060608	single nucleotide variant	NM_016729.3(FOLR1):c.493+13G>C	Cerebral folate transport deficiency [RCV002824053]	likely benign	11	72195760	72195760	Human	1	name
155979696	CV2140301	single nucleotide variant	NM_016729.3(FOLR1):c.493+15G>C	Cerebral folate transport deficiency [RCV002996035]	likely benign	11	72195762	72195762	Human	1	name
155995007	CV2147893	single nucleotide variant	NM_016729.3(FOLR1):c.169-17T>C	Cerebral folate transport deficiency [RCV003017009]	likely benign	11	72195254	72195254	Human	1	name
156366560	CV2177086	single nucleotide variant	NM_016729.3(FOLR1):c.169-12T>C	Cerebral folate transport deficiency [RCV003049386]	likely benign	11	72195259	72195259	Human	1	name
156205799	CV2179301	single nucleotide variant	NM_016729.3(FOLR1):c.358-19T>C	Cerebral folate transport deficiency [RCV003024616]	likely benign	11	72195593	72195593	Human	1	name
405044701	CV2876914	single nucleotide variant	NM_016729.3(FOLR1):c.494-20G>A	Cerebral folate transport deficiency [RCV003518327]	likely benign	11	72195877	72195877	Human	1	name
405055472	CV2978281	single nucleotide variant	NM_016729.3(FOLR1):c.493+13G>A	Cerebral folate transport deficiency [RCV003631756]	likely benign	11	72195760	72195760	Human	1	name
12838191	CV371688	single nucleotide variant	NM_016729.3(FOLR1):c.358-18T>A	not specified [RCV000426509]	likely benign	11	72195594	72195594	Human		name
12841425	CV372679	single nucleotide variant	NM_016729.3(FOLR1):c.357+18C>A	Cerebral folate transport deficiency [RCV002063415]\|not specified [RCV000432559]	likely benign	11	72195477	72195477	Human	1	name
12845317	CV372682	single nucleotide variant	NM_016729.3(FOLR1):c.493+12G>A	Cerebral folate transport deficiency [RCV002059895]\|not specified [RCV000439599]	likely benign	11	72195759	72195759	Human	1	name
13540745	CV503441	single nucleotide variant	NM_016729.3(FOLR1):c.168+13G>A	not specified [RCV000615141]	likely benign	11	72192354	72192354	Human		name
13536514	CV504420	single nucleotide variant	NM_016729.3(FOLR1):c.493+20G>A	not specified [RCV000609108]	likely benign	11	72195767	72195767	Human		name
14724047	CV666022	single nucleotide variant	NM_016729.3(FOLR1):c.168+46G>C	not provided [RCV000832807]	benign	11	72192387	72192387	Human		name
14717479	CV666024	single nucleotide variant	NM_016729.3(FOLR1):c.169-94T>G	not provided [RCV000830078]	likely benign	11	72195177	72195177	Human		name
14723998	CV666177	single nucleotide variant	NM_016729.3(FOLR1):c.168+37G>T	not provided [RCV000832785]	likely benign	11	72192378	72192378	Human		name
14739693	CV666023	single nucleotide variant	NM_016729.3(FOLR1):c.169-186C>G	not provided [RCV000839989]	benign	11	72195085	72195085	Human		name
11662891	CV328012	indel	NM_016729.3(FOLR1):c.26_42delinsG	Cerebral folate transport deficiency [RCV000390429]	uncertain significance	11	72196203	72196219	Human		name
13538890	CV504419	single nucleotide variant	NM_016729.3(FOLR1):c.9G>A (p.Gln3=)	not specified [RCV000612502]	likely benign	11	72192182	72192182	Human		name
152078636	CV1557765	single nucleotide variant	NM_016729.3(FOLR1):c.18A>G (p.Thr6=)	Cerebral folate transport deficiency [RCV002170255]	likely benign	11	72192191	72192191	Human	1	name
151865144	CV1443116	single nucleotide variant	NM_016729.3(FOLR1):c.8A>G (p.Gln3Arg)	Cerebral folate transport deficiency [RCV002034961]	uncertain significance	11	72192181	72192181	Human	1	name
156055775	CV2102004	single nucleotide variant	NM_016729.3(FOLR1):c.42G>A (p.Val14=)	Cerebral folate transport deficiency [RCV002886321]	likely benign	11	72192215	72192215	Human	1	name
12846403	CV372428	single nucleotide variant	NM_016729.3(FOLR1):c.81A>C (p.Ala27=)	Cerebral folate transport deficiency [RCV000527102]\|not provided [RCV001718828]	likely benign	11	72192254	72192254	Human	1	name
12849293	CV372671	single nucleotide variant	NM_016729.3(FOLR1):c.1A>G (p.Met1Val)	not provided [RCV000427429]	likely pathogenic	11	72192174	72192174	Human		name
12839131	CV372677	single nucleotide variant	NM_016729.3(FOLR1):c.57A>G (p.Val19=)	Cerebral folate transport deficiency [RCV001111179]\|not specified [RCV000428251]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72192230	72192230	Human	1	name
15147482	CV768748	single nucleotide variant	NM_016729.3(FOLR1):c.54A>T (p.Val18=)	Cerebral folate transport deficiency [RCV000944930]	likely benign	11	72192227	72192227	Human	1	name
127235205	CV1078798	single nucleotide variant	NM_016729.3(FOLR1):c.138G>A (p.Lys46=)	Cerebral folate transport deficiency [RCV001391816]	likely benign	11	72192311	72192311	Human	1	name
127280020	CV1100523	single nucleotide variant	NM_016729.3(FOLR1):c.111C>T (p.Cys37=)	Cerebral folate transport deficiency [RCV001446165]\|not provided [RCV001598687]	likely benign	11	72192284	72192284	Human	1	name
127255695	CV1100524	single nucleotide variant	NM_016729.3(FOLR1):c.247A>C (p.Arg83=)	Cerebral folate transport deficiency [RCV001437506]	likely benign	11	72195349	72195349	Human	1	name
127301436	CV1121992	single nucleotide variant	NM_016729.3(FOLR1):c.162T>C (p.His54=)	Cerebral folate transport deficiency [RCV001461399]	likely benign	11	72192335	72192335	Human	1	name
127302623	CV1121993	single nucleotide variant	NM_016729.3(FOLR1):c.165G>A (p.Glu55=)	Cerebral folate transport deficiency [RCV001461690]	likely benign	11	72192338	72192338	Human	1	name
127325266	CV1121994	single nucleotide variant	NM_016729.3(FOLR1):c.171T>C (p.Cys57=)	Cerebral folate transport deficiency [RCV001468432]	likely benign	11	72195273	72195273	Human	1	name
151862431	CV1338691	single nucleotide variant	NM_016729.3(FOLR1):c.10C>T (p.Arg4Trp)	Cerebral folate transport deficiency [RCV001997302]	uncertain significance	11	72192183	72192183	Human	1	name
152120121	CV1664930	single nucleotide variant	NM_016729.3(FOLR1):c.282T>C (p.Pro94=)	Cerebral folate transport deficiency [RCV002117744]	likely benign	11	72195384	72195384	Human	1	name
9692939	CV177716	single nucleotide variant	NM_016729.3(FOLR1):c.261C>T (p.Asn87=)	Cerebral folate transport deficiency [RCV000397872]\|FOLR1-related disorder [RCV003937423]\|Inborn genetic diseases [RCV002433669]\|not provided [RCV000723781]\|not specified [RCV000153255]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195363	72195363	Human	2	name , trait , alternate_id
155685048	CV1850922	single nucleotide variant	NM_016729.3(FOLR1):c.22C>A (p.Gln8Lys)	Cerebral folate transport deficiency [RCV003101208]\|Inborn genetic diseases [RCV002457547]\|not provided [RCV003403826]	uncertain significance	11	72192195	72192195	Human	2	name
10050811	CV192477	single nucleotide variant	NM_016729.3(FOLR1):c.157T>C (p.Leu53=)	Cerebral folate transport deficiency [RCV001085778]\|Inborn genetic diseases [RCV002312715]\|not provided [RCV000723888]\|not specified [RCV000187413]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72192330	72192330	Human	2	name
156017581	CV2019147	single nucleotide variant	NM_016729.3(FOLR1):c.222C>A (p.Ala74=)	Cerebral folate transport deficiency [RCV002690841]	likely benign	11	72195324	72195324	Human	1	name
10395988	CV202609	single nucleotide variant	NM_016729.3(FOLR1):c.13A>G (p.Met5Val)	Cerebral folate transport deficiency [RCV000793516]\|Inborn genetic diseases [RCV002390491]\|not provided [RCV000723894]	likely benign\|uncertain significance	11	72192186	72192186	Human	2	name
156291570	CV2182995	single nucleotide variant	NM_016729.3(FOLR1):c.141A>G (p.Pro47=)	Cerebral folate transport deficiency [RCV003027699]	likely benign	11	72192314	72192314	Human	1	name
405055498	CV2988264	single nucleotide variant	NM_016729.3(FOLR1):c.144C>A (p.Gly48=)	Cerebral folate transport deficiency [RCV003631758]	likely benign	11	72192317	72192317	Human	1	name
405064314	CV3066985	single nucleotide variant	NM_016729.3(FOLR1):c.198T>C (p.Cys66=)	Cerebral folate transport deficiency [RCV003632592]	likely benign	11	72195300	72195300	Human	1	name
12833636	CV372430	single nucleotide variant	NM_016729.3(FOLR1):c.117C>T (p.Asn39=)	Cerebral folate transport deficiency [RCV000863627]\|Inborn genetic diseases [RCV002318406]\|not provided [RCV001720056]	likely benign	11	72192290	72192290	Human	2	name
12841525	CV372432	single nucleotide variant	NM_016729.3(FOLR1):c.192C>T (p.Ala64=)	Cerebral folate transport deficiency [RCV002522420]\|not specified [RCV000432736]	likely benign	11	72195294	72195294	Human	1	name
12845467	CV372433	single nucleotide variant	NM_016729.3(FOLR1):c.237C>T (p.Ser79=)	Cerebral folate transport deficiency [RCV000868256]\|Inborn genetic diseases [RCV002451028]\|not specified [RCV000439862]	likely benign	11	72195339	72195339	Human	2	name
598158296	CV3973663	single nucleotide variant	NM_016729.3(FOLR1):c.11G>T (p.Arg4Leu)	Inborn genetic diseases [RCV005327980]	likely benign	11	72192184	72192184	Human	1	name
12905481	CV413322	single nucleotide variant	NM_016729.3(FOLR1):c.11G>A (p.Arg4Gln)	Cerebral folate transport deficiency [RCV002526999]\|Inborn genetic diseases [RCV004023228]\|not provided [RCV000487548]	likely benign\|uncertain significance	11	72192184	72192184	Human	2	name
13517135	CV492803	deletion	NM_016729.3(FOLR1):c.34del (p.Leu12fs)	not provided [RCV000596318]	pathogenic	11	72192206	72192206	Human		name
15113848	CV768749	single nucleotide variant	NM_016729.3(FOLR1):c.147C>T (p.Pro49=)	Cerebral folate transport deficiency [RCV000939205]	likely benign	11	72192320	72192320	Human	1	name
38471773	CV935773	single nucleotide variant	NM_016729.3(FOLR1):c.17C>T (p.Thr6Ile)	Cerebral folate transport deficiency [RCV001212045]	uncertain significance	11	72192190	72192190	Human	1	name
8642664	CV101648	single nucleotide variant	NM_016729.3(FOLR1):c.507C>T (p.Cys169=)	Cerebral folate transport deficiency [RCV001453274]\|not provided [RCV000081794]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195910	72195910	Human	1	name
126761807	CV1030504	single nucleotide variant	NM_016729.3(FOLR1):c.45G>T (p.Trp15Cys)	Cerebral folate transport deficiency [RCV001340794]\|Inborn genetic diseases [RCV002547402]\|not provided [RCV001843585]\|not specified [RCV001820039]	uncertain significance	11	72192218	72192218	Human	2	name
126741290	CV1030505	single nucleotide variant	NM_016729.3(FOLR1):c.92C>T (p.Thr31Ile)	Cerebral folate transport deficiency [RCV001350857]	uncertain significance	11	72192265	72192265	Human	1	name
126920806	CV1047499	single nucleotide variant	NM_016729.3(FOLR1):c.68A>G (p.Gln23Arg)	Cerebral folate transport deficiency [RCV001374024]	uncertain significance	11	72192241	72192241	Human	1	name
127259764	CV1078800	single nucleotide variant	NM_016729.3(FOLR1):c.534C>T (p.Phe178=)	Cerebral folate transport deficiency [RCV001419906]	likely benign	11	72195937	72195937	Human	1	name
127278935	CV1078801	single nucleotide variant	NM_016729.3(FOLR1):c.735G>T (p.Leu245=)	Cerebral folate transport deficiency [RCV001408811]	likely benign	11	72196138	72196138	Human	1	name
127258624	CV1100525	single nucleotide variant	NM_016729.3(FOLR1):c.564G>A (p.Leu188=)	Cerebral folate transport deficiency [RCV001427391]\|FOLR1-related disorder [RCV004731148]	likely benign	11	72195967	72195967	Human	1	name , trait , alternate_id
127334066	CV1121995	single nucleotide variant	NM_016729.3(FOLR1):c.309C>T (p.Asp103=)	Cerebral folate transport deficiency [RCV001473365]	likely benign	11	72195411	72195411	Human	1	name
127334527	CV1142844	single nucleotide variant	NM_016729.3(FOLR1):c.435T>C (p.Asp145=)	Cerebral folate transport deficiency [RCV001490875]	likely benign	11	72195689	72195689	Human	1	name
151758337	CV1391673	single nucleotide variant	NM_016729.3(FOLR1):c.312C>G (p.Thr104=)	Cerebral folate transport deficiency [RCV002043979]	likely benign\|uncertain significance	11	72195414	72195414	Human	1	name
8691131	CV141090	single nucleotide variant	NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)	Cerebral folate transport deficiency [RCV000647366]\|Inborn genetic diseases [RCV002316365]\|not specified [RCV000125140]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	72195423	72195423	Human	2	name
151825503	CV1418269	single nucleotide variant	NM_016729.3(FOLR1):c.59G>A (p.Gly20Glu)	Cerebral folate transport deficiency [RCV001919983]	uncertain significance	11	72192232	72192232	Human	1	name
151868321	CV1514355	single nucleotide variant	NM_016729.3(FOLR1):c.92C>G (p.Thr31Ser)	Cerebral folate transport deficiency [RCV001998006]	uncertain significance	11	72192265	72192265	Human	1	name
152135450	CV1528305	single nucleotide variant	NM_016729.3(FOLR1):c.597C>T (p.Val199=)	Cerebral folate transport deficiency [RCV002100051]	likely benign	11	72196000	72196000	Human	1	name
152129297	CV1550664	single nucleotide variant	NM_016729.3(FOLR1):c.387A>G (p.Val129=)	Cerebral folate transport deficiency [RCV002155309]	likely benign	11	72195641	72195641	Human	1	name
152135486	CV1594987	single nucleotide variant	NM_016729.3(FOLR1):c.570T>C (p.Asn190=)	Cerebral folate transport deficiency [RCV002199885]	likely benign	11	72195973	72195973	Human	1	name
152085590	CV1617333	single nucleotide variant	NM_016729.3(FOLR1):c.459G>A (p.Lys153=)	Cerebral folate transport deficiency [RCV002076938]	likely benign	11	72195713	72195713	Human	1	name
152063235	CV1644677	single nucleotide variant	NM_016729.3(FOLR1):c.522C>T (p.Ala174=)	Cerebral folate transport deficiency [RCV002147040]	likely benign	11	72195925	72195925	Human	1	name
155724547	CV1804702	single nucleotide variant	NM_016729.3(FOLR1):c.654G>A (p.Gln218=)	Cerebral folate transport deficiency [RCV003631248]\|Inborn genetic diseases [RCV002364358]	likely benign	11	72196057	72196057	Human	2	name
155712803	CV1808023	single nucleotide variant	NM_016729.3(FOLR1):c.645C>T (p.Asp215=)	Inborn genetic diseases [RCV002361884]	likely benign	11	72196048	72196048	Human	1	name
155740689	CV1809589	single nucleotide variant	NM_016729.3(FOLR1):c.501C>T (p.Asn167=)	Inborn genetic diseases [RCV002343140]	likely benign	11	72195904	72195904	Human	1	name
10052560	CV194992	single nucleotide variant	NM_016729.3(FOLR1):c.510A>G (p.Ala170=)	Cerebral folate transport deficiency [RCV000310900]\|Inborn genetic diseases [RCV002336439]\|not provided [RCV000724806]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195913	72195913	Human	2	name
156282541	CV1968010	single nucleotide variant	NM_016729.3(FOLR1):c.750A>C (p.Leu250=)	Cerebral folate transport deficiency [RCV002598443]	likely benign	11	72196153	72196153	Human	1	name
156362375	CV2016771	single nucleotide variant	NM_016729.3(FOLR1):c.79G>T (p.Ala27Ser)	Cerebral folate transport deficiency [RCV002720952]	uncertain significance	11	72192252	72192252	Human	1	name
10397467	CV202613	single nucleotide variant	NM_016729.3(FOLR1):c.489T>C (p.Thr163=)	not specified [RCV000187414]	benign	11	72195743	72195743	Human		name
156155084	CV2049265	single nucleotide variant	NM_016729.3(FOLR1):c.585C>T (p.His195=)	Cerebral folate transport deficiency [RCV002801426]	likely benign	11	72195988	72195988	Human	1	name
156313584	CV2063595	single nucleotide variant	NM_016729.3(FOLR1):c.621C>T (p.Gly207=)	Cerebral folate transport deficiency [RCV002834265]	likely benign	11	72196024	72196024	Human	1	name
156130791	CV2152005	single nucleotide variant	NM_016729.3(FOLR1):c.53T>C (p.Val18Ala)	Cerebral folate transport deficiency [RCV003003350]	uncertain significance	11	72192226	72192226	Human	1	name
156022752	CV2184693	single nucleotide variant	NM_016729.3(FOLR1):c.744G>T (p.Leu248=)	Cerebral folate transport deficiency [RCV003035812]	likely benign	11	72196147	72196147	Human	1	name
156138566	CV2186719	single nucleotide variant	NM_016729.3(FOLR1):c.441C>T (p.Arg147=)	Cerebral folate transport deficiency [RCV003056094]	likely benign	11	72195695	72195695	Human	1	name
329846508	CV2534080	deletion	NM_016729.3(FOLR1):c.227del (p.Lys76fs)	not provided [RCV003228286]	pathogenic	11	72195328	72195328	Human		name
405042164	CV2870510	single nucleotide variant	NM_016729.3(FOLR1):c.531T>C (p.Pro177=)	Cerebral folate transport deficiency [RCV003518098]	likely benign	11	72195934	72195934	Human	1	name
405038958	CV2927442	single nucleotide variant	NM_016729.3(FOLR1):c.337T>C (p.Leu113=)	Cerebral folate transport deficiency [RCV003517810]\|FOLR1-related disorder [RCV003984394]	likely benign	11	72195439	72195439	Human	1	name , trait , alternate_id
405054262	CV2950169	single nucleotide variant	NM_016729.3(FOLR1):c.519T>C (p.Ala173=)	Cerebral folate transport deficiency [RCV003631477]	likely benign	11	72195922	72195922	Human	1	name
405055082	CV2980531	single nucleotide variant	NM_016729.3(FOLR1):c.765G>A (p.Leu255=)	Cerebral folate transport deficiency [RCV003631718]	likely benign	11	72196168	72196168	Human	1	name
11609402	CV315127	single nucleotide variant	NM_016729.3(FOLR1):c.588C>T (p.Ser196=)	Cerebral folate transport deficiency [RCV000367953]\|Inborn genetic diseases [RCV002317827]\|not specified [RCV000442324]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195991	72195991	Human	2	name
405746370	CV3253814	single nucleotide variant	NM_016729.3(FOLR1):c.80C>G (p.Ala27Gly)	Inborn genetic diseases [RCV004392078]	uncertain significance	11	72192253	72192253	Human	1	name
12848398	CV372436	single nucleotide variant	NM_016729.3(FOLR1):c.396G>A (p.Val132=)	Cerebral folate transport deficiency [RCV000862373]\|Inborn genetic diseases [RCV002318385]\|not specified [RCV000445209]	benign\|likely benign	11	72195650	72195650	Human	2	name
12842559	CV374300	single nucleotide variant	NM_016729.3(FOLR1):c.714C>T (p.Pro238=)	Cerebral folate transport deficiency [RCV001416671]\|not specified [RCV000434637]	likely benign	11	72196117	72196117	Human	1	name
597912271	CV3745571	single nucleotide variant	NM_016729.3(FOLR1):c.375C>T (p.Arg125=)	Cerebral folate transport deficiency [RCV005073572]	likely benign	11	72195629	72195629	Human	1	name
597905391	CV3772914	single nucleotide variant	NM_016729.3(FOLR1):c.723C>G (p.Ala241=)	Cerebral folate transport deficiency [RCV005112979]	likely benign	11	72196126	72196126	Human	1	name
597969960	CV3791620	single nucleotide variant	NM_016729.3(FOLR1):c.453C>G (p.Thr151=)	Cerebral folate transport deficiency [RCV005141437]	likely benign	11	72195707	72195707	Human	1	name
597948618	CV3801204	single nucleotide variant	NM_016729.3(FOLR1):c.388C>T (p.Leu130=)	Cerebral folate transport deficiency [RCV005135384]	likely benign	11	72195642	72195642	Human	1	name
597933183	CV3810670	single nucleotide variant	NM_016729.3(FOLR1):c.420G>A (p.Glu140=)	Cerebral folate transport deficiency [RCV005157379]	likely benign	11	72195674	72195674	Human	1	name
13477133	CV444885	single nucleotide variant	NM_016729.3(FOLR1):c.59G>C (p.Gly20Ala)	Cerebral folate transport deficiency [RCV001202649]\|not provided [RCV000520315]	uncertain significance	11	72192232	72192232	Human	1	name
13492680	CV461669	single nucleotide variant	NM_016729.3(FOLR1):c.642C>T (p.Phe214=)	Cerebral folate transport deficiency [RCV000557617]\|not provided [RCV004705660]	likely benign	11	72196045	72196045	Human	1	name
13493826	CV461986	single nucleotide variant	NM_016729.3(FOLR1):c.393C>T (p.Asn131=)	Cerebral folate transport deficiency [RCV001445646]\|FOLR1-related disorder [RCV003942825]	likely benign	11	72195647	72195647	Human	1	name , trait , alternate_id
13540394	CV503443	single nucleotide variant	NM_016729.3(FOLR1):c.333C>T (p.Pro111=)	Cerebral folate transport deficiency [RCV002528631]\|not provided [RCV000614640]	likely benign	11	72195435	72195435	Human	1	name
13528133	CV503782	single nucleotide variant	NM_016729.3(FOLR1):c.447C>T (p.Ser149=)	Cerebral folate transport deficiency [RCV000868606]\|FOLR1-related disorder [RCV003917954]\|not provided [RCV001704757]\|not specified [RCV001821749]	likely benign	11	72195701	72195701	Human	1	name , trait , alternate_id
13828413	CV579756	single nucleotide variant	NM_016729.3(FOLR1):c.65C>T (p.Ala22Val)	Cerebral folate transport deficiency [RCV003106031]\|Inborn genetic diseases [RCV002312427]	uncertain significance	11	72192238	72192238	Human	2	name
14731095	CV640441	single nucleotide variant	NM_016729.3(FOLR1):c.71C>T (p.Thr24Ile)	Cerebral folate transport deficiency [RCV000817680]\|Inborn genetic diseases [RCV002535454]	uncertain significance	11	72192244	72192244	Human	2	name
15133938	CV768750	single nucleotide variant	NM_016729.3(FOLR1):c.750A>G (p.Leu250=)	Cerebral folate transport deficiency [RCV001392286]	likely benign	11	72196153	72196153	Human	1	name
28869613	CV868781	single nucleotide variant	NM_016729.3(FOLR1):c.678G>A (p.Ala226=)	Cerebral folate transport deficiency [RCV001113186]	conflicting interpretations of pathogenicity\|uncertain significance	11	72196081	72196081	Human	1	name
150417381	CV1198252	single nucleotide variant	NM_016729.3(FOLR1):c.124C>A (p.His42Asn)	not provided [RCV001576272]	uncertain significance	11	72192297	72192297	Human		name
150544254	CV1313226	single nucleotide variant	NM_016729.3(FOLR1):c.258G>A (p.Trp86Ter)	Cerebral folate transport deficiency [RCV001783304]	pathogenic	11	72195360	72195360	Human	1	name
151794087	CV1353937	single nucleotide variant	NM_016729.3(FOLR1):c.176C>A (p.Pro59His)	Cerebral folate transport deficiency [RCV001990345]	uncertain significance	11	72195278	72195278	Human	1	name
151785333	CV1374739	single nucleotide variant	NM_016729.3(FOLR1):c.156G>C (p.Lys52Asn)	Cerebral folate transport deficiency [RCV001875755]	uncertain significance	11	72192329	72192329	Human	1	name
151852731	CV1397484	single nucleotide variant	NM_016729.3(FOLR1):c.244T>C (p.Tyr82His)	Cerebral folate transport deficiency [RCV001958208]	uncertain significance	11	72195346	72195346	Human	1	name
151818874	CV1420899	single nucleotide variant	NM_016729.3(FOLR1):c.176C>G (p.Pro59Arg)	Cerebral folate transport deficiency [RCV002049590]	uncertain significance	11	72195278	72195278	Human	1	name
151873856	CV1430451	single nucleotide variant	NM_016729.3(FOLR1):c.163G>A (p.Glu55Lys)	Cerebral folate transport deficiency [RCV002036012]\|not provided [RCV002274247]	uncertain significance	11	72192336	72192336	Human	1	name
151737914	CV1458845	indel	NM_016729.3(FOLR1):c.357+3_357+4delinsTA	Cerebral folate transport deficiency [RCV002005516]	uncertain significance	11	72195462	72195463	Human		name
156365577	CV1908419	single nucleotide variant	NM_016729.3(FOLR1):c.112A>G (p.Met38Val)	Cerebral folate transport deficiency [RCV002582039]	uncertain significance	11	72192285	72192285	Human	1	name
10051585	CV193636	single nucleotide variant	NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)	Cerebral folate transport deficiency [RCV001084422]\|FOLR1-related disorder [RCV003977448]\|Inborn genetic diseases [RCV002426854]\|not provided [RCV000723981]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195317	72195317	Human	2	name , trait , alternate_id
10048536	CV193637	single nucleotide variant	NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)	Cerebral folate transport deficiency [RCV000545936]\|FOLR1-related disorder [RCV003937599]\|Inborn genetic diseases [RCV002317029]\|not provided [RCV000487848]\|not specified [RCV000177293]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195394	72195394	Human	2	name , trait , alternate_id
10395989	CV202610	single nucleotide variant	NM_016729.3(FOLR1):c.281C>G (p.Pro94Arg)	Cerebral folate transport deficiency [RCV001201542]\|Inborn genetic diseases [RCV002311265]\|not provided [RCV000187418]	uncertain significance	11	72195383	72195383	Human	2	name
156184003	CV2055538	single nucleotide variant	NM_016729.3(FOLR1):c.256T>G (p.Trp86Gly)	Cerebral folate transport deficiency [RCV002828396]	uncertain significance	11	72195358	72195358	Human	1	name
155919237	CV2073615	single nucleotide variant	NM_016729.3(FOLR1):c.291A>T (p.Lys97Asn)	Cerebral folate transport deficiency [RCV002838227]	uncertain significance	11	72195393	72195393	Human	1	name
401855021	CV2752719	single nucleotide variant	NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)	Cerebral folate transport deficiency [RCV003337773]	uncertain significance	11	72192321	72192321	Human	1	name
401961862	CV2844185	single nucleotide variant	NM_016729.3(FOLR1):c.256T>C (p.Trp86Arg)	not provided [RCV003482026]	uncertain significance	11	72195358	72195358	Human		name
407454777	CV3495345	single nucleotide variant	NM_016729.3(FOLR1):c.242T>G (p.Leu81Arg)	Cerebral folate transport deficiency [RCV004691655]	uncertain significance	11	72195344	72195344	Human	1	name
12741848	CV360936	single nucleotide variant	NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr)	Epileptic encephalopathy [RCV000415252]	likely pathogenic	11	72195389	72195389	Human	2	name
597915648	CV3789093	single nucleotide variant	NM_016729.3(FOLR1):c.200C>T (p.Ser67Phe)	Cerebral folate transport deficiency [RCV005129390]	uncertain significance	11	72195302	72195302	Human	1	name
597944381	CV3847871	single nucleotide variant	NM_016729.3(FOLR1):c.128A>T (p.His43Leu)	Cerebral folate transport deficiency [RCV005188600]	uncertain significance	11	72192301	72192301	Human	1	name
598223101	CV3892206	duplication	NM_016729.3(FOLR1):c.466dup (p.Trp156fs)	Cerebral folate transport deficiency [RCV005253545]	likely pathogenic	11	72195719	72195720	Human	1	name
598177183	CV4008254	single nucleotide variant	NM_016729.3(FOLR1):c.172C>T (p.Arg58Ter)	Cerebral folate transport deficiency [RCV005393770]	likely pathogenic	11	72195274	72195274	Human	1	name
12902486	CV408467	single nucleotide variant	NM_016729.3(FOLR1):c.103A>G (p.Asn35Asp)	Cerebral folate transport deficiency [RCV001088548]\|Inborn genetic diseases [RCV002395143]\|not provided [RCV000487220]\|not specified [RCV001821387]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72192276	72192276	Human	2	name
12912841	CV421887	single nucleotide variant	NM_016729.3(FOLR1):c.190G>T (p.Ala64Ser)	Cerebral folate transport deficiency [RCV001328968]\|not provided [RCV000493078]	uncertain significance	11	72195292	72195292	Human	1	name
13490558	CV461455	single nucleotide variant	NM_016729.3(FOLR1):c.257G>A (p.Trp86Ter)	Cerebral folate transport deficiency [RCV000533599]	pathogenic	11	72195359	72195359	Human	1	name
13610190	CV526769	single nucleotide variant	NM_016729.3(FOLR1):c.139C>G (p.Pro47Ala)	Cerebral folate transport deficiency [RCV000647365]	uncertain significance	11	72192312	72192312	Human	1	name
13812823	CV567519	single nucleotide variant	NM_016729.3(FOLR1):c.293G>A (p.Arg98Gln)	Cerebral folate transport deficiency [RCV000703960]	uncertain significance	11	72195395	72195395	Human	1	name
13829966	CV580031	single nucleotide variant	NM_016729.3(FOLR1):c.118G>A (p.Ala40Thr)	Cerebral folate transport deficiency [RCV001322850]\|Inborn genetic diseases [RCV002318759]	uncertain significance	11	72192291	72192291	Human	2	name
14726092	CV640442	single nucleotide variant	NM_016729.3(FOLR1):c.224A>G (p.His75Arg)	Cerebral folate transport deficiency [RCV000815488]	uncertain significance	11	72195326	72195326	Human	1	name
26905163	CV838984	single nucleotide variant	NM_016729.3(FOLR1):c.123G>C (p.Lys41Asn)	Cerebral folate transport deficiency [RCV001057597]	uncertain significance	11	72192296	72192296	Human	1	name
26904764	CV838985	single nucleotide variant	NM_016729.3(FOLR1):c.173G>A (p.Arg58Gln)	Cerebral folate transport deficiency [RCV001055574]	uncertain significance	11	72195275	72195275	Human	1	name
26906082	CV838986	single nucleotide variant	NM_016729.3(FOLR1):c.232G>A (p.Val78Ile)	Cerebral folate transport deficiency [RCV001061062]	uncertain significance	11	72195334	72195334	Human	1	name
40890263	CV917748	single nucleotide variant	NM_016729.3(FOLR1):c.197G>A (p.Cys66Tyr)	Cerebral folate transport deficiency [RCV001268929]	pathogenic	11	72195299	72195299	Human	1	name
38458955	CV926382	single nucleotide variant	NM_016729.3(FOLR1):c.223C>T (p.His75Tyr)	Cerebral folate transport deficiency [RCV001224477]	uncertain significance	11	72195325	72195325	Human	1	name
126761668	CV994768	single nucleotide variant	NM_016729.3(FOLR1):c.278C>T (p.Ala93Val)	Cerebral folate transport deficiency [RCV001309671]	uncertain significance	11	72195380	72195380	Human	1	name
126756222	CV1009953	single nucleotide variant	NM_016729.3(FOLR1):c.521C>A (p.Ala174Asp)	Cerebral folate transport deficiency [RCV001317130]	uncertain significance	11	72195924	72195924	Human	1	name
126774863	CV1030506	single nucleotide variant	NM_016729.3(FOLR1):c.439C>T (p.Arg147Cys)	Cerebral folate transport deficiency [RCV001347716]\|Inborn genetic diseases [RCV002329333]	uncertain significance	11	72195693	72195693	Human	2	name
126733145	CV1030507	single nucleotide variant	NM_016729.3(FOLR1):c.573A>T (p.Glu191Asp)	Cerebral folate transport deficiency [RCV001349725]	uncertain significance	11	72195976	72195976	Human	1	name
126773708	CV1030509	single nucleotide variant	NM_016729.3(FOLR1):c.653A>G (p.Gln218Arg)	Cerebral folate transport deficiency [RCV001346385]	uncertain significance	11	72196056	72196056	Human	1	name
126913886	CV1047500	single nucleotide variant	NM_016729.3(FOLR1):c.749T>C (p.Leu250Pro)	Cerebral folate transport deficiency [RCV001370274]\|Inborn genetic diseases [RCV002550100]	uncertain significance	11	72196152	72196152	Human	2	name
127256703	CV1062499	single nucleotide variant	NM_016729.3(FOLR1):c.428G>A (p.Trp143Ter)	Cerebral folate transport deficiency [RCV001386599]	pathogenic	11	72195682	72195682	Human	1	name
150534051	CV1300360	single nucleotide variant	NM_016729.3(FOLR1):c.493G>T (p.Gly165Trp)	not provided [RCV001758488]	uncertain significance	11	72195747	72195747	Human		name
150534306	CV1300522	single nucleotide variant	NM_016729.3(FOLR1):c.391A>G (p.Asn131Asp)	Cerebral folate transport deficiency [RCV001868505]\|not provided [RCV001758650]	uncertain significance	11	72195645	72195645	Human	1	name
151233376	CV1320541	single nucleotide variant	NM_016729.3(FOLR1):c.334A>G (p.Asn112Asp)	Seizure [RCV001800165]	uncertain significance	11	72195436	72195436	Human	2	name
151726755	CV1339790	single nucleotide variant	NM_016729.3(FOLR1):c.374G>A (p.Arg125His)	Cerebral folate transport deficiency [RCV002004355]\|not specified [RCV004699640]	uncertain significance	11	72195628	72195628	Human	1	name
151845289	CV1353286	single nucleotide variant	NM_016729.3(FOLR1):c.605A>G (p.Tyr202Cys)	Cerebral folate transport deficiency [RCV001957252]	uncertain significance	11	72196008	72196008	Human	1	name
151715589	CV1355261	single nucleotide variant	NM_016729.3(FOLR1):c.601A>T (p.Asn201Tyr)	Cerebral folate transport deficiency [RCV001965167]\|Inborn genetic diseases [RCV002562151]	uncertain significance	11	72196004	72196004	Human	2	name
151844691	CV1381475	single nucleotide variant	NM_016729.3(FOLR1):c.670G>A (p.Glu224Lys)	Cerebral folate transport deficiency [RCV001881787]	uncertain significance	11	72196073	72196073	Human	1	name
151720063	CV1396518	single nucleotide variant	NM_016729.3(FOLR1):c.474G>C (p.Lys158Asn)	Cerebral folate transport deficiency [RCV001890953]	uncertain significance	11	72195728	72195728	Human	1	name
151771607	CV1410920	single nucleotide variant	NM_016729.3(FOLR1):c.685T>C (p.Tyr229His)	Cerebral folate transport deficiency [RCV001971237]	uncertain significance	11	72196088	72196088	Human	1	name
151793295	CV1411328	single nucleotide variant	NM_016729.3(FOLR1):c.380A>G (p.Glu127Gly)	Cerebral folate transport deficiency [RCV002010900]	uncertain significance	11	72195634	72195634	Human	1	name
151722737	CV1414057	single nucleotide variant	NM_016729.3(FOLR1):c.311C>A (p.Thr104Asn)	Cerebral folate transport deficiency [RCV002020414]	uncertain significance	11	72195413	72195413	Human	1	name
151768083	CV1434195	single nucleotide variant	NM_016729.3(FOLR1):c.419A>T (p.Glu140Val)	Cerebral folate transport deficiency [RCV001874173]	uncertain significance	11	72195673	72195673	Human	1	name
151774327	CV1440065	single nucleotide variant	NM_016729.3(FOLR1):c.665A>G (p.Asn222Ser)	Cerebral folate transport deficiency [RCV001874752]	uncertain significance	11	72196068	72196068	Human	1	name
151866680	CV1447443	single nucleotide variant	NM_016729.3(FOLR1):c.382C>T (p.Arg128Trp)	Cerebral folate transport deficiency [RCV001924691]	uncertain significance	11	72195636	72195636	Human	1	name
151875582	CV1459912	single nucleotide variant	NM_016729.3(FOLR1):c.343C>T (p.Pro115Ser)	Cerebral folate transport deficiency [RCV002036215]	uncertain significance	11	72195445	72195445	Human	1	name
151836734	CV1466467	single nucleotide variant	NM_016729.3(FOLR1):c.437G>A (p.Cys146Tyr)	Cerebral folate transport deficiency [RCV001902375]	uncertain significance	11	72195691	72195691	Human	1	name
152982990	CV1677837	single nucleotide variant	NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)	Cerebral folate transport deficiency [RCV002249991]\|not provided [RCV003128851]	pathogenic\|likely pathogenic	11	72195627	72195627	Human	1	name
155696478	CV1793721	single nucleotide variant	NM_016729.3(FOLR1):c.397C>A (p.Pro133Thr)	Inborn genetic diseases [RCV002375529]	uncertain significance	11	72195651	72195651	Human	1	name
155738900	CV1794125	single nucleotide variant	NM_016729.3(FOLR1):c.431A>G (p.Glu144Gly)	Inborn genetic diseases [RCV002332016]	uncertain significance	11	72195685	72195685	Human	1	name
155728025	CV1818998	single nucleotide variant	NM_016729.3(FOLR1):c.706G>A (p.Ala236Thr)	Inborn genetic diseases [RCV002365084]	uncertain significance	11	72196109	72196109	Human	1	name
156065891	CV1874322	single nucleotide variant	NM_016729.3(FOLR1):c.506G>A (p.Cys169Tyr)	Cerebral folate transport deficiency [RCV003037416]	uncertain significance	11	72195909	72195909	Human	1	name
156030246	CV1903395	single nucleotide variant	NM_016729.3(FOLR1):c.646C>T (p.Pro216Ser)	Cerebral folate transport deficiency [RCV003100619]	uncertain significance	11	72196049	72196049	Human	1	name
10052559	CV194991	single nucleotide variant	NM_016729.3(FOLR1):c.719C>T (p.Ala240Val)	Cerebral folate transport deficiency [RCV000647363]\|Inborn genetic diseases [RCV002372099]\|not provided [RCV000724733]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72196122	72196122	Human	2	name
156391268	CV1991293	single nucleotide variant	NM_016729.3(FOLR1):c.643G>A (p.Asp215Asn)	Cerebral folate transport deficiency [RCV002635012]	uncertain significance	11	72196046	72196046	Human	1	name
156092927	CV2012621	single nucleotide variant	NM_016729.3(FOLR1):c.691G>A (p.Ala231Thr)	Cerebral folate transport deficiency [RCV002706379]	uncertain significance	11	72196094	72196094	Human	1	name
10397468	CV202611	single nucleotide variant	NM_016725.2(FOLR1):c.411G>C (p.Glu137Asp)	not specified [RCV000187419]	uncertain significance	11	72195665	72195665	Human		name
10397469	CV202612	single nucleotide variant	NM_016729.3(FOLR1):c.412G>A (p.Asp138Asn)	not provided [RCV000187420]	uncertain significance	11	72195666	72195666	Human		name
10395991	CV202614	single nucleotide variant	NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)	Cerebral folate transport deficiency [RCV001087564]\|FOLR1-related disorder [RCV003927739]\|Inborn genetic diseases [RCV002314716]\|not provided [RCV000725204]\|not specified [RCV001818451]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	72195911	72195911	Human	2	name , trait , alternate_id
10395990	CV202615	single nucleotide variant	NM_016729.3(FOLR1):c.611G>A (p.Arg204Gln)	Cerebral folate transport deficiency [RCV001041246]\|Inborn genetic diseases [RCV004619221]	uncertain significance	11	72196014	72196014	Human	2	name
10397470	CV202616	single nucleotide variant	NM_016729.3(FOLR1):c.694G>A (p.Ala232Thr)	not provided [RCV000187422]	uncertain significance	11	72196097	72196097	Human		name
10397471	CV202617	single nucleotide variant	NM_016725.2(FOLR1):c.701G>A (p.Ser234Asn)	not specified [RCV000187423]	uncertain significance	11	72196104	72196104	Human		name
10397472	CV202618	single nucleotide variant	NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg)	Cerebral folate transport deficiency [RCV000647364]\|not provided [RCV000187424]	uncertain significance	11	72196127	72196127	Human	1	name
155939911	CV2067990	single nucleotide variant	NM_016729.3(FOLR1):c.403T>G (p.Cys135Gly)	Cerebral folate transport deficiency [RCV002839335]	uncertain significance	11	72195657	72195657	Human	1	name
156091818	CV2077288	single nucleotide variant	NM_016729.3(FOLR1):c.321C>A (p.Tyr107Ter)	Cerebral folate transport deficiency [RCV002847745]	pathogenic	11	72195423	72195423	Human	1	name
156147582	CV2090954	single nucleotide variant	NM_016729.3(FOLR1):c.331C>T (p.Pro111Ser)	Cerebral folate transport deficiency [RCV002890540]	uncertain significance	11	72195433	72195433	Human	1	name
156028643	CV2116696	single nucleotide variant	NM_016729.3(FOLR1):c.503A>T (p.Lys168Met)	Cerebral folate transport deficiency [RCV002923412]	uncertain significance	11	72195906	72195906	Human	1	name
155942390	CV2158252	single nucleotide variant	NM_016729.3(FOLR1):c.379G>A (p.Glu127Lys)	Cerebral folate transport deficiency [RCV003014355]	uncertain significance	11	72195633	72195633	Human	1	name
156182208	CV2167633	single nucleotide variant	NM_016729.3(FOLR1):c.366G>C (p.Gln122His)	Cerebral folate transport deficiency [RCV003023861]	uncertain significance	11	72195620	72195620	Human	1	name
156171075	CV2169921	single nucleotide variant	NM_016729.3(FOLR1):c.715T>C (p.Trp239Arg)	Cerebral folate transport deficiency [RCV003023515]	uncertain significance	11	72196118	72196118	Human	1	name
156241799	CV2177171	single nucleotide variant	NM_016729.3(FOLR1):c.758T>C (p.Leu253Pro)	Cerebral folate transport deficiency [RCV003043467]	uncertain significance	11	72196161	72196161	Human	1	name
155967061	CV2261120	single nucleotide variant	NM_016729.3(FOLR1):c.697A>G (p.Met233Val)	Inborn genetic diseases [RCV002817368]	uncertain significance	11	72196100	72196100	Human	1	name
155979803	CV2263580	single nucleotide variant	NM_016729.3(FOLR1):c.697A>T (p.Met233Leu)	Inborn genetic diseases [RCV002818469]	uncertain significance	11	72196100	72196100	Human	1	name
11642507	CV270652	single nucleotide variant	NM_016729.3(FOLR1):c.314G>T (p.Cys105Phe)	not provided [RCV000376883]	uncertain significance	11	72195416	72195416	Human		name
401734040	CV2736933	single nucleotide variant	NM_016729.3(FOLR1):c.317T>C (p.Leu106Pro)	not provided [RCV003313696]	uncertain significance	11	72195419	72195419	Human		name
401879202	CV2787930	single nucleotide variant	NM_016729.3(FOLR1):c.460A>G (p.Ser154Gly)	Inborn genetic diseases [RCV003384582]	uncertain significance	11	72195714	72195714	Human	1	name
401961863	CV2844186	single nucleotide variant	NM_016729.3(FOLR1):c.407A>G (p.Lys136Arg)	Inborn genetic diseases [RCV004364845]\|not provided [RCV003482027]	uncertain significance	11	72195661	72195661	Human	1	name
405055548	CV2988375	single nucleotide variant	NM_016729.3(FOLR1):c.476G>C (p.Gly159Ala)	Cerebral folate transport deficiency [RCV003631762]	uncertain significance	11	72195730	72195730	Human	1	name
8565533	CV31294	single nucleotide variant	NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)	Cerebral folate transport deficiency [RCV000017643]\|not provided [RCV000725453]	pathogenic	11	72195454	72195454	Human	1	name
8565534	CV31295	single nucleotide variant	NM_016729.3(FOLR1):c.525C>A (p.Cys175Ter)	Cerebral folate transport deficiency [RCV000017644]	pathogenic	11	72195928	72195928	Human	1	name
405746366	CV3253813	single nucleotide variant	NM_016729.3(FOLR1):c.580A>T (p.Thr194Ser)	Inborn genetic diseases [RCV004392077]	likely benign	11	72195983	72195983	Human	1	name
407573550	CV3499355	single nucleotide variant	NM_016729.3(FOLR1):c.562C>G (p.Leu188Val)	Cerebral folate transport deficiency [RCV004701247]\|not specified [RCV005407329]	conflicting interpretations of pathogenicity\|uncertain significance	11	72195965	72195965	Human	1	name
597669100	CV3672953	single nucleotide variant	NM_016729.3(FOLR1):c.672G>T (p.Glu224Asp)	Inborn genetic diseases [RCV004980000]	likely benign\|uncertain significance	11	72196075	72196075	Human	1	name
597683915	CV3706908	single nucleotide variant	NM_016729.3(FOLR1):c.466T>G (p.Trp156Gly)	Cerebral folate transport deficiency [RCV005006687]	likely pathogenic	11	72195720	72195720	Human	1	name
597850203	CV3761766	single nucleotide variant	NM_016729.3(FOLR1):c.518C>A (p.Ala173Asp)	Cerebral folate transport deficiency [RCV005087862]	uncertain significance	11	72195921	72195921	Human	1	name
598217714	CV3891565	single nucleotide variant	NM_016729.3(FOLR1):c.327C>A (p.Cys109Ter)	Cerebral folate transport deficiency [RCV005252407]	pathogenic	11	72195429	72195429	Human	1	name
616933385	CV4011468	single nucleotide variant	NM_016729.3(FOLR1):c.505T>C (p.Cys169Arg)	not specified [RCV005407549]	uncertain significance	11	72195908	72195908	Human		name
12913955	CV421888	single nucleotide variant	NM_016729.3(FOLR1):c.610C>T (p.Arg204Ter)	Cerebral folate transport deficiency [RCV001048202]\|not provided [RCV000494464]	likely pathogenic	11	72196013	72196013	Human	1	name
13489840	CV444886	single nucleotide variant	NM_016729.3(FOLR1):c.322G>A (p.Glu108Lys)	Cerebral folate transport deficiency [RCV002525156]\|Inborn genetic diseases [RCV004023560]\|not provided [RCV000524015]	uncertain significance	11	72195424	72195424	Human	2	name
13481065	CV461458	single nucleotide variant	NM_016729.3(FOLR1):c.726G>A (p.Trp242Ter)	Cerebral folate transport deficiency [RCV000551259]	uncertain significance	11	72196129	72196129	Human	1	name
13491238	CV461671	single nucleotide variant	NM_016729.3(FOLR1):c.692C>T (p.Ala231Val)	Cerebral folate transport deficiency [RCV000534074]	uncertain significance	11	72196095	72196095	Human	1	name
13531189	CV511944	single nucleotide variant	NM_016729.3(FOLR1):c.335A>G (p.Asn112Ser)	Inborn genetic diseases [RCV000623117]	uncertain significance	11	72195437	72195437	Human	1	name
13822593	CV566170	single nucleotide variant	NM_016729.3(FOLR1):c.623G>A (p.Arg208His)	Cerebral folate transport deficiency [RCV000697504]	uncertain significance	11	72196026	72196026	Human	1	name
13808735	CV567520	single nucleotide variant	NM_016729.3(FOLR1):c.451A>G (p.Thr151Ala)	Cerebral folate transport deficiency [RCV000701721]\|not provided [RCV004768589]	uncertain significance	11	72195705	72195705	Human	1	name
13807648	CV567523	single nucleotide variant	NM_016729.3(FOLR1):c.667G>A (p.Glu223Lys)	Cerebral folate transport deficiency [RCV000701256]	uncertain significance	11	72196070	72196070	Human	1	name
13829656	CV579755	single nucleotide variant	NM_016729.3(FOLR1):c.677C>T (p.Ala226Val)	Cerebral folate transport deficiency [RCV001234773]\|Inborn genetic diseases [RCV002317966]\|not provided [RCV001585674]	uncertain significance	11	72196080	72196080	Human	2	name
13829536	CV579763	single nucleotide variant	NM_016729.3(FOLR1):c.639G>A (p.Trp213Ter)	Inborn genetic diseases [RCV002315389]	likely pathogenic	11	72196042	72196042	Human	1	name
14730278	CV640443	single nucleotide variant	NM_016729.3(FOLR1):c.322G>C (p.Glu108Gln)	Cerebral folate transport deficiency [RCV000800884]	uncertain significance	11	72195424	72195424	Human	1	name
14744421	CV640444	single nucleotide variant	NM_016729.3(FOLR1):c.440G>A (p.Arg147His)	Cerebral folate transport deficiency [RCV000824101]	uncertain significance	11	72195694	72195694	Human	1	name
14736492	CV640446	single nucleotide variant	NM_016729.3(FOLR1):c.503A>G (p.Lys168Arg)	Cerebral folate transport deficiency [RCV000803631]	uncertain significance	11	72195906	72195906	Human	1	name
14703526	CV640447	single nucleotide variant	NM_016729.3(FOLR1):c.704G>A (p.Gly235Glu)	Cerebral folate transport deficiency [RCV000807414]	uncertain significance	11	72196107	72196107	Human	1	name
26904275	CV838987	single nucleotide variant	NM_016729.3(FOLR1):c.383G>A (p.Arg128Gln)	Cerebral folate transport deficiency [RCV001053188]	uncertain significance	11	72195637	72195637	Human	1	name
28877365	CV859909	single nucleotide variant	NM_016729.3(FOLR1):c.658A>C (p.Asn220His)	not provided [RCV001090419]	uncertain significance	11	72196061	72196061	Human		name
8634355	CV89575	single nucleotide variant	NM_016724.2(FOLR1):c.304C>T (p.Gln102Ter)	Malignant melanoma [RCV000069672]	not provided	11	72195406	72195406	Human		name
38459006	CV926383	single nucleotide variant	NM_016729.3(FOLR1):c.682T>C (p.Phe228Leu)	Cerebral folate transport deficiency [RCV001224568]	uncertain significance	11	72196085	72196085	Human	1	name
38470139	CV935774	single nucleotide variant	NM_016729.3(FOLR1):c.590A>G (p.Tyr197Cys)	Cerebral folate transport deficiency [RCV001207127]	likely pathogenic\|uncertain significance	11	72195993	72195993	Human	1	name
38470696	CV935775	single nucleotide variant	NM_016729.3(FOLR1):c.614G>A (p.Gly205Glu)	Cerebral folate transport deficiency [RCV001209037]	uncertain significance	11	72196017	72196017	Human	1	name
38461507	CV947654	single nucleotide variant	NM_016729.3(FOLR1):c.508G>T (p.Ala170Ser)	Cerebral folate transport deficiency [RCV001229808]	uncertain significance	11	72195911	72195911	Human	1	name
126763902	CV994769	single nucleotide variant	NM_016729.3(FOLR1):c.415T>C (p.Cys139Arg)	Cerebral folate transport deficiency [RCV001300888]\|Inborn genetic diseases [RCV002327649]	uncertain significance	11	72195669	72195669	Human	2	name
126755329	CV994770	single nucleotide variant	NM_016729.3(FOLR1):c.636G>A (p.Met212Ile)	Cerebral folate transport deficiency [RCV001298325]	uncertain significance	11	72196039	72196039	Human	1	name
126747684	CV994771	single nucleotide variant	NM_016729.3(FOLR1):c.676G>A (p.Ala226Thr)	Cerebral folate transport deficiency [RCV001306289]	uncertain significance	11	72196079	72196079	Human	1	name
405057320	CV2999230	deletion	NM_016729.3(FOLR1):c.181_182del (p.Arg61fs)	Cerebral folate transport deficiency [RCV003631914]	pathogenic	11	72195282	72195283	Human	1	name
597649388	CV3730374	deletion	NM_016729.3(FOLR1):c.134_143del (p.Glu45fs)	not provided [RCV005000663]	likely pathogenic	11	72192304	72192313	Human		name
127259664	CV1062500	microsatellite	NM_016729.3(FOLR1):c.584_587del (p.His195fs)	Cerebral folate transport deficiency [RCV001380189]	pathogenic	11	72195983	72195986	Human		name
151860425	CV1484937	duplication	NM_016729.3(FOLR1):c.330_333dup (p.Asn112fs)	Cerebral folate transport deficiency [RCV001959157]	pathogenic	11	72195430	72195431	Human	1	name
597946827	CV3841749	deletion	NM_016729.3(FOLR1):c.496_514del (p.Phe166fs)	Cerebral folate transport deficiency [RCV005189183]	pathogenic	11	72195897	72195915	Human	1	name
38469621	CV935776	duplication	NM_016729.3(FOLR1):c.713_719dup (p.Ala241fs)	Cerebral folate transport deficiency [RCV001206040]	conflicting interpretations of pathogenicity\|uncertain significance	11	72196109	72196110	Human	1	name
126773934	CV1030508	inversion	NM_016729.3(FOLR1):c.647_648inv (p.Pro216Leu)	Cerebral folate transport deficiency [RCV001346644]	uncertain significance	11	72196050	72196051	Human		name
152155264	CV1668259	indel	NM_016729.3(FOLR1):c.621_622delinsT (p.Arg208fs)	Cerebral folate transport deficiency [RCV002221995]	pathogenic	11	72196024	72196025	Human		name
156000131	CV2149330	indel	NM_016729.3(FOLR1):c.265_267delinsAGA (p.Cys89Arg)	Cerebral folate transport deficiency [RCV002996978]	uncertain significance	11	72195367	72195369	Human		name
8565535	CV31296	duplication	NM_016729.3(FOLR1):c.130_147dup (p.Lys44_Pro49dup)	Cerebral folate transport deficiency [RCV000017645]	pathogenic	11	72192301	72192302	Human	1	name
14707148	CV640445	indel	NM_016729.3(FOLR1):c.465_466delinsTG (p.Trp156Gly)	Cerebral folate transport deficiency [RCV000792232]	likely pathogenic\|uncertain significance	11	72195719	72195720	Human		name
616934300	CV4012296	insertion	NM_016729.3(FOLR1):c.714_715insCTGGGCC (p.Trp239fs)	not specified [RCV005409332]	uncertain significance	11	72196115	72196116	Human		name
151715075	CV1492888	duplication	NM_016729.3(FOLR1):c.731_749dup (p.Leu250_Met251insProAlaTer)	Cerebral folate transport deficiency [RCV001890167]	uncertain significance	11	72196132	72196133	Human	1	name

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