FOLR1 — 285 ClinVar variants
All ClinVar germline FOLR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
17 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 22 Conflicting · 10 Benign · 3 Benign/Likely benign · 98 Likely benign · 121 Uncertain significance
Full FOLR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FOLR1 p.Ala170Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ala240Val
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ala64Ser
Conflicting
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg4Gln
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Asn35Asp
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Cys169Tyr
Conflicting
Single submitter
FOLR1-related disorder
-
FOLR1 p.Gln72Arg
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Met5Val
Conflicting
Single submitter
Inborn genetic diseases
-
FOLR1 p.Val78Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FOLR1 p.Ala22Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Arg125His
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg4Trp
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg98Gln
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Asn131Asp
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Asp215Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Cys135Gly
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Cys139Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Gln8Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Glu108Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Glu55Lys
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gly20Ala
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Leu250Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Lys136Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Thr151Ala
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Thr24Ile
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Trp15Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Trp242Arg
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala170Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala173Asp
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala174Asp
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala231Thr
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala231Val
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
- FOLR1 p.Ala232Thr Uncertain significance Single submitter
-
FOLR1 p.Ala236Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ala27Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ala27Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala29Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ala93Val
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg128Trp
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg208His
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg58Gln
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Asn112Asp
Uncertain significance
Single submitter
Seizure
- FOLR1 p.Asn220His Uncertain significance Single submitter
- FOLR1 p.Asp138Asn Uncertain significance Single submitter
- FOLR1 p.Cys105Phe Uncertain significance Single submitter
-
FOLR1 p.Cys146Gly
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Cys146Tyr
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
- FOLR1 p.Cys169Arg Uncertain significance Single submitter
-
FOLR1 p.Gln218Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gln23Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gln3Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu108Gln
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu127Lys
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu140Val
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu191Asp
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu223Lys
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu224Lys
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu50Lys
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gly159Ala
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
- FOLR1 p.Gly165Trp Uncertain significance Single submitter
- FOLR1 p.His42Asn Uncertain significance Single submitter
-
FOLR1 p.His43Leu
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.His75Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.His75Tyr
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
- FOLR1 p.Leu106Pro Uncertain significance Single submitter
-
FOLR1 p.Leu253Pro
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Leu81Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Lys168Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Lys168Met
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Lys52Asn
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Lys97Asn
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Met233Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Met233Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Pro111Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Pro115Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Pro133Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Pro216Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Pro59Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Pro59His
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ser154Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Ser67Phe
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Thr31Ile
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Thr31Ser
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Thr6Ile
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Trp239Arg
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
- FOLR1 p.Trp86Arg Uncertain significance Single submitter
-
FOLR1 p.Trp86Gly
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Val18Ala
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
Predictors split 28
The independent predictors disagree with each other — read with care.
-
FOLR1 p.Ala226Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Ala40Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Arg128Gln
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg147Cys
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg204Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Arg98Trp
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Asn201Tyr
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Asn222Ser
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Glu127Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Met38Val
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Phe228Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Pro94Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOLR1 p.Thr104Asn
Uncertain significance
Multiple submitters
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Ala226Thr
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Arg147His
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Asn112Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FOLR1 p.Asp215His Uncertain significance Single submitter
- FOLR1 p.Glu137Lys Uncertain significance Single submitter
-
FOLR1 p.Glu144Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Gly205Glu
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gly20Glu
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Gly235Glu
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Lys41Asn
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Met212Ile
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Pro47Ala
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Trp124Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOLR1 p.Tyr229His
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
-
FOLR1 p.Tyr82His
Uncertain significance
Single submitter
neurodegenerative syndrome due to cerebral folate transport deficiency
All FOLR1 variants
Pathogenic 17
- p.Gln118Ter Multiple submitters FOLR1-related disorder
- p.Arg208fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Arg61fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asn112fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys109Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys175Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys66Tyr Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gln141Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Glu127Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.His195fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu12fs Single submitter
- p.Lys76fs Single submitter
- p.Phe166fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp143Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp86Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Tyr107Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Lys44_Pro49dup No assertion criteria neurodegenerative syndrome due to cerebral folate transport deficiency
Pathogenic/Likely pathogenic 3
- p.Arg125Cys Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Arg204Ter Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp156Gly Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
Likely pathogenic 11
- c.358-2A>G Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- c.357+1G>A Single submitter
- c.494-2A>G Single submitter
- p.Arg58Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Glu45fs Single submitter
- p.Met1Val Single submitter
- p.Trp156fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp156Gly Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp213Ter Single submitter Inborn genetic diseases
- p.Tyr197Cys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys96Tyr No assertion criteria Epileptic encephalopathy
Conflicting classifications of pathogenicity 22
- c.357+8T>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+2T>C Single submitter Inborn genetic diseases
- c.494-3C>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.-14C>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala170= Single submitter Inborn genetic diseases
- p.Ala170Thr Single submitter Inborn genetic diseases ⚠
- p.Ala226= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala240Val Single submitter Inborn genetic diseases ⚠
- p.Ala241fs Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala64Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg4Gln Single submitter Inborn genetic diseases ⚠
- p.Asn35Asp Single submitter Inborn genetic diseases ⚠
- p.Asn87= Single submitter Inborn genetic diseases
- p.Cys169= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys169Tyr Single submitter FOLR1-related disorder ⚠
- p.Gln72Arg Single submitter Inborn genetic diseases ⚠
- p.Leu188Val Single submitter FOLR1-related disorder
- p.Leu53= Single submitter Inborn genetic diseases
- p.Met5Val Single submitter Inborn genetic diseases ⚠
- p.Ser196= Single submitter Inborn genetic diseases
- p.Val19= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Val78Ile Single submitter Inborn genetic diseases ⚠
Benign 10
- c.168+46G>C Multiple submitters
- c.169-186C>G Multiple submitters
- c.169-71T>C Multiple submitters
- c.-9+516G>A Multiple submitters
- c.-9+603C>T Multiple submitters
- c.-9+695C>T Multiple submitters
- c.-20G>A Single submitter gastrointestinal stromal tumor
- c.-9+153G>A Single submitter
- c.-9+870A>C Single submitter
- p.Thr163= Single submitter
Benign/Likely benign 3
- p.Arg98Trp Multiple submitters Inborn genetic diseases ⚠
- p.Tyr107= Multiple submitters Inborn genetic diseases
- p.Val132= Multiple submitters Inborn genetic diseases
Likely benign 98
- c.168+37G>T Multiple submitters
- c.168+8del Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-12T>C Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-94T>G Multiple submitters
- c.357+18C>A Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+12G>A Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala27= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala64= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asn39= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys37= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Cys57= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gln218= Multiple submitters Inborn genetic diseases
- p.Gln3= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Phe214= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro111= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro238= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ser149= Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ser79= Multiple submitters Inborn genetic diseases
- c.168+10G>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.168+11G>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.168+13G>A Single submitter
- c.168+16A>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.168+9G>A Single submitter
- c.169-13T>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-14del Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-17T>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-19T>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-5T>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-7C>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-7C>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.169-8C>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.358-16T>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.358-18T>A Single submitter
- c.358-18T>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.358-19T>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+13G>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+13G>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+15G>C Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+18C>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+19A>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+20G>A Single submitter
- c.493+7G>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.493+8C>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.494-20G>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.494-4A>G Single submitter
- c.494-6C>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.494-7del Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.494-8C>T Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.-30G>A Single submitter
- c.-9+9C>T Single submitter
- p.Ala173= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala174= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala241= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala74= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Arg125= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Arg147= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Arg4Leu Single submitter Inborn genetic diseases
- p.Arg83= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asn131= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asn167= Single submitter Inborn genetic diseases
- p.Asn190= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asn220= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asp103= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asp121= Single submitter
- p.Asp145= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Asp215= Single submitter Inborn genetic diseases
- p.Cys66= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Glu140= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Glu224Asp Single submitter Inborn genetic diseases
- p.Glu55= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gly207= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gly48= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.His195= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.His54= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu113= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu130= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu188= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu245= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu248= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu250= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu255= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Lys153= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Lys46= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Phe178= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Phe244= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro177= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro216= Single submitter
- p.Pro47= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro49= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro94= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Thr104= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Thr151= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Thr194Ser Single submitter Inborn genetic diseases
- p.Thr6= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Val129= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Val14= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Val18= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Val199= Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
Uncertain significance 121
- p.Ala226Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala22Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala40Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg125His Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg128Gln Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg147Cys Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg204Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Trp Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg98Gln Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Asn131Asp Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Asn201Tyr Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Asn222Ser Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Asp215Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys135Gly Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Cys139Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln8Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu108Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu127Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu55Lys Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gly20Ala Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Leu250Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys136Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met38Val Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Phe228Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro94Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr104Asn Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Thr151Ala Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Thr24Ile Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Trp15Cys Multiple submitters Inborn genetic diseases ⚠
- p.Trp242Arg Multiple submitters neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- c.357+3_357+4delinsTA Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.357+6C>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.-122C>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.-27G>A Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- c.*122A>G Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Ala170Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala173Asp Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala174Asp Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala226Thr Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala231Thr Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala231Val Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala236Thr Single submitter Inborn genetic diseases ⚠
- p.Ala27Gly Single submitter Inborn genetic diseases ⚠
- p.Ala27Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ala29Ser Single submitter Inborn genetic diseases ⚠
- p.Ala93Val Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg128Trp Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg147His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg208His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Arg58Gln Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Asn112Asp Single submitter Seizure ⚠
- p.Asn112Ser Single submitter Inborn genetic diseases ⚠
- p.Asn220His Single submitter ⚠
- p.Asp138Asn Single submitter ⚠
- p.Asp215His Single submitter ⚠
- p.Cys105Phe Single submitter ⚠
- p.Cys146Gly Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Cys146Tyr Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Cys169Arg Single submitter ⚠
- p.Cys89Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gln122His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Gln218Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gln23Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gln3Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu108Gln Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu127Lys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu140Val Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu144Gly Single submitter Inborn genetic diseases ⚠
- p.Glu191Asp Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu223Lys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu224Lys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Glu50Lys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gly159Ala Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gly165Trp Single submitter ⚠
- p.Gly205Glu Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gly20Glu Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Gly235Glu Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.His42Asn Single submitter ⚠
- p.His43Leu Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.His75Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.His75Tyr Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Leu106Pro Single submitter ⚠
- p.Leu250_Met251insProAlaTer Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Leu253Pro Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Leu81Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Lys158Asn Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Lys168Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Lys168Met Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Lys41Asn Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Lys52Asn Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Lys97Asn Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Met212Ile Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Met233Leu Single submitter Inborn genetic diseases ⚠
- p.Met233Val Single submitter Inborn genetic diseases ⚠
- p.Pro111Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Pro115Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Pro133Thr Single submitter Inborn genetic diseases ⚠
- p.Pro216Leu Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Pro216Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Pro47Ala Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Pro59Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Pro59His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ser123Cys Single submitter Inborn genetic diseases
- p.Ser154Gly Single submitter Inborn genetic diseases ⚠
- p.Ser67Phe Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Ser67Pro Single submitter
- p.Thr31Ile Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Thr31Ser Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Thr6Ile Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Trp124Arg Single submitter Inborn genetic diseases ⚠
- p.Trp239Arg Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Trp239fs Single submitter
- p.Trp242Ter Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Trp86Arg Single submitter ⚠
- p.Trp86Gly Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Tyr202Cys Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency
- p.Tyr229His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Tyr82His Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠
- p.Val18Ala Single submitter neurodegenerative syndrome due to cerebral folate transport deficiency ⚠