SLC46A1 — 390 ClinVar variants
All ClinVar germline SLC46A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 18 Conflicting · 26 Benign · 6 Benign/Likely benign · 116 Likely benign · 201 Uncertain significance
Full SLC46A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 144
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SLC46A1 p.Ala128Val Conflicting Single submitter
-
SLC46A1 p.Ala335Asp
Conflicting
Single submitter
hereditary folate malabsorption
-
SLC46A1 p.Ala53Val
Conflicting
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Arg114Cys
Conflicting
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Asn419Ser Conflicting Single submitter
- SLC46A1 p.Leu154Phe Conflicting Single submitter
-
SLC46A1 p.Pro425Arg
Conflicting
Single submitter
hereditary folate malabsorption
-
SLC46A1 p.Pro8Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Thr405Met
Conflicting
Single submitter
hereditary folate malabsorption
-
SLC46A1 p.Tyr208Phe
Conflicting
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Val29Ile
Conflicting
Single submitter
hereditary folate malabsorption
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC46A1 p.Ala273Ser Uncertain significance Multiple submitters
-
SLC46A1 p.Ala396Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Arg114Leu
Uncertain significance
Multiple submitters
hereditary folate malabsorption
-
SLC46A1 p.Arg180Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC46A1 p.Arg241Gln Uncertain significance Multiple submitters
-
SLC46A1 p.Arg241Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Arg246Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Gly64Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC46A1 p.Gly64Glu Uncertain significance Multiple submitters
-
SLC46A1 p.Gly93Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Ile251Thr
Uncertain significance
Multiple submitters
hereditary folate malabsorption
-
SLC46A1 p.Ile337Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Leu160Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Lys302Gln
Uncertain significance
Multiple submitters
hereditary folate malabsorption
- SLC46A1 p.Met346Thr Uncertain significance Multiple submitters
-
SLC46A1 p.Pro436Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Ser110Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Val130Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC46A1 p.Val25Ala Uncertain significance Multiple submitters
-
SLC46A1 p.Val91Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 c.*3389G>A
Uncertain significance
Single submitter
hereditary folate malabsorption
-
SLC46A1 c.*3677C>G
Uncertain significance
Single submitter
hereditary folate malabsorption
-
SLC46A1 p.Ala120Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Ala163Ser Uncertain significance Single submitter
- SLC46A1 p.Ala163Thr Uncertain significance Single submitter
-
SLC46A1 p.Ala182Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Ala195Thr Uncertain significance Single submitter
-
SLC46A1 p.Ala205Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Ala215Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Ala259Thr Uncertain significance Single submitter
- SLC46A1 p.Ala321Thr Uncertain significance Single submitter
- SLC46A1 p.Ala437Asp Uncertain significance Single submitter
-
SLC46A1 p.Ala437Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Ala53Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Arg114Gly Uncertain significance Single submitter
- SLC46A1 p.Arg114His Uncertain significance Single submitter
- SLC46A1 p.Arg175Cys Uncertain significance Single submitter
- SLC46A1 p.Arg177His Uncertain significance Single submitter
- SLC46A1 p.Arg204Trp Uncertain significance Single submitter
- SLC46A1 p.Arg22Gln Uncertain significance Single submitter
- SLC46A1 p.Arg246His Uncertain significance Single submitter
- SLC46A1 p.Arg246Leu Uncertain significance Single submitter
- SLC46A1 p.Arg249Pro Uncertain significance Single submitter
-
SLC46A1 p.Asp300Asn
Uncertain significance
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Cys298Tyr Uncertain significance Single submitter
- SLC46A1 p.Gln138Arg Uncertain significance Single submitter
- SLC46A1 p.Gln454Glu Uncertain significance Single submitter
-
SLC46A1 p.Gln76Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC46A1 p.Gly142Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Gly147Val Uncertain significance Single submitter
- SLC46A1 p.Gly159Ser Uncertain significance Single submitter
- SLC46A1 p.Gly189Arg Uncertain significance Single submitter
- SLC46A1 p.Gly207Asp Uncertain significance Single submitter
- SLC46A1 p.Gly408Ser Uncertain significance Single submitter
- SLC46A1 p.Gly40Ser Uncertain significance Single submitter
- SLC46A1 p.Gly56Ala Uncertain significance Single submitter
- SLC46A1 p.Gly65Arg Uncertain significance Single submitter
- SLC46A1 p.Gly65Val Uncertain significance Single submitter
- SLC46A1 p.His140Pro Uncertain significance Single submitter
-
SLC46A1 p.His140Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.His248Tyr Uncertain significance Single submitter
- SLC46A1 p.His266Tyr Uncertain significance Single submitter
-
SLC46A1 p.His312Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.His449Asp Uncertain significance Single submitter
- SLC46A1 p.Ile188Leu Uncertain significance Single submitter
- SLC46A1 p.Ile274Asn Uncertain significance Single submitter
-
SLC46A1 p.Ile354Ser
Uncertain significance
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Leu124Val Uncertain significance Single submitter
- SLC46A1 p.Leu382Met Uncertain significance Single submitter
- SLC46A1 p.Leu391Val Uncertain significance Single submitter
- SLC46A1 p.Leu401Pro Uncertain significance Single submitter
- SLC46A1 p.Leu432Ile Uncertain significance Single submitter
-
SLC46A1 p.Leu432Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Leu439Val Uncertain significance Single submitter
- SLC46A1 p.Leu450Phe Uncertain significance Single submitter
- SLC46A1 p.Leu55Arg Uncertain significance Single submitter
- SLC46A1 p.Leu98Phe Uncertain significance Single submitter
- SLC46A1 p.Lys238Glu Uncertain significance Single submitter
- SLC46A1 p.Lys262Met Uncertain significance Single submitter
- SLC46A1 p.Met181Leu Uncertain significance Single submitter
- SLC46A1 p.Met358Lys Uncertain significance Single submitter
- SLC46A1 p.Met403Val Uncertain significance Single submitter
- SLC46A1 p.Met421Val Uncertain significance Single submitter
- SLC46A1 p.Met442Ile Uncertain significance Single submitter
- SLC46A1 p.Pro24Leu Uncertain significance Single submitter
- SLC46A1 p.Pro260Arg Uncertain significance Single submitter
- SLC46A1 p.Pro314Arg Uncertain significance Single submitter
- SLC46A1 p.Pro356Ala Uncertain significance Single submitter
-
SLC46A1 p.Pro459Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Ser100Leu Uncertain significance Single submitter
- SLC46A1 p.Ser131Tyr Uncertain significance Single submitter
- SLC46A1 p.Ser458Arg Uncertain significance Single submitter
-
SLC46A1 p.Thr223Ser
Uncertain significance
Single submitter
hereditary folate malabsorption
-
SLC46A1 p.Thr244Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Thr417Ile Uncertain significance Single submitter
- SLC46A1 p.Trp213Cys Uncertain significance Single submitter
-
SLC46A1 p.Tyr255His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Val145Met Uncertain significance Single submitter
- SLC46A1 p.Val276Met Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
SLC46A1 p.Ala402Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Gly56Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.His84Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Leu146Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 p.Phe420Leu
Uncertain significance
Multiple submitters
hereditary folate malabsorption
-
SLC46A1 p.Ser167Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC46A1 c.*3456G>C
Uncertain significance
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Ala191Val Uncertain significance Single submitter
- SLC46A1 p.Ala390Val Uncertain significance Single submitter
- SLC46A1 p.Arg148Ser Uncertain significance Single submitter
- SLC46A1 p.Arg177Leu Uncertain significance Single submitter
-
SLC46A1 p.Arg376Gln
Conflicting
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Asp156His Uncertain significance Single submitter
- SLC46A1 p.Asp331Asn Uncertain significance Single submitter
- SLC46A1 p.Gln388Glu Uncertain significance Single submitter
- SLC46A1 p.Gly200Ser Uncertain significance Single submitter
- SLC46A1 p.Gly23Asp Uncertain significance Single submitter
- SLC46A1 p.Gly338Ser Likely benign Single submitter
- SLC46A1 p.Gly429Glu Uncertain significance Single submitter
- SLC46A1 p.His247Tyr Uncertain significance Single submitter
- SLC46A1 p.Lys381Glu Uncertain significance Single submitter
- SLC46A1 p.Phe243Leu Uncertain significance Single submitter
- SLC46A1 p.Phe349Ser Uncertain significance Single submitter
- SLC46A1 p.Phe51Cys Uncertain significance Single submitter
-
SLC46A1 p.Phe99Leu
Conflicting
Single submitter
hereditary folate malabsorption
- SLC46A1 p.Ser121Leu Uncertain significance Single submitter
- SLC46A1 p.Ser173Tyr Uncertain significance Single submitter
- SLC46A1 p.Thr355Met Uncertain significance Single submitter
- SLC46A1 p.Trp107Cys Uncertain significance Single submitter
-
SLC46A1 p.Tyr143His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC46A1 p.Tyr255Cys Uncertain significance Single submitter
- SLC46A1 p.Tyr306Cys Uncertain significance Single submitter
- SLC46A1 p.Val383Ala Uncertain significance Single submitter
-
SLC46A1 p.Ser318Arg
Pathogenic
No assertion criteria
hereditary folate malabsorption
All SLC46A1 variants
Pathogenic 17
- c.1082-1G>A Multiple submitters SLC46A1-related disorder
- p.Ala163fs Single submitter hereditary folate malabsorption
- p.Ala268delinsGlyAsnIleTer Single submitter
- p.Cys66fs Single submitter
- p.Gly65fs Single submitter hereditary folate malabsorption
- p.Ile149fs Single submitter
- p.Ile188fs Single submitter
- p.Leu413fs Single submitter
- p.Leu418fs Single submitter hereditary folate malabsorption
- p.Phe275fs Single submitter
- p.Tyr225fs Single submitter
- p.Arg113Cys No assertion criteria hereditary folate malabsorption
- p.Arg113Ser No assertion criteria hereditary folate malabsorption
- p.Arg376Trp No assertion criteria hereditary folate malabsorption
- p.Asn68fs No assertion criteria hereditary folate malabsorption
- p.Gly338Arg No assertion criteria hereditary folate malabsorption
- p.Ser318Arg No assertion criteria hereditary folate malabsorption ⚠
Pathogenic/Likely pathogenic 1
- p.Tyr327_Cys328delinsTer Multiple submitters hereditary folate malabsorption
Likely pathogenic 5
- c.1322+2_1322+4delinsAT Single submitter
- c.221_228+1del Single submitter
- p.Leu153fs Single submitter hereditary folate malabsorption
- p.Ser393fs Single submitter hereditary folate malabsorption
- p.Tyr46Ter Single submitter hereditary folate malabsorption
Conflicting classifications of pathogenicity 18
- p.Ala128Val Single submitter ⚠
- p.Ala335Asp Single submitter hereditary folate malabsorption ⚠
- p.Ala53Val Single submitter Inborn genetic diseases ⚠
- p.Arg114Cys Single submitter hereditary folate malabsorption ⚠
- p.Arg376Gln Single submitter hereditary folate malabsorption ⚠
- p.Asn419Ser Single submitter ⚠
- p.Gly283= Single submitter hereditary folate malabsorption
- p.Leu154= Single submitter hereditary folate malabsorption
- p.Leu154Phe Single submitter ⚠
- p.Leu324= Single submitter hereditary folate malabsorption
- p.Phe99Leu Single submitter hereditary folate malabsorption ⚠
- p.Pro425Arg Single submitter hereditary folate malabsorption ⚠
- p.Pro8Ser Single submitter Inborn genetic diseases ⚠
- p.Ser167= Single submitter hereditary folate malabsorption
- p.Thr405Met Single submitter hereditary folate malabsorption ⚠
- p.Tyr208Phe Single submitter Inborn genetic diseases ⚠
- p.Val171Asp Single submitter hereditary folate malabsorption
- p.Val29Ile Single submitter hereditary folate malabsorption ⚠
Benign 26
- c.1082-114T>C Multiple submitters
- c.1082-89G>A Multiple submitters
- c.1322+249= Multiple submitters
- c.*1407C>T Multiple submitters hereditary folate malabsorption
- c.*2853G>A Multiple submitters hereditary folate malabsorption
- c.*3009= Multiple submitters hereditary folate malabsorption
- c.*3062C>A Multiple submitters hereditary folate malabsorption
- c.*3266G>A Multiple submitters hereditary folate malabsorption
- c.*3785T>C Multiple submitters hereditary folate malabsorption
- c.*3947G>A Multiple submitters hereditary folate malabsorption
- c.*4030C>T Multiple submitters hereditary folate malabsorption
- c.*4780C>T Multiple submitters hereditary folate malabsorption
- c.*4884G>T Multiple submitters hereditary folate malabsorption
- c.*928A>G Multiple submitters hereditary folate malabsorption
- p.Ile409= Multiple submitters
- c.*1243A>G Single submitter hereditary folate malabsorption
- c.*1774A>G Single submitter hereditary folate malabsorption
- c.*2217A>G Single submitter hereditary folate malabsorption
- c.*2248T>C Single submitter hereditary folate malabsorption
- c.*2746G>A Single submitter hereditary folate malabsorption
- c.*2843G>A Single submitter hereditary folate malabsorption
- c.*2968C>T Single submitter hereditary folate malabsorption
- c.*4584C>T Single submitter hereditary folate malabsorption
- c.*671C>T Single submitter hereditary folate malabsorption
- c.*692A>T Single submitter hereditary folate malabsorption
- c.*729G>A Single submitter hereditary folate malabsorption
Benign/Likely benign 6
- c.228+17G>A Multiple submitters
- p.Arg63Ser Multiple submitters hereditary folate malabsorption
- p.Lys302= Multiple submitters hereditary folate malabsorption
- p.Pro456Ser Multiple submitters
- p.Thr295Ala Multiple submitters hereditary folate malabsorption
- p.Val252= Multiple submitters hereditary folate malabsorption
Likely benign 116
- c.1166-17T>C Multiple submitters
- c.1323-11G>A Multiple submitters
- c.1323-18C>G Multiple submitters
- c.1323-20C>G Multiple submitters
- c.*4316C>G Multiple submitters hereditary folate malabsorption
- p.Ala330= Multiple submitters
- p.Arg113= Multiple submitters
- p.His281= Multiple submitters
- p.Leu214= Multiple submitters hereditary folate malabsorption
- p.Thr279= Multiple submitters
- c.1081+8G>C Single submitter
- c.1082-15T>C Single submitter
- c.1165+10A>G Single submitter
- c.1165+15C>T Single submitter
- c.1166-8C>T Single submitter
- c.1323-13T>C Single submitter
- c.1323-7C>G Single submitter
- c.228+11G>A Single submitter
- c.228+5C>T Single submitter
- c.228+6G>C Single submitter
- c.229-15A>G Single submitter
- c.229-18G>A Single submitter
- c.229-8C>T Single submitter
- c.*1332G>A Single submitter hereditary folate malabsorption
- c.*1392C>A Single submitter hereditary folate malabsorption
- c.*1648G>A Single submitter hereditary folate malabsorption
- c.*2123G>C Single submitter hereditary folate malabsorption
- c.*2852C>T Single submitter hereditary folate malabsorption
- c.*3120A>G Single submitter hereditary folate malabsorption
- c.*4035G>A Single submitter hereditary folate malabsorption
- c.*60G>T Single submitter hereditary folate malabsorption
- p.Ala128= Single submitter
- p.Ala162= Single submitter
- p.Ala169= Single submitter
- p.Ala226= Single submitter
- p.Ala53= Single submitter
- p.Arg63= Single submitter
- p.Asp286= Single submitter
- p.Cys298= Single submitter
- p.Gln136= Single submitter
- p.Gln138= Single submitter
- p.Gln326= Single submitter
- p.Gln39= Single submitter
- p.Gln45= Single submitter
- p.Glu77= Single submitter
- p.Gly105= Single submitter
- p.Gly192= Single submitter
- p.Gly231= Single submitter
- p.Gly307= Single submitter
- p.Gly338Ser Single submitter ⚠
- p.Gly408= Single submitter
- p.Gly431= Single submitter
- p.Gly56= Single submitter
- p.Gly93= Single submitter
- p.His140= Single submitter
- p.His248= Single submitter
- p.Ile149= Single submitter
- p.Ile274Val Single submitter Inborn genetic diseases
- p.Ile304= Single submitter
- p.Ile337= Single submitter
- p.Ile440= Single submitter
- p.Leu104= Single submitter
- p.Leu117= Single submitter
- p.Leu122= Single submitter
- p.Leu126= Single submitter
- p.Leu146= Single submitter
- p.Leu153= Single submitter
- p.Leu197= Single submitter
- p.Leu198= Single submitter
- p.Leu203= Single submitter
- p.Leu272= Single submitter
- p.Leu293= Single submitter
- p.Leu313= Single submitter
- p.Leu320= Single submitter
- p.Leu329= Single submitter
- p.Leu357= Single submitter
- p.Leu42= Single submitter
- p.Leu427= Single submitter
- p.Leu432= Single submitter
- p.Leu433= Single submitter
- p.Leu434= Single submitter
- p.Leu443= Single submitter
- p.Leu450= Single submitter
- p.Leu47= Single submitter
- p.Leu87= Single submitter
- p.Leu98= Single submitter
- p.Lys323= Single submitter
- p.Met403Thr Single submitter
- p.Phe144= Single submitter
- p.Phe275= Single submitter
- p.Phe359= Single submitter
- p.Pro237= Single submitter
- p.Pro258= Single submitter
- p.Pro27= Single submitter
- p.Pro356= Single submitter
- p.Pro415= Single submitter
- p.Pro436= Single submitter
- p.Pro456= Single submitter
- p.Ser131= Single submitter
- p.Ser164= Single submitter
- p.Ser174= Single submitter
- p.Ser368= Single submitter
- p.Ser407= Single submitter
- p.Ser70= Single submitter
- p.Thr289= Single submitter
- p.Thr355= Single submitter
- p.Thr80= Single submitter
- p.Thr86= Single submitter
- p.Tyr225= Single submitter
- p.Tyr270= Single submitter
- p.Val130= Single submitter
- p.Val141= Single submitter
- p.Val145= Single submitter
- p.Val276= Single submitter
- p.Val374= Single submitter
- p.Val91Leu Single submitter Inborn genetic diseases
Uncertain significance 201
- c.*4418C>T Multiple submitters hereditary folate malabsorption
- p.Ala273Ser Multiple submitters ⚠
- p.Ala396Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala402Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg114Leu Multiple submitters hereditary folate malabsorption ⚠
- p.Arg180Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg241Gln Multiple submitters ⚠
- p.Arg241Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg246Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly56Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly64Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly64Glu Multiple submitters ⚠
- p.Gly93Ser Multiple submitters Inborn genetic diseases ⚠
- p.His84Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile251Thr Multiple submitters hereditary folate malabsorption ⚠
- p.Ile337Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu146Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu160Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys302Gln Multiple submitters hereditary folate malabsorption ⚠
- p.Lys445fs Multiple submitters hereditary folate malabsorption
- p.Met346Thr Multiple submitters ⚠
- p.Phe420Leu Multiple submitters hereditary folate malabsorption ⚠
- p.Pro436Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser110Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser167Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val130Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val25Ala Multiple submitters ⚠
- p.Val91Ala Multiple submitters Inborn genetic diseases ⚠
- c.1082-3C>T Single submitter
- c.1165+3G>C Single submitter
- c.1322+5T>C Single submitter
- c.1323-3C>T Single submitter
- c.*1006A>C Single submitter hereditary folate malabsorption
- c.*1062G>A Single submitter hereditary folate malabsorption
- c.*1076G>A Single submitter hereditary folate malabsorption
- c.*11C>T Single submitter hereditary folate malabsorption
- c.*1249G>A Single submitter hereditary folate malabsorption
- c.*1298G>A Single submitter hereditary folate malabsorption
- c.*129C>T Single submitter hereditary folate malabsorption
- c.*1335C>T Single submitter hereditary folate malabsorption
- c.*1336G>A Single submitter hereditary folate malabsorption
- c.*1383A>G Single submitter hereditary folate malabsorption
- c.*1521G>A Single submitter hereditary folate malabsorption
- c.*1627T>A Single submitter hereditary folate malabsorption
- c.*1795C>T Single submitter hereditary folate malabsorption
- c.*1831C>A Single submitter hereditary folate malabsorption
- c.*1839G>A Single submitter hereditary folate malabsorption
- c.*1981C>G Single submitter hereditary folate malabsorption
- c.*1981C>T Single submitter hereditary folate malabsorption
- c.*2027C>A Single submitter hereditary folate malabsorption
- c.*2262G>A Single submitter hereditary folate malabsorption
- c.*2273A>G Single submitter hereditary folate malabsorption
- c.*2401G>A Single submitter hereditary folate malabsorption
- c.*2486T>C Single submitter hereditary folate malabsorption
- c.*2493A>G Single submitter hereditary folate malabsorption
- c.*2513G>C Single submitter hereditary folate malabsorption
- c.*2558C>T Single submitter hereditary folate malabsorption
- c.*2636C>A Single submitter hereditary folate malabsorption
- c.*2661G>C Single submitter hereditary folate malabsorption
- c.*2724G>C Single submitter hereditary folate malabsorption
- c.*2808G>C Single submitter hereditary folate malabsorption
- c.*2868G>A Single submitter hereditary folate malabsorption
- c.*2901C>T Single submitter hereditary folate malabsorption
- c.*2945G>A Single submitter hereditary folate malabsorption
- c.*297C>T Single submitter hereditary folate malabsorption
- c.*3009G>A Single submitter hereditary folate malabsorption
- c.*3135A>G Single submitter hereditary folate malabsorption
- c.*3203A>G Single submitter hereditary folate malabsorption
- c.*3279C>T Single submitter hereditary folate malabsorption
- c.*3302A>G Single submitter hereditary folate malabsorption
- c.*3389G>A Single submitter hereditary folate malabsorption ⚠
- c.*3402A>G Single submitter hereditary folate malabsorption
- c.*3456G>C Single submitter hereditary folate malabsorption ⚠
- c.*351C>T Single submitter hereditary folate malabsorption
- c.*3603C>T Single submitter hereditary folate malabsorption
- c.*3661T>C Single submitter hereditary folate malabsorption
- c.*3677C>G Single submitter hereditary folate malabsorption ⚠
- c.*3789C>A Single submitter hereditary folate malabsorption
- c.*3913A>T Single submitter hereditary folate malabsorption
- c.*3959C>G Single submitter hereditary folate malabsorption
- c.*3985A>T Single submitter hereditary folate malabsorption
- c.*4071G>A Single submitter hereditary folate malabsorption
- c.*4091C>A Single submitter hereditary folate malabsorption
- c.*4158G>A Single submitter hereditary folate malabsorption
- c.*4184T>G Single submitter hereditary folate malabsorption
- c.*4320A>G Single submitter hereditary folate malabsorption
- c.*4323C>G Single submitter hereditary folate malabsorption
- c.*4636C>T Single submitter hereditary folate malabsorption
- c.*4661G>A Single submitter hereditary folate malabsorption
- c.*4742A>G Single submitter hereditary folate malabsorption
- c.*476G>A Single submitter hereditary folate malabsorption
- c.*4804T>A Single submitter hereditary folate malabsorption
- c.*4G>T Single submitter hereditary folate malabsorption
- c.*785T>G Single submitter hereditary folate malabsorption
- c.*835A>G Single submitter hereditary folate malabsorption
- c.*90G>A Single submitter hereditary folate malabsorption
- p.Ala120Thr Single submitter Inborn genetic diseases ⚠
- p.Ala163Ser Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala182Ser Single submitter Inborn genetic diseases ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala205Ser Single submitter Inborn genetic diseases ⚠
- p.Ala215Thr Single submitter Inborn genetic diseases ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala321Thr Single submitter ⚠
- p.Ala390Val Single submitter ⚠
- p.Ala437Asp Single submitter ⚠
- p.Ala437Thr Single submitter Inborn genetic diseases ⚠
- p.Ala53Thr Single submitter Inborn genetic diseases ⚠
- p.Arg114Gly Single submitter ⚠
- p.Arg114His Single submitter ⚠
- p.Arg148Ser Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg177His Single submitter ⚠
- p.Arg177Leu Single submitter ⚠
- p.Arg204Trp Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg246His Single submitter ⚠
- p.Arg246Leu Single submitter ⚠
- p.Arg249Pro Single submitter ⚠
- p.Asp156His Single submitter ⚠
- p.Asp300Asn Single submitter hereditary folate malabsorption ⚠
- p.Asp331Asn Single submitter ⚠
- p.Cys298Tyr Single submitter ⚠
- p.Gln138Arg Single submitter ⚠
- p.Gln326His Single submitter
- p.Gln388Glu Single submitter ⚠
- p.Gln454Glu Single submitter ⚠
- p.Gln76Lys Single submitter Inborn genetic diseases ⚠
- p.Gly142Val Single submitter Inborn genetic diseases ⚠
- p.Gly147Val Single submitter ⚠
- p.Gly159Ser Single submitter ⚠
- p.Gly189Arg Single submitter ⚠
- p.Gly200Ser Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Gly408Ser Single submitter ⚠
- p.Gly40Ser Single submitter ⚠
- p.Gly429Glu Single submitter ⚠
- p.Gly56Ala Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Gly65Val Single submitter ⚠
- p.His140Pro Single submitter ⚠
- p.His140Tyr Single submitter Inborn genetic diseases ⚠
- p.His247Tyr Single submitter ⚠
- p.His248Tyr Single submitter ⚠
- p.His266Tyr Single submitter ⚠
- p.His312Gln Single submitter Inborn genetic diseases ⚠
- p.His449Asp Single submitter ⚠
- p.Ile188Leu Single submitter ⚠
- p.Ile274Asn Single submitter ⚠
- p.Ile354Ser Single submitter hereditary folate malabsorption ⚠
- p.Leu124Val Single submitter ⚠
- p.Leu218_Leu219insAlaLeu Single submitter
- p.Leu382Met Single submitter ⚠
- p.Leu391Val Single submitter ⚠
- p.Leu401Pro Single submitter ⚠
- p.Leu432Ile Single submitter ⚠
- p.Leu432Phe Single submitter Inborn genetic diseases ⚠
- p.Leu439Val Single submitter ⚠
- p.Leu450Phe Single submitter ⚠
- p.Leu55Arg Single submitter ⚠
- p.Leu98Phe Single submitter ⚠
- p.Lys238Glu Single submitter ⚠
- p.Lys262Met Single submitter ⚠
- p.Lys265Asn Single submitter
- p.Lys381Glu Single submitter ⚠
- p.Met181Leu Single submitter ⚠
- p.Met358Lys Single submitter ⚠
- p.Met403Val Single submitter ⚠
- p.Met421Val Single submitter ⚠
- p.Met442Ile Single submitter ⚠
- p.Phe243Leu Single submitter ⚠
- p.Phe349Ser Single submitter ⚠
- p.Phe51Cys Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro260Arg Single submitter ⚠
- p.Pro314Arg Single submitter ⚠
- p.Pro356Ala Single submitter ⚠
- p.Pro425Leu Single submitter Inborn genetic diseases
- p.Pro459Thr Single submitter Inborn genetic diseases ⚠
- p.Ser100Leu Single submitter ⚠
- p.Ser121Leu Single submitter ⚠
- p.Ser131Tyr Single submitter ⚠
- p.Ser173Phe Single submitter
- p.Ser173Tyr Single submitter ⚠
- p.Ser458Arg Single submitter ⚠
- p.Thr223Ser Single submitter hereditary folate malabsorption ⚠
- p.Thr244Ser Single submitter Inborn genetic diseases ⚠
- p.Thr355Met Single submitter ⚠
- p.Thr417Ile Single submitter ⚠
- p.Trp107Cys Single submitter ⚠
- p.Trp213Cys Single submitter ⚠
- p.Tyr143His Single submitter Inborn genetic diseases ⚠
- p.Tyr255Cys Single submitter ⚠
- p.Tyr255His Single submitter Inborn genetic diseases ⚠
- p.Tyr306Cys Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val276Met Single submitter ⚠
- p.Val383Ala Single submitter ⚠