SLC19A2 — 440 ClinVar variants
All ClinVar germline SLC19A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
40 Pathogenic · 6 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 18 Conflicting · 11 Benign · 11 Benign/Likely benign · 179 Likely benign · 164 Uncertain significance
Full SLC19A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SLC19A2 p.Ala391Thr Conflicting Single submitter
-
SLC19A2 p.Arg275Leu
Conflicting
Single submitter
monogenic diabetes
-
SLC19A2 p.Arg67Lys
Conflicting
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Arg67Thr
Conflicting
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ile230Phe
Conflicting
Single submitter
Inborn genetic diseases
- SLC19A2 p.Lys355Gln Conflicting Single submitter
-
SLC19A2 p.Met153Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Thr496Ala
Conflicting
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val18Met
Conflicting
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Val426Ile
Conflicting
Single submitter
monogenic diabetes
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC19A2 p.Ala134Thr
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ala201Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Ala467Thr
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Arg275Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Arg327Cys
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Asn71Ser
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Gly184Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Gly235Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Gly362Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Gly447Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Ile331Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Met479Thr
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Pro265Ser
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Pro269Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Ser107Gly
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Thr316Ile
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Thr365Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Thr382Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Val336Leu
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val442Gly
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val443Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Ala118Thr
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ala183Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Ala201Val Uncertain significance Single submitter
-
SLC19A2 p.Ala205Gly
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Arg275His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Arg327Leu
Uncertain significance
Single submitter
monogenic diabetes
-
SLC19A2 p.Arg419Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Arg419His Uncertain significance Single submitter
-
SLC19A2 p.Asp487His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Asp61Glu
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Cys197Ser Uncertain significance Single submitter
- SLC19A2 p.Cys307Ser Uncertain significance Single submitter
- SLC19A2 p.Cys389Phe Uncertain significance Single submitter
-
SLC19A2 p.Cys482Arg
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Glu128Asp
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Glu363Lys Uncertain significance Single submitter
-
SLC19A2 p.Glu68Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Glu72Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Gly172Val Uncertain significance Single submitter
-
SLC19A2 p.Gly184Asp
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Gly318Ser Uncertain significance Single submitter
-
SLC19A2 p.Gly344Cys
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Gly474Ser Uncertain significance Single submitter
- SLC19A2 p.His219Tyr Uncertain significance Single submitter
-
SLC19A2 p.Ile109Thr
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Ile237Val Uncertain significance Single submitter
-
SLC19A2 p.Ile253Val
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Ile354Thr Uncertain significance Single submitter
-
SLC19A2 p.Ile430Thr
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Leu106Ile Uncertain significance Single submitter
-
SLC19A2 p.Leu122Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Leu190Pro
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Leu259Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Leu282Pro
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Leu457Phe
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Lys480Arg
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Lys484Asn
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Met261Thr
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Met364Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Met417Leu
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Met417Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Phe216Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Phe216Val
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Pro221Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Pro269Ser Uncertain significance Single submitter
- SLC19A2 p.Pro271His Uncertain significance Single submitter
-
SLC19A2 p.Pro325Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Ser163Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Ser189Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Ser194Phe
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ser299Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Thr223Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Thr408Ile Uncertain significance Single submitter
-
SLC19A2 p.Thr453Ser
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Thr495Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Thr65Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Trp112Arg Uncertain significance Single submitter
-
SLC19A2 p.Trp358Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Tyr141Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Tyr400Cys
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val110Ile
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val149Met
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Val167Ala Uncertain significance Single submitter
- SLC19A2 p.Val171Leu Uncertain significance Single submitter
-
SLC19A2 p.Val171Met
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val238Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Val351Ala
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val377Met
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Val478Ile Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
-
SLC19A2 p.Ala431Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Arg96Cys
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Arg96His
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Asn333Ser
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ile441Thr
Benign
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Leu195Phe
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Leu95Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Met380Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Pro60Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC19A2 p.Ser163Cys
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ser291Tyr
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ser80Ala
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Thr436Met
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Tyr160Cys
Uncertain significance
Multiple submitters
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Tyr393Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC19A2 p.Ala345Ser Uncertain significance Single submitter
- SLC19A2 p.Ala345Thr Uncertain significance Single submitter
-
SLC19A2 p.Ala374Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Ile331Phe
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ile406Thr
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Ile458Phe
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Leu366Phe Uncertain significance Single submitter
-
SLC19A2 p.Leu438Phe
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Lys62Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Met380Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Met401Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Phe129Leu
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Phe456Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC19A2 p.Pro211Ser Uncertain significance Single submitter
-
SLC19A2 p.Ser173Cys
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
- SLC19A2 p.Ser326Phe Uncertain significance Single submitter
- SLC19A2 p.Ser326Tyr Uncertain significance Single submitter
- SLC19A2 p.Ser80Cys Uncertain significance Single submitter
- SLC19A2 p.Thr405Ala Uncertain significance Single submitter
-
SLC19A2 p.Tyr154Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Tyr332Cys
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
-
SLC19A2 p.Val323Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Val423Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC19A2 p.Val442Ala
Uncertain significance
Single submitter
thiamine-responsive megaloblastic anemia syndrome
All SLC19A2 variants
Pathogenic 40
- c.1223+1G>A Multiple submitters SLC19A2-related disorder
- p.Arg162Ter Multiple submitters SLC19A2-related disorder
- p.Gln233Ter Multiple submitters ear malformation
- p.Glu254Ter Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Glu66Ter Multiple submitters sensorineural hearing loss disorder
- p.Ser143Phe Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Tyr81Ter Multiple submitters SLC19A2-related disorder
- c.1031-1G>A Single submitter Possible mitochondrial disorder - nuclear genes
- c.1223+1G>T Single submitter
- p.Ala136fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ala391fs Single submitter
- p.Arg226fs Single submitter
- p.Asn333fs Single submitter
- p.Gln225Ter Single submitter
- p.Glu128Ter Single submitter
- p.Glu451fs Single submitter
- p.Glu50Ter Single submitter
- p.Gly120Ter Single submitter
- p.Leu166Ter Single submitter
- p.Met401fs Single submitter
- p.Phe456_Leu457insTer Single submitter
- p.Pro209fs Single submitter
- p.Pro242fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ser186fs Single submitter
- p.Ser189fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Trp185Ter Single submitter
- p.Trp301Ter Single submitter
- p.Trp320Arg Single submitter
- p.Trp387Ter Single submitter
- p.Tyr131fs Single submitter
- p.Tyr378Ter Single submitter
- p.Tyr390fs Single submitter
- p.Val200fs Single submitter
- p.Ile145fs No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Leu195fs No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Leu296fs No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Thr22fs No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Trp358Ter No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Trp361Ter No assertion criteria thiamine-responsive megaloblastic anemia syndrome
- p.Val383fs No assertion criteria thiamine-responsive megaloblastic anemia syndrome
Pathogenic/Likely pathogenic 6
- p.Arg397Ter Multiple submitters SLC19A2-related disorder
- p.Gly105Glu Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Gly172Asp Multiple submitters SLC19A2-related disorder
- p.Gly334Asp Multiple submitters SLC19A2-related disorder
- p.Trp250Ter Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Tyr144fs Multiple submitters thiamine-responsive megaloblastic anemia syndrome
Likely pathogenic 11
- c.807+2T>G Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Val69Phe Multiple submitters
- c.1224-2A>T Single submitter
- c.1365+1G>A Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.808-2A>G Single submitter
- p.Ala91Asp Single submitter
- p.Arg67fs Single submitter SLC19A2-related disorder
- p.Leu304fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Leu64Pro Single submitter
- p.Thr158Arg Single submitter
- p.Thr405Arg Single submitter
Conflicting classifications of pathogenicity 18
- c.1224-4dup Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.-12C>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ala16dup Single submitter
- p.Ala303= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ala391Thr Single submitter ⚠
- p.Arg275Leu Single submitter monogenic diabetes ⚠
- p.Arg67Lys Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Arg67Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Glu251= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ile230Phe Single submitter Inborn genetic diseases ⚠
- p.Lys213= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Lys355Gln Single submitter ⚠
- p.Met153Leu Single submitter Inborn genetic diseases ⚠
- p.Pro265= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Thr496Ala Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val18Met Single submitter Inborn genetic diseases ⚠
- p.Val336= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Val426Ile Single submitter monogenic diabetes ⚠
Benign 11
- c.-4C>T Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- c.*60G>A Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- c.*967A>G Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Ile441Thr Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val266Met Multiple submitters monogenic diabetes
- c.1031-106T>C Single submitter
- c.1224-106_1224-104del Single submitter
- c.1224-4del Single submitter
- c.1366-184C>T Single submitter
- c.205-284T>G Single submitter
- c.807+210T>C Single submitter
Benign/Likely benign 11
- c.1030+19T>C Multiple submitters
- c.205-14del Multiple submitters
- c.205-25dup Multiple submitters
- c.-23G>C Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- c.*1421A>G Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- c.*1524C>T Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- c.*1814G>A Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Leu187= Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Thr360= Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Thr365Ser Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Thr405= Multiple submitters thiamine-responsive megaloblastic anemia syndrome
Likely benign 179
- c.1031-21dup Multiple submitters
- c.1223+13del Multiple submitters
- c.204+17C>T Multiple submitters
- c.-114C>T Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Ala338= Multiple submitters
- p.Asn385= Multiple submitters
- p.Gly335= Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Ile133= Multiple submitters
- p.Ile257= Multiple submitters
- p.Leu277= Multiple submitters
- p.Leu432= Multiple submitters
- p.Pro211= Multiple submitters
- p.Thr196= Multiple submitters
- p.Thr436= Multiple submitters
- p.Tyr290= Multiple submitters
- p.Tyr378= Multiple submitters
- p.Val426= Multiple submitters
- c.1030+115G>A Single submitter
- c.1030+17A>G Single submitter
- c.1030+8A>G Single submitter
- c.1031-10_1031-7del Single submitter
- c.1031-17T>G Single submitter
- c.1031-19T>C Single submitter
- c.1031-20T>G Single submitter
- c.1031-5T>C Single submitter
- c.1031-6C>T Single submitter
- c.1223+10_1223+19del Single submitter
- c.1223+14C>G Single submitter
- c.1223+16C>T Single submitter
- c.1223+17A>G Single submitter
- c.1223+20G>C Single submitter
- c.1223+9_1223+19delinsG Single submitter
- c.1224-13del Single submitter
- c.1224-15_1224-14del Single submitter
- c.1224-18_1224-17del Single submitter
- c.1224-18C>T Single submitter
- c.1224-7_1224-4del Single submitter
- c.1224-8T>C Single submitter
- c.1365+10C>T Single submitter
- c.1365+15T>G Single submitter
- c.1365+18G>T Single submitter
- c.1365+196G>T Single submitter
- c.1365+20A>G Single submitter
- c.1365+7T>C Single submitter
- c.1366-125G>C Single submitter
- c.1366-15T>C Single submitter
- c.1366-16C>T Single submitter
- c.1366-4C>T Single submitter
- c.1366-4del Single submitter
- c.1366-55A>G Single submitter
- c.1366-6T>G Single submitter
- c.1366-8C>T Single submitter
- c.1366-9C>G Single submitter
- c.204+11C>T Single submitter
- c.204+13G>A Single submitter
- c.204+16G>A Single submitter
- c.204+18G>T Single submitter
- c.204+20G>A Single submitter
- c.204+4CG[4] Single submitter
- c.205-13C>A Single submitter
- c.205-13C>T Single submitter
- c.205-13dup Single submitter
- c.205-15T>C Single submitter
- c.205-18T>C Single submitter
- c.205-18T>G Single submitter
- c.205-19T>G Single submitter
- c.205-20_205-14del Single submitter
- c.205-20T>G Single submitter
- c.205-25_205-24dup Single submitter
- c.205-26_205-20del Single submitter
- c.205-296G>T Single submitter
- c.205-9_205-6del Single submitter
- c.205-9T>A Single submitter
- c.807+11C>T Single submitter
- c.807+12_807+13insA Single submitter
- c.807+12C>A Single submitter
- c.807+137TTCA[5] Single submitter
- c.807+13T>G Single submitter
- c.807+17A>C Single submitter
- c.807+18T>A Single submitter
- c.807+19A>G Single submitter
- c.807+81del Single submitter
- c.807+8C>T Single submitter
- c.807+9A>G Single submitter
- c.808-10T>G Single submitter
- c.808-20T>C Single submitter
- c.808-235T>G Single submitter
- c.808-6A>C Single submitter
- c.808-6A>G Single submitter
- c.808-79_808-68del Single submitter
- c.808-85G>C Single submitter
- c.-196C>A Single submitter
- c.-20C>A Single submitter
- p.Ala118= Single submitter
- p.Ala123= Single submitter
- p.Ala203= Single submitter
- p.Ala329= Single submitter
- p.Ala347= Single submitter
- p.Ala375= Single submitter
- p.Ala421= Single submitter
- p.Ala431= Single submitter
- p.Ala433= Single submitter
- p.Ala460= Single submitter
- p.Arg275= Single submitter
- p.Arg327= Single submitter
- p.Arg67= Single submitter
- p.Arg96= Single submitter
- p.Asn284= Single submitter
- p.Cys297= Single submitter
- p.Cys307= Single submitter
- p.Cys482= Single submitter
- p.Gln489= Single submitter
- p.Glu321= Single submitter
- p.Gly176= Single submitter
- p.Gly184= Single submitter
- p.Gly229= Single submitter
- p.Gly308= Single submitter
- p.Gly318= Single submitter
- p.Gly425= Single submitter
- p.Ile193= Single submitter
- p.Ile466= Single submitter
- p.Leu103= Single submitter
- p.Leu122= Single submitter
- p.Leu179= Single submitter
- p.Leu279= Single submitter
- p.Leu287= Single submitter
- p.Leu304= Single submitter
- p.Leu371= Single submitter
- p.Leu403= Single submitter
- p.Leu415= Single submitter
- p.Leu437= Single submitter
- p.Leu465= Single submitter
- p.Leu485= Single submitter
- p.Leu82= Single submitter
- p.Leu85= Single submitter
- p.Leu90= Single submitter
- p.Phe216= Single submitter
- p.Phe470= Single submitter
- p.Phe86= Single submitter
- p.Phe89= Single submitter
- p.Pro242= Single submitter
- p.Pro325= Single submitter
- p.Pro488= Single submitter
- p.Ser181= Single submitter
- p.Ser186= Single submitter
- p.Ser189= Single submitter
- p.Ser299= Single submitter
- p.Ser305= Single submitter
- p.Ser367= Single submitter
- p.Ser392= Single submitter
- p.Ser492= Single submitter
- p.Ser497= Single submitter
- p.Ser80= Single submitter
- p.Thr135= Single submitter
- p.Thr170= Single submitter
- p.Thr223= Single submitter
- p.Thr306= Single submitter
- p.Thr453= Single submitter
- p.Thr495= Single submitter
- p.Thr65= Single submitter
- p.Thr78= Single submitter
- p.Tyr142= Single submitter
- p.Tyr144= Single submitter
- p.Tyr146= Single submitter
- p.Tyr154= Single submitter
- p.Tyr400= Single submitter
- p.Tyr81= Single submitter
- p.Tyr97= Single submitter
- p.Val149= Single submitter
- p.Val18= Single submitter
- p.Val180= Single submitter
- p.Val232= Single submitter
- p.Val278= Single submitter
- p.Val281= Single submitter
- p.Val377= Single submitter
- p.Val469= Single submitter
- p.Val476= Single submitter
- p.Leu95= No assertion criteria SLC19A2-related disorder
- p.Tyr393= No assertion criteria SLC19A2-related disorder
Uncertain significance 164
- p.Ala134Thr Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ala201Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala431Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala467Thr Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Arg275Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg327Cys Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Arg96Cys Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Arg96His Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Asn333Ser Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Asn71Ser Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Glu321Lys Multiple submitters Inborn genetic diseases
- p.Gly184Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly235Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly362Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly447Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile331Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile354del Multiple submitters Inborn genetic diseases
- p.Leu195Phe Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Leu95Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met380Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met479Thr Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Pro265Ser Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Pro269= Multiple submitters thiamine-responsive megaloblastic anemia syndrome
- p.Pro269Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro60Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser107Gly Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ser163Cys Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ser291Tyr Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ser80Ala Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Thr316Ile Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Thr365Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr382Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr436Met Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Trp250Cys Multiple submitters
- p.Tyr160Cys Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Tyr393Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val336Leu Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val442Gly Multiple submitters thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val443Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val88Met Multiple submitters Inborn genetic diseases
- c.1030+15A>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.807+6C>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.808-3T>C Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.-103G>A Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.-163G>T Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1186A>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1246T>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1349T>C Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1493G>A Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1523A>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1543C>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1588T>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*174C>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1927C>T Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*1928T>C Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*255A>T Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*31A>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*390T>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*440T>C Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*51C>G Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*627C>T Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*638G>A Single submitter thiamine-responsive megaloblastic anemia syndrome
- c.*658T>C Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ala118Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ala183Val Single submitter Inborn genetic diseases ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala205Gly Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ala345Ser Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala374Val Single submitter Inborn genetic diseases ⚠
- p.Arg275His Single submitter Inborn genetic diseases ⚠
- p.Arg327Leu Single submitter monogenic diabetes ⚠
- p.Arg419Cys Single submitter Inborn genetic diseases ⚠
- p.Arg419His Single submitter ⚠
- p.Asp487His Single submitter Inborn genetic diseases ⚠
- p.Asp61Glu Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Cys197Ser Single submitter ⚠
- p.Cys307Ser Single submitter ⚠
- p.Cys389Phe Single submitter ⚠
- p.Cys482Arg Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Gln311= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Glu128Asp Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Glu363Lys Single submitter ⚠
- p.Glu68Val Single submitter Inborn genetic diseases ⚠
- p.Glu72Asp Single submitter Inborn genetic diseases ⚠
- p.Gly172Val Single submitter ⚠
- p.Gly184Asp Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Gly318Ser Single submitter ⚠
- p.Gly344Cys Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Gly474Ser Single submitter ⚠
- p.His219Tyr Single submitter ⚠
- p.Ile109Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ile237Val Single submitter ⚠
- p.Ile253Val Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ile331Phe Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ile354Thr Single submitter ⚠
- p.Ile406Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ile430Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ile458Phe Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Leu106Ile Single submitter ⚠
- p.Leu116Phe Single submitter Inborn genetic diseases
- p.Leu122Pro Single submitter Inborn genetic diseases ⚠
- p.Leu190Pro Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Leu259Val Single submitter Inborn genetic diseases ⚠
- p.Leu282Pro Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Leu366Phe Single submitter ⚠
- p.Leu438Phe Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Leu457Phe Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Lys480Arg Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Lys484Asn Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Lys484Ter Single submitter
- p.Lys62Gln Single submitter Inborn genetic diseases ⚠
- p.Met261Thr Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Met364Ile Single submitter Inborn genetic diseases ⚠
- p.Met380Ile Single submitter Inborn genetic diseases ⚠
- p.Met401Val Single submitter Inborn genetic diseases ⚠
- p.Met417Leu Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Met417Val Single submitter Inborn genetic diseases ⚠
- p.Met479fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Phe129Leu Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Phe216Ser Single submitter Inborn genetic diseases ⚠
- p.Phe216Val Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Phe456Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro221Leu Single submitter Inborn genetic diseases ⚠
- p.Pro269Ser Single submitter ⚠
- p.Pro271His Single submitter ⚠
- p.Pro325Leu Single submitter Inborn genetic diseases ⚠
- p.Pro60= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Ser163Asn Single submitter Inborn genetic diseases ⚠
- p.Ser173Cys Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ser189Thr Single submitter Inborn genetic diseases ⚠
- p.Ser194Phe Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Ser299Thr Single submitter Inborn genetic diseases ⚠
- p.Ser326Phe Single submitter ⚠
- p.Ser326Tyr Single submitter ⚠
- p.Ser80Cys Single submitter ⚠
- p.Ter498Lys Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Thr223Ile Single submitter Inborn genetic diseases ⚠
- p.Thr405Ala Single submitter ⚠
- p.Thr408Ile Single submitter ⚠
- p.Thr453Ser Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Thr495Asn Single submitter Inborn genetic diseases ⚠
- p.Thr495fs Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Thr65Ser Single submitter Inborn genetic diseases ⚠
- p.Trp112Arg Single submitter ⚠
- p.Trp358Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr141Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr154Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr332Cys Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Tyr400Cys Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val110Ile Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val149Met Single submitter Inborn genetic diseases ⚠
- p.Val167Ala Single submitter ⚠
- p.Val171Leu Single submitter ⚠
- p.Val171Met Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val238Phe Single submitter Inborn genetic diseases ⚠
- p.Val323Met Single submitter Inborn genetic diseases ⚠
- p.Val351Ala Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val377Met Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val383= Single submitter thiamine-responsive megaloblastic anemia syndrome
- p.Val423Leu Single submitter Inborn genetic diseases ⚠
- p.Val442Ala Single submitter thiamine-responsive megaloblastic anemia syndrome ⚠
- p.Val478Ile Single submitter ⚠