SLC19A3 — 687 ClinVar variants

All ClinVar germline SLC19A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 256 flagged for review →

42 Pathogenic · 13 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 45 Conflicting · 59 Benign · 9 Benign/Likely benign · 216 Likely benign · 285 Uncertain significance

Full SLC19A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 256

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SLC19A3 p.Thr422Ala Pathogenic Multiple submitters
Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)

Predictors agree, ClinVar conflicts 28

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC19A3 p.Ala183Val Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala367Thr Conflicting Single submitter
Inborn genetic diseases
SLC19A3 p.Ala371Val Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala447Thr Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Arg205Gly Conflicting Single submitter
Inborn genetic diseases
SLC19A3 p.Arg402Cys Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asn53Asp Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp75Asn Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gln418Arg Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gly451Glu Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.His221Pro Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile207Met Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile314Thr Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile36Val Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu188Val Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu385Arg Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys208Asn Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met384Arg Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe186Ser Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser204Asn Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser382Asn Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser457Asn Conflicting Single submitter
Inborn genetic diseases
SLC19A3 p.Ser89Arg Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Val109Ile Conflicting Single submitter
Inborn genetic diseases
SLC19A3 p.Val139Glu Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Val146Ile Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Val448Ala Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Val481Met Conflicting Single submitter
biotin-responsive basal ganglia disease

Predictors lean, ClinVar uncertain 180

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 180

SLC19A3 p.Ala119Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala125Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala150Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala178Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala288Pro Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala288Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Asn340Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Asp2Asn Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Asp342Asn Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Asp480Gly Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Gln471Arg Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Glu134Lys Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Gly154Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Gly227Ser Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Gly326Val Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Gly327Glu Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ile51Val Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ile92Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Leu177Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Leu35Phe Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Lys246Asn Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Met421Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Pro133Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Pro203Ser Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Pro233Ala Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Pro254Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Pro308Leu Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Pro33Leu Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Pro434Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Ser436Arg Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ser488Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Trp59Arg Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr128Cys Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr128His Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr298Asp Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr305Cys Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr373Cys Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr63His Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val156Met Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val182Met Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val319Ile Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val470Gly Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val481Ala Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Val58Ile Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala119Ser Uncertain significance Single submitter
SLC19A3 p.Ala150Pro Uncertain significance Single submitter
SLC19A3 p.Ala153Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala158Thr Uncertain significance Single submitter
SLC19A3 p.Ala290Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala307Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala330Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala333Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala333Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala357Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala357Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala450Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Arg402His Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Arg78Cys Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asn256Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asn316Lys Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asn368Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp260Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp311Tyr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp43Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp469Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Cys20Tyr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Cys372Trp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Cys372Tyr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gln294Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gln418Pro Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Glu110Lys Uncertain significance Single submitter
SLC19A3 p.Glu120Lys Uncertain significance Single submitter
SLC19A3 p.Glu134Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Glu224Lys Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Glu320Ala Uncertain significance Single submitter
SLC19A3 p.Glu320Lys Uncertain significance Single submitter
SLC19A3 p.Glu486Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gly154Arg Uncertain significance Single submitter
SLC19A3 p.Gly227Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gly345Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Gly358Asp Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gly443Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.His135Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.His364Tyr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.His483Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile13Met Uncertain significance Single submitter
SLC19A3 p.Ile175Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile18Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile237Thr Uncertain significance Single submitter
SLC19A3 p.Ile409Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile420Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile437Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile460Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile460Val Uncertain significance Single submitter
SLC19A3 p.Ile51Met Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ile91Val Uncertain significance Single submitter
SLC19A3 p.Leu160Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu161Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu164Pro Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu185Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu238Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu302Pro Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu385Pro Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu398Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu415Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu440Val Uncertain significance Single submitter
SLC19A3 p.Leu46Pro Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Leu68Pro Uncertain significance Single submitter
SLC19A3 p.Leu68Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys104Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys194Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Lys202Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Lys208Gln Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys208Glu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys246Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys276Gln Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Lys306Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met167Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met192Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met384Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met421Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met455Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met455Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Met492Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe186Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe25Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Phe279Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe287Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe34Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe56Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro215Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro30Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro484Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro484Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Pro57Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro69Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser181Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser196Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser204Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser212Arg Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser239Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser251Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser251Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser251Ile Uncertain significance Single submitter
SLC19A3 p.Ser62Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser9Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Thr240Pro Uncertain significance Single submitter
SLC19A3 p.Thr411Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Thr419Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Thr461Asn Uncertain significance Single submitter
biotin-responsive basal ganglia disease

Predictors split 47

The independent predictors disagree with each other — read with care.

SLC19A3 p.Ala165Glu Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala165Pro Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala328Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Arg138Gly Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Arg402Gly Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Asn173Ser Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Gly87Cys Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ile389Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ile452Thr Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Leu405Phe Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Leu73Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Met455Arg Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Phe184Ser Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Pro81Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC19A3 p.Ser163Phe Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ser163Tyr Uncertain significance Multiple submitters
SLC19A3 p.Thr289Ala Uncertain significance Multiple submitters
biotin-responsive basal ganglia disease
SLC19A3 p.Ala119Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala321Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala357Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala395Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ala395Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Arg138Ser Uncertain significance Single submitter
SLC19A3 p.Arg78His Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asn316Ser Uncertain significance Single submitter
SLC19A3 p.Asn53Thr Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Asp427Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Cys20Ser Uncertain significance Single submitter
SLC19A3 p.Gln393Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Gln418Glu Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Gly141Cys Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.His135Arg Uncertain significance Single submitter
SLC19A3 p.Met106Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Met167Lys Uncertain significance Single submitter
SLC19A3 p.Met363Ile Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe112Ser Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe112Val Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe262Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Phe352Leu Conflicting Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro193Ser Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Pro37Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser140Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC19A3 p.Ser155Leu Conflicting Single submitter
SLC19A3 p.Ser168Leu Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Ser196Gly Uncertain significance Single submitter
biotin-responsive basal ganglia disease
SLC19A3 p.Tyr383Cys Uncertain significance Single submitter
SLC19A3 p.Val58Phe Uncertain significance Single submitter
biotin-responsive basal ganglia disease

All SLC19A3 variants

Pathogenic 42

c.1172+2T>G Multiple submitters biotin-responsive basal ganglia disease
p.His200fs Multiple submitters biotin-responsive basal ganglia disease
p.Ser181Pro Multiple submitters biotin-responsive basal ganglia disease
p.Ser26fs Multiple submitters biotin-responsive basal ganglia disease
p.Thr422Ala Multiple submitters Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) ⚠
p.Tyr298Ter Multiple submitters biotin-responsive basal ganglia disease
p.Tyr63Ter Multiple submitters biotin-responsive basal ganglia disease
p.Val103fs Multiple submitters biotin-responsive basal ganglia disease
p.Val299fs Multiple submitters biotin-responsive basal ganglia disease
p.Val58fs Multiple submitters biotin-responsive basal ganglia disease
p.Ala286fs Single submitter biotin-responsive basal ganglia disease
p.Ala330fs Single submitter biotin-responsive basal ganglia disease
p.Asn297fs Single submitter biotin-responsive basal ganglia disease
p.Asp43fs Single submitter biotin-responsive basal ganglia disease
p.Cys143fs Single submitter biotin-responsive basal ganglia disease
p.Cys272Ter Single submitter biotin-responsive basal ganglia disease
p.Gln159Ter Single submitter biotin-responsive basal ganglia disease
p.Glu50fs Single submitter biotin-responsive basal ganglia disease
p.Glu54Ter Single submitter biotin-responsive basal ganglia disease
p.Ile420fs Single submitter biotin-responsive basal ganglia disease
p.Lys232fs Single submitter biotin-responsive basal ganglia disease
p.Lys44Ter Single submitter biotin-responsive basal ganglia disease
p.Phe392delinsLeuAsnIleAsnGlnIleAlaTer Single submitter biotin-responsive basal ganglia disease
p.Ser444Arg Single submitter
p.Ser7Ter Single submitter biotin-responsive basal ganglia disease
p.Thr234fs Single submitter biotin-responsive basal ganglia disease
p.Thr388_Ile389insTer Single submitter biotin-responsive basal ganglia disease
p.Trp265Ter Single submitter biotin-responsive basal ganglia disease
p.Trp281Ter Single submitter biotin-responsive basal ganglia disease
p.Trp285Ter Single submitter biotin-responsive basal ganglia disease
p.Trp59Ter Single submitter biotin-responsive basal ganglia disease
p.Tyr128Ter Single submitter biotin-responsive basal ganglia disease
p.Tyr169Ter Single submitter biotin-responsive basal ganglia disease
p.Tyr4Ter Single submitter biotin-responsive basal ganglia disease
p.Val259fs Single submitter biotin-responsive basal ganglia disease
p.Val406fs Single submitter biotin-responsive basal ganglia disease
p.Ala321Val No assertion criteria biotin-responsive basal ganglia disease
p.Glu320Gln No assertion criteria biotin-responsive basal ganglia disease
p.Leu66Pro No assertion criteria biotin-responsive basal ganglia disease
p.Lys44Glu No assertion criteria biotin-responsive basal ganglia disease
p.Trp284Arg No assertion criteria biotin-responsive basal ganglia disease
p.Val426del No assertion criteria biotin-responsive basal ganglia disease

Pathogenic/Likely pathogenic 13

c.1172+1G>A Multiple submitters biotin-responsive basal ganglia disease
c.1173-1G>A Multiple submitters biotin-responsive basal ganglia disease
c.980-14A>G Multiple submitters biotin-responsive basal ganglia disease
p.Gly23Val Multiple submitters SLC19A3-related disorder
p.Leu161fs Multiple submitters biotin-responsive basal ganglia disease
p.Leu360fs Multiple submitters biotin-responsive basal ganglia disease
p.Lys208fs Multiple submitters biotin-responsive basal ganglia disease
p.Met28fs Multiple submitters biotin-responsive basal ganglia disease
p.Trp12Ter Multiple submitters biotin-responsive basal ganglia disease
p.Trp94Arg Multiple submitters biotin-responsive basal ganglia disease
p.Tyr113His Multiple submitters biotin-responsive basal ganglia disease
p.Tyr171Ter Multiple submitters biotin-responsive basal ganglia disease
p.Tyr38fs Multiple submitters biotin-responsive basal ganglia disease

Likely pathogenic 18

c.151-1G>C Multiple submitters biotin-responsive basal ganglia disease
p.Met1Leu Multiple submitters biotin-responsive basal ganglia disease
c.1172+5G>C Single submitter biotin-responsive basal ganglia disease
c.150+2T>C Single submitter biotin-responsive basal ganglia disease
c.151-1G>A Single submitter biotin-responsive basal ganglia disease
c.151-2A>G Single submitter biotin-responsive basal ganglia disease
p.Ala150Val Single submitter biotin-responsive basal ganglia disease
p.Asn173Asp Single submitter biotin-responsive basal ganglia disease
p.Asn410His Single submitter
p.Glu320Ter Single submitter
p.Glu50Ter Single submitter
p.Gly23Arg Single submitter biotin-responsive basal ganglia disease
p.Gly317Glu Single submitter biotin-responsive basal ganglia disease
p.Leu160Pro Single submitter
p.Lys468fs Single submitter biotin-responsive basal ganglia disease
p.Pro57Arg Single submitter biotin-responsive basal ganglia disease
p.Thr422Pro Single submitter biotin-responsive basal ganglia disease
p.Tyr462Ter Single submitter biotin-responsive basal ganglia disease

Conflicting classifications of pathogenicity 45

c.1173-4A>T Single submitter Inborn genetic diseases
c.1314+1G>A Single submitter biotin-responsive basal ganglia disease
c.1315-4C>A Single submitter biotin-responsive basal ganglia disease
c.*8G>A Single submitter biotin-responsive basal ganglia disease
c.*8G>T Single submitter
p.Ala183Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala367Thr Single submitter Inborn genetic diseases ⚠
p.Ala371Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala447Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Arg205Gly Single submitter Inborn genetic diseases ⚠
p.Arg402Cys Single submitter biotin-responsive basal ganglia disease ⚠
p.Asn53Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp75= Single submitter biotin-responsive basal ganglia disease
p.Asp75Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Gln267= Single submitter biotin-responsive basal ganglia disease
p.Gln418Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Gln418Glu Single submitter biotin-responsive basal ganglia disease ⚠
p.Glu120= Single submitter biotin-responsive basal ganglia disease
p.Gly451Glu Single submitter biotin-responsive basal ganglia disease ⚠
p.His221Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile207Met Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile314Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile36Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile460dup Single submitter Inborn genetic diseases
p.Leu161= Single submitter biotin-responsive basal ganglia disease
p.Leu188Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu385Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys208Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Met384Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe112Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe186Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe287= Single submitter biotin-responsive basal ganglia disease
p.Phe352Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro133= Single submitter biotin-responsive basal ganglia disease
p.Ser155Leu Single submitter ⚠
p.Ser168del Single submitter biotin-responsive basal ganglia disease
p.Ser204Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser382Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser457Asn Single submitter Inborn genetic diseases ⚠
p.Ser89Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Val109Ile Single submitter Inborn genetic diseases ⚠
p.Val139Glu Single submitter biotin-responsive basal ganglia disease ⚠
p.Val146Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val448Ala Single submitter biotin-responsive basal ganglia disease ⚠
p.Val481Met Single submitter biotin-responsive basal ganglia disease ⚠

Benign 59

c.1173-47C>T Multiple submitters
c.1314+121C>A Multiple submitters
c.150+198A>G Multiple submitters
c.150+203A>C Multiple submitters
c.979+42G>C Multiple submitters
c.979+93G>A Multiple submitters
c.980-40dup Multiple submitters
c.980-4del Multiple submitters biotin-responsive basal ganglia disease
c.-2-10A>G Multiple submitters biotin-responsive basal ganglia disease
c.-2-224G>T Multiple submitters
c.-2-62G>A Multiple submitters
c.-2-76del Multiple submitters
c.*1000A>G Multiple submitters biotin-responsive basal ganglia disease
c.*1090G>A Multiple submitters biotin-responsive basal ganglia disease
c.*1427T>C Multiple submitters biotin-responsive basal ganglia disease
c.*1684A>G Multiple submitters biotin-responsive basal ganglia disease
c.*1740G>C Multiple submitters biotin-responsive basal ganglia disease
c.*1800C>T Multiple submitters biotin-responsive basal ganglia disease
c.*1813A>G Multiple submitters biotin-responsive basal ganglia disease
c.*1815A>C Multiple submitters biotin-responsive basal ganglia disease
c.*1839G>A Multiple submitters biotin-responsive basal ganglia disease
c.*1953G>A Multiple submitters biotin-responsive basal ganglia disease
c.*1963C>T Multiple submitters biotin-responsive basal ganglia disease
c.*1974G>T Multiple submitters biotin-responsive basal ganglia disease
c.*1996T>C Multiple submitters biotin-responsive basal ganglia disease
c.*203C>T Multiple submitters biotin-responsive basal ganglia disease
c.*2109C>T Multiple submitters biotin-responsive basal ganglia disease
c.*2130T>C Multiple submitters biotin-responsive basal ganglia disease
c.*2132T>C Multiple submitters biotin-responsive basal ganglia disease
p.Ala183= Multiple submitters biotin-responsive basal ganglia disease
p.Ser145= Multiple submitters biotin-responsive basal ganglia disease
p.Val174Ile Multiple submitters biotin-responsive basal ganglia disease
p.Val350Ala Multiple submitters biotin-responsive basal ganglia disease
c.1172+196A>T Single submitter
c.1172+209A>G Single submitter
c.1172+273_1172+277del Single submitter
c.1172+273A>G Single submitter
c.1314+173G>A Single submitter
c.1315-123C>T Single submitter
c.150+1229C>T Single submitter
c.151-311T>A Single submitter
c.979+182A>G Single submitter
c.979+213G>A Single submitter
c.979+279_979+282del Single submitter
c.980-205G>A Single submitter
c.980-235G>A Single submitter
c.980-246G>A Single submitter
c.980-5_980-4del Single submitter biotin-responsive basal ganglia disease
c.-2-4020G>A Single submitter
c.-2-4439G>A Single submitter
c.*115C>G Single submitter biotin-responsive basal ganglia disease
c.*1696G>T Single submitter biotin-responsive basal ganglia disease
c.*1792C>T Single submitter biotin-responsive basal ganglia disease
c.*1925A>G Single submitter biotin-responsive basal ganglia disease
c.*2104T>C Single submitter biotin-responsive basal ganglia disease
c.*506C>T Single submitter biotin-responsive basal ganglia disease
c.*803G>A Single submitter biotin-responsive basal ganglia disease
p.Ala323Gly Single submitter biotin-responsive basal ganglia disease
p.Val174= Single submitter biotin-responsive basal ganglia disease

Benign/Likely benign 9

c.979+19A>G Multiple submitters biotin-responsive basal ganglia disease
c.*103C>A Multiple submitters biotin-responsive basal ganglia disease
p.Gly141Ser Multiple submitters biotin-responsive basal ganglia disease
p.Ile378Val Multiple submitters biotin-responsive basal ganglia disease
p.Leu252= Multiple submitters biotin-responsive basal ganglia disease
p.Pro33= Multiple submitters biotin-responsive basal ganglia disease
p.Tyr14= Multiple submitters biotin-responsive basal ganglia disease
p.Val103= Multiple submitters biotin-responsive basal ganglia disease
p.Val182= Multiple submitters biotin-responsive basal ganglia disease

Likely benign 216

c.1314+11A>G Multiple submitters biotin-responsive basal ganglia disease
c.1315-64G>A Multiple submitters
c.150+233G>A Multiple submitters
c.979+105G>A Multiple submitters
c.979+11G>A Multiple submitters biotin-responsive basal ganglia disease
c.979+15C>T Multiple submitters biotin-responsive basal ganglia disease
c.979+9A>G Multiple submitters biotin-responsive basal ganglia disease
c.-2-3996A>T Multiple submitters
c.*1094C>T Multiple submitters biotin-responsive basal ganglia disease
c.*231G>A Multiple submitters biotin-responsive basal ganglia disease
c.*975G>T Multiple submitters biotin-responsive basal ganglia disease
p.Ala122= Multiple submitters biotin-responsive basal ganglia disease
p.Ala165= Multiple submitters biotin-responsive basal ganglia disease
p.Ala307= Multiple submitters biotin-responsive basal ganglia disease
p.Asn173= Multiple submitters biotin-responsive basal ganglia disease
p.Asn368= Multiple submitters biotin-responsive basal ganglia disease
p.Asp260Val Multiple submitters biotin-responsive basal ganglia disease
p.Ser129= Multiple submitters biotin-responsive basal ganglia disease
p.Ser155= Multiple submitters biotin-responsive basal ganglia disease
p.Ser239= Multiple submitters biotin-responsive basal ganglia disease
p.Thr117= Multiple submitters biotin-responsive basal ganglia disease
p.Val319= Multiple submitters biotin-responsive basal ganglia disease
p.Val329= Multiple submitters biotin-responsive basal ganglia disease
c.1172+14A>G Single submitter biotin-responsive basal ganglia disease
c.1172+227A>G Single submitter
c.1172+9T>A Single submitter biotin-responsive basal ganglia disease
c.1173-12G>A Single submitter biotin-responsive basal ganglia disease
c.1173-14A>G Single submitter biotin-responsive basal ganglia disease
c.1173-17T>C Single submitter biotin-responsive basal ganglia disease
c.1173-19T>A Single submitter biotin-responsive basal ganglia disease
c.1173-4A>G Single submitter biotin-responsive basal ganglia disease
c.1173-6T>C Single submitter biotin-responsive basal ganglia disease
c.1173-8A>G Single submitter biotin-responsive basal ganglia disease
c.1314+20T>C Single submitter biotin-responsive basal ganglia disease
c.1314+7T>C Single submitter biotin-responsive basal ganglia disease
c.1314+8G>A Single submitter biotin-responsive basal ganglia disease
c.1314+9C>T Single submitter biotin-responsive basal ganglia disease
c.1315-14T>C Single submitter biotin-responsive basal ganglia disease
c.1315-16A>G Single submitter biotin-responsive basal ganglia disease
c.1315-5T>C Single submitter biotin-responsive basal ganglia disease
c.1315-7T>C Single submitter biotin-responsive basal ganglia disease
c.150+11A>G Single submitter biotin-responsive basal ganglia disease
c.150+12T>C Single submitter biotin-responsive basal ganglia disease
c.150+15A>G Single submitter biotin-responsive basal ganglia disease
c.150+19A>G Single submitter biotin-responsive basal ganglia disease
c.151-17A>G Single submitter biotin-responsive basal ganglia disease
c.151-20G>C Single submitter biotin-responsive basal ganglia disease
c.151-36G>T Single submitter
c.151-6T>C Single submitter biotin-responsive basal ganglia disease
c.151-7T>C Single submitter biotin-responsive basal ganglia disease
c.151-8C>T Single submitter biotin-responsive basal ganglia disease
c.979+10T>C Single submitter biotin-responsive basal ganglia disease
c.979+15C>G Single submitter biotin-responsive basal ganglia disease
c.979+292G>A Single submitter
c.979+8A>C Single submitter biotin-responsive basal ganglia disease
c.980-10T>C Single submitter biotin-responsive basal ganglia disease
c.980-10T>G Single submitter biotin-responsive basal ganglia disease
c.980-14A>T Single submitter biotin-responsive basal ganglia disease
c.980-15A>G Single submitter biotin-responsive basal ganglia disease
c.980-19C>T Single submitter biotin-responsive basal ganglia disease
c.980-21_980-17dup Single submitter biotin-responsive basal ganglia disease
c.980-46G>T Single submitter
c.980-7T>C Single submitter biotin-responsive basal ganglia disease
c.980-8T>C Single submitter biotin-responsive basal ganglia disease
c.980-9T>G Single submitter biotin-responsive basal ganglia disease
c.-17C>T Single submitter
c.-3+142T>G Single submitter
c.-60C>T Single submitter biotin-responsive basal ganglia disease
c.-6G>T Single submitter
c.*1859C>T Single submitter biotin-responsive basal ganglia disease
c.*1995G>A Single submitter biotin-responsive basal ganglia disease
c.*348A>C Single submitter biotin-responsive basal ganglia disease
c.*499C>T Single submitter biotin-responsive basal ganglia disease
p.Ala118= Single submitter biotin-responsive basal ganglia disease
p.Ala119= Single submitter biotin-responsive basal ganglia disease
p.Ala125= Single submitter biotin-responsive basal ganglia disease
p.Ala149= Single submitter biotin-responsive basal ganglia disease
p.Ala153= Single submitter biotin-responsive basal ganglia disease
p.Ala178= Single submitter biotin-responsive basal ganglia disease
p.Ala225= Single submitter biotin-responsive basal ganglia disease
p.Ala290= Single submitter biotin-responsive basal ganglia disease
p.Ala330= Single submitter biotin-responsive basal ganglia disease
p.Ala331= Single submitter biotin-responsive basal ganglia disease
p.Ala333= Single submitter biotin-responsive basal ganglia disease
p.Ala357= Single submitter biotin-responsive basal ganglia disease
p.Ala367= Single submitter biotin-responsive basal ganglia disease
p.Ala371= Single submitter biotin-responsive basal ganglia disease
p.Ala390= Single submitter biotin-responsive basal ganglia disease
p.Arg78= Single submitter biotin-responsive basal ganglia disease
p.Asn256= Single submitter biotin-responsive basal ganglia disease
p.Asn340= Single submitter biotin-responsive basal ganglia disease
p.Asn356= Single submitter biotin-responsive basal ganglia disease
p.Asn399= Single submitter biotin-responsive basal ganglia disease
p.Asn410= Single submitter biotin-responsive basal ganglia disease
p.Asn489= Single submitter biotin-responsive basal ganglia disease
p.Asp260= Single submitter biotin-responsive basal ganglia disease
p.Asp469= Single submitter biotin-responsive basal ganglia disease
p.Asp480= Single submitter biotin-responsive basal ganglia disease
p.Cys272= Single submitter biotin-responsive basal ganglia disease
p.Gln248= Single submitter biotin-responsive basal ganglia disease
p.Gln418= Single submitter biotin-responsive basal ganglia disease
p.Glu110= Single submitter biotin-responsive basal ganglia disease
p.Glu230= Single submitter biotin-responsive basal ganglia disease
p.Glu487= Single submitter biotin-responsive basal ganglia disease
p.Gly102= Single submitter biotin-responsive basal ganglia disease
p.Gly223= Single submitter biotin-responsive basal ganglia disease
p.Gly23= Single submitter biotin-responsive basal ganglia disease
p.Gly317= Single submitter biotin-responsive basal ganglia disease
p.Gly327= Single submitter biotin-responsive basal ganglia disease
p.Gly335= Single submitter biotin-responsive basal ganglia disease
p.Gly41= Single submitter
p.Gly443= Single submitter biotin-responsive basal ganglia disease
p.His135= Single submitter biotin-responsive basal ganglia disease
p.His221= Single submitter biotin-responsive basal ganglia disease
p.His483= Single submitter biotin-responsive basal ganglia disease
p.Ile18= Single submitter biotin-responsive basal ganglia disease
p.Ile301Val Single submitter biotin-responsive basal ganglia disease
p.Ile314= Single submitter biotin-responsive basal ganglia disease
p.Ile409= Single submitter biotin-responsive basal ganglia disease
p.Ile424= Single submitter biotin-responsive basal ganglia disease
p.Ile449= Single submitter biotin-responsive basal ganglia disease
p.Ile460= Single submitter biotin-responsive basal ganglia disease
p.Leu160= Single submitter biotin-responsive basal ganglia disease
p.Leu172= Single submitter biotin-responsive basal ganglia disease
p.Leu185= Single submitter
p.Leu188= Single submitter biotin-responsive basal ganglia disease
p.Leu19= Single submitter biotin-responsive basal ganglia disease
p.Leu21= Single submitter biotin-responsive basal ganglia disease
p.Leu217= Single submitter biotin-responsive basal ganglia disease
p.Leu238= Single submitter biotin-responsive basal ganglia disease
p.Leu244= Single submitter biotin-responsive basal ganglia disease
p.Leu249= Single submitter biotin-responsive basal ganglia disease
p.Leu269= Single submitter biotin-responsive basal ganglia disease
p.Leu283= Single submitter biotin-responsive basal ganglia disease
p.Leu302= Single submitter biotin-responsive basal ganglia disease
p.Leu35= Single submitter biotin-responsive basal ganglia disease
p.Leu360= Single submitter biotin-responsive basal ganglia disease
p.Leu377= Single submitter biotin-responsive basal ganglia disease
p.Leu39= Single submitter biotin-responsive basal ganglia disease
p.Leu415= Single submitter biotin-responsive basal ganglia disease
p.Leu433= Single submitter biotin-responsive basal ganglia disease
p.Leu496= Single submitter biotin-responsive basal ganglia disease
p.Leu64= Single submitter biotin-responsive basal ganglia disease
p.Leu66= Single submitter biotin-responsive basal ganglia disease
p.Leu8= Single submitter biotin-responsive basal ganglia disease
p.Leu85= Single submitter biotin-responsive basal ganglia disease
p.Leu97= Single submitter biotin-responsive basal ganglia disease
p.Lys194= Single submitter biotin-responsive basal ganglia disease
p.Lys380= Single submitter biotin-responsive basal ganglia disease
p.Phe170= Single submitter biotin-responsive basal ganglia disease
p.Phe184= Single submitter biotin-responsive basal ganglia disease
p.Phe262= Single submitter biotin-responsive basal ganglia disease
p.Phe34= Single submitter biotin-responsive basal ganglia disease
p.Phe379= Single submitter biotin-responsive basal ganglia disease
p.Phe412= Single submitter biotin-responsive basal ganglia disease
p.Pro15= Single submitter biotin-responsive basal ganglia disease
p.Pro215= Single submitter biotin-responsive basal ganglia disease
p.Pro308= Single submitter biotin-responsive basal ganglia disease
p.Pro37= Single submitter biotin-responsive basal ganglia disease
p.Pro434= Single submitter biotin-responsive basal ganglia disease
p.Pro475= Single submitter biotin-responsive basal ganglia disease
p.Pro57= Single submitter biotin-responsive basal ganglia disease
p.Pro81= Single submitter biotin-responsive basal ganglia disease
p.Ser140= Single submitter biotin-responsive basal ganglia disease
p.Ser168= Single submitter biotin-responsive basal ganglia disease
p.Ser181= Single submitter biotin-responsive basal ganglia disease
p.Ser212= Single submitter biotin-responsive basal ganglia disease
p.Ser235= Single submitter biotin-responsive basal ganglia disease
p.Ser241= Single submitter biotin-responsive basal ganglia disease
p.Ser255= Single submitter biotin-responsive basal ganglia disease
p.Ser26= Single submitter biotin-responsive basal ganglia disease
p.Ser275= Single submitter biotin-responsive basal ganglia disease
p.Ser381= Single submitter biotin-responsive basal ganglia disease
p.Ser466= Single submitter biotin-responsive basal ganglia disease
p.Ser488= Single submitter biotin-responsive basal ganglia disease
p.Ser62= Single submitter biotin-responsive basal ganglia disease
p.Ser7= Single submitter biotin-responsive basal ganglia disease
p.Thr152= Single submitter biotin-responsive basal ganglia disease
p.Thr220= Single submitter
p.Thr234= Single submitter biotin-responsive basal ganglia disease
p.Thr324= Single submitter biotin-responsive basal ganglia disease
p.Thr411= Single submitter biotin-responsive basal ganglia disease
p.Thr461= Single submitter biotin-responsive basal ganglia disease
p.Thr464= Single submitter biotin-responsive basal ganglia disease
p.Thr47= Single submitter biotin-responsive basal ganglia disease
p.Thr494= Single submitter biotin-responsive basal ganglia disease
p.Thr6= Single submitter biotin-responsive basal ganglia disease
p.Thr60= Single submitter biotin-responsive basal ganglia disease
p.Thr74= Single submitter biotin-responsive basal ganglia disease
p.Tyr123= Single submitter biotin-responsive basal ganglia disease
p.Tyr124= Single submitter biotin-responsive basal ganglia disease
p.Tyr126= Single submitter biotin-responsive basal ganglia disease
p.Tyr171= Single submitter biotin-responsive basal ganglia disease
p.Tyr273= Single submitter biotin-responsive basal ganglia disease
p.Tyr298= Single submitter biotin-responsive basal ganglia disease
p.Tyr4= Single submitter biotin-responsive basal ganglia disease
p.Tyr445= Single submitter biotin-responsive basal ganglia disease
p.Tyr61= Single submitter biotin-responsive basal ganglia disease
p.Tyr76= Single submitter biotin-responsive basal ganglia disease
p.Val108= Single submitter biotin-responsive basal ganglia disease
p.Val109= Single submitter biotin-responsive basal ganglia disease
p.Val121= Single submitter biotin-responsive basal ganglia disease
p.Val130= Single submitter biotin-responsive basal ganglia disease
p.Val139= Single submitter biotin-responsive basal ganglia disease
p.Val162= Single submitter biotin-responsive basal ganglia disease
p.Val213= Single submitter biotin-responsive basal ganglia disease
p.Val216= Single submitter biotin-responsive basal ganglia disease
p.Val257= Single submitter biotin-responsive basal ganglia disease
p.Val334= Single submitter biotin-responsive basal ganglia disease
p.Val337= Single submitter biotin-responsive basal ganglia disease
p.Val350= Single submitter
p.Val351= Single submitter biotin-responsive basal ganglia disease
p.Val470= Single submitter biotin-responsive basal ganglia disease
p.Val70= Single submitter biotin-responsive basal ganglia disease
p.Val77= Single submitter biotin-responsive basal ganglia disease
p.Ala447= No assertion criteria SLC19A3-related disorder

Uncertain significance 285

c.150+1143C>G Multiple submitters Spastic paraplegia
p.Ala119Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala125Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala150Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala165Glu Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala165Pro Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala178Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala288Pro Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ala288Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala307Pro Multiple submitters Inborn genetic diseases
p.Ala328Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Arg138Gly Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Arg402Gly Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Asn173Ser Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Asn340Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp2Asn Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Asp342Asn Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Asp480Gly Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Gln471Arg Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Glu134Lys Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Glu346Asp Multiple submitters biotin-responsive basal ganglia disease
p.Gly154Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly227Ser Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Gly326Val Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Gly327Glu Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Gly87Cys Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ile389Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ile452Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ile51Val Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ile92Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Leu177Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu35Phe Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Leu405Phe Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Leu73Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys246Asn Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Met197Ile Multiple submitters biotin-responsive basal ganglia disease
p.Met421Leu Multiple submitters Inborn genetic diseases ⚠
p.Met455Arg Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Phe184Ser Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Pro133Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro203Ser Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Pro233Ala Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Pro254Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro308Leu Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Pro33Leu Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Pro434Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro81Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser163Phe Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ser163Tyr Multiple submitters ⚠
p.Ser436Arg Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Ser488Thr Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Thr289Ala Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Trp59Arg Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr128Cys Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr128His Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr298Asp Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr305Cys Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr373Cys Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Tyr63His Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val156Met Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val182Met Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val319Ile Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val470Gly Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val481Ala Multiple submitters biotin-responsive basal ganglia disease ⚠
p.Val58Ile Multiple submitters biotin-responsive basal ganglia disease ⚠
c.1173-7A>G Single submitter
c.1314+3A>G Single submitter biotin-responsive basal ganglia disease
c.151-5T>G Single submitter biotin-responsive basal ganglia disease
c.-2-11C>A Single submitter biotin-responsive basal ganglia disease
c.-52T>C Single submitter biotin-responsive basal ganglia disease
c.*1003G>T Single submitter biotin-responsive basal ganglia disease
c.*1044G>A Single submitter biotin-responsive basal ganglia disease
c.*1059C>G Single submitter biotin-responsive basal ganglia disease
c.*106A>G Single submitter biotin-responsive basal ganglia disease
c.*1072A>C Single submitter biotin-responsive basal ganglia disease
c.*1104T>C Single submitter biotin-responsive basal ganglia disease
c.*1121G>A Single submitter biotin-responsive basal ganglia disease
c.*1207C>T Single submitter biotin-responsive basal ganglia disease
c.*1256C>T Single submitter biotin-responsive basal ganglia disease
c.*1264A>G Single submitter biotin-responsive basal ganglia disease
c.*1320C>T Single submitter biotin-responsive basal ganglia disease
c.*1339C>T Single submitter biotin-responsive basal ganglia disease
c.*1355G>A Single submitter biotin-responsive basal ganglia disease
c.*1463G>A Single submitter biotin-responsive basal ganglia disease
c.*1517T>C Single submitter biotin-responsive basal ganglia disease
c.*1630G>T Single submitter biotin-responsive basal ganglia disease
c.*176A>G Single submitter biotin-responsive basal ganglia disease
c.*1818T>A Single submitter biotin-responsive basal ganglia disease
c.*1842T>A Single submitter biotin-responsive basal ganglia disease
c.*1889T>C Single submitter biotin-responsive basal ganglia disease
c.*1905G>A Single submitter biotin-responsive basal ganglia disease
c.*2033A>G Single submitter biotin-responsive basal ganglia disease
c.*204G>A Single submitter biotin-responsive basal ganglia disease
c.*2050C>T Single submitter biotin-responsive basal ganglia disease
c.*2129A>G Single submitter biotin-responsive basal ganglia disease
c.*2139G>A Single submitter biotin-responsive basal ganglia disease
c.*2159G>A Single submitter biotin-responsive basal ganglia disease
c.*289A>G Single submitter biotin-responsive basal ganglia disease
c.*300G>A Single submitter biotin-responsive basal ganglia disease
c.*33A>G Single submitter biotin-responsive basal ganglia disease
c.*570T>A Single submitter biotin-responsive basal ganglia disease
c.*575G>A Single submitter biotin-responsive basal ganglia disease
c.*59T>C Single submitter biotin-responsive basal ganglia disease
c.*685G>A Single submitter biotin-responsive basal ganglia disease
c.*713C>T Single submitter biotin-responsive basal ganglia disease
c.*778G>C Single submitter biotin-responsive basal ganglia disease
c.*924C>T Single submitter biotin-responsive basal ganglia disease
p.Ala119Ser Single submitter ⚠
p.Ala119Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala122_Tyr126del Single submitter biotin-responsive basal ganglia disease
p.Ala150Pro Single submitter ⚠
p.Ala153Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala158Thr Single submitter ⚠
p.Ala290Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala307Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala321Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala330Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala333Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala333Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala357Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala357Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala357Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala395Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala395Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Ala450Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Arg138Ser Single submitter ⚠
p.Arg402His Single submitter biotin-responsive basal ganglia disease ⚠
p.Arg78Cys Single submitter biotin-responsive basal ganglia disease ⚠
p.Arg78His Single submitter biotin-responsive basal ganglia disease ⚠
p.Asn256Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Asn316Lys Single submitter biotin-responsive basal ganglia disease ⚠
p.Asn316Ser Single submitter ⚠
p.Asn368Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Asn53Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp260Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp311Tyr Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp427Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp43Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Asp469Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Cys20Ser Single submitter ⚠
p.Cys20Tyr Single submitter biotin-responsive basal ganglia disease ⚠
p.Cys372Trp Single submitter biotin-responsive basal ganglia disease ⚠
p.Cys372Tyr Single submitter biotin-responsive basal ganglia disease ⚠
p.Gln294Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Gln393Arg Single submitter Inborn genetic diseases ⚠
p.Gln418Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Glu110Lys Single submitter ⚠
p.Glu120Lys Single submitter ⚠
p.Glu134Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Glu224Lys Single submitter biotin-responsive basal ganglia disease ⚠
p.Glu320Ala Single submitter ⚠
p.Glu320Lys Single submitter ⚠
p.Glu486Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Gly141Cys Single submitter biotin-responsive basal ganglia disease ⚠
p.Gly154Arg Single submitter ⚠
p.Gly227Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Gly345Glu Single submitter Inborn genetic diseases ⚠
p.Gly358Asp Single submitter biotin-responsive basal ganglia disease ⚠
p.Gly443Val Single submitter biotin-responsive basal ganglia disease ⚠
p.His135Arg Single submitter ⚠
p.His135Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.His364Tyr Single submitter biotin-responsive basal ganglia disease ⚠
p.His483Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.His483fs Single submitter biotin-responsive basal ganglia disease
p.Ile13Met Single submitter ⚠
p.Ile175Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile18Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile237Thr Single submitter ⚠
p.Ile409Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile420Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile437Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile460Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile460Val Single submitter ⚠
p.Ile51Met Single submitter biotin-responsive basal ganglia disease ⚠
p.Ile91Val Single submitter ⚠
p.Leu160Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu161Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu164Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu185Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu238Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu302Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu385Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu398Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu415Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu440Val Single submitter ⚠
p.Leu46Pro Single submitter biotin-responsive basal ganglia disease ⚠
p.Leu67fs Single submitter
p.Leu68Pro Single submitter ⚠
p.Leu68Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys104Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys194Asn Single submitter Inborn genetic diseases ⚠
p.Lys202Arg Single submitter Inborn genetic diseases ⚠
p.Lys208Gln Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys208Glu Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys246Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys276Gln Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys306Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Lys495fs Single submitter biotin-responsive basal ganglia disease
p.Met106Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Met167Lys Single submitter ⚠
p.Met167Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Met192Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Met28del Single submitter biotin-responsive basal ganglia disease
p.Met28Ile Single submitter biotin-responsive basal ganglia disease
p.Met363Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Met384Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Met421Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Met455Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Met455Thr Single submitter Inborn genetic diseases ⚠
p.Met458fs Single submitter biotin-responsive basal ganglia disease
p.Met492Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe112Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe186Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe25Leu Single submitter Inborn genetic diseases ⚠
p.Phe262Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe279Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe287Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe292= Single submitter biotin-responsive basal ganglia disease
p.Phe34Val Single submitter biotin-responsive basal ganglia disease ⚠
p.Phe56Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro193Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro215Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro30Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro37Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro484Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro484Ser Single submitter Inborn genetic diseases ⚠
p.Pro57Thr Single submitter biotin-responsive basal ganglia disease ⚠
p.Pro69Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser132Arg Single submitter biotin-responsive basal ganglia disease
p.Ser140Arg Single submitter Inborn genetic diseases ⚠
p.Ser168Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser181Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser196Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser196Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser204Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser212Arg Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser239Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser251Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser251Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser251Ile Single submitter ⚠
p.Ser457Lys Single submitter biotin-responsive basal ganglia disease
p.Ser482Leu Single submitter biotin-responsive basal ganglia disease
p.Ser62Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser9Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Thr240Pro Single submitter ⚠
p.Thr411Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Thr419Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Thr461Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Thr494Ala Single submitter Inborn genetic diseases ⚠
p.Thr6Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Thr6Ser Single submitter biotin-responsive basal ganglia disease ⚠
p.Tyr123Cys Single submitter biotin-responsive basal ganglia disease ⚠
p.Tyr136His Single submitter biotin-responsive basal ganglia disease ⚠
p.Tyr298Cys Single submitter biotin-responsive basal ganglia disease ⚠
p.Tyr383Cys Single submitter ⚠
p.Tyr38Cys Single submitter ⚠
p.Tyr459Cys Single submitter Inborn genetic diseases ⚠
p.Tyr4Asn Single submitter biotin-responsive basal ganglia disease ⚠
p.Tyr79Phe Single submitter
p.Val103Met Single submitter ⚠
p.Val109Ala Single submitter ⚠
p.Val116Gly Single submitter biotin-responsive basal ganglia disease ⚠
p.Val116Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val130Met Single submitter biotin-responsive basal ganglia disease ⚠
p.Val156Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Val162Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val180Ala Single submitter biotin-responsive basal ganglia disease ⚠
p.Val182Glu Single submitter Inborn genetic diseases
p.Val213Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Val216Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Val257Met Single submitter biotin-responsive basal ganglia disease ⚠
p.Val261Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val295Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val299Ala Single submitter ⚠
p.Val319Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Val339Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val351Asp Single submitter
p.Val351Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Val406Ala Single submitter biotin-responsive basal ganglia disease ⚠
p.Val406Ile Single submitter biotin-responsive basal ganglia disease ⚠
p.Val481Leu Single submitter ⚠
p.Val58Phe Single submitter biotin-responsive basal ganglia disease ⚠
p.Val65fs Single submitter biotin-responsive basal ganglia disease
p.Val65Leu Single submitter biotin-responsive basal ganglia disease ⚠
p.Ser40Pro No assertion criteria biotin-responsive basal ganglia disease