SLC6A3 — 550 ClinVar variants

All ClinVar germline SLC6A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

9 Pathogenic · 11 Likely pathogenic · 12 Conflicting · 71 Benign · 12 Benign/Likely benign · 268 Likely benign · 167 Uncertain significance

Full SLC6A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

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 7

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

SLC6A3 p.Ala559Val Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg521Trp Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg60Trp Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gln373Arg Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Leu167Phe Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Lys619Asn Conflicting Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Pro26Leu Conflicting Single submitter
parkinsonism-dystonia, infantile

Predictors lean, ClinVar uncertain 122

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

SLC6A3 p.Ala308Val Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Ala346Val Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Ala565Ser Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Ala57Val Uncertain significance Multiple submitters
SLC6A3 p.Arg304Gln Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Arg51Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Arg588Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Arg610His Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Glu28Gln Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Glu589Val Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Glu602Gly Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Gly195Val Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Gly481Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.His547Asn Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Ile508Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Lys27Asn Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Lys579Arg Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Met11Ile Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Pro194Ser Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Pro236Leu Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Pro50Leu Uncertain significance Multiple submitters
tobacco addiction, susceptibility to
SLC6A3 p.Ser12Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Ser198Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Ser202Trp Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Thr144Met Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Thr356Met Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Trp617Ser Uncertain significance Multiple submitters
classic dopamine transporter deficiency syndrome
SLC6A3 p.Val158Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Val24Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Val24Met Uncertain significance Multiple submitters
classic dopamine transporter deficiency syndrome
SLC6A3 p.Val300Ile Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Val348Leu Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Val535Met Uncertain significance Multiple submitters
tobacco addiction, susceptibility to
SLC6A3 p.Val55Met Uncertain significance Multiple submitters
parkinsonism-dystonia, infantile
SLC6A3 p.Val73Ile Uncertain significance Multiple submitters
classic dopamine transporter deficiency syndrome
SLC6A3 p.Ala16Gly Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Ala16Ser Uncertain significance Single submitter
SLC6A3 p.Ala192Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala214Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala296Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala331Pro Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Ala406Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala455Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala550Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala559Gly Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala559Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala592Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ala594Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Arg295Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Arg445His Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Arg51Trp Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg606Lys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg60Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Asn185Ser Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asn188Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Asn22Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Asp196Asn Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asp206His Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asp292Glu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asp555Asn Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gln122His Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gln509His Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Glu126Gln Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Glu20Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Glu20Val Uncertain significance Single submitter
hereditary ataxia
SLC6A3 p.Glu598Lys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly140Arg Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly153Ser Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly209Arg Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly209Trp Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly234Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly361Ser Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly380Arg Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly468Val Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Gly487Arg Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly502Arg Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Gly561Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Gly96Ser Uncertain significance Single submitter
SLC6A3 p.His165Tyr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.His547Gln Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.His547Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Ile137Met Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Ile137Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ile248Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ile413Val Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Ile435Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ile540Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ile540Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ile595Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Leu104Ile Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Leu150Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Leu250Met Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Leu518Val Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Met11Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Phe362Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Phe534Cys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Pro17Gln Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Pro545Ser Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ser190Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ser202Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ser299Gly Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ser2Gly Uncertain significance Single submitter
SLC6A3 p.Ser333Ala Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Ser351Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Ser72Phe Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Thr173Met Uncertain significance Single submitter
SLC6A3 p.Thr286Ile Uncertain significance Single submitter
SLC6A3 p.Thr48Ser Uncertain significance Single submitter
SLC6A3 p.Tyr166Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Tyr470Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Val14Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val259Met Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Val363Ile Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val363Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val364Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Val364Ile Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val471Ile Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val55Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val609Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val620Met Uncertain significance Single submitter
SLC6A3 p.Val83Ile Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val8Met Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 24

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

SLC6A3 p.Val537Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC6A3 p.Ala346Thr Likely benign Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg219Cys Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Arg219His Uncertain significance Single submitter
classic dopamine transporter deficiency syndrome
SLC6A3 p.Arg219Ser Uncertain significance Single submitter
SLC6A3 p.Arg237Trp Uncertain significance Single submitter
SLC6A3 p.Arg515Gln Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Arg610Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Arg615Cys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asn38Lys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asp292Gly Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Asp600Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Glu437Asp Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Gly94Ser Uncertain significance Single submitter
SLC6A3 p.Ile312Thr Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Leu240Val Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Met371Leu Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Met427Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC6A3 p.Ser460Cys Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Thr613Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val221Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val275Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val324Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile
SLC6A3 p.Val409Met Uncertain significance Single submitter
parkinsonism-dystonia, infantile

All SLC6A3 variants

Pathogenic 9

c.1269+1G>A Multiple submitters parkinsonism-dystonia, infantile
p.Arg588Ter Single submitter parkinsonism-dystonia, infantile
p.Cys463Ter Single submitter
p.Cys523_Phe531delinsTer Single submitter classic dopamine transporter deficiency syndrome
p.Phe114fs Single submitter parkinsonism-dystonia, infantile
p.Tyr297_Leu298insTer Single submitter parkinsonism-dystonia, infantile
p.Leu224Pro No assertion criteria classic dopamine transporter deficiency syndrome
p.Leu368Gln No assertion criteria classic dopamine transporter deficiency syndrome
p.Pro395Leu No assertion criteria classic dopamine transporter deficiency syndrome

Likely pathogenic 11

c.1031+1G>A Single submitter parkinsonism-dystonia, infantile
c.1032-1G>C Single submitter parkinsonism-dystonia, infantile
c.1398+5G>A Single submitter classic dopamine transporter deficiency syndrome
c.1767+2T>C Single submitter parkinsonism-dystonia, infantile
p.Ala314Val Single submitter SLC6A3-related disorder
p.Ala570fs Single submitter classic dopamine transporter deficiency syndrome
p.Arg85Trp Single submitter
p.Gly386Arg Single submitter parkinsonism-dystonia, infantile
p.His547fs Single submitter
p.Trp63Ter Single submitter SLC6A3-related disorder
c.1767+2_1767+3del No assertion criteria SLC6A3-related disorder

Conflicting classifications of pathogenicity 12

c.1157-15C>T Single submitter parkinsonism-dystonia, infantile
p.Ala480= Single submitter parkinsonism-dystonia, infantile
p.Ala559Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Arg521Trp Single submitter parkinsonism-dystonia, infantile ⚠
p.Arg60Trp Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp385= Single submitter Inborn genetic diseases
p.Gln373Arg Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly110= Single submitter parkinsonism-dystonia, infantile
p.Leu167Phe Single submitter parkinsonism-dystonia, infantile ⚠
p.Lys619Asn Single submitter parkinsonism-dystonia, infantile ⚠
p.Pro26Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser505= Single submitter parkinsonism-dystonia, infantile

Benign 71

c.1031+71G>T Multiple submitters classic dopamine transporter deficiency syndrome
c.1156+33C>T Multiple submitters
c.1269+102T>G Multiple submitters
c.1269+115C>T Multiple submitters
c.1270-109T>C Multiple submitters
c.1270-21G>A Multiple submitters
c.1270-56A>G Multiple submitters
c.1398+117G>A Multiple submitters
c.1398+95C>T Multiple submitters
c.1399-242G>A Multiple submitters
c.1498+14A>G Multiple submitters parkinsonism-dystonia, infantile
c.1499-95G>A Multiple submitters
c.1600-40C>T Multiple submitters
c.1768-279G>A Multiple submitters
c.286+20C>G Multiple submitters parkinsonism-dystonia, infantile
c.286+40C>T Multiple submitters
c.286+48G>A Multiple submitters
c.286+53G>T Multiple submitters
c.418+38C>T Multiple submitters
c.419-12C>A Multiple submitters parkinsonism-dystonia, infantile
c.419-63C>T Multiple submitters
c.419-68G>A Multiple submitters
c.653+27C>T Multiple submitters
c.927+208G>A Multiple submitters
c.927+302A>T Multiple submitters
c.927+96G>C Multiple submitters
c.928-330C>T Multiple submitters
c.-45-141C>T Multiple submitters
c.*250G>C Multiple submitters
c.*328G>A Multiple submitters
c.*35T>C Multiple submitters classic dopamine transporter deficiency syndrome
c.*36G>A Multiple submitters
p.Ala577= Multiple submitters parkinsonism-dystonia, infantile
p.Asn38= Multiple submitters parkinsonism-dystonia, infantile
p.Asp345= Multiple submitters parkinsonism-dystonia, infantile
p.Gln509= Multiple submitters parkinsonism-dystonia, infantile
p.Ser405= Multiple submitters parkinsonism-dystonia, infantile
c.1032-18C>T Single submitter parkinsonism-dystonia, infantile
c.1156+194G>T Single submitter
c.1156+207A>C Single submitter
c.1156+231C>T Single submitter
c.1156+245C>A Single submitter
c.1156+269C>T Single submitter
c.1156+292del Single submitter
c.1156+305T>C Single submitter
c.1156+55C>G Single submitter
c.1157-229G>A Single submitter
c.1269+12G>A Single submitter parkinsonism-dystonia, infantile
c.1269+17G>A Single submitter parkinsonism-dystonia, infantile
c.1498+10G>A Single submitter parkinsonism-dystonia, infantile
c.1498+162T>G Single submitter
c.1499-260C>T Single submitter
c.1600-282A>G Single submitter
c.1839+280C>T Single submitter
c.1839+98_1839+99insGGCTGGTGTAGACAG Single submitter
c.1839+9G>A Single submitter parkinsonism-dystonia, infantile
c.1840-204G>A Single submitter
c.1840-258C>T Single submitter
c.286+185G>A Single submitter
c.286+270G>A Single submitter
c.286+295C>G Single submitter
c.418+168G>A Single submitter
c.419-156dup Single submitter
c.419-3595A>T Single submitter schizophrenia
c.792+258C>T Single submitter
c.792+259G>A Single submitter
c.793-76C>T Single submitter
c.-45-246A>G Single submitter
c.-45-247G>A Single submitter
p.Ile379= Single submitter parkinsonism-dystonia, infantile
p.Phe534= Single submitter parkinsonism-dystonia, infantile

Benign/Likely benign 12

c.1399-11del Multiple submitters parkinsonism-dystonia, infantile
c.1767+13A>G Multiple submitters classic dopamine transporter deficiency syndrome
c.653+13C>T Multiple submitters parkinsonism-dystonia, infantile
p.Asn182= Multiple submitters parkinsonism-dystonia, infantile
p.Asn466= Multiple submitters parkinsonism-dystonia, infantile
p.Glu20= Multiple submitters parkinsonism-dystonia, infantile
p.Ile452= Multiple submitters parkinsonism-dystonia, infantile
p.Ile490= Multiple submitters classic dopamine transporter deficiency syndrome
p.Ile564= Multiple submitters parkinsonism-dystonia, infantile
p.Phe362= Multiple submitters parkinsonism-dystonia, infantile
p.Val464Ile Multiple submitters parkinsonism-dystonia, infantile
p.Val471= Multiple submitters parkinsonism-dystonia, infantile

Likely benign 268

c.1032-111C>T Multiple submitters
c.1032-138C>T Multiple submitters
c.1399-262G>A Multiple submitters
c.1599+12C>G Multiple submitters parkinsonism-dystonia, infantile
c.1768-76G>T Multiple submitters
c.1839+185G>A Multiple submitters
c.1840-7_1840-3dup Multiple submitters parkinsonism-dystonia, infantile
c.418+9C>T Multiple submitters parkinsonism-dystonia, infantile
c.419-109T>G Multiple submitters
c.419-5G>T Multiple submitters parkinsonism-dystonia, infantile
c.*190C>T Multiple submitters
p.Ala346= Multiple submitters parkinsonism-dystonia, infantile
p.Ala559= Multiple submitters parkinsonism-dystonia, infantile
p.Asn157= Multiple submitters parkinsonism-dystonia, infantile
p.Asn205= Multiple submitters parkinsonism-dystonia, infantile
p.Asp381= Multiple submitters parkinsonism-dystonia, infantile
p.Glu602= Multiple submitters parkinsonism-dystonia, infantile
p.Gly258= Multiple submitters parkinsonism-dystonia, infantile
p.His165= Multiple submitters parkinsonism-dystonia, infantile
p.Ile493= Multiple submitters parkinsonism-dystonia, infantile
p.Leu277= Multiple submitters parkinsonism-dystonia, infantile
p.Phe543= Multiple submitters parkinsonism-dystonia, infantile
p.Pro26= Multiple submitters parkinsonism-dystonia, infantile
p.Ser360= Multiple submitters parkinsonism-dystonia, infantile
p.Ser422= Multiple submitters parkinsonism-dystonia, infantile
p.Thr432= Multiple submitters parkinsonism-dystonia, infantile
p.Thr512= Multiple submitters parkinsonism-dystonia, infantile
p.Tyr166= Multiple submitters parkinsonism-dystonia, infantile
p.Val152= Multiple submitters parkinsonism-dystonia, infantile
p.Val363= Multiple submitters parkinsonism-dystonia, infantile
c.1031+17G>A Single submitter parkinsonism-dystonia, infantile
c.1032-14T>C Single submitter parkinsonism-dystonia, infantile
c.1032-17G>A Single submitter parkinsonism-dystonia, infantile
c.1032-20G>A Single submitter parkinsonism-dystonia, infantile
c.1032-20G>C Single submitter parkinsonism-dystonia, infantile
c.1032-242G>A Single submitter
c.1032-5T>C Single submitter parkinsonism-dystonia, infantile
c.1156+200_1156+237del Single submitter
c.1156+229C>T Single submitter
c.1156+238C>A Single submitter
c.1156+270G>T Single submitter
c.1156+276C>A Single submitter
c.1156+299T>C Single submitter
c.1156+9C>T Single submitter parkinsonism-dystonia, infantile
c.1157-17G>A Single submitter parkinsonism-dystonia, infantile
c.1157-20C>G Single submitter parkinsonism-dystonia, infantile
c.1269+11C>T Single submitter parkinsonism-dystonia, infantile
c.1269+12G>T Single submitter parkinsonism-dystonia, infantile
c.1269+16C>T Single submitter parkinsonism-dystonia, infantile
c.1269+20C>T Single submitter parkinsonism-dystonia, infantile
c.1270-10C>T Single submitter parkinsonism-dystonia, infantile
c.1270-12C>T Single submitter parkinsonism-dystonia, infantile
c.1270-19C>T Single submitter parkinsonism-dystonia, infantile
c.1270-4G>A Single submitter parkinsonism-dystonia, infantile
c.1398+12C>T Single submitter parkinsonism-dystonia, infantile
c.1398+13G>A Single submitter parkinsonism-dystonia, infantile
c.1398+13G>T Single submitter parkinsonism-dystonia, infantile
c.1398+16G>A Single submitter parkinsonism-dystonia, infantile
c.1398+5_1398+6dup Single submitter parkinsonism-dystonia, infantile
c.1399-11C>T Single submitter parkinsonism-dystonia, infantile
c.1399-18G>C Single submitter parkinsonism-dystonia, infantile
c.1399-19A>C Single submitter parkinsonism-dystonia, infantile
c.1399-19A>G Single submitter parkinsonism-dystonia, infantile
c.1498+10G>T Single submitter parkinsonism-dystonia, infantile
c.1498+14_1498+15insG Single submitter
c.1498+8C>T Single submitter parkinsonism-dystonia, infantile
c.1498+9G>A Single submitter
c.1499-12C>G Single submitter parkinsonism-dystonia, infantile
c.1499-14C>T Single submitter parkinsonism-dystonia, infantile
c.1499-185C>T Single submitter
c.1499-239C>T Single submitter
c.1599+13G>A Single submitter parkinsonism-dystonia, infantile
c.1599+9C>A Single submitter parkinsonism-dystonia, infantile
c.1600-137G>T Single submitter
c.1600-17G>A Single submitter parkinsonism-dystonia, infantile
c.1600-18C>T Single submitter parkinsonism-dystonia, infantile
c.1600-9_1600-8delinsCT Single submitter parkinsonism-dystonia, infantile
c.1767+14C>T Single submitter parkinsonism-dystonia, infantile
c.1767+15G>A Single submitter parkinsonism-dystonia, infantile
c.1767+16G>A Single submitter parkinsonism-dystonia, infantile
c.1767+19C>T Single submitter parkinsonism-dystonia, infantile
c.1767+20G>C Single submitter parkinsonism-dystonia, infantile
c.1767+280C>G Single submitter
c.1768-12T>C Single submitter parkinsonism-dystonia, infantile
c.1768-7C>T Single submitter parkinsonism-dystonia, infantile
c.1839+15C>T Single submitter parkinsonism-dystonia, infantile
c.1839+26TC[2] Single submitter
c.1839+8C>T Single submitter parkinsonism-dystonia, infantile
c.1839+9_1839+14del Single submitter parkinsonism-dystonia, infantile
c.1840-240G>A Single submitter
c.1840-68_1840-49del Single submitter
c.1840-8C>A Single submitter parkinsonism-dystonia, infantile
c.286+10A>T Single submitter parkinsonism-dystonia, infantile
c.286+16G>C Single submitter parkinsonism-dystonia, infantile
c.286+18C>T Single submitter parkinsonism-dystonia, infantile
c.286+8C>T Single submitter parkinsonism-dystonia, infantile
c.287-106G>A Single submitter
c.287-119G>A Single submitter
c.287-13T>C Single submitter parkinsonism-dystonia, infantile
c.287-16C>A Single submitter parkinsonism-dystonia, infantile
c.287-20G>C Single submitter parkinsonism-dystonia, infantile
c.287-5C>G Single submitter parkinsonism-dystonia, infantile
c.287-5C>T Single submitter parkinsonism-dystonia, infantile
c.287-6C>T Single submitter parkinsonism-dystonia, infantile
c.418+10G>A Single submitter parkinsonism-dystonia, infantile
c.418+14G>T Single submitter
c.418+16C>A Single submitter parkinsonism-dystonia, infantile
c.418+18C>T Single submitter parkinsonism-dystonia, infantile
c.418+213G>T Single submitter
c.418+7T>A Single submitter parkinsonism-dystonia, infantile
c.419-12C>G Single submitter parkinsonism-dystonia, infantile
c.419-16del Single submitter parkinsonism-dystonia, infantile
c.419-260A>G Single submitter
c.419-5G>A Single submitter parkinsonism-dystonia, infantile
c.419-6C>T Single submitter parkinsonism-dystonia, infantile
c.653+11G>A Single submitter parkinsonism-dystonia, infantile
c.653+12T>C Single submitter parkinsonism-dystonia, infantile
c.653+14G>A Single submitter parkinsonism-dystonia, infantile
c.653+17T>A Single submitter parkinsonism-dystonia, infantile
c.653+39C>A Single submitter
c.654-14A>G Single submitter parkinsonism-dystonia, infantile
c.654-17C>A Single submitter parkinsonism-dystonia, infantile
c.654-18G>A Single submitter parkinsonism-dystonia, infantile
c.654-60G>A Single submitter
c.654-75C>T Single submitter
c.654-8C>T Single submitter parkinsonism-dystonia, infantile
c.792+10G>A Single submitter parkinsonism-dystonia, infantile
c.792+12G>A Single submitter parkinsonism-dystonia, infantile
c.792+13G>A Single submitter parkinsonism-dystonia, infantile
c.792+18C>T Single submitter parkinsonism-dystonia, infantile
c.792+223C>A Single submitter
c.792+7C>T Single submitter parkinsonism-dystonia, infantile
c.792+9C>T Single submitter parkinsonism-dystonia, infantile
c.793-16C>G Single submitter parkinsonism-dystonia, infantile
c.793-7C>T Single submitter parkinsonism-dystonia, infantile
c.927+110G>C Single submitter
c.927+11T>A Single submitter parkinsonism-dystonia, infantile
c.927+8_927+9del Single submitter parkinsonism-dystonia, infantile
c.928-12C>G Single submitter parkinsonism-dystonia, infantile
c.928-16C>T Single submitter parkinsonism-dystonia, infantile
c.928-18C>T Single submitter parkinsonism-dystonia, infantile
c.928-19C>T Single submitter parkinsonism-dystonia, infantile
c.-45-101G>A Single submitter
c.-45-145C>T Single submitter
c.*235G>A Single submitter
c.*314TGCTCCC[1] Single submitter
p.Ala128= Single submitter parkinsonism-dystonia, infantile
p.Ala129Thr Single submitter parkinsonism-dystonia, infantile
p.Ala16= Single submitter parkinsonism-dystonia, infantile
p.Ala214= Single submitter parkinsonism-dystonia, infantile
p.Ala23= Single submitter parkinsonism-dystonia, infantile
p.Ala270= Single submitter parkinsonism-dystonia, infantile
p.Ala279= Single submitter parkinsonism-dystonia, infantile
p.Ala290= Single submitter parkinsonism-dystonia, infantile
p.Ala308= Single submitter parkinsonism-dystonia, infantile
p.Ala314= Single submitter parkinsonism-dystonia, infantile
p.Ala346Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala399= Single submitter parkinsonism-dystonia, infantile
p.Ala408= Single submitter
p.Ala455= Single submitter parkinsonism-dystonia, infantile
p.Ala576= Single submitter parkinsonism-dystonia, infantile
p.Ala592= Single submitter parkinsonism-dystonia, infantile
p.Ala77= Single submitter parkinsonism-dystonia, infantile
p.Arg125= Single submitter parkinsonism-dystonia, infantile
p.Arg237Gln Single submitter parkinsonism-dystonia, infantile
p.Arg445= Single submitter parkinsonism-dystonia, infantile
p.Arg60= Single submitter parkinsonism-dystonia, infantile
p.Arg601His Single submitter Inborn genetic diseases
p.Arg615His Single submitter parkinsonism-dystonia, infantile
p.Asn49= Single submitter parkinsonism-dystonia, infantile
p.Asn558= Single submitter parkinsonism-dystonia, infantile
p.Asn82= Single submitter parkinsonism-dystonia, infantile
p.Asp231= Single submitter parkinsonism-dystonia, infantile
p.Asp292= Single submitter parkinsonism-dystonia, infantile
p.Asp313= Single submitter parkinsonism-dystonia, infantile
p.Asp600Glu Single submitter Inborn genetic diseases
p.Cys306= Single submitter parkinsonism-dystonia, infantile
p.Gln226= Single submitter parkinsonism-dystonia, infantile
p.Glu28= Single submitter parkinsonism-dystonia, infantile
p.Glu56= Single submitter parkinsonism-dystonia, infantile
p.Glu598= Single submitter parkinsonism-dystonia, infantile
p.Gly220= Single submitter parkinsonism-dystonia, infantile
p.Gly323= Single submitter parkinsonism-dystonia, infantile
p.Gly325= Single submitter parkinsonism-dystonia, infantile
p.Gly361= Single submitter parkinsonism-dystonia, infantile
p.Gly369= Single submitter parkinsonism-dystonia, infantile
p.Gly380= Single submitter parkinsonism-dystonia, infantile
p.Gly39= Single submitter parkinsonism-dystonia, infantile
p.Gly433= Single submitter parkinsonism-dystonia, infantile
p.Gly481= Single submitter parkinsonism-dystonia, infantile
p.Gly95= Single submitter parkinsonism-dystonia, infantile
p.His444= Single submitter
p.Ile148= Single submitter parkinsonism-dystonia, infantile
p.Ile160= Single submitter parkinsonism-dystonia, infantile
p.Ile248= Single submitter parkinsonism-dystonia, infantile
p.Ile330= Single submitter parkinsonism-dystonia, infantile
p.Ile398= Single submitter
p.Ile420= Single submitter parkinsonism-dystonia, infantile
p.Ile431= Single submitter parkinsonism-dystonia, infantile
p.Ile435= Single submitter parkinsonism-dystonia, infantile
p.Ile67= Single submitter parkinsonism-dystonia, infantile
p.Leu120= Single submitter parkinsonism-dystonia, infantile
p.Leu150= Single submitter parkinsonism-dystonia, infantile
p.Leu244= Single submitter parkinsonism-dystonia, infantile
p.Leu255= Single submitter
p.Leu298= Single submitter parkinsonism-dystonia, infantile
p.Leu305= Single submitter parkinsonism-dystonia, infantile
p.Leu368= Single submitter parkinsonism-dystonia, infantile
p.Leu416= Single submitter parkinsonism-dystonia, infantile
p.Leu434= Single submitter parkinsonism-dystonia, infantile
p.Leu450= Single submitter parkinsonism-dystonia, infantile
p.Leu485= Single submitter
p.Leu518= Single submitter parkinsonism-dystonia, infantile
p.Leu532= Single submitter parkinsonism-dystonia, infantile
p.Leu583= Single submitter
p.Leu591= Single submitter parkinsonism-dystonia, infantile
p.Leu71= Single submitter parkinsonism-dystonia, infantile
p.Leu89= Single submitter parkinsonism-dystonia, infantile
p.Lys19= Single submitter parkinsonism-dystonia, infantile
p.Phe154= Single submitter parkinsonism-dystonia, infantile
p.Phe320= Single submitter parkinsonism-dystonia, infantile
p.Phe326= Single submitter parkinsonism-dystonia, infantile
p.Phe457= Single submitter parkinsonism-dystonia, infantile
p.Phe462= Single submitter parkinsonism-dystonia, infantile
p.Pro17= Single submitter parkinsonism-dystonia, infantile
p.Pro236= Single submitter parkinsonism-dystonia, infantile
p.Pro273= Single submitter parkinsonism-dystonia, infantile
p.Pro387= Single submitter parkinsonism-dystonia, infantile
p.Pro395= Single submitter parkinsonism-dystonia, infantile
p.Pro50= Single submitter parkinsonism-dystonia, infantile
p.Pro516= Single submitter parkinsonism-dystonia, infantile
p.Pro54= Single submitter parkinsonism-dystonia, infantile
p.Pro554= Single submitter
p.Pro597= Single submitter parkinsonism-dystonia, infantile
p.Ser13= Single submitter parkinsonism-dystonia, infantile
p.Ser190= Single submitter parkinsonism-dystonia, infantile
p.Ser202= Single submitter
p.Ser299= Single submitter parkinsonism-dystonia, infantile
p.Ser321= Single submitter parkinsonism-dystonia, infantile
p.Ser44= Single submitter parkinsonism-dystonia, infantile
p.Ser7= Single submitter parkinsonism-dystonia, infantile
p.Ser72= Single submitter parkinsonism-dystonia, infantile
p.Thr144= Single submitter parkinsonism-dystonia, infantile
p.Thr349= Single submitter parkinsonism-dystonia, infantile
p.Thr350= Single submitter parkinsonism-dystonia, infantile
p.Thr356= Single submitter parkinsonism-dystonia, infantile
p.Thr400= Single submitter parkinsonism-dystonia, infantile
p.Thr417= Single submitter parkinsonism-dystonia, infantile
p.Thr43= Single submitter parkinsonism-dystonia, infantile
p.Thr449= Single submitter parkinsonism-dystonia, infantile
p.Thr473= Single submitter parkinsonism-dystonia, infantile
p.Thr482= Single submitter parkinsonism-dystonia, infantile
p.Thr566= Single submitter parkinsonism-dystonia, infantile
p.Tyr274= Single submitter parkinsonism-dystonia, infantile
p.Tyr370= Single submitter parkinsonism-dystonia, infantile
p.Tyr470= Single submitter parkinsonism-dystonia, infantile
p.Tyr548= Single submitter parkinsonism-dystonia, infantile
p.Tyr551= Single submitter parkinsonism-dystonia, infantile
p.Tyr575= Single submitter parkinsonism-dystonia, infantile
p.Tyr593= Single submitter parkinsonism-dystonia, infantile
p.Val14= Single submitter parkinsonism-dystonia, infantile
p.Val24= Single submitter
p.Val247= Single submitter parkinsonism-dystonia, infantile
p.Val377= Single submitter parkinsonism-dystonia, infantile
p.Val453= Single submitter parkinsonism-dystonia, infantile
p.Val495= Single submitter parkinsonism-dystonia, infantile
p.Val604= Single submitter parkinsonism-dystonia, infantile
p.Glu215= No assertion criteria SLC6A3-related disorder

Uncertain significance 167

p.Ala308Val Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Ala346Val Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Ala565Ser Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Ala57Val Multiple submitters ⚠
p.Arg304Gln Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Arg51Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg588Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg610His Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Glu28Gln Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Glu589Val Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Glu602Gly Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Gly195Val Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Gly481Ser Multiple submitters Inborn genetic diseases ⚠
p.His547Asn Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Ile508Leu Multiple submitters Inborn genetic diseases ⚠
p.Lys27Asn Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Lys579Arg Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Met11Ile Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Pro194Ser Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Pro236Leu Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Pro50Leu Multiple submitters tobacco addiction, susceptibility to ⚠
p.Ser12Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser198Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser202Trp Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Thr144Met Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Thr356Met Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Trp617Ser Multiple submitters classic dopamine transporter deficiency syndrome ⚠
p.Val158Ile Multiple submitters Inborn genetic diseases ⚠
p.Val24Gly Multiple submitters Inborn genetic diseases ⚠
p.Val24Met Multiple submitters classic dopamine transporter deficiency syndrome ⚠
p.Val300Ile Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Val348Leu Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Val535Met Multiple submitters tobacco addiction, susceptibility to ⚠
p.Val537Met Multiple submitters Inborn genetic diseases ⚠
p.Val55Met Multiple submitters parkinsonism-dystonia, infantile ⚠
p.Val73Ile Multiple submitters classic dopamine transporter deficiency syndrome ⚠
c.1031+6C>A Single submitter
c.1031+6C>T Single submitter parkinsonism-dystonia, infantile
c.1156+8C>T Single submitter
c.1269+5G>A Single submitter parkinsonism-dystonia, infantile
c.1398+4C>T Single submitter parkinsonism-dystonia, infantile
c.1398+8C>A Single submitter
c.1498+13_1498+14delinsTG Single submitter parkinsonism-dystonia, infantile
c.1768-7_1768-6del Single submitter parkinsonism-dystonia, infantile
c.286+6T>A Single submitter parkinsonism-dystonia, infantile
c.653+5G>A Single submitter parkinsonism-dystonia, infantile
c.654-3C>T Single submitter parkinsonism-dystonia, infantile
c.792+4A>T Single submitter classic dopamine transporter deficiency syndrome
p.Ala16Gly Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Ala16Ser Single submitter ⚠
p.Ala192Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala214Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala296Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala331Pro Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Ala406Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala423= Single submitter parkinsonism-dystonia, infantile
p.Ala423Thr Single submitter parkinsonism-dystonia, infantile
p.Ala455Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala550Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala559Gly Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala559Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala592Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ala594Ser Single submitter Inborn genetic diseases ⚠
p.Arg219Cys Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Arg219His Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Arg219Ser Single submitter ⚠
p.Arg237Trp Single submitter ⚠
p.Arg295Lys Single submitter Inborn genetic diseases ⚠
p.Arg445His Single submitter Inborn genetic diseases ⚠
p.Arg515Gln Single submitter parkinsonism-dystonia, infantile ⚠
p.Arg51Trp Single submitter parkinsonism-dystonia, infantile ⚠
p.Arg606Lys Single submitter parkinsonism-dystonia, infantile ⚠
p.Arg60Gln Single submitter Inborn genetic diseases ⚠
p.Arg610Cys Single submitter Inborn genetic diseases ⚠
p.Arg615Cys Single submitter parkinsonism-dystonia, infantile ⚠
p.Asn185Ser Single submitter parkinsonism-dystonia, infantile ⚠
p.Asn188Ser Single submitter Inborn genetic diseases ⚠
p.Asn22Lys Single submitter Inborn genetic diseases ⚠
p.Asn38Lys Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp196Asn Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp206His Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp292Glu Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp292Gly Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp555Asn Single submitter parkinsonism-dystonia, infantile ⚠
p.Asp600Gly Single submitter Inborn genetic diseases ⚠
p.Gln122His Single submitter parkinsonism-dystonia, infantile ⚠
p.Gln509His Single submitter parkinsonism-dystonia, infantile ⚠
p.Glu126Gln Single submitter parkinsonism-dystonia, infantile ⚠
p.Glu20Ala Single submitter Inborn genetic diseases ⚠
p.Glu20Leu Single submitter
p.Glu20Ter Single submitter hereditary ataxia
p.Glu20Val Single submitter hereditary ataxia ⚠
p.Glu437Asp Single submitter parkinsonism-dystonia, infantile ⚠
p.Glu598Lys Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly140Arg Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly153Ser Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly209Arg Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly209Trp Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly234Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly361Ser Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly380Arg Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly468Val Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Gly487Arg Single submitter parkinsonism-dystonia, infantile ⚠
p.Gly502Arg Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Gly561Ser Single submitter Inborn genetic diseases ⚠
p.Gly94Ser Single submitter ⚠
p.Gly96Ser Single submitter ⚠
p.His165Tyr Single submitter parkinsonism-dystonia, infantile ⚠
p.His547Gln Single submitter parkinsonism-dystonia, infantile ⚠
p.His547Tyr Single submitter Inborn genetic diseases ⚠
p.Ile137Met Single submitter classic dopamine transporter deficiency syndrome ⚠
p.Ile137Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile248Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile312Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile413Val Single submitter Inborn genetic diseases ⚠
p.Ile435Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile540Thr Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile540Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Ile595Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Leu104Ile Single submitter parkinsonism-dystonia, infantile ⚠
p.Leu150Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Leu240Val Single submitter Inborn genetic diseases ⚠
p.Leu250Met Single submitter Inborn genetic diseases ⚠
p.Leu518Val Single submitter parkinsonism-dystonia, infantile ⚠
p.Leu532Val Single submitter Inborn genetic diseases
p.Met11Thr Single submitter Inborn genetic diseases ⚠
p.Met1fs Single submitter parkinsonism-dystonia, infantile
p.Met371Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Met427Thr Single submitter Inborn genetic diseases ⚠
p.Phe362Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Phe534Cys Single submitter parkinsonism-dystonia, infantile ⚠
p.Pro17Gln Single submitter parkinsonism-dystonia, infantile ⚠
p.Pro545Ser Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser190Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser202Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser299Gly Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser2Gly Single submitter ⚠
p.Ser333Ala Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser351Phe Single submitter Inborn genetic diseases ⚠
p.Ser360del Single submitter classic dopamine transporter deficiency syndrome
p.Ser460Cys Single submitter parkinsonism-dystonia, infantile ⚠
p.Ser72Phe Single submitter parkinsonism-dystonia, infantile ⚠
p.Thr173Met Single submitter ⚠
p.Thr286Ile Single submitter ⚠
p.Thr48Ser Single submitter ⚠
p.Thr613Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Tyr166Cys Single submitter Inborn genetic diseases ⚠
p.Tyr470Asn Single submitter Inborn genetic diseases ⚠
p.Tyr470Ser Single submitter parkinsonism-dystonia, infantile
p.Val14Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val221Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val259Met Single submitter Inborn genetic diseases ⚠
p.Val275Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val324Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val363Ile Single submitter parkinsonism-dystonia, infantile ⚠
p.Val363Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Val364Ala Single submitter Inborn genetic diseases ⚠
p.Val364Ile Single submitter parkinsonism-dystonia, infantile ⚠
p.Val409Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val471Ile Single submitter parkinsonism-dystonia, infantile ⚠
p.Val55Leu Single submitter parkinsonism-dystonia, infantile ⚠
p.Val609Met Single submitter parkinsonism-dystonia, infantile ⚠
p.Val620Met Single submitter ⚠
p.Val8= Single submitter parkinsonism-dystonia, infantile
p.Val83Ile Single submitter parkinsonism-dystonia, infantile ⚠
p.Val8Met Single submitter Inborn genetic diseases ⚠
p.Gly380_Lys384delinsGlu No assertion criteria Limb dystonia