PINK1 — 459 ClinVar variants
All ClinVar germline PINK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →
26 Pathogenic · 5 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 30 Conflicting · 36 Benign · 13 Benign/Likely benign · 116 Likely benign · 215 Uncertain significance
Full PINK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 176
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PINK1 p.Ala16Val
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala383Thr
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala494Val
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg207Gln
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg276Gln
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly23Ser
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly30Arg
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly411Ser
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Lys186Asn
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Lys186Glu
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Met341Ile
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro209Leu
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ser284Tyr
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Thr145Met
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
Predictors lean, ClinVar uncertain 127
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PINK1 p.Ala124Val
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala232Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Ala38Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Arg246Gln
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg276Trp
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg279Cys
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg279His
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg302His
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg312Gln
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg326His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Arg337His
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg422His
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg492Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Arg58Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Asp525Asn
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly163Asp
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly189Arg
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gly424Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Gly47Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Gly62Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.His515Arg
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Leu249Val
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Leu268Val
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Met527Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Pro142Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro196Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro374Arg
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ser335Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Thr133Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PINK1 p.Thr257Ile
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Tyr171Cys
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Val317Ile
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Ala121Ser Uncertain significance Single submitter
-
PINK1 p.Ala200Val
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala213Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Ala269Thr
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala269Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PINK1 p.Ala280Asp Uncertain significance Single submitter
-
PINK1 p.Ala38Val
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala421Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Ala536Ser
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala537Thr
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala54Glu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala6Val
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala75Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Arg147Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg263Lys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Arg302Cys Uncertain significance Single submitter
-
PINK1 p.Arg361Gly
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg422Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg42Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg464His
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg487Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Arg543Gly
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Arg57Cys Uncertain significance Single submitter
-
PINK1 p.Arg68Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg88Leu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg9Gly
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asn367Asp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asn367His
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asn367Ser
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asn367Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Asn451Ile
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asp366Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Asp481Val
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Cys323Tyr
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Cys377Phe
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Cys40Trp Uncertain significance Single submitter
-
PINK1 p.Cys96Trp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Gln115His
Uncertain significance
Single submitter
Inborn genetic diseases
- PINK1 p.Gln126His Uncertain significance Single submitter
-
PINK1 p.Gln129Glu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Glu206Lys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Glu252Lys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Glu392Asp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Glu445Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PINK1 p.Glu44Gly Uncertain significance Single submitter
-
PINK1 p.Glu468Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Gly26Arg
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Gly395Ser Uncertain significance Single submitter
-
PINK1 p.Gly39Val
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Gly43Arg Uncertain significance Single submitter
-
PINK1 p.Gly53Asp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Ile131Val Uncertain significance Single submitter
- PINK1 p.Ile158Val Uncertain significance Single submitter
-
PINK1 p.Ile233Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PINK1 p.Ile275Val Uncertain significance Single submitter
- PINK1 p.Ile382Ser Uncertain significance Single submitter
-
PINK1 p.Leu110Ile
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Leu11Met Uncertain significance Single submitter
-
PINK1 p.Leu191Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Leu216Phe
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Leu31Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Leu396Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Leu67Phe
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Lys186Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Lys262Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Lys433Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Lys526Asn
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Lys526Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Met221Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PINK1 p.Met342Leu Uncertain significance Single submitter
-
PINK1 p.Phe315Leu
Uncertain significance
Single submitter
neuroblastoma
-
PINK1 p.Pro138Arg
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro138Gln
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro179Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Pro212Ser
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro296Leu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro305Ala
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro336Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Pro34Arg
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro425Ser
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Pro52Leu Uncertain significance Single submitter
-
PINK1 p.Ser284Phe
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ser301Leu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Ser419Phe Uncertain significance Single submitter
-
PINK1 p.Thr22Met
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Thr324Ile
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Thr333Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Thr566Met
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Trp577Arg
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Tyr29Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Tyr321Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Val122Leu
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Val370Met Uncertain significance Single submitter
-
PINK1 p.Val418Met
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Leu308Gln
Uncertain significance
No assertion criteria
late-onset Parkinson disease
Predictors split 35
The independent predictors disagree with each other — read with care.
-
PINK1 p.Ala339Thr
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala504Val
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg152Trp
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg407Gln
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asp366Asn
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Leu461Arg
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Met318Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro215Arg
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro286Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ser73Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Val350Leu
Uncertain significance
Multiple submitters
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala291Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Ala500Gly
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Ala504Thr
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Arg337Cys
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Arg407Leu Uncertain significance Single submitter
-
PINK1 p.Arg407Trp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Asn223Ile
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Glu112Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Gly10Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Gly150Asp
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Gly448Arg Uncertain significance Single submitter
-
PINK1 p.Met342Ile
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Phe385Leu
Conflicting
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro300Ser
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Pro399Leu Uncertain significance Single submitter
- PINK1 p.Pro399Ser Uncertain significance Single submitter
-
PINK1 p.Pro479Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Ser419Pro
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Val285Met
Uncertain significance
Single submitter
autosomal recessive early-onset Parkinson disease 6
- PINK1 p.Val418Leu Uncertain significance Single submitter
-
PINK1 p.Val478Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PINK1 p.Arg326Cys
Uncertain significance
No assertion criteria
ischemic cerebrovascular diesease
-
PINK1 p.Gly309Asp
Pathogenic
No assertion criteria
autosomal recessive early-onset Parkinson disease 6
-
PINK1 p.Pro215Leu
Uncertain significance
No assertion criteria
late-onset Parkinson disease
All PINK1 variants
Pathogenic 26
- p.Arg492Ter Multiple submitters PINK1-related disorder
- p.Gln456Ter Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Leu347Pro Multiple submitters PINK1-related disorder
- p.Tyr258Ter Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1488+1G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala200fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg207fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg207Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg246Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Cys92fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln534Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln5Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Lys520fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Met237fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe104fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Trp222Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Tyr29fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Tyr444fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Tyr466fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala217Asp No assertion criteria autosomal recessive early-onset Parkinson disease 6
- p.Asp525fs No assertion criteria autosomal recessive early-onset Parkinson disease 6
- p.Gln534dup No assertion criteria autosomal recessive early-onset Parkinson disease 6
- p.Gly309Asp No assertion criteria autosomal recessive early-onset Parkinson disease 6 ⚠
- p.His271Gln No assertion criteria autosomal recessive early-onset Parkinson disease 6
- p.Trp437Ter No assertion criteria autosomal recessive early-onset Parkinson disease 6
Pathogenic/Likely pathogenic 5
- c.1252-1G>A Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ala168Pro Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Arg501Ter Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Thr313Met Multiple submitters PINK1-related disorder
- p.Trp90fs Multiple submitters autosomal recessive early-onset Parkinson disease 6
Likely pathogenic 18
- c.1252-2_1272del Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.960-2A>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1124-1G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+1G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Asp430Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Cys388Arg Single submitter
- p.Gln126Pro Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln129Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln149fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln397Ter Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Glu44fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly409Arg Single submitter
- p.His352fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.His360fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile368Asn Single submitter PINK1-related disorder
- p.Leu511fs Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe101fs Single submitter PINK1-related disorder
- p.Tyr404Ter Single submitter autosomal recessive early-onset Parkinson disease 6
Conflicting classifications of pathogenicity 30
- c.1123+19A>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1251+10G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-10C>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-11C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala16Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala359Thr Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala383Thr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala494Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala89= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg207Gln Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg276Gln Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg312= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln355= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Glu55= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly139= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly23Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly30Arg Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly411Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Lys186Asn Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Lys186Glu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Met341Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Phe385Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro138= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro209Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro286= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser284Tyr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ser365= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser576= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Thr145Met Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Thr566= Single submitter autosomal recessive early-onset Parkinson disease 6
Benign 36
- c.1124-196A>G Multiple submitters
- c.1251+43C>T Multiple submitters
- c.1252-25T>C Multiple submitters
- c.1488+296G>A Multiple submitters
- c.1489-168C>T Multiple submitters
- c.388-65C>G Multiple submitters
- c.388-7A>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.675+167A>T Multiple submitters
- c.676-240T>C Multiple submitters
- c.676-299G>A Multiple submitters
- c.676-77G>A Multiple submitters
- c.960-142G>C Multiple submitters
- c.960-178G>A Multiple submitters
- c.960-5G>A Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*181C>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*37A>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*490A>C Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ala340Thr Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Gln115Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Glu476Lys Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Leu63= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1123+124G>A Single submitter
- c.1123+161del Single submitter
- c.1123+91_1123+104del Single submitter
- c.1124-159del Single submitter
- c.1488+14del Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-269G>A Single submitter
- c.388-65_388-64del Single submitter
- c.959+299C>T Single submitter
- c.960-54G>A Single submitter
- c.960-55C>A Single submitter
- c.960-56del Single submitter
- c.960-56dup Single submitter
- c.960-57_960-56dup Single submitter
- c.960-58_960-56dup Single submitter
- p.Leu316= Single submitter autosomal recessive early-onset Parkinson disease 6
Benign/Likely benign 13
- c.387+14G>A Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.387+20A>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*196T>C Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*265G>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*40G>A Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*415C>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*564T>G Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.*672T>C Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Arg501Gln Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Asn521Thr Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Asp391= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Leu268= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Tyr454= Multiple submitters autosomal recessive early-onset Parkinson disease 6
Likely benign 116
- c.1124-258A>G Multiple submitters
- c.1251+153C>T Multiple submitters
- c.1251+9C>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1488+17C>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.388-93C>T Multiple submitters
- c.675+50T>C Multiple submitters
- c.776+10C>T Multiple submitters
- c.959+12C>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.959+72G>C Multiple submitters
- c.*349G>C Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ala168= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ala359= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Glu563= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Gly51= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Gly76= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Leu81= Multiple submitters
- p.Pro142= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ser284= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Thr145= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Val59= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1123+11G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1123+12C>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1123+15C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1124-10T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1251+13T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1251+16G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1251+19A>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1252-18C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1252-20C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1488+14C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1488+15G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.1488+20C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu573= Single submitter autosomal recessive early-onset Parkinson disease 6
- c.387+13G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.387+15G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.387+19T>C Single submitter
- c.388-18A>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-19C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-5C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.675+12G>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.675+8C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.675+9C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.676-17C>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.676-7G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+18G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+7G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-12C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-13C>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-17T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-18del Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-4C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-59_960-56dup Single submitter
- c.*532G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala208= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala211Thr Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala213= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala339= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala473= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala503= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala504= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala570= Single submitter
- p.Arg194= Single submitter
- p.Arg246= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg279= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg326= Single submitter
- p.Arg337= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Asn410= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Asp375= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln205= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gln456Arg Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly10= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly105= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly202= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly210= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly23= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly30Ser Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly349= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly43= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly47= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly62= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly8= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile128= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile218= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile358= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile382= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu143= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu148Trp Single submitter Inborn genetic diseases
- p.Leu182= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu314= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu369= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu389= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu517= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Lys520= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Met527Thr Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe21= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe447= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro179= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro209= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro322= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro334= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro95= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser230= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser301= Single submitter
- p.Ser335= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser393Arg Single submitter Inborn genetic diseases
- p.Ser510= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ser535= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Thr177= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Thr188= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Thr313= Single submitter
- p.Thr420= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Tyr295= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Tyr404= Single submitter
- p.Tyr466= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Val247= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Cys377= No assertion criteria PINK1-related disorder
Uncertain significance 215
- c.1123+4G>C Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.1251+5G>A Multiple submitters autosomal recessive early-onset Parkinson disease 6
- c.959+4A>T Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Ala124Val Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala232Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala339Thr Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala38Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala504Val Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg152Trp Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg246Gln Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg276Trp Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg279Cys Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg279His Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg302His Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg312Gln Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg326His Multiple submitters Inborn genetic diseases ⚠
- p.Arg337His Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg407Gln Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg422His Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg492Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg58Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg66Cys Multiple submitters Inborn genetic diseases
- p.Asp366Asn Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asp525Asn Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly163Asp Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly189Arg Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly424Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly47Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly62Arg Multiple submitters Inborn genetic diseases ⚠
- p.His515Arg Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Leu249Val Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Leu268Val Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Leu461Arg Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Lys496= Multiple submitters autosomal recessive early-onset Parkinson disease 6
- p.Met318Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Met527Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro142Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro196Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro215Arg Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro286Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro374Arg Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ser335Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser73Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Thr133Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr257Ile Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Tyr171Cys Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val317Ile Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val350Leu Multiple submitters autosomal recessive early-onset Parkinson disease 6 ⚠
- c.387+5G>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-3C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.388-3C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+2032G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+2110G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.776+38_776+40del Single submitter
- c.960-11C>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.960-8T>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*113G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*121G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*18G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*263C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*340C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*352G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*510G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*519G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*530AAGT[4] Single submitter
- c.*534A>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*542G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*571C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*579C>T Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*586T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*613A>G Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*64G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*655T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*702G>A Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*807T>C Single submitter autosomal recessive early-onset Parkinson disease 6
- c.*817C>A Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala121Ser Single submitter ⚠
- p.Ala200Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala213Asp Single submitter Inborn genetic diseases ⚠
- p.Ala269Thr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala269Val Single submitter Inborn genetic diseases ⚠
- p.Ala280Asp Single submitter ⚠
- p.Ala280Thr Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ala291Val Single submitter Inborn genetic diseases ⚠
- p.Ala38Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala421Val Single submitter Inborn genetic diseases ⚠
- p.Ala500Gly Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala504Thr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala536Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala537Thr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala54Glu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala6Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ala75Ser Single submitter Inborn genetic diseases ⚠
- p.Ala93= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg147Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg263Lys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg337Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg361Gly Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg407Leu Single submitter ⚠
- p.Arg407Trp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg422Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg42Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg464His Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg487Ser Single submitter Inborn genetic diseases ⚠
- p.Arg543Gly Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg58_Val59insGlyArg Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg68Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg68Pro Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Arg88Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Arg9Gly Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asn223Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asn367Asp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asn367His Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asn367Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asn367Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn451Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Asp366Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp430His Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Asp481Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Cys323Tyr Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Cys377Phe Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Cys40Trp Single submitter ⚠
- p.Cys96Trp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gln115His Single submitter Inborn genetic diseases ⚠
- p.Gln126His Single submitter ⚠
- p.Gln129Glu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gln491Pro Single submitter Inborn genetic diseases
- p.Glu112Val Single submitter Inborn genetic diseases ⚠
- p.Glu113_Gln115del Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Glu206Lys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Glu252Lys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Glu392Asp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Glu445Lys Single submitter Inborn genetic diseases ⚠
- p.Glu44Gly Single submitter ⚠
- p.Glu468Ala Single submitter Inborn genetic diseases ⚠
- p.Gly105Val Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Gly10Arg Single submitter Inborn genetic diseases ⚠
- p.Gly150Asp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly150Cys Single submitter Inborn genetic diseases
- p.Gly26Arg Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly395Ser Single submitter ⚠
- p.Gly39Val Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly448Arg Single submitter ⚠
- p.Gly53Asp Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.His271= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Ile131del Single submitter
- p.Ile131Val Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile233Ser Single submitter Inborn genetic diseases ⚠
- p.Ile275Val Single submitter ⚠
- p.Ile382Ser Single submitter ⚠
- p.Leu110Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Leu11Met Single submitter ⚠
- p.Leu191Phe Single submitter Inborn genetic diseases ⚠
- p.Leu216Phe Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Leu31Val Single submitter Inborn genetic diseases ⚠
- p.Leu396Arg Single submitter Inborn genetic diseases ⚠
- p.Leu398= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu544Pro Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu573= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Leu67Phe Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Lys186Gln Single submitter Inborn genetic diseases ⚠
- p.Lys262Asn Single submitter Inborn genetic diseases ⚠
- p.Lys433Glu Single submitter Inborn genetic diseases ⚠
- p.Lys526Asn Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Lys526Glu Single submitter Inborn genetic diseases ⚠
- p.Met221Thr Single submitter Inborn genetic diseases ⚠
- p.Met342Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Met342Leu Single submitter ⚠
- p.Met342Val Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe104Cys Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Phe315Leu Single submitter neuroblastoma ⚠
- p.Phe69Ser Single submitter Inborn genetic diseases
- p.Pro138Arg Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro138Gln Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro179Ser Single submitter Inborn genetic diseases ⚠
- p.Pro212Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro289Thr Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro296Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro300Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro305= Single submitter
- p.Pro305Ala Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro336Ala Single submitter Inborn genetic diseases ⚠
- p.Pro34Arg Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro399Leu Single submitter ⚠
- p.Pro399Ser Single submitter ⚠
- p.Pro425Ser Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Pro452= Single submitter autosomal recessive early-onset Parkinson disease 6
- p.Pro479Ser Single submitter Inborn genetic diseases ⚠
- p.Pro52Leu Single submitter ⚠
- p.Ser225= Single submitter
- p.Ser284Phe Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ser301Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Ser419Phe Single submitter ⚠
- p.Ser419Pro Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Thr22Met Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Thr324Ile Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Thr333Ile Single submitter Inborn genetic diseases ⚠
- p.Thr566Met Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Trp577Arg Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Tyr29Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr321Cys Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val122Leu Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val285Met Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val370Met Single submitter ⚠
- p.Val418Leu Single submitter ⚠
- p.Val418Met Single submitter autosomal recessive early-onset Parkinson disease 6 ⚠
- p.Val478Ala Single submitter Inborn genetic diseases ⚠
- p.Arg326Cys No assertion criteria ischemic cerebrovascular diesease ⚠
- p.Leu308Gln No assertion criteria late-onset Parkinson disease ⚠
- p.Met237Val No assertion criteria
- p.Pro215Leu No assertion criteria late-onset Parkinson disease ⚠