DNAJC6 — 380 ClinVar variants

All ClinVar germline DNAJC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

9 Pathogenic · 5 Likely pathogenic · 4 Conflicting · 47 Benign · 9 Benign/Likely benign · 128 Likely benign · 178 Uncertain significance

Full DNAJC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 1

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

DNAJC6 p.Cys498Ser Conflicting Single submitter
juvenile onset Parkinson disease 19A

Predictors lean, ClinVar uncertain 92

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

DNAJC6 p.Ala277Thr Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala611Val Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala626Val Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala836Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Arg619His Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Gln614Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Gln921Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Gly708Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.His606Pro Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ile347Val Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Leu764Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Lys536Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Met331Thr Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Met707Val Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro551Thr Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ser827Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Ala465Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ala546Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ala596Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ala611Thr Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala815Ser Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala947Thr Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg181Gln Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg203Gln Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Arg309Cys Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Arg309His Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg330Gln Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Arg823Pro Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Asn139Asp Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Asn139Ser Uncertain significance Single submitter
DNAJC6 p.Asn507Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Asn849Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Asp161Ala Uncertain significance Single submitter
DNAJC6 p.Asp313Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Asp338His Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Asp514Val Uncertain significance Single submitter
DNAJC6 p.Asp553Glu Uncertain significance Single submitter
DNAJC6 p.Asp738Asn Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Asp873Glu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Cys221Arg Uncertain significance Single submitter
DNAJC6 p.Cys439Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Cys487Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Cys498Tyr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gln598His Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Gln834Lys Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Glu516Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Glu602Lys Uncertain significance Single submitter
DNAJC6 p.Gly478Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly561Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly633Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly778Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly826Arg Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.His159Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.His502Tyr Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.His721Arg Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.His851Gln Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ile142Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ile688Phe Uncertain significance Single submitter
DNAJC6 p.Leu345Ser Uncertain significance Single submitter
DNAJC6 p.Leu556Phe Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Leu581Val Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Leu668His Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Lys177Glu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Lys531Asn Uncertain significance Single submitter
DNAJC6 p.Lys646Gln Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Lys865Arg Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Met272Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Met357Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Met897Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Met913Ile Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Phe135Cys Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro538Ala Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro551Ala Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro551Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro607Thr Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro610Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro674Ser Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro817Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro857Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ser323Leu Uncertain significance Single submitter
DNAJC6 p.Ser493Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ser661Gly Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr397Asn Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr458Met Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr899Ser Uncertain significance Single submitter
DNAJC6 p.Trp958Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Tyr173Cys Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Tyr943Cys Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Val295Phe Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Val353Met Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Val632Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Val811Leu Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 64

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

DNAJC6 p.Ala226Val Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala234Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Ala770Val Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Arg174Gln Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg282Cys Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg335His Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Arg823His Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Asp691Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Glu905Asp Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Met133Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Met357Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Pro548Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Pro549Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNAJC6 p.Ser664Gly Uncertain significance Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ser728Asn Benign Multiple submitters
juvenile onset Parkinson disease 19A
DNAJC6 p.Ala547Gly Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ala572Val Conflicting Single submitter
Inborn genetic diseases
DNAJC6 p.Ala784Val Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg152Gln Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg225Gln Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg225Trp Uncertain significance Single submitter
DNAJC6 p.Arg282His Benign Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Arg367Gln Uncertain significance Single submitter
DNAJC6 p.Arg618Cys Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Asp278Gly Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Asp426Val Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Cys325Arg Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Gly270Asp Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Gly588Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly758Asp Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly759Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Gly819Asp Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.His437Tyr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.His679Tyr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Lys395Asn Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Lys729Thr Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Met949Thr Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Phe482Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Phe483Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Phe605Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Phe638Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro280Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro280Ser Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro550Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro570Leu Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Pro647Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro666Leu Uncertain significance Single submitter
DNAJC6 p.Pro684Arg Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Pro803Thr Uncertain significance Single submitter
DNAJC6 p.Ser450Ala Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ser661Asn Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ser675Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Ser682Gly Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Ser766Leu Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr244Ile Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr594Ile Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr624Ile Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Thr683Met Uncertain significance Single submitter
DNAJC6 p.Thr752Ile Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Trp696Arg Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Trp696Gly Uncertain significance Single submitter
DNAJC6 p.Tyr75Cys Uncertain significance Single submitter
juvenile onset Parkinson disease 19A
DNAJC6 p.Val132Ala Uncertain significance Single submitter
Inborn genetic diseases
DNAJC6 p.Val932Ala Uncertain significance Single submitter
Inborn genetic diseases

All DNAJC6 variants

Pathogenic 9

p.Arg330Ter Multiple submitters juvenile onset Parkinson disease 19A
p.Ala227fs Single submitter juvenile onset Parkinson disease 19A
p.Arg152Ter Single submitter juvenile onset Parkinson disease 19A
p.Gln820fs Single submitter juvenile onset Parkinson disease 19A
p.Glu494fs Single submitter DNAJC6-related disorder
c.801-2A>G No assertion criteria juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
p.Arg927Gly No assertion criteria Parkinson disease 19B, early-onset
p.Gln804Ter No assertion criteria juvenile onset Parkinson disease 19A
p.Gln846Ter No assertion criteria juvenile onset Parkinson disease 19A

Likely pathogenic 5

c.194-1G>A Single submitter juvenile onset Parkinson disease 19A
c.666+1G>A Single submitter juvenile onset Parkinson disease 19A
p.Glu17Ter Single submitter juvenile onset Parkinson disease 19A
p.Met235fs Single submitter
p.Pro857fs Single submitter juvenile onset Parkinson disease 19A

Conflicting classifications of pathogenicity 4

c.344+4C>T Single submitter juvenile onset Parkinson disease 19A
c.344+6C>T Single submitter juvenile onset Parkinson disease 19A
p.Ala572Val Single submitter Inborn genetic diseases ⚠
p.Cys498Ser Single submitter juvenile onset Parkinson disease 19A ⚠

Benign 47

c.1113+258A>G Multiple submitters
c.1469-26T>C Multiple submitters
c.194-17T>G Multiple submitters juvenile onset Parkinson disease 19A
c.194-19T>G Multiple submitters juvenile onset Parkinson disease 19A
c.194-21G>T Multiple submitters juvenile onset Parkinson disease 19A
c.194-6del Multiple submitters juvenile onset Parkinson disease 19A
c.2108-53C>G Multiple submitters
c.22+44572G>C Multiple submitters
c.2227+152C>T Multiple submitters
c.344+140T>C Multiple submitters
c.543+135A>G Multiple submitters
c.544-122A>G Multiple submitters
c.544-43A>T Multiple submitters
c.544-9C>T Multiple submitters juvenile onset Parkinson disease 19A
c.666+239A>C Multiple submitters
c.996-185A>G Multiple submitters
p.Glu500= Multiple submitters juvenile onset Parkinson disease 19A
p.His502= Multiple submitters juvenile onset Parkinson disease 19A
p.Lys171= Multiple submitters juvenile onset Parkinson disease 19A
p.Pro670= Multiple submitters juvenile onset Parkinson disease 19A
p.Ser661= Multiple submitters juvenile onset Parkinson disease 19A
p.Ser728Asn Multiple submitters juvenile onset Parkinson disease 19A ⚠
c.193+177G>A Single submitter
c.193+196C>T Single submitter
c.194-7_194-6del Single submitter juvenile onset Parkinson disease 19A
c.2038+159T>G Single submitter
c.2039-276G>T Single submitter
c.2039-298A>G Single submitter
c.22+236C>T Single submitter
c.22+247A>G Single submitter
c.22+44297C>T Single submitter
c.2227+311G>C Single submitter
c.2491+195A>G Single submitter
c.2491+203A>G Single submitter
c.2491+208_2491+209del Single submitter
c.2492-177T>A Single submitter
c.2492-287T>C Single submitter
c.2634+170dup Single submitter
c.2634+324A>G Single submitter
c.2811+308del Single submitter
c.544-20C>T Single submitter juvenile onset Parkinson disease 19A
c.995+170G>A Single submitter
c.996-9T>C Single submitter juvenile onset Parkinson disease 19A
p.Arg282His Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ile347= Single submitter juvenile onset Parkinson disease 19A
p.Leu422= Single submitter juvenile onset Parkinson disease 19A
p.Ser675= Single submitter juvenile onset Parkinson disease 19A

Benign/Likely benign 9

c.194-18T>G Multiple submitters juvenile onset Parkinson disease 19A
c.194-20_194-19insG Multiple submitters juvenile onset Parkinson disease 19A
p.Ala226= Multiple submitters juvenile onset Parkinson disease 19A
p.Gly777= Multiple submitters juvenile onset Parkinson disease 19A
p.Ile249Val Multiple submitters juvenile onset Parkinson disease 19A
p.Leu486Phe Multiple submitters juvenile onset Parkinson disease 19A
p.Pro570= Multiple submitters juvenile onset Parkinson disease 19A
p.Pro817= Multiple submitters juvenile onset Parkinson disease 19A
p.Thr440= Multiple submitters juvenile onset Parkinson disease 19A

Likely benign 128

c.1904-68G>A Multiple submitters
c.194-5G>T Multiple submitters juvenile onset Parkinson disease 19A
c.2227+171G>A Multiple submitters
c.2811+135T>C Multiple submitters
c.666+216C>T Multiple submitters
c.*174C>T Multiple submitters
p.Arg48= Multiple submitters juvenile onset Parkinson disease 19A
p.Asn526Ser Multiple submitters juvenile onset Parkinson disease 19A
p.Gly88= Multiple submitters juvenile onset Parkinson disease 19A
p.Leu394= Multiple submitters juvenile onset Parkinson disease 19A
p.Leu842= Multiple submitters juvenile onset Parkinson disease 19A
p.Ser720Leu Multiple submitters juvenile onset Parkinson disease 19A
p.Thr752Ser Multiple submitters juvenile onset Parkinson disease 19A
p.Thr899= Multiple submitters juvenile onset Parkinson disease 19A
p.Tyr946= Multiple submitters juvenile onset Parkinson disease 19A
c.1113+324A>G Single submitter
c.1114-72C>G Single submitter
c.1193+16G>A Single submitter juvenile onset Parkinson disease 19A
c.1194-148A>C Single submitter
c.1194-148A>G Single submitter
c.1194-208T>G Single submitter
c.1194-9C>G Single submitter juvenile onset Parkinson disease 19A
c.1388-20A>G Single submitter juvenile onset Parkinson disease 19A
c.1468+171G>A Single submitter
c.1904-12A>G Single submitter juvenile onset Parkinson disease 19A
c.1904-20del Single submitter juvenile onset Parkinson disease 19A
c.1904-326T>C Single submitter
c.193+221C>T Single submitter
c.193+9G>T Single submitter juvenile onset Parkinson disease 19A
c.194-13T>G Single submitter juvenile onset Parkinson disease 19A
c.194-15T>G Single submitter juvenile onset Parkinson disease 19A
c.194-16T>G Single submitter juvenile onset Parkinson disease 19A
c.194-22dup Single submitter
c.194-6dup Single submitter
c.2038+16A>G Single submitter juvenile onset Parkinson disease 19A
c.2039-4G>T Single submitter juvenile onset Parkinson disease 19A
c.2107+11G>T Single submitter juvenile onset Parkinson disease 19A
c.2107+288C>T Single submitter
c.2107+8_2107+10del Single submitter juvenile onset Parkinson disease 19A
c.2108-14T>C Single submitter juvenile onset Parkinson disease 19A
c.2108-202A>G Single submitter
c.2227+271C>T Single submitter
c.2227+306G>A Single submitter
c.2228-17T>A Single submitter juvenile onset Parkinson disease 19A
c.2491+276G>A Single submitter
c.2492-12A>T Single submitter juvenile onset Parkinson disease 19A
c.2634+18C>T Single submitter juvenile onset Parkinson disease 19A
c.2635-62G>A Single submitter
c.2635-64del Single submitter
c.2811+229T>C Single submitter
c.344+12C>A Single submitter juvenile onset Parkinson disease 19A
c.344+12C>T Single submitter juvenile onset Parkinson disease 19A
c.344+297del Single submitter
c.345-20C>T Single submitter juvenile onset Parkinson disease 19A
c.543+10T>G Single submitter juvenile onset Parkinson disease 19A
c.544-45G>A Single submitter
c.666+10C>G Single submitter juvenile onset Parkinson disease 19A
c.666+19T>G Single submitter juvenile onset Parkinson disease 19A
c.666+288A>C Single submitter
c.667-17T>G Single submitter juvenile onset Parkinson disease 19A
c.667-18A>T Single submitter juvenile onset Parkinson disease 19A
c.801-14A>C Single submitter juvenile onset Parkinson disease 19A
c.995+16T>C Single submitter juvenile onset Parkinson disease 19A
c.995+218C>A Single submitter
c.995+272A>G Single submitter
c.995+54G>T Single submitter
c.996-14G>T Single submitter juvenile onset Parkinson disease 19A
c.996-15G>T Single submitter juvenile onset Parkinson disease 19A
c.-108G>A Single submitter
p.Ala227= Single submitter juvenile onset Parkinson disease 19A
p.Ala572= Single submitter juvenile onset Parkinson disease 19A
p.Ala66= Single submitter juvenile onset Parkinson disease 19A
p.Ala700Thr Single submitter Inborn genetic diseases
p.Ala737= Single submitter juvenile onset Parkinson disease 19A
p.Ala770= Single submitter juvenile onset Parkinson disease 19A
p.Ala87= Single submitter
p.Arg250= Single submitter juvenile onset Parkinson disease 19A
p.Arg52= Single submitter juvenile onset Parkinson disease 19A
p.Asn197= Single submitter juvenile onset Parkinson disease 19A
p.Asn658= Single submitter juvenile onset Parkinson disease 19A
p.Asn687= Single submitter
p.Asn821= Single submitter juvenile onset Parkinson disease 19A
p.Asp352= Single submitter
p.Asp62= Single submitter juvenile onset Parkinson disease 19A
p.Asp70= Single submitter juvenile onset Parkinson disease 19A
p.Gln39= Single submitter juvenile onset Parkinson disease 19A
p.Gln423= Single submitter juvenile onset Parkinson disease 19A
p.Gln689= Single submitter juvenile onset Parkinson disease 19A
p.Gln791= Single submitter
p.Glu511= Single submitter juvenile onset Parkinson disease 19A
p.Glu72= Single submitter juvenile onset Parkinson disease 19A
p.Glu881= Single submitter juvenile onset Parkinson disease 19A
p.Glu962= Single submitter
p.Gly740= Single submitter juvenile onset Parkinson disease 19A
p.Leu251= Single submitter juvenile onset Parkinson disease 19A
p.Leu461= Single submitter juvenile onset Parkinson disease 19A
p.Leu90= Single submitter juvenile onset Parkinson disease 19A
p.Leu901= Single submitter juvenile onset Parkinson disease 19A
p.Lys395= Single submitter juvenile onset Parkinson disease 19A
p.Lys710= Single submitter juvenile onset Parkinson disease 19A
p.Phe585= Single submitter juvenile onset Parkinson disease 19A
p.Pro257= Single submitter juvenile onset Parkinson disease 19A
p.Pro263= Single submitter juvenile onset Parkinson disease 19A
p.Pro299= Single submitter juvenile onset Parkinson disease 19A
p.Pro523= Single submitter juvenile onset Parkinson disease 19A
p.Pro54= Single submitter juvenile onset Parkinson disease 19A
p.Pro735= Single submitter juvenile onset Parkinson disease 19A
p.Pro762= Single submitter juvenile onset Parkinson disease 19A
p.Pro790= Single submitter juvenile onset Parkinson disease 19A
p.Ser169= Single submitter juvenile onset Parkinson disease 19A
p.Ser229= Single submitter juvenile onset Parkinson disease 19A
p.Ser292= Single submitter juvenile onset Parkinson disease 19A
p.Ser362= Single submitter
p.Ser450= Single submitter juvenile onset Parkinson disease 19A
p.Ser608= Single submitter juvenile onset Parkinson disease 19A
p.Ser615= Single submitter juvenile onset Parkinson disease 19A
p.Ser745= Single submitter juvenile onset Parkinson disease 19A
p.Ser766= Single submitter juvenile onset Parkinson disease 19A
p.Thr458= Single submitter juvenile onset Parkinson disease 19A
p.Thr717= Single submitter juvenile onset Parkinson disease 19A
p.Thr741= Single submitter juvenile onset Parkinson disease 19A
p.Tyr125= Single submitter juvenile onset Parkinson disease 19A
p.Tyr268= Single submitter juvenile onset Parkinson disease 19A
p.Tyr477= Single submitter juvenile onset Parkinson disease 19A
p.Val165= Single submitter juvenile onset Parkinson disease 19A
p.Val554= Single submitter juvenile onset Parkinson disease 19A
p.Val930= Single submitter juvenile onset Parkinson disease 19A
p.Val933= Single submitter juvenile onset Parkinson disease 19A

Uncertain significance 178

p.Ala226Val Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ala234Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala277Thr Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ala611Val Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ala626Val Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ala770Val Multiple submitters Inborn genetic diseases ⚠
p.Ala836Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg174Gln Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Arg282Cys Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Arg335His Multiple submitters Inborn genetic diseases ⚠
p.Arg619His Multiple submitters Inborn genetic diseases ⚠
p.Arg823His Multiple submitters Inborn genetic diseases ⚠
p.Asp691Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln614Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln921Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu905Asp Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Gly708Arg Multiple submitters Inborn genetic diseases ⚠
p.His606Pro Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ile347Val Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Leu764Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys536Arg Multiple submitters Inborn genetic diseases ⚠
p.Met133Leu Multiple submitters Inborn genetic diseases ⚠
p.Met331Thr Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Met357Thr Multiple submitters Inborn genetic diseases ⚠
p.Met707Val Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Pro548Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro549Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro551Thr Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Pro702= Multiple submitters juvenile onset Parkinson disease 19A
p.Ser664Gly Multiple submitters juvenile onset Parkinson disease 19A ⚠
p.Ser827Leu Multiple submitters Inborn genetic diseases ⚠
c.1113+3A>G Single submitter
c.1388-18G>A Single submitter juvenile onset Parkinson disease 19A
c.2038+3A>G Single submitter juvenile onset Parkinson disease 19A
c.2107+3A>G Single submitter juvenile onset Parkinson disease 19A
c.22+3A>G Single submitter juvenile onset Parkinson disease 19A
c.2228-3T>C Single submitter juvenile onset Parkinson disease 19A
c.666+3G>A Single submitter juvenile onset Parkinson disease 19A
c.-4G>A Single submitter
p.Ala43Val Single submitter juvenile onset Parkinson disease 19A
p.Ala465Thr Single submitter Inborn genetic diseases ⚠
p.Ala546Val Single submitter Inborn genetic diseases ⚠
p.Ala547Gly Single submitter Inborn genetic diseases ⚠
p.Ala596Ser Single submitter Inborn genetic diseases ⚠
p.Ala611Thr Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ala784Val Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ala815Ser Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ala947Thr Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg152Gln Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg181Gln Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg203Gln Single submitter Inborn genetic diseases ⚠
p.Arg225Gln Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg225Trp Single submitter ⚠
p.Arg309Cys Single submitter Inborn genetic diseases ⚠
p.Arg309His Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg330Gln Single submitter Inborn genetic diseases ⚠
p.Arg367Gln Single submitter ⚠
p.Arg40Ile Single submitter juvenile onset Parkinson disease 19A
p.Arg48Pro Single submitter
p.Arg52Gly Single submitter juvenile onset Parkinson disease 19A
p.Arg57Leu Single submitter juvenile onset Parkinson disease 19A
p.Arg618Cys Single submitter juvenile onset Parkinson disease 19A ⚠
p.Arg823Pro Single submitter juvenile onset Parkinson disease 19A ⚠
p.Asn139Asp Single submitter Inborn genetic diseases ⚠
p.Asn139Ser Single submitter ⚠
p.Asn507Ser Single submitter Inborn genetic diseases ⚠
p.Asn849Ser Single submitter Inborn genetic diseases ⚠
p.Asp161Ala Single submitter ⚠
p.Asp278Gly Single submitter juvenile onset Parkinson disease 19A ⚠
p.Asp27Tyr Single submitter juvenile onset Parkinson disease 19A
p.Asp313Val Single submitter Inborn genetic diseases ⚠
p.Asp338His Single submitter juvenile onset Parkinson disease 19A ⚠
p.Asp426Val Single submitter Inborn genetic diseases ⚠
p.Asp514Val Single submitter ⚠
p.Asp553Glu Single submitter ⚠
p.Asp738Asn Single submitter juvenile onset Parkinson disease 19A ⚠
p.Asp873Glu Single submitter Inborn genetic diseases ⚠
p.Cys221Arg Single submitter ⚠
p.Cys325Arg Single submitter juvenile onset Parkinson disease 19A ⚠
p.Cys439Arg Single submitter Inborn genetic diseases ⚠
p.Cys487Arg Single submitter Inborn genetic diseases ⚠
p.Cys498Tyr Single submitter Inborn genetic diseases ⚠
p.Gln39Glu Single submitter
p.Gln598His Single submitter juvenile onset Parkinson disease 19A ⚠
p.Gln834Lys Single submitter Inborn genetic diseases ⚠
p.Glu516Val Single submitter Inborn genetic diseases ⚠
p.Glu544= Single submitter
p.Glu602Lys Single submitter ⚠
p.Gly270Asp Single submitter juvenile onset Parkinson disease 19A ⚠
p.Gly34Ala Single submitter juvenile onset Parkinson disease 19A
p.Gly478Arg Single submitter Inborn genetic diseases ⚠
p.Gly561Arg Single submitter Inborn genetic diseases ⚠
p.Gly588Arg Single submitter Inborn genetic diseases ⚠
p.Gly633Arg Single submitter Inborn genetic diseases ⚠
p.Gly758Asp Single submitter Inborn genetic diseases ⚠
p.Gly759Arg Single submitter Inborn genetic diseases ⚠
p.Gly778Arg Single submitter Inborn genetic diseases ⚠
p.Gly819Asp Single submitter Inborn genetic diseases ⚠
p.Gly826Arg Single submitter juvenile onset Parkinson disease 19A ⚠
p.His159Arg Single submitter Inborn genetic diseases ⚠
p.His437Tyr Single submitter Inborn genetic diseases ⚠
p.His502Tyr Single submitter juvenile onset Parkinson disease 19A ⚠
p.His679Tyr Single submitter Inborn genetic diseases ⚠
p.His721Arg Single submitter juvenile onset Parkinson disease 19A ⚠
p.His851Gln Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ile142Val Single submitter Inborn genetic diseases ⚠
p.Ile688Phe Single submitter ⚠
p.Leu28Ser Single submitter juvenile onset Parkinson disease 19A
p.Leu345Ser Single submitter ⚠
p.Leu556Phe Single submitter juvenile onset Parkinson disease 19A ⚠
p.Leu581Val Single submitter juvenile onset Parkinson disease 19A ⚠
p.Leu668His Single submitter juvenile onset Parkinson disease 19A ⚠
p.Lys177Glu Single submitter Inborn genetic diseases ⚠
p.Lys371= Single submitter juvenile onset Parkinson disease 19A
p.Lys395Asn Single submitter Inborn genetic diseases ⚠
p.Lys531Asn Single submitter ⚠
p.Lys646Gln Single submitter Inborn genetic diseases ⚠
p.Lys729Thr Single submitter Inborn genetic diseases ⚠
p.Lys865Arg Single submitter juvenile onset Parkinson disease 19A ⚠
p.Met272Thr Single submitter Inborn genetic diseases ⚠
p.Met357Val Single submitter Inborn genetic diseases ⚠
p.Met61Val Single submitter
p.Met897Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Met913Ile Single submitter Inborn genetic diseases ⚠
p.Met949Thr Single submitter juvenile onset Parkinson disease 19A ⚠
p.Phe135Cys Single submitter Inborn genetic diseases ⚠
p.Phe482Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Phe483Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Phe605Ser Single submitter Inborn genetic diseases ⚠
p.Phe638Leu Single submitter Inborn genetic diseases ⚠
p.Pro280Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Pro280Ser Single submitter Inborn genetic diseases ⚠
p.Pro50Leu Single submitter juvenile onset Parkinson disease 19A
p.Pro538Ala Single submitter juvenile onset Parkinson disease 19A ⚠
p.Pro550Leu Single submitter Inborn genetic diseases ⚠
p.Pro551Ala Single submitter Inborn genetic diseases ⚠
p.Pro551Arg Single submitter Inborn genetic diseases ⚠
p.Pro55Gln Single submitter juvenile onset Parkinson disease 19A
p.Pro570Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Pro607Thr Single submitter juvenile onset Parkinson disease 19A ⚠
p.Pro610Thr Single submitter Inborn genetic diseases ⚠
p.Pro647Leu Single submitter Inborn genetic diseases ⚠
p.Pro666Leu Single submitter ⚠
p.Pro674Ser Single submitter juvenile onset Parkinson disease 19A ⚠
p.Pro684Arg Single submitter Inborn genetic diseases ⚠
p.Pro803Thr Single submitter ⚠
p.Pro817Leu Single submitter Inborn genetic diseases ⚠
p.Pro857Thr Single submitter Inborn genetic diseases ⚠
p.Ser323Leu Single submitter ⚠
p.Ser450Ala Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ser493Leu Single submitter Inborn genetic diseases ⚠
p.Ser59Gly Single submitter juvenile onset Parkinson disease 19A
p.Ser661Asn Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ser661Gly Single submitter Inborn genetic diseases ⚠
p.Ser675Leu Single submitter Inborn genetic diseases ⚠
p.Ser682Gly Single submitter juvenile onset Parkinson disease 19A ⚠
p.Ser766Leu Single submitter Inborn genetic diseases ⚠
p.Thr11Ile Single submitter juvenile onset Parkinson disease 19A
p.Thr244Ile Single submitter Inborn genetic diseases ⚠
p.Thr397Asn Single submitter Inborn genetic diseases ⚠
p.Thr458Met Single submitter Inborn genetic diseases ⚠
p.Thr594Ile Single submitter Inborn genetic diseases ⚠
p.Thr624Ile Single submitter Inborn genetic diseases ⚠
p.Thr683Met Single submitter ⚠
p.Thr752Ile Single submitter juvenile onset Parkinson disease 19A ⚠
p.Thr899Ser Single submitter ⚠
p.Trp696Arg Single submitter juvenile onset Parkinson disease 19A ⚠
p.Trp696Gly Single submitter ⚠
p.Trp958Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Tyr173Cys Single submitter juvenile onset Parkinson disease 19A ⚠
p.Tyr75Cys Single submitter juvenile onset Parkinson disease 19A ⚠
p.Tyr943Cys Single submitter Inborn genetic diseases ⚠
p.Val132Ala Single submitter Inborn genetic diseases ⚠
p.Val295Phe Single submitter Inborn genetic diseases ⚠
p.Val353Met Single submitter juvenile onset Parkinson disease 19A ⚠
p.Val632Leu Single submitter juvenile onset Parkinson disease 19A ⚠
p.Val811Leu Single submitter Inborn genetic diseases ⚠
p.Val932Ala Single submitter Inborn genetic diseases ⚠