PLA2G6 — 1166 ClinVar variants
All ClinVar germline PLA2G6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 392 flagged for review →
69 Pathogenic · 45 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 109 Conflicting · 55 Benign · 9 Benign/Likely benign · 462 Likely benign · 361 Uncertain significance
Full PLA2G6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 392
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PLA2G6 p.Arg543Cys
Pathogenic/Likely pathogenic
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg741Gln
Pathogenic/Likely pathogenic
Multiple submitters
PLA2G6-related disorder
-
PLA2G6 p.Asp331Tyr
Pathogenic
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.His479Asp
Pathogenic/Likely pathogenic
Multiple submitters
neurodegeneration with brain iron accumulation
-
PLA2G6 p.Ser504Leu
Pathogenic/Likely pathogenic
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Gln2Lys
Likely pathogenic
Single submitter
Iron accumulation in brain
-
PLA2G6 p.Met274Arg
Pathogenic
Single submitter
Iron accumulation in brain
-
PLA2G6 p.Met544Leu
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Val506Met
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2A
Predictors agree, ClinVar conflicts 59
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PLA2G6 p.Ala209Thr
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala227Val
Conflicting
Single submitter
neurodegeneration with brain iron accumulation
-
PLA2G6 p.Ala300Thr
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala423Thr
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala423Val
Conflicting
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Ala499Thr
Conflicting
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Ala516Val
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala781Thr
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala80Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg115Cys
Conflicting
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Arg139His
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg237His
Conflicting
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Arg23Gln
Conflicting
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Arg329His
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg39Gln
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg475Gln
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg538Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg591Leu
Conflicting
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg591Pro
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg612Leu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg70Gln
Conflicting
Single submitter
spastic ataxia
-
PLA2G6 p.Arg745Gln
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn52Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp31Asn
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Cys750Tyr
Conflicting
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Glu501Lys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu567Lys
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Glu667Lys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2B
-
PLA2G6 p.Gly253Ser
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Gly266Ala
Conflicting
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Gly539Ser
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Gly586Arg Conflicting Single submitter
-
PLA2G6 p.Gly653Ser
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Gly740Arg
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.His109Asp
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Ile334Met Conflicting Single submitter
-
PLA2G6 p.Ile366Asn
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Leu129Pro
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Leu224Pro Conflicting Single submitter
-
PLA2G6 p.Leu321Pro
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Leu496Phe
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Leu511Pro
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Met470Val
Conflicting
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Phe599Leu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro223Leu
Conflicting
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Pro353Leu
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Pro443Leu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro660Arg
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Pro660Ser
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro806Arg
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ser258Leu
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ser34Leu
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ser89Tyr
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Thr476Ile
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Thr585Ile
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Trp749Ser
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Val310Glu
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Val323Met
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Val617Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 231
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 231
-
PLA2G6 p.Ala147Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala268Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Ala343Val
Uncertain significance
Multiple submitters
Parkinson disease
-
PLA2G6 p.Ala464Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala746Ser
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg115His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg132His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg139Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg285His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg301Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg306Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg306Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg346His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg459Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg461Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg550Gln
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg609Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg612Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg612His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg635Gly
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg677Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg677Leu
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg6Cys
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Asn145Ser
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn309Lys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn616His
Uncertain significance
Multiple submitters
PLA2G6-related disorder
-
PLA2G6 p.Asn9Ser
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp183Asn
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp331Asn
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Asp472Asn
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Cys143Tyr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Cys750Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu150Lys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu412Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Glu473Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Glu562Gly
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.His349Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.His792Pro
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Leu467Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Leu491Arg
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Leu596Phe
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Leu662Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Lys185Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Met326Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Met534Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Pro251Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Pro416Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Pro62Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro711Arg
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Pro806Ser Uncertain significance Multiple submitters
-
PLA2G6 p.Ser263Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Ser35Asn
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ser519Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ser89Phe
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Thr10Asn
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Thr575Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Thr642Ala
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Thr766Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Tyr555Cys
Uncertain significance
Multiple submitters
PLA2G6-related disorder
-
PLA2G6 p.Val238Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Val409Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Val690Ile
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Val701Met
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala147Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala259Asp
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala294Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala343Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala345Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Ala429Val Uncertain significance Single submitter
-
PLA2G6 p.Ala460Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Ala464Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Ala535Asp Uncertain significance Single submitter
-
PLA2G6 p.Ala724Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala742Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Arg132Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg161His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg237Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg245Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg285Cys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg301Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Arg301Ser Uncertain significance Single submitter
-
PLA2G6 p.Arg37Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg459Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Arg461Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg53His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Arg543Leu Uncertain significance Single submitter
-
PLA2G6 p.Arg543Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg566Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg578Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg632Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg677His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg697Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg6His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg741Gly
Uncertain significance
Single submitter
PLA2G6-related disorder
-
PLA2G6 p.Asn318Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Asn328Ser Uncertain significance Single submitter
-
PLA2G6 p.Asn52Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn61Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Asn713Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Asn780Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp164His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp361Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PLA2G6 p.Asp472Glu Uncertain significance Single submitter
- PLA2G6 p.Asp484Gly Uncertain significance Single submitter
-
PLA2G6 p.Asp56His
Uncertain significance
Single submitter
Inborn genetic diseases
- PLA2G6 p.Asp627Asn Uncertain significance Single submitter
- PLA2G6 p.Asp663Val Uncertain significance Single submitter
-
PLA2G6 p.Cys146Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Cys175Tyr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Cys246Arg Uncertain significance Single submitter
- PLA2G6 p.Cys705Phe Uncertain significance Single submitter
-
PLA2G6 p.Cys735Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Gln178His
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Gln440Glu Uncertain significance Single submitter
-
PLA2G6 p.Gln763His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Gln801Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PLA2G6 p.Gln90Glu Uncertain significance Single submitter
- PLA2G6 p.Glu40Gly Uncertain significance Single submitter
-
PLA2G6 p.Glu473Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Glu562Asp Uncertain significance Single submitter
-
PLA2G6 p.Glu77Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Glu786Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Glu786Gln Uncertain significance Single submitter
-
PLA2G6 p.Glu786Lys
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Gly13Ala Uncertain significance Single submitter
- PLA2G6 p.Gly186Glu Uncertain significance Single submitter
- PLA2G6 p.Gly212Asp Uncertain significance Single submitter
-
PLA2G6 p.Gly220Arg
Uncertain significance
Single submitter
Iron accumulation in brain
- PLA2G6 p.Gly231Arg Uncertain significance Single submitter
- PLA2G6 p.Gly231Glu Uncertain significance Single submitter
- PLA2G6 p.Gly231Val Uncertain significance Single submitter
-
PLA2G6 p.Gly253Val
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Gly266Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Gly394Ser Uncertain significance Single submitter
- PLA2G6 p.Gly420Arg Uncertain significance Single submitter
-
PLA2G6 p.Gly517Cys
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Gly551Ser Uncertain significance Single submitter
- PLA2G6 p.Gly558Arg Uncertain significance Single submitter
-
PLA2G6 p.Gly754Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.His124Tyr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2B
-
PLA2G6 p.His136Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.His157Pro Uncertain significance Single submitter
- PLA2G6 p.His339Tyr Uncertain significance Single submitter
-
PLA2G6 p.His349Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PLA2G6 p.His355Tyr Uncertain significance Single submitter
- PLA2G6 p.His419Tyr Uncertain significance Single submitter
- PLA2G6 p.His456Pro Uncertain significance Single submitter
-
PLA2G6 p.His479Tyr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.His571Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.His792Gln
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
Predictors split 93
The independent predictors disagree with each other — read with care.
-
PLA2G6 p.Ala525Thr
Uncertain significance
Multiple submitters
Iron accumulation in brain
-
PLA2G6 p.Arg161Cys
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg23Trp
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg245Trp
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg346Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Arg475Trp Uncertain significance Multiple submitters
-
PLA2G6 p.Arg543His
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg550Trp
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg566Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Arg635Leu
Uncertain significance
Multiple submitters
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg747Gln
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg793Cys
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Gly350Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Gly679Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PLA2G6 p.His349Pro Uncertain significance Multiple submitters
-
PLA2G6 p.Ile271Thr
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Leu511Val
Uncertain significance
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Lys25Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLA2G6 p.Met665Val
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Phe563Leu
Uncertain significance
Multiple submitters
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Val371Met
Likely pathogenic
Multiple submitters
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala144Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Ala297Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Ala390Thr
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Ala499Val Uncertain significance Single submitter
-
PLA2G6 p.Ala633Val
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Ala657Thr
Pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg329Cys
Likely pathogenic
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Arg39Trp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg649Cys
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Arg649His Uncertain significance Single submitter
-
PLA2G6 p.Arg6Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg710Cys
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Arg710His
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Asn318Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn362Ile
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn658Lys
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asn658Thr
Likely pathogenic
Single submitter
Iron accumulation in brain
-
PLA2G6 p.Asn659Ser
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2B
-
PLA2G6 p.Asp283Gly
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Asp737Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Asp739His
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Cys160Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Cys332Arg
Conflicting
Single submitter
Iron accumulation in brain
- PLA2G6 p.Cys735Phe Uncertain significance Single submitter
-
PLA2G6 p.Cys735Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Gln278His
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu133Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu26Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu501Gln
Conflicting
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Glu570Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu570Lys
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Glu772Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Gly307Asp Uncertain significance Single submitter
-
PLA2G6 p.Gly505Asp
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.His157Gln
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.His530Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.His792Tyr Uncertain significance Single submitter
-
PLA2G6 p.Leu291Val
Uncertain significance
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Leu497Phe
Conflicting
Single submitter
PLA2G6-associated neurodegeneration
-
PLA2G6 p.Leu71Phe
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Leu74Pro
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Leu804Phe Uncertain significance Single submitter
- PLA2G6 p.Lys509Asn Uncertain significance Single submitter
- PLA2G6 p.Lys581Asn Uncertain significance Single submitter
-
PLA2G6 p.Lys678Glu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Met302Arg
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Met365Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PLA2G6 p.Met537Arg Likely pathogenic Single submitter
-
PLA2G6 p.Met544Val
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Phe135Val Uncertain significance Single submitter
- PLA2G6 p.Phe549Leu Likely pathogenic Single submitter
-
PLA2G6 p.Phe644Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro118Leu
Conflicting
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Pro290Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLA2G6 p.Pro559Leu
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2B
- PLA2G6 p.Pro593Gln Likely pathogenic Single submitter
-
PLA2G6 p.Pro593Leu
Conflicting
Single submitter
autosomal recessive Parkinson disease 14
-
PLA2G6 p.Pro93His
Uncertain significance
Single submitter
PLA2G6-associated neurodegeneration
- PLA2G6 p.Ser626Leu Uncertain significance Single submitter
- PLA2G6 p.Ser712Arg Uncertain significance Single submitter
-
PLA2G6 p.Thr319Met
Conflicting
Single submitter
neurodegeneration with brain iron accumulation
-
PLA2G6 p.Thr572Ile
Likely pathogenic
Single submitter
neurodegeneration with brain iron accumulation
- PLA2G6 p.Thr720Ile Uncertain significance Single submitter
-
PLA2G6 p.Tyr87Ser
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
- PLA2G6 p.Val127Met Uncertain significance Single submitter
-
PLA2G6 p.Val216Gly
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Val721Ala
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Val779Phe
Uncertain significance
Single submitter
neurodegeneration with brain iron accumulation 2A
-
PLA2G6 p.Arg285Pro
Uncertain significance
No assertion criteria
neurodegeneration with brain iron accumulation 2B
-
PLA2G6 p.Asn214Ser
Uncertain significance
No assertion criteria
Iron accumulation in brain
-
PLA2G6 p.Phe722Ser
Uncertain significance
No assertion criteria
Iron accumulation in brain
-
PLA2G6 p.Phe72Leu
Pathogenic
No assertion criteria
autosomal recessive Parkinson disease 14
All PLA2G6 variants
Pathogenic 69
- c.2276+1G>A Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Arg37Ter Multiple submitters PLA2G6-associated neurodegeneration
- p.Arg635Ter Multiple submitters PLA2G6-associated neurodegeneration
- p.Arg645Ter Multiple submitters PLA2G6-related disorder
- p.Arg70Ter Multiple submitters PLA2G6-related disorder
- p.Asp331Tyr Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Gln178fs Multiple submitters Inborn genetic diseases
- p.Gln73Ter Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Glu751Ter Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Leu354Pro Multiple submitters neurodegeneration with brain iron accumulation
- p.Thr661Met Multiple submitters autosomal recessive Parkinson disease 14
- p.Thr776fs Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Val421fs Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Val691del Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1077+1G>A Single submitter neurodegeneration with brain iron accumulation 2B
- c.1427+2T>C Single submitter PLA2G6-associated neurodegeneration
- c.1743-1G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-1G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-9del Single submitter neurodegeneration with brain iron accumulation 2B
- c.2276+1G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-1G>A Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala268fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala639fs Single submitter PLA2G6-associated neurodegeneration
- p.Ala657Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala742fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg285fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg550fs Single submitter
- p.Arg600fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg612fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp513Ter Single submitter autosomal recessive Parkinson disease 14
- p.Gln173Ter Single submitter Iron accumulation in brain
- p.Gln215Ter Single submitter
- p.Gln43Ter Single submitter PLA2G6-associated neurodegeneration
- p.Gln592fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gln628Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu105fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu166fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu26Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu412fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu501Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu556Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu667Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly347Arg Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly487fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ile279fs Single submitter
- p.Ile492fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Leu107fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Lys509fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Met1Ile Single submitter neurodegeneration with brain iron accumulation 2A
- p.Met274Arg Single submitter Iron accumulation in brain ⚠
- p.Phe563_Leu564insTer Single submitter neurodegeneration with brain iron accumulation 2B
- p.Phe644fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Phe722fs Single submitter Inborn genetic diseases
- p.Pro430fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Pro559fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ser504fs Single submitter Iron accumulation in brain
- p.Trp514Ter Single submitter
- p.Trp55Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Trp715Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Tyr184Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Tyr286fs Single submitter
- p.Tyr555Ter Single submitter neurodegeneration with brain iron accumulation 2A
- p.Val38fs Single submitter autosomal recessive Parkinson disease 14
- c.1427+1G>T No assertion criteria neurodegeneration with brain iron accumulation 2A
- p.Gln452Ter No assertion criteria autosomal recessive Parkinson disease 14
- p.Met544Thr No assertion criteria PLA2G6-associated neurodegeneration
- p.Phe72Leu No assertion criteria autosomal recessive Parkinson disease 14 ⚠
- p.Pro223Gln No assertion criteria neurodegeneration with brain iron accumulation 2B
- p.Val376fs No assertion criteria neurodegeneration with brain iron accumulation 2B
Pathogenic/Likely pathogenic 45
- c.1186+1G>A Multiple submitters PLA2G6-associated neurodegeneration
- c.1186+1G>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1187-1G>A Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1349-2A>G Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1427+1G>A Multiple submitters PLA2G6-related disorder
- c.1592-2A>C Multiple submitters PLA2G6-associated neurodegeneration
- c.1743-2A>G Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.2035-2A>G Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.610-1G>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala357Thr Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala80Thr Multiple submitters autosomal recessive Parkinson disease 14
- p.Arg538Cys Multiple submitters PLA2G6-related disorder
- p.Arg538His Multiple submitters PLA2G6-related disorder
- p.Arg543Cys Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg591Gln Multiple submitters autosomal recessive Parkinson disease 14
- p.Arg591Trp Multiple submitters PLA2G6-associated neurodegeneration
- p.Arg600Gln Multiple submitters neurodegeneration with brain iron accumulation 2B
- p.Arg600Trp Multiple submitters neurodegeneration with brain iron accumulation
- p.Arg632Trp Multiple submitters Autosomal recessive PLA2G6-related disorders
- p.Arg635Gln Multiple submitters PLA2G6-associated neurodegeneration
- p.Arg741Gln Multiple submitters PLA2G6-related disorder ⚠
- p.Arg741Trp Multiple submitters neurodegeneration with brain iron accumulation 2B
- p.Arg745Trp Multiple submitters autosomal recessive Parkinson disease 14
- p.Arg747Trp Multiple submitters PLA2G6-associated neurodegeneration
- p.Asn252fs Multiple submitters PLA2G6-associated neurodegeneration
- p.Cys146fs Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Gln66fs Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Gly340fs Multiple submitters Inborn genetic diseases
- p.Gly373Arg Multiple submitters Inborn genetic diseases
- p.Gly517fs Multiple submitters neurodegeneration with brain iron accumulation
- p.His225Tyr Multiple submitters neurodegeneration with brain iron accumulation
- p.His479Asp Multiple submitters neurodegeneration with brain iron accumulation ⚠
- p.Leu405fs Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Leu481Gln Multiple submitters PLA2G6-associated neurodegeneration
- p.Leu560fs Multiple submitters PLA2G6-associated neurodegeneration
- p.Lys545Arg Multiple submitters PLA2G6-associated neurodegeneration
- p.Lys545Thr Multiple submitters autosomal recessive Parkinson disease 14
- p.Met1Val Multiple submitters PLA2G6-associated neurodegeneration
- p.Ser359= Multiple submitters PLA2G6-associated neurodegeneration
- p.Ser504Leu Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ser557Leu Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ser589fs Multiple submitters PLA2G6-associated neurodegeneration
- p.Trp631Ter Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Trp783Ter Multiple submitters PLA2G6-associated neurodegeneration
- p.Tyr790_Glu791delinsTer Multiple submitters PLA2G6-associated neurodegeneration
Likely pathogenic 56
- c.1078-1G>A Multiple submitters autosomal recessive Parkinson disease 14
- c.1427+1G>C Multiple submitters neurodegeneration with brain iron accumulation
- c.2035-926G>A Multiple submitters PLA2G6-associated neurodegeneration
- p.Ala341Asp Multiple submitters neurodegeneration with brain iron accumulation 2B
- p.Gln100Ter Multiple submitters PLA2G6-associated neurodegeneration
- p.Gln763Ter Multiple submitters neurodegeneration with brain iron accumulation 2B
- p.Glu547Gly Multiple submitters Abnormal brain morphology
- p.Gly638Arg Multiple submitters PLA2G6-associated neurodegeneration
- p.Val371Met Multiple submitters PLA2G6-associated neurodegeneration ⚠
- c.1183_1186+8del Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+5G>A Single submitter PLA2G6-associated neurodegeneration
- c.1592-1G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+2T>G Single submitter neurodegeneration with brain iron accumulation 2B
- c.1880-1G>A Single submitter
- c.2035-1G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2035-274G>A Single submitter neurodegeneration with brain iron accumulation
- c.209+2T>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-1G>A Single submitter autosomal recessive Parkinson disease 14
- c.210-2A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+1G>A Single submitter
- c.609+2T>C Single submitter neurodegeneration with brain iron accumulation 2B
- c.798-1G>T Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala633fs Single submitter
- p.Arg329Cys Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Asn362Ile Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn658Thr Single submitter Iron accumulation in brain ⚠
- p.Asn659Ser Single submitter neurodegeneration with brain iron accumulation 2B ⚠
- p.Cys160Arg Single submitter Iron accumulation in brain
- p.Cys267fs Single submitter autosomal recessive Parkinson disease 14
- p.Gln264Ter Single submitter neurodegeneration with brain iron accumulation 2B
- p.Gln2Lys Single submitter Iron accumulation in brain ⚠
- p.Gln756Ter Single submitter autosomal recessive Parkinson disease 14
- p.Gln86fs Single submitter PLA2G6-related disorder
- p.Glu606fs Single submitter neurodegeneration with brain iron accumulation 2A
- p.Glu784Lys Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly490Asp Single submitter congenital nervous system disorder
- p.His669fs Single submitter neurodegeneration with brain iron accumulation 2B
- p.Leu651fs Single submitter
- p.Leu693fs Single submitter
- p.Leu799His Single submitter Iron accumulation in brain
- p.Lys686fs Single submitter autosomal recessive Parkinson disease 14
- p.Met537Arg Single submitter ⚠
- p.Met544Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met544Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met583Thr Single submitter neurodegeneration with brain iron accumulation 2A
- p.Phe135Ser Single submitter
- p.Phe542Val Single submitter neurodegeneration with brain iron accumulation 2A
- p.Phe549Leu Single submitter ⚠
- p.Phe568Ser Single submitter neurodegeneration with brain iron accumulation 2A
- p.Pro593Gln Single submitter ⚠
- p.Pro641Ala Single submitter congenital nervous system disorder
- p.Pro646His Single submitter PLA2G6-associated neurodegeneration (PLAN)
- p.Pro660Thr Single submitter neurodegeneration with brain iron accumulation 2A
- p.Thr572Ile Single submitter neurodegeneration with brain iron accumulation ⚠
- p.Val506Met Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ser637fs No assertion criteria neurodegeneration with brain iron accumulation
Conflicting classifications of pathogenicity 109
- c.1187-5A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+10G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1428-5T>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1428-8C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+11C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+5G>C Single submitter PLA2G6-associated neurodegeneration
- c.1591+8C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-3del Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-2A>C Single submitter PLA2G6-associated neurodegeneration
- c.2277-6G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+3G>T Single submitter Inborn genetic diseases
- c.895-11G>A Single submitter PLA2G6-associated neurodegeneration
- c.895-4G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-5C>T Single submitter PLA2G6-associated neurodegeneration
- p.Ala147= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala209Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala227Val Single submitter neurodegeneration with brain iron accumulation ⚠
- p.Ala244_Asn247del Single submitter PLA2G6-associated neurodegeneration
- p.Ala300Thr Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala316dup Single submitter neurodegeneration with brain iron accumulation 2B
- p.Ala341Thr Single submitter PLA2G6-associated neurodegeneration
- p.Ala423Thr Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala423Val Single submitter Inborn genetic diseases ⚠
- p.Ala499Thr Single submitter PLA2G6-related disorder ⚠
- p.Ala516Val Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala633Val Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala781Thr Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala80Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg115Cys Single submitter PLA2G6-related disorder ⚠
- p.Arg132= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg139His Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Arg237His Single submitter Inborn genetic diseases ⚠
- p.Arg23Gln Single submitter PLA2G6-related disorder ⚠
- p.Arg329His Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Arg39Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg475Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg538= Single submitter PLA2G6-associated neurodegeneration
- p.Arg538Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg591Leu Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Arg591Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg612Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg70Gln Single submitter spastic ataxia ⚠
- p.Arg710Cys Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Arg710His Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Arg745Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn52Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn658Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp283Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp31Asn Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Asp739His Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Cys332Arg Single submitter Iron accumulation in brain ⚠
- p.Cys750Tyr Single submitter PLA2G6-related disorder ⚠
- p.Gln278His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Gln700Ter Single submitter PLA2G6-associated neurodegeneration
- p.Gln763fs Single submitter autosomal recessive Parkinson disease 14
- p.Gln797Ter Single submitter PLA2G6-associated neurodegeneration
- p.Glu170= Single submitter autosomal recessive Parkinson disease 14
- p.Glu501Gln Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Glu501Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu567Lys Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Glu667Lys Single submitter neurodegeneration with brain iron accumulation 2B ⚠
- p.Glu751Lys Single submitter neurodegeneration with brain iron accumulation
- p.Gly165= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly253Ser Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Gly266Ala Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Gly487del Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly539Ser Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Gly586Arg Single submitter ⚠
- p.Gly653Ser Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Gly740Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His109Asp Single submitter PLA2G6-associated neurodegeneration ⚠
- p.His322= Single submitter PLA2G6-associated neurodegeneration
- p.His432fs Single submitter neurodegeneration with brain iron accumulation
- p.Ile334Met Single submitter ⚠
- p.Ile366Asn Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ile676= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Leu129Pro Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Leu224Pro Single submitter ⚠
- p.Leu321Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu496Phe Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu497Phe Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Leu511Pro Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Lys502Asn Single submitter PLA2G6-associated neurodegeneration
- p.Lys678Glu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met470Val Single submitter Inborn genetic diseases ⚠
- p.Phe262= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Phe599Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro118Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro223Leu Single submitter PLA2G6-related disorder ⚠
- p.Pro353Leu Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Pro443Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro593Leu Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Pro660Arg Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Pro660Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro806Arg Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ser258Leu Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ser34Leu Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ser89Tyr Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Thr319Met Single submitter neurodegeneration with brain iron accumulation ⚠
- p.Thr476Ile Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Thr575= Single submitter PLA2G6-associated neurodegeneration
- p.Thr585Ile Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Thr661= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Trp749Ser Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Tyr790Ter Single submitter PLA2G6-related disorder
- p.Val310Glu Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Val323Met Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Val617Ile Single submitter Inborn genetic diseases ⚠
Benign 55
- c.1348+101C>T Multiple submitters
- c.1348+127C>G Multiple submitters
- c.1349-93C>T Multiple submitters
- c.1428-70T>C Multiple submitters
- c.1743-184C>T Multiple submitters
- c.1743-26C>T Multiple submitters
- c.209+167C>T Multiple submitters
- c.209+16C>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.210-93G>A Multiple submitters
- c.2202+55G>A Multiple submitters
- c.2276+43G>A Multiple submitters
- c.609+28G>T Multiple submitters
- c.609+53G>A Multiple submitters
- c.609+71A>G Multiple submitters
- c.797+35C>T Multiple submitters
- c.797+43C>T Multiple submitters
- c.798-96C>T Multiple submitters
- c.894+39C>T Multiple submitters
- c.894+80C>T Multiple submitters
- c.895-120C>T Multiple submitters
- c.-45-52G>A Multiple submitters
- c.*350C>A Multiple submitters PLA2G6-associated neurodegeneration
- p.Asn362= Multiple submitters PLA2G6-associated neurodegeneration
- p.Thr319= Multiple submitters PLA2G6-associated neurodegeneration
- p.Val29= Multiple submitters PLA2G6-associated neurodegeneration
- p.Val58Ile Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1077+115T>A Single submitter
- c.1078-20C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+17C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+314C>T Single submitter
- c.1186+322A>G Single submitter
- c.1187-14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1428-248A>G Single submitter
- c.1591+131_1591+140del Single submitter
- c.1591+305C>A Single submitter
- c.1592-286A>G Single submitter
- c.1742+253GGCTCTGCCCTGCC[3] Single submitter
- c.210-1793A>G Single submitter
- c.210-276C>T Single submitter
- c.2203-144C>T Single submitter
- c.2203-41G>C Single submitter
- c.425+179A>G Single submitter
- c.426-309T>C Single submitter
- c.609+200G>A Single submitter
- c.609+256A>G Single submitter
- c.609+290A>G Single submitter
- c.610-292A>G Single submitter
- c.610-307G>C Single submitter
- c.798-22A>T Single submitter
- c.894+243C>A Single submitter
- c.-45-226G>A Single submitter
- c.*183_*187del Single submitter
- c.*301G>A Single submitter PLA2G6-associated neurodegeneration
- p.Cys134= Single submitter neurodegeneration with brain iron accumulation 2A
Benign/Likely benign 9
- c.1742+12C>T Multiple submitters PLA2G6-associated neurodegeneration
- c.1743-137G>A Multiple submitters
- p.Ala324= Multiple submitters PLA2G6-associated neurodegeneration
- p.Ala343Thr Multiple submitters Parkinson disease
- p.Arg63Gly Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn780= Multiple submitters PLA2G6-associated neurodegeneration
- p.Gly13= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Phe330= Multiple submitters PLA2G6-associated neurodegeneration
- p.Thr785= Multiple submitters neurodegeneration with brain iron accumulation 2A
Likely benign 462
Showing the top 300 by review status; the full set is in the sitemap.
- c.1077+16C>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1348+48C>T Multiple submitters
- c.1348+92C>T Multiple submitters
- c.1348+93G>A Multiple submitters
- c.1349-13C>G Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1428-7A>G Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1742+23C>T Multiple submitters
- c.1880-8G>A Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.209+9dup Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.2203-95C>G Multiple submitters
- c.2277-67T>C Multiple submitters
- c.2277-7C>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.426-141T>G Multiple submitters
- c.426-6C>T Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.609+27T>C Multiple submitters
- c.894+47G>A Multiple submitters
- p.Ala268= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala294= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala316= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala343= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala464= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala516= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Arg329= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Arg550= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn116= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn149= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn208= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn252= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn296= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asn9= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asp472= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asp652= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Asp79= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Cys57= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Gly373= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ile498= Multiple submitters Inborn genetic diseases
- p.Leu202= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Leu76= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Lys686= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Phe372= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Pro223= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Pro353= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Pro422= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Pro593= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ser315= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ser34= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ser458= Multiple submitters
- p.Thr111= Multiple submitters Inborn genetic diseases
- p.Tyr286= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Tyr555= Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1077+12A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1077+14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1077+15G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1077+15G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1077+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1077+17G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-10T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-12C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-14T>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-14T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-15C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-18TC[2] Single submitter neurodegeneration with brain iron accumulation 2A
- c.1078-20C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+10C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+13_1186+19del Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+14A>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+18_1186+19del Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+7G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1186+7G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1187-10C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1187-17C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1187-4C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1187-7T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+11_1348+17dup Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+12C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+15C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+16C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1348+19C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1349-13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1349-18C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1349-4A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1349-6T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1349-7C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+11C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+11C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+12G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+18G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+19G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+20G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1427+7G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1428-15C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1428-237C>A Single submitter
- c.1591+10G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+18G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+18G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+19G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+19G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+20A>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+276G>A Single submitter
- c.1591+7G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1591+9G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-10T>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-15C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-17G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-19C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-206G>T Single submitter
- c.1592-9del Single submitter neurodegeneration with brain iron accumulation 2A
- c.1592-9T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+10G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+12C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+13G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+13G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+7C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+8C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1742+9T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-11T>C Single submitter
- c.1743-15C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-16C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-20_1743-18del Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-6C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-7T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1743-8C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1879+10A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1879+18T>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1879+18T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.1879+8C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.1879+9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-11C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-16C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-6C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-7C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.1880-9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2034+10G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2034+10G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2034+9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2035-17del Single submitter neurodegeneration with brain iron accumulation 2A
- c.2035-7C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2035-822G>A Single submitter
- c.2035-870C>A Single submitter
- c.2035-906A>C Single submitter
- c.209+15G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.209+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-20C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-4A>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.210-4A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+14C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+19C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+286C>T Single submitter
- c.2202+7G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+9G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2203-11C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2203-15G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2203-161del Single submitter
- c.2203-16G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2203-201C>T Single submitter
- c.2203-20C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2203-269T>G Single submitter
- c.2203-45G>A Single submitter
- c.2203-6C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+10C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+15G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+19C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+43G>C Single submitter
- c.2276+7del Single submitter neurodegeneration with brain iron accumulation 2A
- c.2276+9T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-13C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-15C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-4A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-7C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2277-9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+14C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+16A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+17G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+19C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.425+464C>T Single submitter
- c.426-14G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.426-15G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.426-16T>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.426-4G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.426-9C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+11G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+13A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+14G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+16G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+17G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.609+20G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.610-10C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.610-12C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.610-15T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.610-18C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.610-6C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.797+11C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.797+12T>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.797+15C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.797+19C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.797+235_797+236del Single submitter
- c.798-11TC[2] Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-12C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-12C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-14C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-16G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-19G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-20C>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-20C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-6C>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-6C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+12del Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+15A>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+16G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+18T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+18T>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+20G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+22T>G Single submitter
- c.894+40G>A Single submitter
- c.895-10T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-12C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-16T>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-17C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-18C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-19G>C Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-19G>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.895-7C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.-45-146C>T Single submitter
- c.-8C>T Single submitter
- c.*148C>T Single submitter
- c.*230C>G Single submitter
- c.*589C>G Single submitter PLA2G6-associated neurodegeneration
- c.*81G>T Single submitter
- p.Ala159= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala227= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala288= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala30= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala320= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala401= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala411= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala423= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala428= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala429= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala525= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala633= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala634= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala639= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala664= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala718= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ala781= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg237= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg301= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg346= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg461= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg53= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg543= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg620= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg632= Single submitter
- p.Arg649= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg697= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg741= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg793= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn16= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn214= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn247= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn309= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn342= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn380= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn447= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn614= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn616= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn64Ser Single submitter Inborn genetic diseases
- p.Asn658= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asn682= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp197= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp283= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp331= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp510= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp576= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp603= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Asp739= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Cys146= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Cys153= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Cys175= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Cys705= Single submitter neurodegeneration with brain iron accumulation 2A
Uncertain significance 361
Showing the top 300 by review status; the full set is in the sitemap.
- c.209+6T>C Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.2202+5G>A Multiple submitters PLA2G6-associated neurodegeneration
- c.*160T>C Multiple submitters PLA2G6-associated neurodegeneration
- p.Ala147Thr Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala268Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala324Val Multiple submitters autosomal recessive Parkinson disease 14
- p.Ala343Glu Multiple submitters neurodegeneration with brain iron accumulation 2B
- p.Ala343Val Multiple submitters Parkinson disease ⚠
- p.Ala464Val Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala525Thr Multiple submitters Iron accumulation in brain ⚠
- p.Ala718Thr Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ala746Ser Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Arg115His Multiple submitters Inborn genetic diseases ⚠
- p.Arg132His Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg139Cys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg161Cys Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Arg23Trp Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg245Trp Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg285His Multiple submitters Inborn genetic diseases ⚠
- p.Arg301Cys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg306Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg306Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg346Cys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg346His Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg459Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg461Trp Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg475Trp Multiple submitters ⚠
- p.Arg543His Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg550Gln Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Arg550Trp Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg566Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg609Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg612Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg612His Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg635Gly Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg635Leu Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Arg677Cys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg677Leu Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg6Cys Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg747Gln Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Arg793Cys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn145Ser Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn309Lys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn616His Multiple submitters PLA2G6-related disorder ⚠
- p.Asn9Ser Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp183Asn Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp331Asn Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Asp453Val Multiple submitters Inborn genetic diseases
- p.Asp472Asn Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Cys143Tyr Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Cys332Ser Multiple submitters PLA2G6-associated neurodegeneration
- p.Cys750Arg Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu150Lys Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu412Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu473Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu562Gly Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Gly350Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly679Ser Multiple submitters Inborn genetic diseases ⚠
- p.His349Gln Multiple submitters Inborn genetic diseases ⚠
- p.His349Pro Multiple submitters ⚠
- p.His792Pro Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Ile141del Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ile271Thr Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ile402Asn Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Leu467Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu491Arg Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Leu511Val Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Leu596Phe Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu662Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys185Arg Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Lys25Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met326Thr Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Met534Val Multiple submitters Inborn genetic diseases ⚠
- p.Met665Val Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Phe563Leu Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro251Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro416Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro62Leu Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro711Arg Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro806Ser Multiple submitters ⚠
- p.Ser263Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser35Asn Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ser504= Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Ser519Thr Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Ser89Phe Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Thr10Asn Multiple submitters autosomal recessive Parkinson disease 14 ⚠
- p.Thr575Met Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Thr642Ala Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Thr766Met Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Tyr555Cys Multiple submitters PLA2G6-related disorder ⚠
- p.Val238Met Multiple submitters Inborn genetic diseases ⚠
- p.Val409Met Multiple submitters Inborn genetic diseases ⚠
- p.Val630Leu Multiple submitters neurodegeneration with brain iron accumulation 2A
- p.Val690Ile Multiple submitters PLA2G6-associated neurodegeneration ⚠
- p.Val701Met Multiple submitters neurodegeneration with brain iron accumulation 2A ⚠
- p.Val753Phe Multiple submitters neurodegeneration with brain iron accumulation 2A
- c.1077+5G>A Single submitter
- c.1078-3C>A Single submitter PLA2G6-associated neurodegeneration
- c.1186+3A>G Single submitter neurodegeneration with brain iron accumulation 2A
- c.2035-55G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.209+4G>A Single submitter neurodegeneration with brain iron accumulation 2A
- c.2202+4A>G Single submitter
- c.2276+71C>G Single submitter
- c.426-3C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.798-3C>T Single submitter neurodegeneration with brain iron accumulation 2A
- c.894+6T>G Single submitter PLA2G6-associated neurodegeneration
- c.894+8G>A Single submitter PLA2G6-associated neurodegeneration
- c.-15C>T Single submitter PLA2G6-associated neurodegeneration
- c.-20C>A Single submitter PLA2G6-associated neurodegeneration
- c.-31C>T Single submitter PLA2G6-associated neurodegeneration
- c.-45-13C>A Single submitter
- c.*191C>T Single submitter PLA2G6-associated neurodegeneration
- c.*19C>T Single submitter
- c.*35C>T Single submitter PLA2G6-associated neurodegeneration
- c.*473C>T Single submitter PLA2G6-associated neurodegeneration
- c.*493C>G Single submitter PLA2G6-associated neurodegeneration
- c.*515C>T Single submitter PLA2G6-associated neurodegeneration
- c.*541C>T Single submitter PLA2G6-associated neurodegeneration
- c.*548C>G Single submitter PLA2G6-associated neurodegeneration
- c.*565C>G Single submitter PLA2G6-associated neurodegeneration
- c.*620G>A Single submitter PLA2G6-associated neurodegeneration
- c.*672G>A Single submitter PLA2G6-associated neurodegeneration
- c.*676T>C Single submitter PLA2G6-associated neurodegeneration
- p.Ala144Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala147Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala259Asp Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Ala268Gly Single submitter Inborn genetic diseases
- p.Ala294Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala297Thr Single submitter Inborn genetic diseases ⚠
- p.Ala343Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala345Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala390Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala429Val Single submitter ⚠
- p.Ala460Thr Single submitter Inborn genetic diseases ⚠
- p.Ala464Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala499Val Single submitter ⚠
- p.Ala535Asp Single submitter ⚠
- p.Ala724Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Ala742Ser Single submitter Inborn genetic diseases ⚠
- p.Ala742Val Single submitter Inborn genetic diseases
- p.Arg132Cys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg161His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg237Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg245Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg285Cys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg301Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg301Ser Single submitter ⚠
- p.Arg327Cys Single submitter neurodegeneration with brain iron accumulation 2A
- p.Arg37Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg39Trp Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg459Gln Single submitter Inborn genetic diseases ⚠
- p.Arg461Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg53His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg543Leu Single submitter ⚠
- p.Arg543Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg566Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg578Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg632Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg649Cys Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Arg649His Single submitter ⚠
- p.Arg677His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg697Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg6His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg6Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Arg710fs Single submitter PLA2G6-associated neurodegeneration
- p.Arg741Gly Single submitter PLA2G6-related disorder ⚠
- p.Asn318Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn318Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asn52Asp Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asn61Ser Single submitter Inborn genetic diseases ⚠
- p.Asn659= Single submitter PLA2G6-associated neurodegeneration
- p.Asn713Ser Single submitter Inborn genetic diseases ⚠
- p.Asn780Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp112Glu Single submitter
- p.Asp164His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Asp361Asn Single submitter Inborn genetic diseases ⚠
- p.Asp472Glu Single submitter ⚠
- p.Asp484Gly Single submitter ⚠
- p.Asp56His Single submitter Inborn genetic diseases ⚠
- p.Asp627Asn Single submitter ⚠
- p.Asp663Val Single submitter ⚠
- p.Asp737Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys146Arg Single submitter Inborn genetic diseases ⚠
- p.Cys160Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Cys175Tyr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Cys246Arg Single submitter ⚠
- p.Cys705Phe Single submitter ⚠
- p.Cys735Arg Single submitter Inborn genetic diseases ⚠
- p.Cys735Phe Single submitter ⚠
- p.Cys735Ser Single submitter Inborn genetic diseases ⚠
- p.Gln178His Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Gln203= Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gln440Glu Single submitter ⚠
- p.Gln763His Single submitter Inborn genetic diseases ⚠
- p.Gln801Glu Single submitter Inborn genetic diseases ⚠
- p.Gln90Glu Single submitter ⚠
- p.Glu133Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu26Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu40Gly Single submitter ⚠
- p.Glu473Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu562Asp Single submitter ⚠
- p.Glu570Gly Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu570Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu772Asp Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu77Lys Single submitter Inborn genetic diseases ⚠
- p.Glu786Asp Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Glu786Gln Single submitter ⚠
- p.Glu786Lys Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Gly13Ala Single submitter ⚠
- p.Gly152Val Single submitter neurodegeneration with brain iron accumulation 2A
- p.Gly186Glu Single submitter ⚠
- p.Gly212Asp Single submitter ⚠
- p.Gly220Arg Single submitter Iron accumulation in brain ⚠
- p.Gly231Arg Single submitter ⚠
- p.Gly231Glu Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly253Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Gly266Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Gly307Asp Single submitter ⚠
- p.Gly340Arg Single submitter PLA2G6-associated neurodegeneration
- p.Gly394Ser Single submitter ⚠
- p.Gly420Arg Single submitter ⚠
- p.Gly505Asp Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Gly517Cys Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Gly551Ser Single submitter ⚠
- p.Gly558Arg Single submitter ⚠
- p.Gly754Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His103_Leu107del Single submitter
- p.His124Tyr Single submitter neurodegeneration with brain iron accumulation 2B ⚠
- p.His136Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His157Gln Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His157Pro Single submitter ⚠
- p.His339Tyr Single submitter ⚠
- p.His349Asp Single submitter Inborn genetic diseases ⚠
- p.His355Tyr Single submitter ⚠
- p.His419Tyr Single submitter ⚠
- p.His456Pro Single submitter ⚠
- p.His479Tyr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His530Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.His571Arg Single submitter Inborn genetic diseases ⚠
- p.His792Gln Single submitter PLA2G6-associated neurodegeneration ⚠
- p.His792Tyr Single submitter ⚠
- p.Ile272del Single submitter
- p.Ile402Thr Single submitter neurodegeneration with brain iron accumulation 2A
- p.Ile418Phe Single submitter ⚠
- p.Ile668Met Single submitter Inborn genetic diseases
- p.Ile676Phe Single submitter Inborn genetic diseases ⚠
- p.Ile689Phe Single submitter ⚠
- p.Ile689Ser Single submitter Iron accumulation in brain
- p.Ile789Phe Single submitter
- p.Leu240Pro Single submitter PLA2G6-associated neurodegeneration ⚠
- p.Leu291Val Single submitter autosomal recessive Parkinson disease 14 ⚠
- p.Leu304Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu396Phe Single submitter ⚠
- p.Leu454Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu483Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu529Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu596Ile Single submitter ⚠
- p.Leu71Phe Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu74Pro Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu7Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Leu804Phe Single submitter ⚠
- p.Lys265Glu Single submitter Inborn genetic diseases ⚠
- p.Lys474Asn Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Lys489Glu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Lys509Asn Single submitter ⚠
- p.Lys581Asn Single submitter ⚠
- p.Lys725Arg Single submitter ⚠
- p.Lys798Gln Single submitter Inborn genetic diseases ⚠
- p.Met179Thr Single submitter Inborn genetic diseases ⚠
- p.Met249Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met270Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met299Thr Single submitter Inborn genetic diseases
- p.Met299Val Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met302Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met365Thr Single submitter Inborn genetic diseases ⚠
- p.Met534Lys Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met537Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met537Val Single submitter Inborn genetic diseases ⚠
- p.Met540Ile Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met583Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Met769Thr Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Phe135Val Single submitter ⚠
- p.Phe330Leu Single submitter ⚠
- p.Phe382Ser Single submitter Inborn genetic diseases ⚠
- p.Phe512Ile Single submitter ⚠
- p.Phe644Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Phe650Cys Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro21Leu Single submitter Inborn genetic diseases ⚠
- p.Pro290Ala Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro290Leu Single submitter Inborn genetic diseases ⚠
- p.Pro290Ser Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro379Ala Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro386Arg Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro422Leu Single submitter neurodegeneration with brain iron accumulation 2A ⚠
- p.Pro430Ser Single submitter ⚠
- p.Pro559Leu Single submitter neurodegeneration with brain iron accumulation 2B ⚠
- p.Pro559Ser Single submitter neurodegeneration with brain iron accumulation 2A