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.

Predictors agree, ClinVar conflicts 59

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

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

Predictors split 93

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

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

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.