Sugi Variant

Sugi Variant/COQ4

COQ4 — 335 ClinVar variants

All ClinVar germline COQ4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

19 Pathogenic · 7 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 18 Conflicting · 14 Benign · 4 Benign/Likely benign · 138 Likely benign · 119 Uncertain significance

Full COQ4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 82

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

Predictors split 20

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

All COQ4 variants

Pathogenic 19

  • p.Gly124Ser Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val8fs Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+1G>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala23fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg102His Single submitter spastic ataxia ⚠
  • p.Arg129fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Asp68Asn Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gln48Ter Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu75Ter Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly124Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu47fs Single submitter
  • p.Pro7fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr44fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Trp221Ter Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg145Gly No assertion criteria neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg240His No assertion criteria spastic ataxia 10, autosomal recessive ⚠
  • p.Arg30Ter No assertion criteria spastic ataxia 10, autosomal recessive
  • p.Leu52Ser No assertion criteria neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr174del No assertion criteria neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Pathogenic/Likely pathogenic 7

  • c.402+1G>A Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.402+1G>C Multiple submitters COQ4-related disorder
  • p.Arg141Ter Multiple submitters COQ4-related disorder
  • p.Arg205Ter Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg240Cys Multiple submitters spastic ataxia ⚠
  • p.Asp68His Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu101Ter Multiple submitters COQ4-related disorder

Likely pathogenic 16

  • c.300-2A>G Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala71Thr Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.299+1G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.627-1G>A Single submitter spastic ataxia 10, autosomal recessive
  • c.70+1G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+2C>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+2C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg160Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gln19Ter Single submitter Inborn genetic diseases
  • p.Ile180fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu177fs Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Met1Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser137fs Single submitter spastic ataxia 10, autosomal recessive
  • p.Thr144Asn Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Thr77Ile Single submitter Developmental disorder
  • p.Val70fs Single submitter COQ4-related disorder

Conflicting classifications of pathogenicity 18

  • c.202+4A>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+7G>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-5C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala153Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg102Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg10Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg158Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg66Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gln157Lys Single submitter COQ4-related disorder ⚠
  • p.Gly95Asp Single submitter spastic ataxia ⚠
  • p.Met1Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Met69Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Phe146Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro119Leu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro16Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro193Ser Single submitter spastic ataxia ⚠
  • p.Pro36Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro64Ser Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠

Benign 14

  • c.202+198G>T Multiple submitters
  • c.299+189C>T Multiple submitters
  • c.299+57C>G Multiple submitters
  • c.300-51G>A Multiple submitters
  • c.402+304C>T Multiple submitters
  • c.402+54G>A Multiple submitters
  • c.533-17A>C Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+110C>T Multiple submitters
  • c.-25C>T Multiple submitters
  • p.Ala142Thr Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg20Gln Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser106= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-221G>A Single submitter
  • p.Asp32Glu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Benign/Likely benign 4

  • p.Arg205Gln Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu161Asp Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly50Ala Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro16= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Likely benign 138

  • c.202+140C>T Multiple submitters
  • c.202+14C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.202+20G>A Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.202+8C>A Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-17C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-55C>T Multiple submitters
  • c.402+213C>T Multiple submitters
  • c.532+12C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.532+16C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.533-139C>T Multiple submitters
  • c.627-6C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+11C>T Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.-20C>G Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala60= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg227= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly207= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.His260= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu152= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro119= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro220= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro257= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro7= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser122= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser216= Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.202+6G>A Single submitter
  • c.202+9G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.202+9G>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-12C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-15T>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-16G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-17C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-18C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.203-8C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.299+11G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.299+12C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.299+14C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.299+17_299+24del Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-11T>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-16A>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-18C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-247_300-235del Single submitter
  • c.300-4T>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.300-8C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.402+13C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.402+20G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.403-28G>T Single submitter
  • c.403-35C>T Single submitter
  • c.403-4T>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.532+41G>A Single submitter
  • c.532+78C>T Single submitter
  • c.532+8C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.532+9C>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.532+9C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.533-11C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+10C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+13G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+17T>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.626+27G>A Single submitter
  • c.626+7T>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.627-7C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+10G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+10G>C Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+15G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+18C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+18C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+7G>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-12C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-19C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-5C>T Single submitter
  • c.71-7C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.-11C>A Single submitter
  • c.-12A>G Single submitter
  • c.-17C>T Single submitter
  • c.*259G>C Single submitter
  • p.Ala142= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala222= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala256Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg11= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg125Cys Single submitter ⚠
  • p.Arg141= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg145= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg20= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg6= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg80= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Asn225= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Cys195= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gln116= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu126= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu250= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly14= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly33= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly35= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gly95= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.His163= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.His167= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.His40= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.His79= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ile156= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ile180= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu110= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu112= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu123= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu131= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu177= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu18= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu211= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu214= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu245= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu248= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu264= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu27= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu4= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu42= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu51= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Leu82= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Phe146= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Phe200= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro143= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro203= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro258= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Pro64= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser108= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser137= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser39= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ser56= Single submitter
  • p.Thr107= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr144= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr174= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr255= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Thr44= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val136= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val213= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val223= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val70= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val72= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val8= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Val84= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg66= No assertion criteria COQ4-related disorder

Uncertain significance 119

  • c.202+4A>G Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala265Val Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg104Gln Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg125His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg129Cys Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg227Cys Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg227His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg66Gly Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg6His Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg80Cys Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asn234Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Glu126Lys Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gly178Glu Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gly226Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly35Arg Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gly35Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly55Val Multiple submitters spastic ataxia 10, autosomal recessive ⚠
  • p.Met194Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro203Leu Multiple submitters Inborn genetic diseases
  • p.Pro46Arg Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro7Ser Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ser106Leu Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ser45Phe Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Trp184Arg Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Tyr154Phe Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Val181Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val261Ile Multiple submitters neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • c.532+5G>A Single submitter
  • c.532+6T>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.70+6T>A Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-3C>G Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • c.71-3C>T Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Ala199Thr Single submitter spastic ataxia 10, autosomal recessive
  • p.Ala208Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala22Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ala29Pro Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ala34Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ala71Ser Single submitter ⚠
  • p.Ala96Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg104Trp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg10Pro Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg11Pro Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg11Trp Single submitter ⚠
  • p.Arg125= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Arg145Cys Single submitter spastic ataxia 10, autosomal recessive ⚠
  • p.Arg145His Single submitter Fetal anomalies with a likely genetic cause ⚠
  • p.Arg228Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg239Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg239Trp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg249Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg249Trp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Arg28Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg91del Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Asn134= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Asn134Asp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp111Asn Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp132His Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp139Glu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp148Gly Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp149His Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Asp164Asn Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp32His Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Asp32Tyr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Cys231Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln100= Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Gln209= Single submitter
  • p.Gln224Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln48His Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gln88Glu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gln97Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu161Gly Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Glu179Lys Single submitter ⚠
  • p.Glu217Lys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Glu238Ter Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Glu250Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu250Lys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Glu251Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Glu75Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gly121Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly121Val Single submitter Inborn genetic diseases
  • p.Gly14Trp Single submitter Inborn genetic diseases ⚠
  • p.Gly17Asp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Gly95Ser Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.His163Arg Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.His260Arg Single submitter ⚠
  • p.His260Gln Single submitter Inborn genetic diseases ⚠
  • p.His41Arg Single submitter
  • p.Ile204Thr Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu118Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu15Pro Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu170Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu248Pro Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu252Met Single submitter Inborn genetic diseases ⚠
  • p.Leu4Gln Single submitter ⚠
  • p.Leu4Val Single submitter Inborn genetic diseases ⚠
  • p.Lys114Glu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Met165Val Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Met1Arg Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • p.Phe201Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro103His Single submitter ⚠
  • p.Pro21Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro230Gln Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro258Ser Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Pro43Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser117Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser210Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser216Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser31Asn Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ser31Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ser39Ala Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Ser45Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Thr107Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr154Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Tyr237Cys Single submitter spastic ataxia 10, autosomal recessive
  • p.Tyr62Cys Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Val133Leu Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Val133Met Single submitter ⚠
  • p.Val8Asp Single submitter neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ⚠
  • p.Leu85Phe No assertion criteria