EARS2 — 373 ClinVar variants
All ClinVar germline EARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →
15 Pathogenic · 7 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 27 Conflicting · 32 Benign · 6 Benign/Likely benign · 86 Likely benign · 185 Uncertain significance
Full EARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 180
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 7
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
EARS2 p.Arg107His
Pathogenic/Likely pathogenic
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg108Trp
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Gly110Ser
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Ala112Pro
Likely pathogenic
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Ala98Val Likely pathogenic Single submitter
-
EARS2 p.Glu96Lys
Pathogenic
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg107Cys
Likely pathogenic
No assertion criteria
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EARS2 p.Ala272Thr
Conflicting
Single submitter
arthrogryposis multiplex congenita
-
EARS2 p.Ala88Glu
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg516Gln
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Glu349Lys
Conflicting
Single submitter
mitochondrial disease
-
EARS2 p.Gly34Arg
Conflicting
Single submitter
Inborn genetic diseases
-
EARS2 p.Gly431Ala
Conflicting
Single submitter
Inborn genetic diseases
- EARS2 p.Leu465Pro Conflicting Single submitter
-
EARS2 p.Met94Val
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Phe293Ser
Conflicting
Single submitter
Inborn genetic diseases
-
EARS2 p.Val292Ile
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Val83Phe
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EARS2 p.Arg188His
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Arg516Gly Uncertain significance Multiple submitters
-
EARS2 p.Arg55Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg55His
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg82Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Gly451Val
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Leu345Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Ser286Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Tyr163Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Val244Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Val83Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EARS2 p.Ala130Val Uncertain significance Single submitter
-
EARS2 p.Ala88Val
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg120Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Arg188Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Arg288Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Arg288Thr Uncertain significance Single submitter
- EARS2 p.Arg40Gln Uncertain significance Single submitter
-
EARS2 p.Arg427His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Arg489Trp
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg516Trp
Uncertain significance
Single submitter
mitochondrial disease
-
EARS2 p.Arg82His
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Asn335Ser Uncertain significance Single submitter
-
EARS2 p.Asp236Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Asp347Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Asp79Val
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Cys142Ser
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Cys411Gly Uncertain significance Single submitter
-
EARS2 p.Gln10His
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Gln172Arg Uncertain significance Single submitter
- EARS2 p.Gln199Arg Uncertain significance Single submitter
-
EARS2 p.Gln333His
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Gln518Arg Uncertain significance Single submitter
-
EARS2 p.Glu12Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Glu249Gln
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly247Ser
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly30Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Gly467Ala Uncertain significance Single submitter
- EARS2 p.Gly494Glu Uncertain significance Single submitter
- EARS2 p.His158Gln Uncertain significance Single submitter
-
EARS2 p.His229Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.His243Arg
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.His270Arg Uncertain significance Single submitter
- EARS2 p.Ile100Thr Uncertain significance Single submitter
-
EARS2 p.Ile187Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Ile311Val Uncertain significance Single submitter
-
EARS2 p.Leu230Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Leu336Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Leu405Pro Uncertain significance Single submitter
-
EARS2 p.Leu452Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Lys181Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Lys470Arg
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Met239Thr Uncertain significance Single submitter
-
EARS2 p.Met504Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Met94Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Pro101Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Pro14Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Pro21Thr Uncertain significance Single submitter
- EARS2 p.Pro304His Uncertain significance Single submitter
- EARS2 p.Pro43Ser Uncertain significance Single submitter
-
EARS2 p.Ser15Pro
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Ser459Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Thr479Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Thr81Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Trp97Arg Uncertain significance Single submitter
-
EARS2 p.Tyr203Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Tyr67Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Val202Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Val233Leu Uncertain significance Single submitter
- EARS2 p.Val399Leu Uncertain significance Single submitter
- EARS2 p.Val399Met Uncertain significance Single submitter
Predictors split 91
The independent predictors disagree with each other — read with care.
-
EARS2 p.Ala263Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Ala299Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg11Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg156Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg162Trp
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg166Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg361Trp
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg514Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Arg6Gly
Benign/Likely benign
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Asp182Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Asp305Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Glu349Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EARS2 p.Glu366Asp Uncertain significance Multiple submitters
-
EARS2 p.Gly135Arg
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly204Ser
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly451Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Ile62Phe
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Leu123Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Lys66Met
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Pro328Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Ser306Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EARS2 p.Tyr398Cys
Uncertain significance
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Val194Met
Benign
Multiple submitters
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Ala197Val Uncertain significance Single submitter
- EARS2 p.Ala272Ser Uncertain significance Single submitter
- EARS2 p.Ala36Thr Uncertain significance Single submitter
- EARS2 p.Ala383Asp Uncertain significance Single submitter
- EARS2 p.Ala433Thr Uncertain significance Single submitter
- EARS2 p.Ala507Pro Uncertain significance Single submitter
-
EARS2 p.Arg146Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Arg156Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Arg162Gln Uncertain significance Single submitter
-
EARS2 p.Arg190Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Arg190His
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Arg190Leu Uncertain significance Single submitter
-
EARS2 p.Arg24Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Arg361Gln Uncertain significance Single submitter
- EARS2 p.Arg369Ser Uncertain significance Single submitter
-
EARS2 p.Arg412Cys
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg412His
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Arg6Lys
Likely benign
Single submitter
Inborn genetic diseases
-
EARS2 p.Asn165Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Asp223Asn
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Asp309Glu Uncertain significance Single submitter
-
EARS2 p.Asp415Asn
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Asp443Tyr
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Gln119His Uncertain significance Single submitter
-
EARS2 p.Gln389Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Gln496His Uncertain significance Single submitter
-
EARS2 p.Glu96Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Gly224Ser
Conflicting
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly240Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Gly265Ala Uncertain significance Single submitter
- EARS2 p.Gly30Asp Uncertain significance Single submitter
- EARS2 p.Gly317Ser Likely pathogenic Single submitter
-
EARS2 p.Gly451Arg
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Gly99Ala
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.His342Tyr Uncertain significance Single submitter
-
EARS2 p.Leu264Val
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Leu274Val Uncertain significance Single submitter
-
EARS2 p.Leu372Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Leu453Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Leu4Pro Uncertain significance Single submitter
- EARS2 p.Leu5Pro Uncertain significance Single submitter
- EARS2 p.Lys152Met Uncertain significance Single submitter
-
EARS2 p.Lys284Arg
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Lys470Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Lys470Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Lys65Glu
Pathogenic
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Phe293Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Pro106Ala
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Pro114Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Pro185Leu
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Ser222Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Ser422Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Ser439Leu Uncertain significance Single submitter
-
EARS2 p.Ser70Asn
Conflicting
Single submitter
Inborn genetic diseases
-
EARS2 p.Ser70Ile
Conflicting
Single submitter
Inborn genetic diseases
-
EARS2 p.Thr134Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Thr160Met Uncertain significance Single submitter
- EARS2 p.Thr227Ala Uncertain significance Single submitter
-
EARS2 p.Thr254Ala
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Thr332Pro
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
-
EARS2 p.Val292Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- EARS2 p.Val292Phe Uncertain significance Single submitter
- EARS2 p.Val339Ile Uncertain significance Single submitter
-
EARS2 p.Val339Phe
Uncertain significance
Single submitter
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- EARS2 p.Val417Met Uncertain significance Single submitter
-
EARS2 p.Val484Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Val84Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EARS2 p.Val292Leu
Uncertain significance
No assertion criteria
EARS2-related disorder
All EARS2 variants
Pathogenic 15
- p.Lys471fs Multiple submitters
- p.Ser143Ter Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.(?_-8 Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gln126Ter Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gln387Ter Single submitter
- p.Gln414Ter Single submitter
- p.Glu249Ter Single submitter
- p.Glu96Lys Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly317Cys Single submitter
- p.Leu424fs Single submitter
- p.Lys65Glu Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Lys66fs Single submitter
- p.Tyr228Ter Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Tyr398Ter Single submitter
- p.Pro428fs No assertion criteria leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Pathogenic/Likely pathogenic 7
- p.Arg107His Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg108Trp Multiple submitters Inborn genetic diseases ⚠
- p.Cys140fs Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Cys167Tyr Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gly110Ser Multiple submitters Inborn genetic diseases ⚠
- p.Met1Val Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Phe71fs Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Likely pathogenic 15
- c.295+2T>C Single submitter
- c.485+1G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.958+1G>A Single submitter
- p.Ala112Pro Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Ala98Val Single submitter ⚠
- p.Cys167Arg Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gln117Ter Single submitter EARS2-related disorder
- p.Gln68Ter Single submitter
- p.Gly240fs Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gly317Ser Single submitter ⚠
- p.Leu307Ser Single submitter
- p.Lys151Ter Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Val234Leu Single submitter
- p.Arg107Cys No assertion criteria leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Ser316Ter No assertion criteria leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Conflicting classifications of pathogenicity 27
- c.1488+15C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.1488+16G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.1489-14C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.958+4C>T Single submitter
- c.959-15C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ala272Thr Single submitter arthrogryposis multiplex congenita ⚠
- p.Ala88Glu Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg190His Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg412Cys Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg516Gln Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Asp223Asn Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Asp291= Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Asp415Asn Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gln117= Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Glu349Lys Single submitter mitochondrial disease ⚠
- p.Gly224Ser Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly34Arg Single submitter Inborn genetic diseases ⚠
- p.Gly431Ala Single submitter Inborn genetic diseases ⚠
- p.Leu357= Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Leu465Pro Single submitter ⚠
- p.Met94Val Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Phe293Ser Single submitter Inborn genetic diseases ⚠
- p.Ser70Asn Single submitter Inborn genetic diseases ⚠
- p.Ser70Ile Single submitter Inborn genetic diseases ⚠
- p.Thr426_Arg427insPro Single submitter fetal akinesia deformation sequence 1
- p.Val292Ile Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Val83Phe Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1068-5C>T Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.1352+25G>A Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.1488+199A>G Multiple submitters
- c.1488+34G>A Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.485+109G>A Multiple submitters
- c.*12T>G Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1443C>G Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1594C>T Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*2156T>G Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*400A>G Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ala88= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Pro328= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ser457Gly Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Thr134= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Val194Met Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Val202= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.1489-210dup Single submitter
- c.295+286A>G Single submitter
- c.958+231T>C Single submitter
- c.959-209C>T Single submitter
- c.-9C>T Single submitter
- c.+12T>G Single submitter
- c.*1099A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1233C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1362T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1388C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1498A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*2294T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*715G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*755C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Asp235= Single submitter
- p.Leu5= Single submitter
Benign/Likely benign 6
- p.Arg6Gly Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg82= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Lys287= Multiple submitters
- p.Lys471Thr Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Phe271= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ser439= Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Likely benign 86
- c.1068-55G>A Multiple submitters
- c.140-171G>A Multiple submitters
- c.296-4C>G Multiple submitters
- c.*1327A>G Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*15G>C Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Leu51= Multiple submitters
- c.1067+17G>A Single submitter
- c.1068-4G>A Single submitter
- c.1068-7T>G Single submitter
- c.1221+8G>T Single submitter
- c.1352+11G>T Single submitter
- c.1352+15G>T Single submitter
- c.1352+262del Single submitter
- c.1353-169C>T Single submitter
- c.139+11C>A Single submitter
- c.139+19A>G Single submitter
- c.139+327G>C Single submitter
- c.139+7C>T Single submitter
- c.1488+310G>A Single submitter
- c.1489-16C>T Single submitter
- c.1489-295G>C Single submitter
- c.1489-47T>C Single submitter
- c.295+281G>T Single submitter
- c.296-41C>T Single submitter
- c.485+11C>T Single submitter
- c.485+13G>A Single submitter
- c.485+7A>T Single submitter
- c.959-17dup Single submitter
- c.959-17G>A Single submitter
- c.-14C>A Single submitter
- c.-34C>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*2105C>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*458C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*555G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*91C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ala130= Single submitter
- p.Ala16= Single submitter
- p.Ala186= Single submitter
- p.Ala211= Single submitter
- p.Ala33= Single submitter
- p.Ala383= Single submitter
- p.Ala446= Single submitter
- p.Arg108= Single submitter
- p.Arg190= Single submitter
- p.Arg24= Single submitter
- p.Arg6Lys Single submitter Inborn genetic diseases ⚠
- p.Asn365Ser Single submitter Inborn genetic diseases
- p.Asp223= Single submitter
- p.Asp436= Single submitter
- p.Gln68= Single submitter
- p.Glu214= Single submitter
- p.Gly109= Single submitter
- p.Gly374= Single submitter
- p.Gly47= Single submitter
- p.Gly478= Single submitter
- p.Gly99= Single submitter
- p.His243= Single submitter
- p.His50= Single submitter
- p.Ile402= Single submitter
- p.Ile62= Single submitter
- p.Ile91= Single submitter
- p.Leu131= Single submitter
- p.Leu259= Single submitter
- p.Leu403= Single submitter
- p.Leu405= Single submitter
- p.Leu465= Single submitter
- p.Lys152= Single submitter
- p.Lys256= Single submitter
- p.Lys511= Single submitter
- p.Pro21= Single submitter
- p.Pro304= Single submitter
- p.Ser15= Single submitter
- p.Ser171= Single submitter
- p.Thr128= Single submitter
- p.Thr160= Single submitter
- p.Thr227= Single submitter
- p.Thr31= Single submitter
- p.Thr312= Single submitter
- p.Tyr261= Single submitter
- p.Tyr398= Single submitter
- p.Val380= Single submitter
- p.Val442= Single submitter
- p.Val501= Single submitter
- c.*6G>A No assertion criteria EARS2-related disorder
- p.Lys284= No assertion criteria EARS2-related disorder
- p.Val233= No assertion criteria EARS2-related disorder
Uncertain significance 185
- p.Ala263Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala299Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg11Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg156Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg162Trp Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg166Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg188His Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg361Trp Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg514Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg516Gly Multiple submitters ⚠
- p.Arg55Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg55His Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg82Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp182Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp305Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu349Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu366Asp Multiple submitters ⚠
- p.Gly135Arg Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly204Ser Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly451Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly451Val Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Ile62Phe Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Leu123Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu345Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys66Met Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Pro328Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser286Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser306Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr163Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr398Cys Multiple submitters leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Val244Met Multiple submitters Inborn genetic diseases ⚠
- p.Val83Ile Multiple submitters Inborn genetic diseases ⚠
- c.1221+5G>C Single submitter
- c.1353-11TCT[2] Single submitter
- c.139+4A>G Single submitter
- c.1488+61del Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.959-11C>A Single submitter
- c.-19G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1027G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1082T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1138G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1408A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1435C>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*155A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1647C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1720G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1808G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1809T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*180A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1902A>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*1904A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*2193A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*2309G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*637A>G Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*713T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*824G>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*914T>A Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*917C>T Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*936T>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- c.*966G>C Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Ala130Val Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala272Ser Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Ala383Asp Single submitter ⚠
- p.Ala429= Single submitter
- p.Ala433Thr Single submitter ⚠
- p.Ala507Pro Single submitter ⚠
- p.Ala88Val Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg120Leu Single submitter Inborn genetic diseases ⚠
- p.Arg146Gln Single submitter Inborn genetic diseases ⚠
- p.Arg156Gln Single submitter Inborn genetic diseases ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg188Cys Single submitter Inborn genetic diseases ⚠
- p.Arg190Cys Single submitter Inborn genetic diseases ⚠
- p.Arg190Leu Single submitter ⚠
- p.Arg24Gly Single submitter Inborn genetic diseases ⚠
- p.Arg288Ser Single submitter Inborn genetic diseases ⚠
- p.Arg288Thr Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg369Ser Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Arg412His Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg427His Single submitter Inborn genetic diseases ⚠
- p.Arg489Trp Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Arg516Trp Single submitter mitochondrial disease ⚠
- p.Arg82His Single submitter Inborn genetic diseases ⚠
- p.Asn165Ser Single submitter Inborn genetic diseases ⚠
- p.Asn335Ser Single submitter ⚠
- p.Asp236Asn Single submitter Inborn genetic diseases ⚠
- p.Asp309Glu Single submitter ⚠
- p.Asp347Asn Single submitter Inborn genetic diseases ⚠
- p.Asp443Tyr Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Asp79Val Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Cys142Ser Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Cys411Gly Single submitter ⚠
- p.Gln10His Single submitter Inborn genetic diseases ⚠
- p.Gln119His Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Gln333His Single submitter Inborn genetic diseases ⚠
- p.Gln389Arg Single submitter Inborn genetic diseases ⚠
- p.Gln496His Single submitter ⚠
- p.Gln497= Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- p.Gln518Arg Single submitter ⚠
- p.Gln518Ter Single submitter
- p.Glu12Asp Single submitter Inborn genetic diseases ⚠
- p.Glu249Gln Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Glu96Gln Single submitter Inborn genetic diseases ⚠
- p.Gly240Asp Single submitter Inborn genetic diseases ⚠
- p.Gly247Ser Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly265Ala Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly30Val Single submitter Inborn genetic diseases ⚠
- p.Gly451Arg Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Gly467Ala Single submitter ⚠
- p.Gly494Glu Single submitter ⚠
- p.Gly99Ala Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.His158Gln Single submitter ⚠
- p.His229Gln Single submitter Inborn genetic diseases ⚠
- p.His243Arg Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.His270Arg Single submitter ⚠
- p.His342Tyr Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile187Val Single submitter Inborn genetic diseases ⚠
- p.Ile311Val Single submitter ⚠
- p.Leu230Gln Single submitter Inborn genetic diseases ⚠
- p.Leu264= Single submitter
- p.Leu264Val Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Leu274Val Single submitter ⚠
- p.Leu336Gln Single submitter Inborn genetic diseases ⚠
- p.Leu372Val Single submitter Inborn genetic diseases ⚠
- p.Leu405Pro Single submitter ⚠
- p.Leu452Phe Single submitter Inborn genetic diseases ⚠
- p.Leu453Pro Single submitter Inborn genetic diseases ⚠
- p.Leu4Pro Single submitter ⚠
- p.Leu5Pro Single submitter ⚠
- p.Lys152Met Single submitter ⚠
- p.Lys181Gln Single submitter Inborn genetic diseases ⚠
- p.Lys284Arg Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Lys470Arg Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Lys470Gln Single submitter Inborn genetic diseases ⚠
- p.Lys470Thr Single submitter Inborn genetic diseases ⚠
- p.Lys519fs Single submitter
- p.Met239Thr Single submitter ⚠
- p.Met504Val Single submitter Inborn genetic diseases ⚠
- p.Met94Thr Single submitter Inborn genetic diseases ⚠
- p.Phe293Leu Single submitter Inborn genetic diseases ⚠
- p.Pro101Leu Single submitter Inborn genetic diseases ⚠
- p.Pro106Ala Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Pro114Leu Single submitter Inborn genetic diseases ⚠
- p.Pro14Ser Single submitter Inborn genetic diseases ⚠
- p.Pro185Leu Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Pro21Thr Single submitter ⚠
- p.Pro304His Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Ser15Pro Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Ser222Arg Single submitter Inborn genetic diseases ⚠
- p.Ser422Pro Single submitter Inborn genetic diseases ⚠
- p.Ser439Leu Single submitter ⚠
- p.Ser457Asp Single submitter
- p.Ser459Asn Single submitter Inborn genetic diseases ⚠
- p.Ter524Glu Single submitter
- p.Thr134Ile Single submitter Inborn genetic diseases ⚠
- p.Thr160Met Single submitter ⚠
- p.Thr227Ala Single submitter ⚠
- p.Thr254Ala Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Thr332Pro Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Thr479Ala Single submitter Inborn genetic diseases ⚠
- p.Thr81Ser Single submitter Inborn genetic diseases ⚠
- p.Trp97Arg Single submitter ⚠
- p.Tyr203Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr67Cys Single submitter Inborn genetic diseases ⚠
- p.Val202Phe Single submitter Inborn genetic diseases ⚠
- p.Val233Leu Single submitter ⚠
- p.Val292Ala Single submitter Inborn genetic diseases ⚠
- p.Val292Phe Single submitter ⚠
- p.Val339Ile Single submitter ⚠
- p.Val339Phe Single submitter leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ⚠
- p.Val399Leu Single submitter ⚠
- p.Val399Met Single submitter ⚠
- p.Val417Met Single submitter ⚠
- p.Val484Gly Single submitter Inborn genetic diseases ⚠
- p.Val84Leu Single submitter Inborn genetic diseases ⚠
- p.Val292Leu No assertion criteria EARS2-related disorder ⚠