BCS1L — 569 ClinVar variants
All ClinVar germline BCS1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
32 Pathogenic · 38 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 32 Conflicting · 10 Benign · 3 Benign/Likely benign · 240 Likely benign · 148 Uncertain significance
Full BCS1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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 11
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BCS1L p.Arg109Trp
Pathogenic/Likely pathogenic
Multiple submitters
Autosomal recessive BCS1L-related disorders
-
BCS1L p.Arg114Trp
Pathogenic/Likely pathogenic
Multiple submitters
BCS1L-related disorder
-
BCS1L p.Arg155Gln
Likely pathogenic
Multiple submitters
GRACILE syndrome
-
BCS1L p.Arg184Cys
Pathogenic/Likely pathogenic
Multiple submitters
BCS1L-related disorder
-
BCS1L p.Arg306Cys
Pathogenic/Likely pathogenic
Multiple submitters
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Arg306His
Pathogenic/Likely pathogenic
Multiple submitters
BCS1L-related disorder
-
BCS1L p.Arg69Cys
Pathogenic/Likely pathogenic
Multiple submitters
BCS1L-related disorder
-
BCS1L p.Arg90Cys
Pathogenic/Likely pathogenic
Multiple submitters
intellectual disability
-
BCS1L p.Arg90His
Likely pathogenic
Multiple submitters
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Ser78Gly
Pathogenic
Multiple submitters
BCS1L-related disorder
-
BCS1L p.Ala9Thr
Pathogenic
Single submitter
mitochondrial complex III deficiency nuclear type 1
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BCS1L p.Arg109Gln
Conflicting
Single submitter
Inborn genetic diseases
- BCS1L p.Arg184His Conflicting Single submitter
-
BCS1L p.Arg45His
Conflicting
Single submitter
Bjornstad syndrome
-
BCS1L p.Asp57Gly
Conflicting
Single submitter
Bjornstad syndrome
-
BCS1L p.Gly173Asp
Conflicting
Single submitter
intellectual disability
-
BCS1L p.Leu280Phe
Conflicting
Single submitter
neuromuscular disease
-
BCS1L p.Pro99Ala
Conflicting
Single submitter
Inborn genetic diseases
- BCS1L p.Pro99Ser Conflicting Single submitter
-
BCS1L p.Ser259Thr
Conflicting
Single submitter
GRACILE syndrome
-
BCS1L p.Val205Ile
Conflicting
Single submitter
BCS1L-related disorder
-
BCS1L p.Val334Ile
Conflicting
Single submitter
Leigh syndrome
Predictors lean, ClinVar uncertain 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BCS1L p.Arg177Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Arg185Gln
Uncertain significance
Multiple submitters
GRACILE syndrome
-
BCS1L p.Arg386Gln
Uncertain significance
Multiple submitters
GRACILE syndrome
-
BCS1L p.Arg44Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Arg69His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Gln195His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BCS1L p.His70Arg Uncertain significance Multiple submitters
-
BCS1L p.Ile342Thr
Uncertain significance
Multiple submitters
Bjornstad syndrome
-
BCS1L p.Ile411Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Leu289Ile
Uncertain significance
Multiple submitters
Bjornstad syndrome
-
BCS1L p.Lys111Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Met329Val
Uncertain significance
Multiple submitters
GRACILE syndrome
- BCS1L p.Pro131Leu Uncertain significance Multiple submitters
-
BCS1L p.Pro274Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Pro344Leu
Uncertain significance
Multiple submitters
Decreased activity of mitochondrial complex III
-
BCS1L p.Ser4Leu
Uncertain significance
Multiple submitters
GRACILE syndrome
-
BCS1L p.Ser71Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Thr257Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BCS1L p.Ala154Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Ala28Val Uncertain significance Single submitter
-
BCS1L p.Ala32Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Ala373Glu Uncertain significance Single submitter
-
BCS1L p.Ala394Asp
Uncertain significance
Single submitter
BCS1L-related disorder
-
BCS1L p.Ala42Thr
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Ala61Thr
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Arg114Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Arg185Trp Uncertain significance Single submitter
- BCS1L p.Arg186Gln Uncertain significance Single submitter
- BCS1L p.Arg224Cys Uncertain significance Single submitter
- BCS1L p.Arg224His Uncertain significance Single submitter
- BCS1L p.Arg291Gln Uncertain significance Single submitter
- BCS1L p.Arg33Trp Uncertain significance Single submitter
- BCS1L p.Arg56Gln Uncertain significance Single submitter
- BCS1L p.Arg73Gly Uncertain significance Single submitter
- BCS1L p.Arg73His Uncertain significance Single submitter
- BCS1L p.Asn103Ile Uncertain significance Single submitter
-
BCS1L p.Asn149Asp
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Asn189Ser
Uncertain significance
Single submitter
Leigh syndrome
-
BCS1L p.Asn413Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Asp204Val Uncertain significance Single submitter
- BCS1L p.Asp335Asn Uncertain significance Single submitter
-
BCS1L p.Gln160Lys
Uncertain significance
Single submitter
GRACILE syndrome
- BCS1L p.Glu152Gln Uncertain significance Single submitter
- BCS1L p.Glu156Lys Uncertain significance Single submitter
- BCS1L p.Glu163Lys Uncertain significance Single submitter
-
BCS1L p.Glu323Lys
Uncertain significance
Single submitter
GRACILE syndrome
-
BCS1L p.Glu382Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Gly196Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Gly398Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.His268Asn Uncertain significance Single submitter
- BCS1L p.His383Asn Uncertain significance Single submitter
-
BCS1L p.His46Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Ile251Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Leu193Val
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
- BCS1L p.Leu266Phe Uncertain significance Single submitter
-
BCS1L p.Leu38Val
Uncertain significance
Single submitter
Leigh syndrome
-
BCS1L p.Met123Val
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Pro131Arg
Uncertain significance
Single submitter
BCS1L-related disorder
-
BCS1L p.Pro231Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Pro2Leu Uncertain significance Single submitter
-
BCS1L p.Pro344Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Ser262Pro Uncertain significance Single submitter
-
BCS1L p.Ser59Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Ser82Leu Uncertain significance Single submitter
-
BCS1L p.Thr166Ile
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Thr216Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Thr331Ala
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Thr362Asn
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Trp176Arg
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
- BCS1L p.Trp359Gly Uncertain significance Single submitter
-
BCS1L p.Trp62Cys
Uncertain significance
Single submitter
GRACILE syndrome
- BCS1L p.Tyr399Asp Uncertain significance Single submitter
- BCS1L p.Tyr403His Uncertain significance Single submitter
-
BCS1L p.Tyr60His
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Val272Met
Uncertain significance
Single submitter
Seizure
- BCS1L p.Val295Gly Uncertain significance Single submitter
-
BCS1L p.Val334Ala
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Val334Leu
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Ala154Val
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Gln275Pro
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.His383Tyr
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Ile411Val
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Leu157Pro
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Leu307Val
Uncertain significance
No assertion criteria
GRACILE syndrome
- BCS1L p.Ser238Cys Uncertain significance No assertion criteria
-
BCS1L p.Tyr181Asn
Uncertain significance
No assertion criteria
GRACILE syndrome
Predictors split 43
The independent predictors disagree with each other — read with care.
-
BCS1L p.Arg33Gln
Uncertain significance
Multiple submitters
Bjornstad syndrome
-
BCS1L p.Gly303Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BCS1L p.Lys94Glu Uncertain significance Multiple submitters
-
BCS1L p.Phe137Leu
Uncertain significance
Multiple submitters
GRACILE syndrome
-
BCS1L p.Phe309Leu
Uncertain significance
Multiple submitters
Bjornstad syndrome
-
BCS1L p.Thr322Ser
Uncertain significance
Multiple submitters
Bjornstad syndrome
-
BCS1L p.Val167Met
Uncertain significance
Multiple submitters
Bjornstad syndrome
- BCS1L p.Val327Met Uncertain significance Multiple submitters
-
BCS1L p.Arg114Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Arg144Gln
Conflicting
Single submitter
GRACILE syndrome
- BCS1L p.Arg177His Uncertain significance Single submitter
- BCS1L p.Arg325Cys Uncertain significance Single submitter
- BCS1L p.Arg325His Uncertain significance Single submitter
-
BCS1L p.Arg73Cys
Conflicting
Single submitter
GRACILE syndrome
- BCS1L p.Asp125Asn Uncertain significance Single submitter
-
BCS1L p.Asp292Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Asp5Gly
Uncertain significance
Single submitter
BCS1L-related disorder
-
BCS1L p.Gln37His
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
- BCS1L p.Gly196Cys Uncertain significance Single submitter
- BCS1L p.Gly303Asp Uncertain significance Single submitter
-
BCS1L p.Gly305Arg
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Gly35Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BCS1L p.Gly371Ala
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Gly39Cys
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Leu126Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- BCS1L p.Leu243Val Uncertain significance Single submitter
-
BCS1L p.Leu312Met
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
- BCS1L p.Lys34Arg Uncertain significance Single submitter
- BCS1L p.Met168Ile Likely benign Single submitter
-
BCS1L p.Met48Val
Conflicting
Single submitter
GRACILE syndrome
- BCS1L p.Phe20Leu Uncertain significance Single submitter
-
BCS1L p.Phe43Leu
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Thr128Met
Uncertain significance
Single submitter
GRACILE syndrome
-
BCS1L p.Thr138Met
Conflicting
Single submitter
BCS1L-related disorder
- BCS1L p.Trp107Cys Uncertain significance Single submitter
-
BCS1L p.Tyr301Cys
Likely pathogenic
Single submitter
Bjornstad syndrome
-
BCS1L p.Tyr369Cys
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Val353Met
Conflicting
Single submitter
GRACILE syndrome
-
BCS1L p.Arg109Leu
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Gly196Ser
Uncertain significance
No assertion criteria
GRACILE syndrome
-
BCS1L p.Thr50Ala
Pathogenic
No assertion criteria
mitochondrial complex III deficiency nuclear type 1
-
BCS1L p.Tyr301Asn
Pathogenic
No assertion criteria
Bjornstad syndrome
-
BCS1L p.Val115Ala
Uncertain significance
No assertion criteria
GRACILE syndrome
All BCS1L variants
Pathogenic 32
- p.Arg183His Multiple submitters Leigh syndrome
- p.Arg186Ter Multiple submitters Bjornstad syndrome
- p.Arg203fs Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg56Ter Multiple submitters Autosomal recessive BCS1L-related disorders
- p.Asp204fs Multiple submitters GRACILE syndrome
- p.Leu261_Ser262insTer Multiple submitters GRACILE syndrome
- p.Pro274fs Multiple submitters Bjornstad syndrome
- p.Pro99Leu Multiple submitters Bjornstad syndrome
- p.Ser78Gly Multiple submitters BCS1L-related disorder ⚠
- p.Ser82Ter Multiple submitters GRACILE syndrome
- c.320+1G>A Single submitter
- c.655+1G>C Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Ala9Thr Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Arg73fs Single submitter
- p.Asn267fs Single submitter BCS1L-related disorder
- p.Gln276Ter Single submitter
- p.Gln85Ter Single submitter
- p.Glu80Ter Single submitter
- p.Gly219fs Single submitter
- p.Gly35Arg Single submitter
- p.Ile209fs Single submitter
- p.Lys145fs Single submitter
- p.Met1Ile Single submitter
- p.Met1Val Single submitter
- p.Pro232fs Single submitter
- p.Pro370fs Single submitter
- p.Val146fs Single submitter
- p.Val23fs Single submitter
- p.Arg155Pro No assertion criteria mitochondrial complex III deficiency nuclear type 1
- p.Ser277Asn No assertion criteria mitochondrial complex III deficiency nuclear type 1
- p.Thr50Ala No assertion criteria mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Tyr301Asn No assertion criteria Bjornstad syndrome ⚠
Pathogenic/Likely pathogenic 38
- c.320+1G>T Multiple submitters BCS1L-related disorder
- c.889+1G>T Multiple submitters Bjornstad syndrome
- c.-50+405A>G Multiple submitters GRACILE syndrome
- p.Ala198fs Multiple submitters GRACILE syndrome
- p.Arg109Trp Multiple submitters Autosomal recessive BCS1L-related disorders ⚠
- p.Arg114Trp Multiple submitters BCS1L-related disorder ⚠
- p.Arg117Ter Multiple submitters Bjornstad syndrome
- p.Arg119Ter Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg144Ter Multiple submitters GRACILE syndrome
- p.Arg155Ter Multiple submitters GRACILE syndrome
- p.Arg183Cys Multiple submitters BCS1L-related disorder
- p.Arg184Cys Multiple submitters BCS1L-related disorder ⚠
- p.Arg200Ter Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg265Ter Multiple submitters GRACILE syndrome
- p.Arg291Ter Multiple submitters BCS1L-related disorder
- p.Arg306Cys Multiple submitters mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Arg306His Multiple submitters BCS1L-related disorder ⚠
- p.Arg343fs Multiple submitters BCS1L-related disorder
- p.Arg45Cys Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg69Cys Multiple submitters BCS1L-related disorder ⚠
- p.Arg90Cys Multiple submitters intellectual disability ⚠
- p.Asp125fs Multiple submitters Bjornstad syndrome
- p.Asp258fs Multiple submitters Bjornstad syndrome
- p.Asp317fs Multiple submitters Bjornstad syndrome
- p.Gln160Ter Multiple submitters Bjornstad syndrome
- p.Glu133fs Multiple submitters BCS1L-related disorder
- p.Gly129Arg Multiple submitters GRACILE syndrome
- p.Gly233fs Multiple submitters Bjornstad syndrome
- p.Gly235Arg Multiple submitters Bjornstad syndrome
- p.Leu140fs Multiple submitters Inborn genetic diseases
- p.Lys165Ter Multiple submitters GRACILE syndrome
- p.Lys94fs Multiple submitters Bjornstad syndrome
- p.Met1Leu Multiple submitters GRACILE syndrome
- p.Trp112Ter Multiple submitters GRACILE syndrome
- p.Trp176Ter Multiple submitters GRACILE syndrome
- p.Trp214Ter Multiple submitters GRACILE syndrome
- p.Tyr301Ter Multiple submitters Bjornstad syndrome
- p.Tyr60Ter Multiple submitters BCS1L-related disorder
Likely pathogenic 66
- c.321-2A>G Multiple submitters Bjornstad syndrome
- c.889+2T>G Multiple submitters GRACILE syndrome
- c.-50+388C>G Multiple submitters GRACILE syndrome
- p.Arg117fs Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg155Gln Multiple submitters GRACILE syndrome ⚠
- p.Arg346Ter Multiple submitters Bjornstad syndrome
- p.Arg90fs Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Arg90His Multiple submitters mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Asn332fs Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Gln194Ter Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Phe147= Multiple submitters GRACILE syndrome
- p.Ser134fs Multiple submitters GRACILE syndrome
- c.1007+2_1007+5del Single submitter Bjornstad syndrome
- c.460+1G>A Single submitter GRACILE syndrome
- c.460+2T>C Single submitter GRACILE syndrome
- c.655+2T>C Single submitter
- c.656-1G>A Single submitter
- c.719+1G>T Single submitter
- c.720-2A>G Single submitter
- p.Ala242Gly Single submitter
- p.Arg218fs Single submitter GRACILE syndrome
- p.Arg224fs Single submitter Bjornstad syndrome
- p.Arg265fs Single submitter Bjornstad syndrome
- p.Arg386Ter Single submitter Bjornstad syndrome
- p.Arg45Gly Single submitter
- p.Cys234Ter Single submitter BCS1L-related disorder
- p.Gln302Ter Single submitter GRACILE syndrome
- p.Gln397Ter Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Glu133Ter Single submitter Bjornstad syndrome
- p.Glu175fs Single submitter BCS1L-related disorder
- p.Gly102= Single submitter GRACILE syndrome
- p.Gly129Glu Single submitter
- p.Gly245fs Single submitter Bjornstad syndrome
- p.His104fs Single submitter BCS1L-related disorder
- p.Leu159Ter Single submitter BCS1L-related disorder
- p.Leu293fs Single submitter Bjornstad syndrome
- p.Lys165fs Single submitter Bjornstad syndrome
- p.Lys300fs Single submitter Bjornstad syndrome
- p.Lys34fs Single submitter GRACILE syndrome
- p.Phe368Ile Single submitter GRACILE syndrome
- p.Ser238Gly Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Ser357Ter Single submitter Bjornstad syndrome
- p.Ser78fs Single submitter GRACILE syndrome
- p.Ser78Ile Single submitter
- p.Trp359Ter Single submitter Bjornstad syndrome
- p.Trp62fs Single submitter GRACILE syndrome
- p.Trp62Ser Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Trp66Ter Single submitter GRACILE syndrome
- p.Tyr222Ter Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Tyr301Cys Single submitter Bjornstad syndrome ⚠
- p.Val135fs Single submitter BCS1L-related disorder
- p.Val167fs Single submitter GRACILE syndrome
- p.Val192Ala Single submitter
- p.Val202fs Single submitter BCS1L-related disorder
- p.Val396fs Single submitter GRACILE syndrome
- c.655+1G>A No assertion criteria GRACILE syndrome
- c.889+1G>A No assertion criteria GRACILE syndrome
- p.Ala158fs No assertion criteria GRACILE syndrome
- p.Ala18fs No assertion criteria GRACILE syndrome
- p.Arg325fs No assertion criteria GRACILE syndrome
- p.Cys252Tyr No assertion criteria
- p.Gln395Ter No assertion criteria BCS1L-related disorder
- p.Glu415fs No assertion criteria GRACILE syndrome
- p.Leu376Ter No assertion criteria GRACILE syndrome
- p.Phe179fs No assertion criteria GRACILE syndrome
- p.Val327Ala No assertion criteria GRACILE syndrome
Conflicting classifications of pathogenicity 32
- c.321-12G>A Single submitter GRACILE syndrome
- c.-14G>A Single submitter GRACILE syndrome
- c.-43G>A Single submitter Leigh syndrome
- c.-49-539T>A Single submitter GRACILE syndrome
- c.-50+326A>G Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Ala42= Single submitter Leigh syndrome
- p.Arg109Gln Single submitter Inborn genetic diseases ⚠
- p.Arg117= Single submitter
- p.Arg144Gln Single submitter GRACILE syndrome ⚠
- p.Arg184His Single submitter ⚠
- p.Arg45His Single submitter Bjornstad syndrome ⚠
- p.Arg73Cys Single submitter GRACILE syndrome ⚠
- p.Asp57= Single submitter GRACILE syndrome
- p.Asp57Gly Single submitter Bjornstad syndrome ⚠
- p.Gly173Asp Single submitter intellectual disability ⚠
- p.His86= Single submitter GRACILE syndrome
- p.Leu193= Single submitter
- p.Leu22= Single submitter
- p.Leu256= Single submitter Leigh syndrome
- p.Leu280Phe Single submitter neuromuscular disease ⚠
- p.Leu67= Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Met48Val Single submitter GRACILE syndrome ⚠
- p.Pro274= Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Pro344= Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Pro99Ala Single submitter Inborn genetic diseases ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser259Thr Single submitter GRACILE syndrome ⚠
- p.Thr138Met Single submitter BCS1L-related disorder ⚠
- p.Thr257= Single submitter Leigh syndrome
- p.Val205Ile Single submitter BCS1L-related disorder ⚠
- p.Val334Ile Single submitter Leigh syndrome ⚠
- p.Val353Met Single submitter GRACILE syndrome ⚠
Benign 10
- c.655+63C>T Multiple submitters GRACILE syndrome
- c.719+22C>T Multiple submitters
- c.-49-327C>T Multiple submitters
- c.-49-390A>G Multiple submitters
- c.-49-80A>G Multiple submitters
- c.-50+541G>A Multiple submitters GRACILE syndrome
- p.Asn332= Multiple submitters GRACILE syndrome
- p.Pro339= Multiple submitters GRACILE syndrome
- c.-50+13A>G Single submitter
- c.-50+563G>A Single submitter GRACILE syndrome
Benign/Likely benign 3
- c.1007+16G>A Multiple submitters mitochondrial complex III deficiency nuclear type 1
- c.461-9C>T Multiple submitters
- p.Asp210Asn Multiple submitters GRACILE syndrome
Likely benign 240
- c.1008-5C>A Multiple submitters
- c.320+10G>A Multiple submitters GRACILE syndrome
- c.321-13C>T Multiple submitters
- c.460+11del Multiple submitters Bjornstad syndrome
- c.461-12_461-10del Multiple submitters
- c.461-9_461-7del Multiple submitters
- c.656-5C>T Multiple submitters
- c.890-6C>T Multiple submitters
- c.-49-530C>T Multiple submitters
- p.Ala61= Multiple submitters
- p.Asn314= Multiple submitters
- p.Asp204= Multiple submitters GRACILE syndrome
- p.Asp348= Multiple submitters
- p.Cys234= Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.Gln395= Multiple submitters
- p.Gln397= Multiple submitters
- p.Glu116= Multiple submitters mitochondrial complex III deficiency nuclear type 1
- p.His333= Multiple submitters
- p.His358= Multiple submitters
- p.Ile209= Multiple submitters GRACILE syndrome
- p.Leu270= Multiple submitters
- p.Leu312= Multiple submitters
- p.Lys145= Multiple submitters
- p.Pro101= Multiple submitters GRACILE syndrome
- c.1007+10A>G Single submitter
- c.1007+12C>T Single submitter
- c.1007+14A>G Single submitter
- c.1007+17C>T Single submitter
- c.1007+5G>A Single submitter
- c.1007+8G>A Single submitter
- c.1007+9G>A Single submitter
- c.1008-13del Single submitter
- c.1008-13T>G Single submitter
- c.1008-15C>G Single submitter
- c.1008-5C>T Single submitter
- c.320+8G>A Single submitter
- c.321-10del Single submitter
- c.321-12G>T Single submitter
- c.321-15A>G Single submitter
- c.321-16G>C Single submitter
- c.321-17T>C Single submitter
- c.321-4T>G Single submitter
- c.321-7T>C Single submitter
- c.460+16G>A Single submitter
- c.460+17G>T Single submitter
- c.460+31G>A Single submitter
- c.460+33C>T Single submitter
- c.460+34A>G Single submitter
- c.460+38C>G Single submitter
- c.460+52T>C Single submitter
- c.460+7G>A Single submitter
- c.460+9T>C Single submitter
- c.461-10T>C Single submitter
- c.461-15T>C Single submitter
- c.461-16_461-14del Single submitter
- c.461-16A>T Single submitter
- c.461-17C>T Single submitter
- c.461-3del Single submitter
- c.461-5C>G Single submitter
- c.461-5C>T Single submitter
- c.461-8del Single submitter
- c.655+15G>T Single submitter
- c.655+17G>A Single submitter
- c.655+17G>C Single submitter
- c.655+9C>G Single submitter
- c.655+9C>T Single submitter
- c.656-11T>C Single submitter
- c.656-17C>T Single submitter
- c.656-4C>T Single submitter
- c.656-7T>C Single submitter
- c.719+16T>G Single submitter
- c.719+17TC[2] Single submitter
- c.719+18C>G Single submitter
- c.719+7A>G Single submitter
- c.720-4A>G Single submitter GRACILE syndrome
- c.720-7T>C Single submitter
- c.720-86_720-85del Single submitter
- c.720-8C>T Single submitter
- c.889+11G>A Single submitter
- c.889+12del Single submitter
- c.889+12G>A Single submitter
- c.889+17G>A Single submitter
- c.889+9G>A Single submitter
- c.889+9G>C Single submitter
- c.890-10C>T Single submitter
- c.890-16C>T Single submitter
- c.890-19T>C Single submitter
- c.890-4C>T Single submitter
- c.890-5T>A Single submitter
- c.890-7C>G Single submitter
- c.890-8T>C Single submitter
- c.-49-435del Single submitter
- c.-49-595A>G Single submitter GRACILE syndrome
- c.-50+282C>T Single submitter
- c.-50+555C>A Single submitter
- c.-50+7G>C Single submitter
- p.Ala18= Single submitter
- p.Ala198= Single submitter
- p.Ala242= Single submitter
- p.Ala273= Single submitter
- p.Ala315= Single submitter
- p.Ala32= Single submitter
- p.Ala381= Single submitter
- p.Ala394= Single submitter
- p.Ala414= Single submitter
- p.Arg114= Single submitter
- p.Arg144= Single submitter
- p.Arg155= Single submitter
- p.Arg183= Single submitter
- p.Arg185= Single submitter
- p.Arg306= Single submitter
- p.Arg346= Single submitter
- p.Arg386= Single submitter
- p.Arg419= Single submitter
- p.Arg44= Single submitter
- p.Arg58= Single submitter
- p.Asn103= Single submitter
- p.Asn189= Single submitter
- p.Asn211= Single submitter
- p.Asn389= Single submitter
- p.Asp199= Single submitter
- p.Asp210= Single submitter
- p.Asp217= Single submitter
- p.Asp258= Single submitter
- p.Asp263= Single submitter
- p.Asp285= Single submitter
- p.Asp292= Single submitter
- p.Asp406= Single submitter
- p.Gln122= Single submitter
- p.Gln160= Single submitter
- p.Gln275= Single submitter
- p.Gln276= Single submitter
- p.Gln37= Single submitter
- p.Glu120= Single submitter
- p.Glu152= Single submitter
- p.Glu246= Single submitter
- p.Glu282= Single submitter
- p.Gly129= Single submitter
- p.Gly230= Single submitter
- p.Gly233= Single submitter
- p.Gly235= Single submitter
- p.Gly26= Single submitter
- p.Gly305= Single submitter
- p.Gly35= Single submitter
- p.Gly371= Single submitter
- p.His249= Single submitter
- p.His268= Single submitter
- p.His358Gln Single submitter
- p.His383= Single submitter GRACILE syndrome
- p.His412= Single submitter
- p.His70= Single submitter
- p.Ile106= Single submitter
- p.Ile150= Single submitter
- p.Ile251= Single submitter
- p.Ile326= Single submitter
- p.Ile49= Single submitter
- p.Ile7= Single submitter
- p.Ile7Val Single submitter Inborn genetic diseases
- p.Leu10= Single submitter
- p.Leu126= Single submitter
- p.Leu140= Single submitter
- p.Leu157= Single submitter
- p.Leu159= Single submitter
- p.Leu197= Single submitter
- p.Leu227= Single submitter
- p.Leu247= Single submitter
- p.Leu253= Single submitter
- p.Leu261= Single submitter
- p.Leu266= Single submitter
- p.Leu269= Single submitter
- p.Leu280= Single submitter
- p.Leu281= Single submitter
- p.Leu304= Single submitter
- p.Leu307= Single submitter
- p.Leu313= Single submitter
- p.Leu349= Single submitter
- p.Leu376= Single submitter
- p.Leu38= Single submitter
- p.Leu40= Single submitter
- p.Leu51= Single submitter
- p.Leu63= Single submitter
- p.Leu8= Single submitter
- p.Lys111= Single submitter
- p.Lys236= Single submitter
- p.Lys34= Single submitter
- p.Lys350= Single submitter
- p.Met168Ile Single submitter ⚠
- p.Phe137= Single submitter
- p.Phe328= Single submitter
- p.Phe380= Single submitter
- p.Phe95= Single submitter
- p.Phe97= Single submitter
- p.Pro131= Single submitter
- p.Pro178= Single submitter
- p.Pro187= Single submitter
- p.Pro212= Single submitter
- p.Pro231= Single submitter
- p.Pro298= Single submitter
- p.Pro374= Single submitter
- p.Pro54= Single submitter
- p.Ser259= Single submitter
- p.Ser271= Single submitter
- p.Ser310= Single submitter
- p.Ser375= Single submitter
- p.Ser392= Single submitter
- p.Ser78= Single submitter
- p.Ser82= Single submitter
- p.Thr128= Single submitter
- p.Thr138= Single submitter
- p.Thr142= Single submitter
- p.Thr166= Single submitter
- p.Thr216= Single submitter
- p.Thr322= Single submitter
- p.Thr330= Single submitter
- p.Thr331= Single submitter
- p.Thr362Ser Single submitter Inborn genetic diseases
- p.Thr50= Single submitter
- p.Thr68= Single submitter
- p.Thr72= Single submitter
- p.Thr81= Single submitter
- p.Thr93= Single submitter GRACILE syndrome
- p.Tyr215= Single submitter
- p.Tyr222= Single submitter
- p.Tyr226= Single submitter
- p.Tyr352= Single submitter
- p.Tyr399= Single submitter
- p.Tyr60= Single submitter
- p.Val115= Single submitter
- p.Val172= Single submitter
- p.Val205= Single submitter
- p.Val25= Single submitter
- p.Val272= Single submitter
- p.Val279= Single submitter
- p.Val295= Single submitter
- p.Val347= Single submitter
- p.Val36= Single submitter
- p.Val396= Single submitter
- p.Val408= Single submitter
- p.Val53= Single submitter
- p.Val79= Single submitter
Uncertain significance 148
- p.Arg177Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg185Gln Multiple submitters GRACILE syndrome ⚠
- p.Arg33Gln Multiple submitters Bjornstad syndrome ⚠
- p.Arg386Gln Multiple submitters GRACILE syndrome ⚠
- p.Arg44Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg69His Multiple submitters Inborn genetic diseases ⚠
- p.Gln195His Multiple submitters Inborn genetic diseases ⚠
- p.Gly303Arg Multiple submitters Inborn genetic diseases ⚠
- p.His70Arg Multiple submitters ⚠
- p.Ile342Thr Multiple submitters Bjornstad syndrome ⚠
- p.Ile411Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu289Ile Multiple submitters Bjornstad syndrome ⚠
- p.Lys111Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys94Glu Multiple submitters ⚠
- p.Met329Val Multiple submitters GRACILE syndrome ⚠
- p.Phe137Leu Multiple submitters GRACILE syndrome ⚠
- p.Phe309Leu Multiple submitters Bjornstad syndrome ⚠
- p.Pro131Leu Multiple submitters ⚠
- p.Pro274Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro344Leu Multiple submitters Decreased activity of mitochondrial complex III ⚠
- p.Ser4Leu Multiple submitters GRACILE syndrome ⚠
- p.Ser65Arg Multiple submitters Bjornstad syndrome
- p.Ser71Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr257Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr322Ser Multiple submitters Bjornstad syndrome ⚠
- p.Val167Met Multiple submitters Bjornstad syndrome ⚠
- p.Val327Met Multiple submitters ⚠
- c.460+37_460+53del Single submitter Decreased activity of mitochondrial complex III
- c.460+5G>A Single submitter mitochondrial complex III deficiency nuclear type 1
- c.460+63A>G Single submitter mitochondrial complex III deficiency nuclear type 1
- c.655+3G>A Single submitter
- c.655+6A>C Single submitter
- c.-331G>T Single submitter neuromuscular disease
- c.-49-12C>G Single submitter
- c.-50+380G>C Single submitter GRACILE syndrome
- c.-50+425T>C Single submitter Leigh syndrome
- c.-50+458T>G Single submitter GRACILE syndrome
- p.Ala154Asp Single submitter Inborn genetic diseases ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala32Val Single submitter Inborn genetic diseases ⚠
- p.Ala373Glu Single submitter ⚠
- p.Ala394Asp Single submitter BCS1L-related disorder ⚠
- p.Ala42Thr Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Ala61Thr Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Arg114Gln Single submitter Inborn genetic diseases ⚠
- p.Arg114Leu Single submitter Inborn genetic diseases ⚠
- p.Arg177His Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg265Gln Single submitter
- p.Arg291Gln Single submitter ⚠
- p.Arg325Cys Single submitter ⚠
- p.Arg325His Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg56Gln Single submitter ⚠
- p.Arg73Gly Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn103Ile Single submitter ⚠
- p.Asn149Asp Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Asn189Ser Single submitter Leigh syndrome ⚠
- p.Asn413Lys Single submitter Inborn genetic diseases ⚠
- p.Asp125Asn Single submitter ⚠
- p.Asp204Val Single submitter ⚠
- p.Asp264Asn Single submitter Inborn genetic diseases
- p.Asp292Asn Single submitter Inborn genetic diseases ⚠
- p.Asp335Asn Single submitter ⚠
- p.Asp5Gly Single submitter BCS1L-related disorder ⚠
- p.Gln160Lys Single submitter GRACILE syndrome ⚠
- p.Gln37His Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Gln75= Single submitter
- p.Gln85del Single submitter GRACILE syndrome
- p.Glu152Gln Single submitter ⚠
- p.Glu156Lys Single submitter ⚠
- p.Glu163Lys Single submitter ⚠
- p.Glu323Lys Single submitter GRACILE syndrome ⚠
- p.Glu382Gly Single submitter Inborn genetic diseases ⚠
- p.Glu87Lys Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Gly196Cys Single submitter ⚠
- p.Gly196Val Single submitter Inborn genetic diseases ⚠
- p.Gly303Asp Single submitter ⚠
- p.Gly305Arg Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Gly35Val Single submitter Inborn genetic diseases ⚠
- p.Gly371Ala Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Gly398Ser Single submitter Inborn genetic diseases ⚠
- p.Gly39Cys Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.His268Asn Single submitter ⚠
- p.His383Asn Single submitter ⚠
- p.His46Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile251Thr Single submitter Inborn genetic diseases ⚠
- p.Leu126Phe Single submitter Inborn genetic diseases ⚠
- p.Leu193Val Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Leu243Val Single submitter ⚠
- p.Leu266Phe Single submitter ⚠
- p.Leu312Met Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Leu38Val Single submitter Leigh syndrome ⚠
- p.Lys34Arg Single submitter ⚠
- p.Met123Val Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Phe20Leu Single submitter ⚠
- p.Phe43Leu Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Pro131Arg Single submitter BCS1L-related disorder ⚠
- p.Pro231Thr Single submitter Inborn genetic diseases ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro344Thr Single submitter Inborn genetic diseases ⚠
- p.Pro407fs Single submitter GRACILE syndrome
- p.Ser262Pro Single submitter ⚠
- p.Ser59Asn Single submitter Inborn genetic diseases ⚠
- p.Ser82Leu Single submitter ⚠
- p.Thr128Met Single submitter GRACILE syndrome ⚠
- p.Thr166Ile Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Thr216Ala Single submitter Inborn genetic diseases ⚠
- p.Thr331Ala Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Thr362Asn Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Trp107Cys Single submitter ⚠
- p.Trp176Arg Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Trp359Gly Single submitter ⚠
- p.Trp62Cys Single submitter GRACILE syndrome ⚠
- p.Tyr369Cys Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Tyr399Asp Single submitter ⚠
- p.Tyr403His Single submitter ⚠
- p.Tyr60His Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Val191= Single submitter mitochondrial complex III deficiency nuclear type 1
- p.Val272Met Single submitter Seizure ⚠
- p.Val295Gly Single submitter ⚠
- p.Val334Ala Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Val334Leu Single submitter mitochondrial complex III deficiency nuclear type 1 ⚠
- p.Val98del Single submitter GRACILE syndrome
- c.889+2dup No assertion criteria GRACILE syndrome
- c.-50+1G>T No assertion criteria GRACILE syndrome
- c.-50+2T>G No assertion criteria GRACILE syndrome
- p.Ala154Val No assertion criteria GRACILE syndrome ⚠
- p.Arg109Leu No assertion criteria GRACILE syndrome ⚠
- p.Arg119= No assertion criteria GRACILE syndrome
- p.Arg203_Val205del No assertion criteria GRACILE syndrome
- p.Gln275Pro No assertion criteria GRACILE syndrome ⚠
- p.Gly196Ser No assertion criteria GRACILE syndrome ⚠
- p.His383Tyr No assertion criteria GRACILE syndrome ⚠
- p.Ile411Val No assertion criteria GRACILE syndrome ⚠
- p.Leu157Pro No assertion criteria GRACILE syndrome ⚠
- p.Leu243= No assertion criteria GRACILE syndrome
- p.Leu307Val No assertion criteria GRACILE syndrome ⚠
- p.Lys350del No assertion criteria GRACILE syndrome
- p.Ser238Cys No assertion criteria ⚠
- p.Thr362= No assertion criteria GRACILE syndrome
- p.Tyr181Asn No assertion criteria GRACILE syndrome ⚠
- p.Tyr399dup No assertion criteria GRACILE syndrome
- p.Val115Ala No assertion criteria GRACILE syndrome ⚠