NDUFS6 — 217 ClinVar variants
All ClinVar germline NDUFS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
6 Pathogenic · 12 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 12 Conflicting · 14 Benign · 1 Benign/Likely benign · 92 Likely benign · 61 Uncertain significance
Full NDUFS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
NDUFS6 p.Cys27Tyr
Likely pathogenic
No assertion criteria
mitochondrial complex I deficiency, nuclear type 9
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NDUFS6 p.Leu11Val
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NDUFS6 p.Met5Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NDUFS6 p.Ala18Val
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 9
-
NDUFS6 p.Ala3Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDUFS6 p.Ala4Val
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
- NDUFS6 p.Arg19Gly Uncertain significance Multiple submitters
-
NDUFS6 p.Arg31Leu
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 9
-
NDUFS6 p.Gly43Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDUFS6 p.Leu10Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDUFS6 p.Phe28Tyr
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 9
- NDUFS6 p.Ala17Gly Uncertain significance Single submitter
- NDUFS6 p.Ala2Thr Uncertain significance Single submitter
- NDUFS6 p.Arg31Gln Uncertain significance Single submitter
-
NDUFS6 p.Arg52Thr
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NDUFS6 p.Asn12Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Gly110Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Gly29Arg Uncertain significance Single submitter
-
NDUFS6 p.Gly43Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Gly91Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.His41Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Leu23Met Uncertain significance Single submitter
- NDUFS6 p.Leu23Val Uncertain significance Single submitter
-
NDUFS6 p.Leu94Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Met5Val Uncertain significance Single submitter
-
NDUFS6 p.Phe119Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Phe119Tyr
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 9
-
NDUFS6 p.Pro22Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Ser78Asn Uncertain significance Single submitter
-
NDUFS6 p.Thr40Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Val32Ile Uncertain significance Single submitter
-
NDUFS6 p.Glu16Gln
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency
-
NDUFS6 p.Phe7Ile
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency
Predictors split 18
The independent predictors disagree with each other — read with care.
-
NDUFS6 p.Ala86Val
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency
- NDUFS6 p.Thr111Ile Uncertain significance Multiple submitters
-
NDUFS6 p.Val77Met
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency
- NDUFS6 p.Ala73Glu Uncertain significance Single submitter
-
NDUFS6 p.Arg120Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Arg31Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFS6 p.Arg83Gln Uncertain significance Single submitter
- NDUFS6 p.Arg9Pro Uncertain significance Single submitter
-
NDUFS6 p.Arg9Trp
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NDUFS6 p.Asp88Asn Conflicting Single submitter
-
NDUFS6 p.Gln118Arg
Uncertain significance
Single submitter
mitochondrial complex I deficiency
- NDUFS6 p.Glu79Lys Uncertain significance Single submitter
- NDUFS6 p.Gly113Ser Uncertain significance Single submitter
-
NDUFS6 p.His122Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Thr35Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDUFS6 p.Asn64Ser
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency
-
NDUFS6 p.His123Arg
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency
-
NDUFS6 p.Thr111Ala
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency
All NDUFS6 variants
Pathogenic 6
- c.186+2T>A Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Ala18fs Single submitter
- p.Glu106fs Single submitter
- p.Gly24fs Single submitter
- p.Gly92fs Single submitter
- p.Lys108fs Single submitter
Pathogenic/Likely pathogenic 12
- c.309+1G>A Multiple submitters mitochondrial complex I deficiency
- c.309+1G>C Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.309+1G>T Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.309+2T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.309+5G>A Multiple submitters mitochondrial complex I deficiency
- p.Asn12Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- p.Cys115Arg Multiple submitters mitochondrial complex I deficiency
- p.Glu16Ter Multiple submitters mitochondrial complex I deficiency
- p.Glu37Ter Multiple submitters Inborn genetic diseases
- p.Glu81fs Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- p.Leu23fs Multiple submitters
- p.Thr107fs Multiple submitters mitochondrial complex I deficiency, nuclear type 9
Likely pathogenic 19
- c.187-1G>C Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- p.Cys115Tyr Multiple submitters mitochondrial complex I deficiency
- p.Glu62fs Multiple submitters mitochondrial complex I deficiency
- c.132+1G>C Single submitter
- c.186+1G>A Single submitter mitochondrial complex I deficiency, nuclear type 9
- c.187-2A>G Single submitter
- c.187-2A>T Single submitter mitochondrial complex I deficiency, nuclear type 9
- c.187-38_223del Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Asn102Ile Single submitter
- p.Asn66fs Single submitter mitochondrial complex I deficiency
- p.Cys112fs Single submitter
- p.Cys115Phe Single submitter mitochondrial complex I deficiency
- p.Gln75Ter Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.His96fs Single submitter
- p.Ile101fs Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Lys105fs Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Lys61fs Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Val99fs Single submitter mitochondrial complex I deficiency
- p.Cys27Tyr No assertion criteria mitochondrial complex I deficiency, nuclear type 9 ⚠
Conflicting classifications of pathogenicity 12
- c.133-4C>T Single submitter
- c.-12C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*15C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*46C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Arg83Trp Single submitter mitochondrial complex I deficiency, nuclear type 9
- p.Arg9Trp Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Asn66= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Asp88Asn Single submitter ⚠
- p.Cys8= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.His123= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Leu11Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Met5Ile Single submitter Inborn genetic diseases ⚠
Benign 14
- c.132+26A>C Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.133-206C>T Multiple submitters
- c.187-53_187-50del Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.187-84C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.309+208T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- c.310-144C>T Multiple submitters
- c.310-15T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.132+273A>G Single submitter
- c.132+309G>T Single submitter
- c.133-13del Single submitter
- c.186+12dup Single submitter
- c.187-307G>A Single submitter
- c.309+7A>G Single submitter
- p.Leu23= Single submitter mitochondrial complex I deficiency
Benign/Likely benign 1
- c.133-5dup Multiple submitters
Likely benign 92
- c.133-191C>G Multiple submitters
- c.309+158C>T Multiple submitters
- c.309+9C>A Multiple submitters
- p.Arg55= Multiple submitters mitochondrial complex I deficiency
- p.Asn102= Multiple submitters mitochondrial complex I deficiency
- p.Gln118= Multiple submitters
- p.Gly43= Multiple submitters
- p.Pro34= Multiple submitters mitochondrial complex I deficiency
- c.132+10G>A Single submitter
- c.132+10G>T Single submitter
- c.132+14G>C Single submitter
- c.132+15G>A Single submitter
- c.132+272T>C Single submitter
- c.132+8C>T Single submitter
- c.132+9C>T Single submitter
- c.133-109T>C Single submitter
- c.133-10T>A Single submitter
- c.133-185G>A Single submitter
- c.133-18C>G Single submitter
- c.133-20G>A Single submitter
- c.133-7T>C Single submitter
- c.133-82C>G Single submitter
- c.133-8T>G Single submitter
- c.186+20A>T Single submitter
- c.186+7A>G Single submitter
- c.186+8A>G Single submitter
- c.186+8A>T Single submitter
- c.187-14_187-11del Single submitter
- c.187-15T>G Single submitter
- c.187-19G>T Single submitter
- c.187-4C>T Single submitter
- c.187-6T>C Single submitter
- c.309+13C>T Single submitter
- c.309+178G>T Single submitter
- c.309+17C>T Single submitter
- c.309+8G>C Single submitter
- c.309+8G>T Single submitter
- c.310-12G>A Single submitter
- c.310-14T>C Single submitter
- c.310-17C>G Single submitter
- c.310-288C>T Single submitter
- c.310-300G>A Single submitter
- c.-46A>G Single submitter
- p.Ala17= Single submitter
- p.Ala18= Single submitter
- p.Ala2= Single submitter
- p.Ala25= Single submitter
- p.Ala3= Single submitter
- p.Ala86= Single submitter
- p.Arg13= Single submitter
- p.Arg19= Single submitter
- p.Arg26= Single submitter
- p.Arg83= Single submitter
- p.Arg9= Single submitter mitochondrial complex I deficiency
- p.Asn12= Single submitter
- p.Cys112= Single submitter mitochondrial complex I deficiency
- p.Cys14= Single submitter
- p.Cys87= Single submitter
- p.Glu79= Single submitter
- p.Glu81= Single submitter
- p.Gly110= Single submitter
- p.Gly15= Single submitter
- p.Gly24= Single submitter
- p.Gly29= Single submitter
- p.Gly36= Single submitter
- p.Gly89= Single submitter
- p.Gly95= Single submitter
- p.His122= Single submitter
- p.His41= Single submitter
- p.Ile101= Single submitter
- p.Leu10= Single submitter
- p.Leu11= Single submitter
- p.Leu117= Single submitter
- p.Leu21= Single submitter
- p.Leu94= Single submitter
- p.Lys38= Single submitter
- p.Lys49= Single submitter
- p.Phe28= Single submitter
- p.Phe7= Single submitter
- p.Pro22= Single submitter
- p.Pro76= Single submitter
- p.Thr107= Single submitter
- p.Thr109= Single submitter
- p.Thr35= Single submitter
- p.Thr40= Single submitter
- p.Thr6= Single submitter
- p.Tyr51= Single submitter
- p.Val30= Single submitter
- p.Val32= Single submitter
- p.Val39= Single submitter mitochondrial complex I deficiency
- c.-1A>G No assertion criteria NDUFS6-related disorder
- p.Ser33= No assertion criteria mitochondrial complex I deficiency
Uncertain significance 61
- p.Ala18Val Multiple submitters mitochondrial complex I deficiency, nuclear type 9 ⚠
- p.Ala3Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala4Val Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ala86Val Multiple submitters mitochondrial complex I deficiency ⚠
- p.Arg19Gly Multiple submitters ⚠
- p.Arg31Leu Multiple submitters mitochondrial complex I deficiency, nuclear type 9 ⚠
- p.Gly43Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu10Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1Arg Multiple submitters mitochondrial complex I deficiency, nuclear type 9
- p.Phe28Tyr Multiple submitters mitochondrial complex I deficiency, nuclear type 9 ⚠
- p.Thr111Ile Multiple submitters ⚠
- p.Thr6Ile Multiple submitters Inborn genetic diseases
- p.Val77Met Multiple submitters mitochondrial complex I deficiency ⚠
- c.133-2A>G Single submitter
- c.187-3C>T Single submitter Inborn genetic diseases
- c.309+4C>T Single submitter
- c.310-10A>G Single submitter
- c.*27A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*99G>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala17Gly Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala73Glu Single submitter ⚠
- p.Ala93Gly Single submitter
- p.Arg120Gly Single submitter Inborn genetic diseases ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg31Pro Single submitter Inborn genetic diseases ⚠
- p.Arg52Thr Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg9Pro Single submitter ⚠
- p.Asn12Asp Single submitter Inborn genetic diseases ⚠
- p.Gln118Arg Single submitter mitochondrial complex I deficiency ⚠
- p.Glu79Lys Single submitter ⚠
- p.Gly110Cys Single submitter Inborn genetic diseases ⚠
- p.Gly113Ser Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly43Asp Single submitter Inborn genetic diseases ⚠
- p.Gly91Arg Single submitter Inborn genetic diseases ⚠
- p.His122Tyr Single submitter Inborn genetic diseases ⚠
- p.His41Asp Single submitter Inborn genetic diseases ⚠
- p.Leu103= Single submitter
- p.Leu23Met Single submitter ⚠
- p.Leu23Val Single submitter ⚠
- p.Leu94Phe Single submitter Inborn genetic diseases ⚠
- p.Met5Val Single submitter ⚠
- p.Phe119Leu Single submitter Inborn genetic diseases ⚠
- p.Phe119Tyr Single submitter mitochondrial complex I deficiency, nuclear type 9 ⚠
- p.Pro22Thr Single submitter Inborn genetic diseases ⚠
- p.Ser78Asn Single submitter ⚠
- p.Thr35Pro Single submitter Inborn genetic diseases ⚠
- p.Thr40Met Single submitter Inborn genetic diseases ⚠
- p.Val32Ile Single submitter ⚠
- c.186+5G>C No assertion criteria mitochondrial complex I deficiency
- c.-10G>A No assertion criteria mitochondrial complex I deficiency
- c.-4C>A No assertion criteria mitochondrial complex I deficiency
- c.-9C>A No assertion criteria mitochondrial complex I deficiency
- p.Asn64Ser No assertion criteria mitochondrial complex I deficiency ⚠
- p.Glu16Gln No assertion criteria mitochondrial complex I deficiency ⚠
- p.His123Arg No assertion criteria mitochondrial complex I deficiency ⚠
- p.His96= No assertion criteria mitochondrial complex I deficiency
- p.Phe7Ile No assertion criteria mitochondrial complex I deficiency ⚠
- p.Thr111Ala No assertion criteria mitochondrial complex I deficiency ⚠