PET100 — 99 ClinVar variants
All ClinVar germline PET100 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 5 Conflicting · 10 Benign · 1 Benign/Likely benign · 45 Likely benign · 28 Uncertain significance
Full PET100 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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PET100 p.Arg60Gln
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PET100 p.Ala69Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PET100 p.Arg58Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PET100 p.Ala69Thr
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 12
-
PET100 p.Arg37His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PET100 p.Arg39Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PET100 p.Asp68Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PET100 p.Glu28Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PET100 p.Glu28Gln Uncertain significance Single submitter
-
PET100 p.Glu52Gln
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 12
-
PET100 p.Leu47Arg
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 12
- PET100 p.Leu47Phe Uncertain significance Single submitter
- PET100 p.Leu65Phe Uncertain significance Single submitter
-
PET100 p.Lys54Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PET100 p.Pro17Ser
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 12
Predictors split 9
The independent predictors disagree with each other — read with care.
-
PET100 p.Arg60Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PET100 p.Arg67Cys Benign Multiple submitters
-
PET100 p.Glu62Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PET100 p.Arg58Trp Uncertain significance Single submitter
- PET100 p.Arg60Pro Uncertain significance Single submitter
- PET100 p.Arg61Trp Uncertain significance Single submitter
-
PET100 p.Arg67His
Conflicting
Single submitter
Inborn genetic diseases
-
PET100 p.Met10Val
Uncertain significance
Single submitter
mitochondrial complex IV deficiency, nuclear type 12
-
PET100 p.Pro44Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All PET100 variants
Pathogenic 4
- p.Met1Ile Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- p.Met1Leu Single submitter
- p.Trp22Ter Single submitter
- p.Tyr13Ter Single submitter
Pathogenic/Likely pathogenic 2
- p.Gln48Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- p.Met1Val Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
Likely pathogenic 4
- c.114+1G>A Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- c.28-2A>G Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- p.Met1Ile Single submitter mitochondrial complex IV deficiency, nuclear type 12
- c.115-1G>A Single submitter
Conflicting classifications of pathogenicity 5
- c.114+7A>G Single submitter mitochondrial complex IV deficiency, nuclear type 12
- c.115-3C>G Single submitter mitochondrial complex IV deficiency, nuclear type 12
- p.Arg60Gln Single submitter Inborn genetic diseases ⚠
- p.Arg67His Single submitter Inborn genetic diseases ⚠
- p.Leu66Pro Single submitter
Benign 10
- c.114+75T>C Multiple submitters
- c.138+109A>G Multiple submitters
- c.138+245C>G Multiple submitters
- c.139-221G>A Multiple submitters
- c.28-123A>G Multiple submitters
- c.-135G>T Multiple submitters
- c.-327G>A Multiple submitters
- c.-58T>C Multiple submitters
- p.Arg67Cys Multiple submitters ⚠
- c.28-193G>C Single submitter
Benign/Likely benign 1
- p.Glu28Lys Multiple submitters
Likely benign 45
- c.115-28G>A Multiple submitters
- c.115-73T>A Multiple submitters
- c.115-9T>C Multiple submitters
- c.138+26A>G Multiple submitters
- c.139-11_139-9del Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- c.139-15C>T Multiple submitters
- c.*236C>T Multiple submitters
- c.*54G>T Multiple submitters
- p.Asn25Ser Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- c.114+14G>A Single submitter
- c.114+16G>C Single submitter
- c.114+18G>A Single submitter
- c.138+11T>C Single submitter
- c.138+13T>G Single submitter
- c.138+15C>T Single submitter
- c.138+16_138+18del Single submitter
- c.139-10C>T Single submitter
- c.139-161G>A Single submitter
- c.139-16G>A Single submitter
- c.139-16G>T Single submitter
- c.139-17C>T Single submitter
- c.139-18C>T Single submitter
- c.139-4C>G Single submitter
- c.139-64_139-63del Single submitter
- c.139-7C>T Single submitter
- c.139-99G>A Single submitter
- c.139-9C>T Single submitter
- c.27+11A>G Single submitter
- c.28-14C>G Single submitter
- c.28-18C>T Single submitter
- c.28-4C>A Single submitter
- c.-19G>C Single submitter
- c.-3G>A Single submitter
- p.Ala69= Single submitter
- p.Arg58= Single submitter
- p.Arg67= Single submitter
- p.Asn72= Single submitter
- p.Asp68= Single submitter
- p.Gln48Arg Single submitter Inborn genetic diseases
- p.Glu51= Single submitter
- p.Glu62= Single submitter
- p.Leu47= Single submitter
- p.Leu66= Single submitter
- p.Ser73Cys Single submitter
- p.Ter74= Single submitter
Uncertain significance 28
- c.138+3A>T Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- p.Ala69Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg58Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg60Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu62Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu63del Multiple submitters mitochondrial complex IV deficiency, nuclear type 12
- c.114+4G>A Single submitter
- c.138+1G>T Single submitter
- c.139-1G>A Single submitter
- p.Ala69Thr Single submitter mitochondrial complex IV deficiency, nuclear type 12 ⚠
- p.Arg37His Single submitter Inborn genetic diseases ⚠
- p.Arg39Lys Single submitter Inborn genetic diseases ⚠
- p.Arg58Trp Single submitter ⚠
- p.Arg60Pro Single submitter ⚠
- p.Arg61Trp Single submitter ⚠
- p.Asp68Asn Single submitter Inborn genetic diseases ⚠
- p.Glu28Asp Single submitter Inborn genetic diseases ⚠
- p.Glu28Gln Single submitter ⚠
- p.Glu40Leu Single submitter
- p.Glu52Gln Single submitter mitochondrial complex IV deficiency, nuclear type 12 ⚠
- p.Glu62Ter Single submitter
- p.Leu47Arg Single submitter mitochondrial complex IV deficiency, nuclear type 12 ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu65Phe Single submitter ⚠
- p.Lys54Gln Single submitter Inborn genetic diseases ⚠
- p.Met10Val Single submitter mitochondrial complex IV deficiency, nuclear type 12 ⚠
- p.Pro17Ser Single submitter mitochondrial complex IV deficiency, nuclear type 12 ⚠
- p.Pro44Leu Single submitter Inborn genetic diseases ⚠