Sugi Variant

Sugi Variant/TMEM70

TMEM70 — 359 ClinVar variants

All ClinVar germline TMEM70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

15 Pathogenic · 10 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 17 Conflicting · 26 Benign · 3 Benign/Likely benign · 108 Likely benign · 168 Uncertain significance

Full TMEM70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 8

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

Predictors lean, ClinVar uncertain 111

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

Predictors split 15

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

All TMEM70 variants

Pathogenic 15

  • p.Arg80Ter Multiple submitters Inborn genetic diseases
  • c.316+1G>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala60fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg169Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Cys17fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Gly165fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Gly44fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Met148fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro123fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro48fs Single submitter
  • p.Pro66fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr127fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Trp75Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr145fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr112Ter No assertion criteria mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Pathogenic/Likely pathogenic 10

  • c.317-2A>G Multiple submitters TMEM70-related disorder
  • p.Ala11fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala34fs Multiple submitters TMEM70-related disorder
  • p.Gly149fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser40fs Multiple submitters TMEM70-related disorder
  • p.Thr120fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr193fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr166fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val167fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val36fs Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Likely pathogenic 12

  • c.210+1G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-1G>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-2A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-6_220del Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg19fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Gln128Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.His207fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.His234Pro Single submitter
  • p.Met1Thr Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Phe195fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr193Ile Single submitter
  • p.Val157fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Conflicting classifications of pathogenicity 17

  • c.211-6C>T Single submitter autosomal recessive disease
  • p.Ala39Gly Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg102Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg255Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg33= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Asn185Lys Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Glu241fs Single submitter TMEM70-related disorder
  • p.His160= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ile154= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu23Phe Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Leu4Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro9Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser42Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser8Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr152Met Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr178= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr145Cys Single submitter Inborn genetic diseases ⚠

Benign 26

  • c.211-30A>G Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.316+104A>G Multiple submitters
  • c.316+68A>G Multiple submitters
  • c.-23C>T Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-468T>C Multiple submitters
  • c.*169A>G Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*24C>T Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*502C>A Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*611T>G Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*771G>A Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*785G>A Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*892A>G Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*904A>G Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala34Pro Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Asp259Glu Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu116Val Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr127Ala Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr250Ala Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.210+131C>G Single submitter
  • c.210+167G>C Single submitter
  • c.211-193A>G Single submitter
  • c.211-53dup Single submitter
  • c.317-10dup Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*1052G>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*494T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*714G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Benign/Likely benign 3

  • c.-53G>A Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Asn228Lys Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val194Met Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Likely benign 108

  • c.211-11T>C Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-16T>C Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Glu230= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Glu253= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Gly51= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.His196= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu14= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser218= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr120= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr191= Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.210+8G>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-12C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-13C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-14C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-18T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-19A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.211-275A>G Single submitter
  • c.316+14G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.316+15G>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.316+19G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.316+19G>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.316+9T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-10T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-12T>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-17_317-14del Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-23CT[2] Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-23CT[3] Single submitter
  • c.317-6A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-7C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-8C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.317-9C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-71_-47dup Single submitter
  • c.*1103C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*1153G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*19G>T Single submitter
  • c.*217A>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*571C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala103= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala11= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala131= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala174= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala181= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala186= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala22= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala25= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala26= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala27= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala28= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala34= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala39= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala50= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala59= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala60= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg169= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg20= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg229= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg255= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg38= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg61= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg64= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Glu248= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ile142= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ile143= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ile202= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ile71= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu122= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu16= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu2= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu225= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu23= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu29= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu6= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu63= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu82= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu94= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Lys206= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Met187Val Single submitter Inborn genetic diseases
  • p.Phe144= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Phe161= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Phe243= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro123= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro45= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro85= Single submitter
  • p.Pro9= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser113= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser135= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser37= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser41Phe Single submitter Inborn genetic diseases
  • p.Ser43= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser46= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser86= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr114= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr152= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr155= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr183= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr193= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr84= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr112= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr124= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr179= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr246= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr74= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr96= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val12= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val153= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val167= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val194= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val36= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Uncertain significance 168

  • p.Ala174Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala205Ser Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg255Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg80Gln Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp239His Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Cys24Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln141Arg Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gln197Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu241Lys Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.His172Arg Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.His196Gln Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile143Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile147Thr Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile154Phe Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile244Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu29Phe Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Leu4Arg Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Lys257Ter Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Lys257Thr Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Phe105Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Pro137Leu Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro72Ser Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ser37Cys Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ser43Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser53Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Thr178Ser Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr84Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr166Cys Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Tyr78Cys Multiple submitters mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • c.211-4A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-13C>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-15C>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-39G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.-39G>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*1055A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*178A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*18C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*196G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*21G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*239A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*29G>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*300A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*413T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*425T>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*456T>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*531C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*5A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*657C>A Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*670T>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*693C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*706C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*731C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*755C>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*942G>C Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*942G>T Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • c.*963A>G Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ala103Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ala131Gly Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ala186Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ala205Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ala214Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala26Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ala28Gly Single submitter autosomal recessive disease ⚠
  • p.Ala50Thr Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg102Gln Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg169Gln Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg19Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg20del Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Arg229His Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg229Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg61Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg64Trp Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg65Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Arg80Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asn185Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asn99Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn99Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp231Glu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp258Gly Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp87Gly Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp91Asn Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Asp91Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Cys109Phe Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gln197Leu Single submitter ⚠
  • p.Glu76Gly Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Glu90Gln Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly106Val Single submitter Inborn genetic diseases
  • p.Gly118= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Gly149Arg Single submitter ⚠
  • p.Gly165Asp Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly237Cys Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly31Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly47Glu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly51Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly67Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly92Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Gly98Asp Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.His160Pro Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.His256Tyr Single submitter ⚠
  • p.Ile125Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile132Val Single submitter Inborn genetic diseases ⚠
  • p.Ile140Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile142Met Single submitter ⚠
  • p.Ile143Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile168Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile233Phe Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ile71Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Leu119Val Single submitter Inborn genetic diseases ⚠
  • p.Leu138Val Single submitter Inborn genetic diseases ⚠
  • p.Leu14Val Single submitter Inborn genetic diseases ⚠
  • p.Leu188Pro Single submitter ⚠
  • p.Leu219Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Leu23Trp Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Leu23Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Leu245fs Single submitter
  • p.Leu63Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Lys206Asn Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Lys217Glu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Lys240Gln Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Lys240Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Lys260= Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Lys260Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Met100Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Met1Ile Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Met247Ile Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Met247Thr Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Met247Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Phe105Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Phe144Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Phe226Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Phe81Val Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro123Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Pro137Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro139Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro15Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro15Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro32Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro48Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro72Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro72Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Pro9Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ser111Pro Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ser133Ala Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Ser40_Ser41insValSerArgAlaSer Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ser8Pro Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Ter261Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Thr114Met Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr127Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr175Ala Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr178Ala Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr183Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr191Arg Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr191Met Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr216Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr21Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Thr97Pro Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Trp52Ser Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Tyr232Cys Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Tyr238Ter Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Tyr74Cys Single submitter ⚠
  • p.Tyr78His Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val136Ala Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val167Ala Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val167Ile Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val194Leu Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val221fs Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  • p.Val36Ile Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ⚠
  • p.Val49_Pro56del Single submitter mitochondrial complex V (ATP synthase) deficiency, nuclear type 2