FASTKD5 — 112 ClinVar variants
All ClinVar germline FASTKD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
5 Pathogenic · 9 Likely benign · 98 Uncertain significance
Full FASTKD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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FASTKD5 p.Arg404Cys
Pathogenic
No assertion criteria
Leigh syndrome
-
FASTKD5 p.Leu634Pro
Pathogenic
No assertion criteria
mitochondrial complex IV deficiency, nuclear type 24
Predictors lean, ClinVar uncertain 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FASTKD5 p.Ala381Val Uncertain significance Single submitter
- FASTKD5 p.Ala493Ser Uncertain significance Single submitter
- FASTKD5 p.Ala549Thr Uncertain significance Single submitter
- FASTKD5 p.Ala638Gly Uncertain significance Single submitter
- FASTKD5 p.Ala678Thr Uncertain significance Single submitter
- FASTKD5 p.Ala687Thr Uncertain significance Single submitter
- FASTKD5 p.Arg126Cys Uncertain significance Single submitter
- FASTKD5 p.Arg126His Uncertain significance Single submitter
- FASTKD5 p.Arg26Pro Uncertain significance Single submitter
- FASTKD5 p.Arg338Gln Uncertain significance Single submitter
- FASTKD5 p.Arg338Trp Uncertain significance Single submitter
- FASTKD5 p.Arg384Gln Uncertain significance Single submitter
- FASTKD5 p.Arg529Gly Uncertain significance Single submitter
- FASTKD5 p.Arg586Gln Uncertain significance Single submitter
- FASTKD5 p.Arg748Cys Uncertain significance Single submitter
- FASTKD5 p.Arg748Leu Uncertain significance Single submitter
- FASTKD5 p.Arg97Gly Uncertain significance Single submitter
- FASTKD5 p.Asn314Ser Uncertain significance Single submitter
- FASTKD5 p.Asn531Ser Uncertain significance Single submitter
- FASTKD5 p.Asn612Lys Uncertain significance Single submitter
- FASTKD5 p.Asp275Glu Uncertain significance Single submitter
- FASTKD5 p.Cys60Arg Uncertain significance Single submitter
- FASTKD5 p.Cys685Phe Uncertain significance Single submitter
- FASTKD5 p.Gln159His Uncertain significance Single submitter
- FASTKD5 p.Gln41His Uncertain significance Single submitter
- FASTKD5 p.Gln503Glu Uncertain significance Single submitter
- FASTKD5 p.Gln503His Uncertain significance Single submitter
- FASTKD5 p.Glu103Lys Uncertain significance Single submitter
- FASTKD5 p.Glu303Val Uncertain significance Single submitter
- FASTKD5 p.Glu483Gln Uncertain significance Single submitter
- FASTKD5 p.Glu561Gln Uncertain significance Single submitter
- FASTKD5 p.Glu658Asp Uncertain significance Single submitter
- FASTKD5 p.Gly40Glu Uncertain significance Single submitter
- FASTKD5 p.Gly530Arg Uncertain significance Single submitter
- FASTKD5 p.Gly571Glu Uncertain significance Single submitter
- FASTKD5 p.Gly644Cys Uncertain significance Single submitter
- FASTKD5 p.His178Leu Uncertain significance Single submitter
- FASTKD5 p.His38Asn Uncertain significance Single submitter
- FASTKD5 p.His46Asn Uncertain significance Single submitter
- FASTKD5 p.His536Tyr Uncertain significance Single submitter
- FASTKD5 p.His579Arg Uncertain significance Single submitter
- FASTKD5 p.His620Arg Uncertain significance Single submitter
- FASTKD5 p.Ile163Thr Uncertain significance Single submitter
- FASTKD5 p.Ile310Thr Uncertain significance Single submitter
- FASTKD5 p.Ile321Thr Uncertain significance Single submitter
- FASTKD5 p.Ile380Leu Uncertain significance Single submitter
- FASTKD5 p.Ile523Asn Uncertain significance Single submitter
- FASTKD5 p.Leu284Ile Uncertain significance Single submitter
- FASTKD5 p.Lys54Glu Uncertain significance Single submitter
- FASTKD5 p.Lys556Gln Uncertain significance Single submitter
- FASTKD5 p.Lys645Arg Uncertain significance Single submitter
- FASTKD5 p.Met224Val Uncertain significance Single submitter
- FASTKD5 p.Met553Thr Uncertain significance Single submitter
- FASTKD5 p.Met690Ile Uncertain significance Single submitter
- FASTKD5 p.Phe63Leu Uncertain significance Single submitter
- FASTKD5 p.Pro19Ala Uncertain significance Single submitter
- FASTKD5 p.Pro420Arg Uncertain significance Single submitter
- FASTKD5 p.Pro420Ser Uncertain significance Single submitter
- FASTKD5 p.Pro445Ser Uncertain significance Single submitter
- FASTKD5 p.Pro96Ser Uncertain significance Single submitter
- FASTKD5 p.Ser186Thr Uncertain significance Single submitter
- FASTKD5 p.Ser267Gly Uncertain significance Single submitter
- FASTKD5 p.Ser277Cys Uncertain significance Single submitter
- FASTKD5 p.Ser401Leu Uncertain significance Single submitter
- FASTKD5 p.Ser48Cys Uncertain significance Single submitter
- FASTKD5 p.Ser534Arg Uncertain significance Single submitter
- FASTKD5 p.Ser542Pro Uncertain significance Single submitter
- FASTKD5 p.Ser73Arg Uncertain significance Single submitter
- FASTKD5 p.Ser89Gly Uncertain significance Single submitter
- FASTKD5 p.Thr90Ile Uncertain significance Single submitter
- FASTKD5 p.Thr90Lys Uncertain significance Single submitter
- FASTKD5 p.Tyr130Cys Uncertain significance Single submitter
- FASTKD5 p.Tyr228Cys Uncertain significance Single submitter
- FASTKD5 p.Tyr268Cys Uncertain significance Single submitter
- FASTKD5 p.Tyr399His Uncertain significance Single submitter
- FASTKD5 p.Tyr709Cys Uncertain significance Single submitter
- FASTKD5 p.Val563Ala Uncertain significance Single submitter
- FASTKD5 p.Val672Ile Uncertain significance Single submitter
- FASTKD5 p.Val699Phe Uncertain significance Single submitter
- FASTKD5 p.Val759Ala Uncertain significance Single submitter
- FASTKD5 p.Val759Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- FASTKD5 p.Arg364His Uncertain significance Single submitter
- FASTKD5 p.Arg727Trp Uncertain significance Single submitter
- FASTKD5 p.Asp518Gly Uncertain significance Single submitter
- FASTKD5 p.Gln706Arg Uncertain significance Single submitter
- FASTKD5 p.Leu284Ser Uncertain significance Single submitter
- FASTKD5 p.Leu511Pro Uncertain significance Single submitter
- FASTKD5 p.Met394Thr Uncertain significance Single submitter
- FASTKD5 p.Phe363Ile Uncertain significance Single submitter
- FASTKD5 p.Phe465Leu Uncertain significance Single submitter
- FASTKD5 p.Pro742Ser Uncertain significance Single submitter
- FASTKD5 p.Ser266Pro Uncertain significance Single submitter
- FASTKD5 p.Trp237Arg Uncertain significance Single submitter
- FASTKD5 p.Tyr707His Uncertain significance Single submitter
- FASTKD5 p.Val151Ala Uncertain significance Single submitter
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FASTKD5 p.Tyr125Cys
Pathogenic
No assertion criteria
Leigh syndrome
All FASTKD5 variants
Pathogenic 5
- p.Ala678fs No assertion criteria mitochondrial complex IV deficiency, nuclear type 24
- p.Arg404Cys No assertion criteria Leigh syndrome ⚠
- p.Leu634Pro No assertion criteria mitochondrial complex IV deficiency, nuclear type 24 ⚠
- p.Pro573fs No assertion criteria Leigh syndrome
- p.Tyr125Cys No assertion criteria Leigh syndrome ⚠
Likely benign 9
- p.Ala447Thr Single submitter
- p.Arg14Gln Single submitter
- p.Arg66Gln Single submitter
- p.Arg694Gly Single submitter
- p.Gln467Arg Single submitter
- p.Ile371Val Single submitter
- p.Pro76Leu Single submitter
- p.Val563Leu Single submitter
- p.Val576Ile Single submitter
Uncertain significance 98
- p.Ala381Val Single submitter ⚠
- p.Ala493Ser Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala638Gly Single submitter ⚠
- p.Ala678Thr Single submitter ⚠
- p.Ala687Thr Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg26Pro Single submitter ⚠
- p.Arg338Gln Single submitter ⚠
- p.Arg338Trp Single submitter ⚠
- p.Arg364His Single submitter ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg426Gln Single submitter
- p.Arg529Gly Single submitter ⚠
- p.Arg586Gln Single submitter ⚠
- p.Arg723Gln Single submitter
- p.Arg727Trp Single submitter ⚠
- p.Arg748Cys Single submitter ⚠
- p.Arg748Leu Single submitter ⚠
- p.Arg97Gly Single submitter ⚠
- p.Asn314Ser Single submitter ⚠
- p.Asn531Ser Single submitter ⚠
- p.Asn612Lys Single submitter ⚠
- p.Asp275Glu Single submitter ⚠
- p.Asp518Gly Single submitter ⚠
- p.Cys60Arg Single submitter ⚠
- p.Cys685Phe Single submitter ⚠
- p.Gln159His Single submitter ⚠
- p.Gln41His Single submitter ⚠
- p.Gln503Glu Single submitter ⚠
- p.Gln503His Single submitter ⚠
- p.Gln706Arg Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu303Val Single submitter ⚠
- p.Glu483Gln Single submitter ⚠
- p.Glu561Gln Single submitter ⚠
- p.Glu658Asp Single submitter ⚠
- p.Gly40Glu Single submitter ⚠
- p.Gly530Arg Single submitter ⚠
- p.Gly571Glu Single submitter ⚠
- p.Gly644Cys Single submitter ⚠
- p.His178Leu Single submitter ⚠
- p.His38Asn Single submitter ⚠
- p.His46Asn Single submitter ⚠
- p.His536Tyr Single submitter ⚠
- p.His579Arg Single submitter ⚠
- p.His620Arg Single submitter ⚠
- p.Ile163Thr Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile321Thr Single submitter ⚠
- p.Ile380Leu Single submitter ⚠
- p.Ile523Asn Single submitter ⚠
- p.Leu284Ile Single submitter ⚠
- p.Leu284Ser Single submitter ⚠
- p.Leu482Trp Single submitter
- p.Leu511Pro Single submitter ⚠
- p.Lys54Glu Single submitter ⚠
- p.Lys556Gln Single submitter ⚠
- p.Lys645Arg Single submitter ⚠
- p.Met224Val Single submitter ⚠
- p.Met394Thr Single submitter ⚠
- p.Met553Thr Single submitter ⚠
- p.Met690Ile Single submitter ⚠
- p.Phe363Ile Single submitter ⚠
- p.Phe465Leu Single submitter ⚠
- p.Phe63Leu Single submitter ⚠
- p.Pro19Ala Single submitter ⚠
- p.Pro420Arg Single submitter ⚠
- p.Pro420Ser Single submitter ⚠
- p.Pro445Ser Single submitter ⚠
- p.Pro742Ser Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser186Thr Single submitter ⚠
- p.Ser266Pro Single submitter ⚠
- p.Ser267Gly Single submitter ⚠
- p.Ser277Cys Single submitter ⚠
- p.Ser401Leu Single submitter ⚠
- p.Ser48Cys Single submitter ⚠
- p.Ser534Arg Single submitter ⚠
- p.Ser542Pro Single submitter ⚠
- p.Ser73Arg Single submitter ⚠
- p.Ser89Gly Single submitter ⚠
- p.Thr90Ile Single submitter ⚠
- p.Thr90Lys Single submitter ⚠
- p.Trp237Arg Single submitter ⚠
- p.Tyr130Cys Single submitter ⚠
- p.Tyr228Cys Single submitter ⚠
- p.Tyr268Cys Single submitter ⚠
- p.Tyr399His Single submitter ⚠
- p.Tyr707His Single submitter ⚠
- p.Tyr709Cys Single submitter ⚠
- p.Val151Ala Single submitter ⚠
- p.Val563Ala Single submitter ⚠
- p.Val672Ile Single submitter ⚠
- p.Val699Phe Single submitter ⚠
- p.Val759Ala Single submitter ⚠
- p.Val759Ile Single submitter ⚠