AK8 — 74 ClinVar variants
All ClinVar germline AK8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
4 Likely benign · 70 Uncertain significance
Full AK8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AK8 p.Ala116Gly Uncertain significance Single submitter
- AK8 p.Ala116Val Uncertain significance Single submitter
- AK8 p.Ala265Thr Uncertain significance Single submitter
- AK8 p.Ala74Gly Uncertain significance Single submitter
- AK8 p.Arg179Ser Uncertain significance Single submitter
- AK8 p.Arg357Gln Uncertain significance Single submitter
- AK8 p.Arg367Cys Uncertain significance Single submitter
- AK8 p.Arg367His Uncertain significance Single submitter
- AK8 p.Arg9Cys Uncertain significance Single submitter
- AK8 p.Asn54Asp Uncertain significance Single submitter
- AK8 p.Asp181Asn Uncertain significance Single submitter
- AK8 p.Asp341Glu Uncertain significance Single submitter
- AK8 p.Asp344Gly Uncertain significance Single submitter
- AK8 p.Asp360Asn Uncertain significance Single submitter
- AK8 p.Asp41Glu Uncertain significance Single submitter
- AK8 p.Asp53His Uncertain significance Single submitter
- AK8 p.Glu197Lys Uncertain significance Single submitter
- AK8 p.His160Tyr Uncertain significance Single submitter
- AK8 p.His353Tyr Uncertain significance Single submitter
- AK8 p.His51Asn Uncertain significance Single submitter
- AK8 p.Leu219Gln Uncertain significance Single submitter
- AK8 p.Leu474Gln Uncertain significance Single submitter
- AK8 p.Lys281Arg Uncertain significance Single submitter
- AK8 p.Met405Ile Uncertain significance Single submitter
- AK8 p.Phe320Cys Uncertain significance Single submitter
- AK8 p.Phe96Cys Uncertain significance Single submitter
- AK8 p.Phe96Ile Uncertain significance Single submitter
- AK8 p.Pro11Ala Uncertain significance Single submitter
- AK8 p.Pro12Ala Uncertain significance Single submitter
- AK8 p.Pro12Arg Uncertain significance Single submitter
- AK8 p.Pro12Thr Uncertain significance Single submitter
- AK8 p.Pro231Ser Uncertain significance Single submitter
- AK8 p.Pro234Ser Uncertain significance Single submitter
- AK8 p.Pro276Leu Uncertain significance Single submitter
- AK8 p.Pro356Leu Uncertain significance Single submitter
- AK8 p.Pro372Thr Uncertain significance Single submitter
- AK8 p.Pro7Leu Uncertain significance Single submitter
- AK8 p.Ser330Gly Uncertain significance Single submitter
- AK8 p.Thr157Ile Uncertain significance Single submitter
- AK8 p.Thr184Ile Uncertain significance Single submitter
- AK8 p.Thr215Met Uncertain significance Single submitter
- AK8 p.Thr312Met Uncertain significance Single submitter
- AK8 p.Thr99Ala Uncertain significance Single submitter
- AK8 p.Tyr98Cys Uncertain significance Single submitter
- AK8 p.Val161Ile Uncertain significance Single submitter
- AK8 p.Val249Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AK8 p.Ala67Thr Uncertain significance Single submitter
- AK8 p.Arg125Cys Uncertain significance Single submitter
- AK8 p.Arg125His Uncertain significance Single submitter
- AK8 p.Arg203Cys Uncertain significance Single submitter
- AK8 p.Arg374Ser Uncertain significance Single submitter
- AK8 p.Asp2Asn Uncertain significance Single submitter
- AK8 p.Asp458Asn Uncertain significance Single submitter
- AK8 p.Asp458Glu Uncertain significance Single submitter
- AK8 p.Gln342Pro Uncertain significance Single submitter
- AK8 p.Glu173Lys Uncertain significance Single submitter
- AK8 p.Glu464Gln Uncertain significance Single submitter
- AK8 p.Glu464Lys Uncertain significance Single submitter
- AK8 p.Gly18Trp Uncertain significance Single submitter
- AK8 p.Gly354Ser Uncertain significance Single submitter
- AK8 p.Ile172Ser Uncertain significance Single submitter
- AK8 p.Phe267Leu Uncertain significance Single submitter
- AK8 p.Pro245Gln Uncertain significance Single submitter
- AK8 p.Thr4Ile Uncertain significance Single submitter
- AK8 p.Tyr107Cys Uncertain significance Single submitter
- AK8 p.Val170Ala Uncertain significance Single submitter
- AK8 p.Val327Ala Uncertain significance Single submitter
All AK8 variants
Likely benign 4
- p.Glu40Lys Single submitter
- p.Phe382Leu Single submitter
- p.Ser84Asn Single submitter
- p.Thr4Ala Single submitter
Uncertain significance 70
- p.Ala116Gly Single submitter ⚠
- p.Ala116Val Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala74Gly Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg179Ser Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg357Gln Single submitter ⚠
- p.Arg367Cys Single submitter ⚠
- p.Arg367His Single submitter ⚠
- p.Arg374Ser Single submitter ⚠
- p.Arg9Cys Single submitter ⚠
- p.Asn54Asp Single submitter ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp2Asn Single submitter ⚠
- p.Asp341Glu Single submitter ⚠
- p.Asp344Gly Single submitter ⚠
- p.Asp360Asn Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Asp458Asn Single submitter ⚠
- p.Asp458Glu Single submitter ⚠
- p.Asp53His Single submitter ⚠
- p.Gln342Pro Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu464Gln Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Gly18Trp Single submitter ⚠
- p.Gly354Ser Single submitter ⚠
- p.Gly469Glu Single submitter
- p.His160Tyr Single submitter ⚠
- p.His353Tyr Single submitter ⚠
- p.His51Asn Single submitter ⚠
- p.Ile172Ser Single submitter ⚠
- p.Leu219Gln Single submitter ⚠
- p.Leu474Gln Single submitter ⚠
- p.Lys281Arg Single submitter ⚠
- p.Met405Ile Single submitter ⚠
- p.Phe267Leu Single submitter ⚠
- p.Phe320Cys Single submitter ⚠
- p.Phe96Cys Single submitter ⚠
- p.Phe96Ile Single submitter ⚠
- p.Pro11Ala Single submitter ⚠
- p.Pro12Ala Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Pro245Gln Single submitter ⚠
- p.Pro276Leu Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro372Thr Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser330Gly Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr184Ile Single submitter ⚠
- p.Thr191Ile Single submitter
- p.Thr215Met Single submitter ⚠
- p.Thr312Met Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Thr99Ala Single submitter ⚠
- p.Tyr107Cys Single submitter ⚠
- p.Tyr98Cys Single submitter ⚠
- p.Val113Ala Single submitter
- p.Val161Ile Single submitter ⚠
- p.Val170Ala Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val327Ala Single submitter ⚠