AKNAD1 — 122 ClinVar variants
All ClinVar germline AKNAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
15 Likely benign · 107 Uncertain significance
Full AKNAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKNAD1 p.Ala146Thr Uncertain significance Single submitter
- AKNAD1 p.Ala146Val Uncertain significance Single submitter
- AKNAD1 p.Ala283Pro Uncertain significance Single submitter
- AKNAD1 p.Ala638Thr Uncertain significance Single submitter
- AKNAD1 p.Ala707Thr Uncertain significance Single submitter
- AKNAD1 p.Ala80Ser Uncertain significance Single submitter
- AKNAD1 p.Arg176Ser Uncertain significance Single submitter
- AKNAD1 p.Arg729Gln Uncertain significance Single submitter
- AKNAD1 p.Asn211Ser Uncertain significance Single submitter
- AKNAD1 p.Asn719Ser Uncertain significance Single submitter
- AKNAD1 p.Asn82Lys Uncertain significance Single submitter
- AKNAD1 p.Asp301Asn Uncertain significance Single submitter
- AKNAD1 p.Asp53Glu Uncertain significance Single submitter
- AKNAD1 p.Asp762Asn Uncertain significance Single submitter
- AKNAD1 p.Asp785Gly Uncertain significance Single submitter
- AKNAD1 p.Cys381Tyr Uncertain significance Single submitter
- AKNAD1 p.Cys604Ser Uncertain significance Single submitter
- AKNAD1 p.Cys680Phe Uncertain significance Single submitter
- AKNAD1 p.Cys91Arg Uncertain significance Single submitter
- AKNAD1 p.Cys91Tyr Uncertain significance Single submitter
- AKNAD1 p.Gln14Pro Uncertain significance Single submitter
- AKNAD1 p.Gln537Lys Uncertain significance Single submitter
- AKNAD1 p.Gln90Glu Uncertain significance Single submitter
- AKNAD1 p.Glu101Asp Uncertain significance Single submitter
- AKNAD1 p.Glu167Lys Uncertain significance Single submitter
- AKNAD1 p.Glu210Lys Uncertain significance Single submitter
- AKNAD1 p.Glu304Gly Uncertain significance Single submitter
- AKNAD1 p.Glu386Asp Uncertain significance Single submitter
- AKNAD1 p.Glu3Lys Uncertain significance Single submitter
- AKNAD1 p.Glu42Lys Uncertain significance Single submitter
- AKNAD1 p.Glu542Lys Uncertain significance Single submitter
- AKNAD1 p.Glu62Lys Uncertain significance Single submitter
- AKNAD1 p.Glu660Asp Uncertain significance Single submitter
- AKNAD1 p.Glu86Lys Uncertain significance Single submitter
- AKNAD1 p.Glu88Gln Uncertain significance Single submitter
- AKNAD1 p.Gly178Ser Uncertain significance Single submitter
- AKNAD1 p.Gly40Asp Uncertain significance Single submitter
- AKNAD1 p.Gly529Arg Uncertain significance Single submitter
- AKNAD1 p.His316Arg Uncertain significance Single submitter
- AKNAD1 p.His423Gln Uncertain significance Single submitter
- AKNAD1 p.His635Arg Uncertain significance Single submitter
- AKNAD1 p.His702Tyr Uncertain significance Single submitter
- AKNAD1 p.His801Tyr Uncertain significance Single submitter
- AKNAD1 p.Ile112Asn Uncertain significance Single submitter
- AKNAD1 p.Ile513Thr Uncertain significance Single submitter
- AKNAD1 p.Ile790Met Uncertain significance Single submitter
- AKNAD1 p.Leu117Ile Uncertain significance Single submitter
- AKNAD1 p.Leu133Pro Uncertain significance Single submitter
- AKNAD1 p.Leu41Pro Uncertain significance Single submitter
- AKNAD1 p.Lys157Glu Uncertain significance Single submitter
- AKNAD1 p.Lys235Ile Uncertain significance Single submitter
- AKNAD1 p.Lys75Asn Uncertain significance Single submitter
- AKNAD1 p.Lys835Asn Uncertain significance Single submitter
- AKNAD1 p.Met575Ile Uncertain significance Single submitter
- AKNAD1 p.Phe506Cys Uncertain significance Single submitter
- AKNAD1 p.Phe784Val Uncertain significance Single submitter
- AKNAD1 p.Pro166Thr Uncertain significance Single submitter
- AKNAD1 p.Pro174Leu Uncertain significance Single submitter
- AKNAD1 p.Pro307Thr Uncertain significance Single submitter
- AKNAD1 p.Pro326Ser Uncertain significance Single submitter
- AKNAD1 p.Pro521Leu Uncertain significance Single submitter
- AKNAD1 p.Pro540Gln Uncertain significance Single submitter
- AKNAD1 p.Pro540Thr Uncertain significance Single submitter
- AKNAD1 p.Pro589Leu Uncertain significance Single submitter
- AKNAD1 p.Pro639Ser Uncertain significance Single submitter
- AKNAD1 p.Pro645Ser Uncertain significance Single submitter
- AKNAD1 p.Pro684Ser Uncertain significance Single submitter
- AKNAD1 p.Pro746Ser Uncertain significance Single submitter
- AKNAD1 p.Ser287Gly Uncertain significance Single submitter
- AKNAD1 p.Ser365Pro Uncertain significance Single submitter
- AKNAD1 p.Thr10Met Uncertain significance Single submitter
- AKNAD1 p.Thr132Asn Uncertain significance Single submitter
- AKNAD1 p.Thr165Asn Uncertain significance Single submitter
- AKNAD1 p.Thr165Ile Uncertain significance Single submitter
- AKNAD1 p.Thr440Ile Uncertain significance Single submitter
- AKNAD1 p.Thr451Ala Uncertain significance Single submitter
- AKNAD1 p.Thr505Ser Uncertain significance Single submitter
- AKNAD1 p.Thr747Lys Uncertain significance Single submitter
- AKNAD1 p.Tyr556Cys Uncertain significance Single submitter
- AKNAD1 p.Tyr759Cys Uncertain significance Single submitter
- AKNAD1 p.Val336Ile Uncertain significance Single submitter
- AKNAD1 p.Val43Ile Uncertain significance Single submitter
- AKNAD1 p.Val453Ile Uncertain significance Single submitter
- AKNAD1 p.Val617Leu Uncertain significance Single submitter
- AKNAD1 p.Val735Met Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- AKNAD1 p.Arg608Leu Uncertain significance Single submitter
- AKNAD1 p.Arg729Trp Likely benign Single submitter
- AKNAD1 p.Asp103Tyr Uncertain significance Single submitter
- AKNAD1 p.Cys604Tyr Uncertain significance Single submitter
- AKNAD1 p.Gln379His Uncertain significance Single submitter
- AKNAD1 p.Gln442Pro Uncertain significance Single submitter
- AKNAD1 p.Ile275Met Uncertain significance Single submitter
- AKNAD1 p.Leu280Phe Uncertain significance Single submitter
- AKNAD1 p.Met380Ile Uncertain significance Single submitter
- AKNAD1 p.Phe122Leu Uncertain significance Single submitter
- AKNAD1 p.Phe431Leu Uncertain significance Single submitter
- AKNAD1 p.Phe456Leu Uncertain significance Single submitter
- AKNAD1 p.Phe630Leu Uncertain significance Single submitter
- AKNAD1 p.Phe756Leu Uncertain significance Single submitter
- AKNAD1 p.Ser207Cys Uncertain significance Single submitter
- AKNAD1 p.Ser302Gly Uncertain significance Single submitter
- AKNAD1 p.Ser353Phe Likely benign Single submitter
- AKNAD1 p.Ser406Phe Uncertain significance Single submitter
- AKNAD1 p.Ser739Tyr Uncertain significance Single submitter
- AKNAD1 p.Ser792Phe Uncertain significance Single submitter
- AKNAD1 p.Thr189Met Likely benign Single submitter
- AKNAD1 p.Thr246Met Uncertain significance Single submitter
- AKNAD1 p.Thr388Ser Uncertain significance Single submitter
- AKNAD1 p.Thr598Met Uncertain significance Single submitter
- AKNAD1 p.Val395Leu Uncertain significance Single submitter
All AKNAD1 variants
Likely benign 15
- p.Ala281Thr Single submitter
- p.Ala566Val Single submitter
- p.Arg525Gln Single submitter
- p.Arg729Trp Single submitter ⚠
- p.Arg833Gln Single submitter
- p.Asp668Asn Single submitter
- p.Asp715His Single submitter
- p.Gly321Arg Single submitter
- p.Gly65Arg Single submitter
- p.Ile790Thr Single submitter
- p.Lys274Asn Single submitter
- p.Pro259Ser Single submitter
- p.Ser353Phe Single submitter ⚠
- p.Thr189Met Single submitter ⚠
- p.Thr819Met Single submitter
Uncertain significance 107
- p.Ala146Thr Single submitter ⚠
- p.Ala146Val Single submitter ⚠
- p.Ala283Pro Single submitter ⚠
- p.Ala638Thr Single submitter ⚠
- p.Ala707Thr Single submitter ⚠
- p.Ala80Ser Single submitter ⚠
- p.Arg176Ser Single submitter ⚠
- p.Arg608Leu Single submitter ⚠
- p.Arg729Gln Single submitter ⚠
- p.Asn211Ser Single submitter ⚠
- p.Asn719Ser Single submitter ⚠
- p.Asn82Lys Single submitter ⚠
- p.Asp103Tyr Single submitter ⚠
- p.Asp301Asn Single submitter ⚠
- p.Asp53Glu Single submitter ⚠
- p.Asp762Asn Single submitter ⚠
- p.Asp785Gly Single submitter ⚠
- p.Cys381Tyr Single submitter ⚠
- p.Cys604Ser Single submitter ⚠
- p.Cys604Tyr Single submitter ⚠
- p.Cys680Phe Single submitter ⚠
- p.Cys91Arg Single submitter ⚠
- p.Cys91Tyr Single submitter ⚠
- p.Gln14Pro Single submitter ⚠
- p.Gln379His Single submitter ⚠
- p.Gln442Pro Single submitter ⚠
- p.Gln537Lys Single submitter ⚠
- p.Gln90Glu Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu304Gly Single submitter ⚠
- p.Glu386Asp Single submitter ⚠
- p.Glu3Lys Single submitter ⚠
- p.Glu42Lys Single submitter ⚠
- p.Glu542Lys Single submitter ⚠
- p.Glu62Lys Single submitter ⚠
- p.Glu660Asp Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Glu88Gln Single submitter ⚠
- p.Gly178Ser Single submitter ⚠
- p.Gly40Asp Single submitter ⚠
- p.Gly529Arg Single submitter ⚠
- p.His316Arg Single submitter ⚠
- p.His423Gln Single submitter ⚠
- p.His635Arg Single submitter ⚠
- p.His702Tyr Single submitter ⚠
- p.His801Tyr Single submitter ⚠
- p.Ile112Asn Single submitter ⚠
- p.Ile275Met Single submitter ⚠
- p.Ile513Thr Single submitter ⚠
- p.Ile790Met Single submitter ⚠
- p.Leu117Ile Single submitter ⚠
- p.Leu133Pro Single submitter ⚠
- p.Leu280Phe Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Lys157Glu Single submitter ⚠
- p.Lys235Ile Single submitter ⚠
- p.Lys75Asn Single submitter ⚠
- p.Lys835Asn Single submitter ⚠
- p.Met380Ile Single submitter ⚠
- p.Met575Ile Single submitter ⚠
- p.Phe122Leu Single submitter ⚠
- p.Phe431Leu Single submitter ⚠
- p.Phe456Leu Single submitter ⚠
- p.Phe506Cys Single submitter ⚠
- p.Phe630Leu Single submitter ⚠
- p.Phe756Leu Single submitter ⚠
- p.Phe784Val Single submitter ⚠
- p.Pro166Thr Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro307Thr Single submitter ⚠
- p.Pro326Ser Single submitter ⚠
- p.Pro521Leu Single submitter ⚠
- p.Pro540Gln Single submitter ⚠
- p.Pro540Thr Single submitter ⚠
- p.Pro589Leu Single submitter ⚠
- p.Pro639Ser Single submitter ⚠
- p.Pro645Ser Single submitter ⚠
- p.Pro684Ser Single submitter ⚠
- p.Pro746Ser Single submitter ⚠
- p.Ser207Cys Single submitter ⚠
- p.Ser287Gly Single submitter ⚠
- p.Ser302Gly Single submitter ⚠
- p.Ser365Pro Single submitter ⚠
- p.Ser406Phe Single submitter ⚠
- p.Ser739Tyr Single submitter ⚠
- p.Ser792Phe Single submitter ⚠
- p.Thr10Met Single submitter ⚠
- p.Thr132Asn Single submitter ⚠
- p.Thr165Asn Single submitter ⚠
- p.Thr165Ile Single submitter ⚠
- p.Thr246Met Single submitter ⚠
- p.Thr388Ser Single submitter ⚠
- p.Thr440Ile Single submitter ⚠
- p.Thr451Ala Single submitter ⚠
- p.Thr505Ser Single submitter ⚠
- p.Thr598Met Single submitter ⚠
- p.Thr747Lys Single submitter ⚠
- p.Tyr556Cys Single submitter ⚠
- p.Tyr759Cys Single submitter ⚠
- p.Val336Ile Single submitter ⚠
- p.Val395Leu Single submitter ⚠
- p.Val43Ile Single submitter ⚠
- p.Val453Ile Single submitter ⚠
- p.Val617Leu Single submitter ⚠
- p.Val735Met Single submitter ⚠