AK5 — 72 ClinVar variants
All ClinVar germline AK5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
4 Benign · 3 Likely benign · 65 Uncertain significance
Full AK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AK5 p.Arg76Gln Uncertain significance Single submitter
- AK5 p.Arg76Trp Uncertain significance Single submitter
- AK5 p.Arg97Gln Uncertain significance Single submitter
- AK5 p.Arg97Trp Uncertain significance Single submitter
- AK5 p.Asn177Ser Uncertain significance Single submitter
- AK5 p.Asn322Ser Uncertain significance Single submitter
- AK5 p.Asn495Ser Uncertain significance Single submitter
- AK5 p.Asp266Asn Uncertain significance Single submitter
- AK5 p.Asp303Asn Uncertain significance Single submitter
- AK5 p.Gln226Arg Uncertain significance Single submitter
- AK5 p.Gln357Arg Uncertain significance Single submitter
- AK5 p.Glu394Ala Uncertain significance Single submitter
- AK5 p.Glu394Lys Uncertain significance Single submitter
- AK5 p.Glu409Gln Uncertain significance Single submitter
- AK5 p.Gly354Val Uncertain significance Single submitter
- AK5 p.Gly474Arg Uncertain significance Single submitter
- AK5 p.Gly474Glu Uncertain significance Single submitter
- AK5 p.Ile337Thr Uncertain significance Single submitter
- AK5 p.Leu18Arg Uncertain significance Single submitter
- AK5 p.Met296Val Uncertain significance Single submitter
- AK5 p.Met366Thr Uncertain significance Single submitter
- AK5 p.Met448Ile Uncertain significance Single submitter
- AK5 p.Phe90Cys Uncertain significance Single submitter
- AK5 p.Pro16Leu Uncertain significance Single submitter
- AK5 p.Pro264Leu Uncertain significance Single submitter
- AK5 p.Pro91Ser Uncertain significance Single submitter
- AK5 p.Ser113Phe Uncertain significance Single submitter
- AK5 p.Thr128Ala Uncertain significance Single submitter
- AK5 p.Thr189Ala Uncertain significance Single submitter
- AK5 p.Thr511Ala Uncertain significance Single submitter
- AK5 p.Thr534Ala Uncertain significance Single submitter
- AK5 p.Trp56Arg Uncertain significance Single submitter
- AK5 p.Val163Met Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- AK5 p.Arg155Gln Uncertain significance Single submitter
- AK5 p.Arg155Gly Uncertain significance Single submitter
- AK5 p.Arg412His Uncertain significance Single submitter
- AK5 p.Arg431Cys Uncertain significance Single submitter
- AK5 p.Arg431His Uncertain significance Single submitter
- AK5 p.Arg465Trp Uncertain significance Single submitter
- AK5 p.Arg475His Uncertain significance Single submitter
- AK5 p.Arg502Trp Uncertain significance Single submitter
- AK5 p.Arg94Trp Uncertain significance Single submitter
- AK5 p.Asp232Asn Uncertain significance Single submitter
- AK5 p.Cys376Arg Uncertain significance Single submitter
- AK5 p.Glu32Lys Uncertain significance Single submitter
- AK5 p.Glu548Lys Uncertain significance Single submitter
- AK5 p.Gly390Ala Uncertain significance Single submitter
- AK5 p.Gly453Arg Uncertain significance Single submitter
- AK5 p.Gly462Ser Uncertain significance Single submitter
- AK5 p.Gly545Ala Uncertain significance Single submitter
- AK5 p.Ile186Thr Uncertain significance Single submitter
- AK5 p.Leu319Phe Uncertain significance Single submitter
- AK5 p.Leu434Pro Uncertain significance Single submitter
- AK5 p.Lys251Glu Uncertain significance Single submitter
- AK5 p.Lys468Met Uncertain significance Single submitter
- AK5 p.Lys65Asn Uncertain significance Single submitter
- AK5 p.Met429Thr Uncertain significance Single submitter
- AK5 p.Phe298Cys Uncertain significance Single submitter
- AK5 p.Ser173Asn Uncertain significance Single submitter
- AK5 p.Ser335Leu Uncertain significance Single submitter
- AK5 p.Ser504Arg Uncertain significance Single submitter
- AK5 p.Thr58Ala Uncertain significance Single submitter
- AK5 p.Tyr532Phe Uncertain significance Single submitter
- AK5 p.Val124Gly Uncertain significance Single submitter
- AK5 p.Val528Met Uncertain significance Single submitter
All AK5 variants
Benign 4
- c.1059+12C>T Multiple submitters
- c.1621-3T>C Multiple submitters
- p.Lys203= Multiple submitters
- p.Ile561dup Single submitter
Likely benign 3
- p.Glu120= Single submitter
- p.Gly438= Single submitter
- p.Val440Ile Single submitter
Uncertain significance 65
- p.Arg155Gln Single submitter ⚠
- p.Arg155Gly Single submitter ⚠
- p.Arg412His Single submitter ⚠
- p.Arg431Cys Single submitter ⚠
- p.Arg431His Single submitter ⚠
- p.Arg465Trp Single submitter ⚠
- p.Arg475His Single submitter ⚠
- p.Arg502Trp Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Asn177Ser Single submitter ⚠
- p.Asn322Ser Single submitter ⚠
- p.Asn495Ser Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Asp266Asn Single submitter ⚠
- p.Asp303Asn Single submitter ⚠
- p.Cys376Arg Single submitter ⚠
- p.Gln226Arg Single submitter ⚠
- p.Gln357Arg Single submitter ⚠
- p.Glu32Lys Single submitter ⚠
- p.Glu394Ala Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu409Gln Single submitter ⚠
- p.Glu548Lys Single submitter ⚠
- p.Gly354Val Single submitter ⚠
- p.Gly390Ala Single submitter ⚠
- p.Gly453Arg Single submitter ⚠
- p.Gly462Ser Single submitter ⚠
- p.Gly474Arg Single submitter ⚠
- p.Gly474Glu Single submitter ⚠
- p.Gly545Ala Single submitter ⚠
- p.Ile186Thr Single submitter ⚠
- p.Ile337Thr Single submitter ⚠
- p.Leu18Arg Single submitter ⚠
- p.Leu319Phe Single submitter ⚠
- p.Leu434Pro Single submitter ⚠
- p.Lys251Glu Single submitter ⚠
- p.Lys468Met Single submitter ⚠
- p.Lys65Asn Single submitter ⚠
- p.Met296Val Single submitter ⚠
- p.Met366Thr Single submitter ⚠
- p.Met429Thr Single submitter ⚠
- p.Met448Ile Single submitter ⚠
- p.Phe298Cys Single submitter ⚠
- p.Phe90Cys Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro264Leu Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser173Asn Single submitter ⚠
- p.Ser335Leu Single submitter ⚠
- p.Ser504Arg Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Thr511Ala Single submitter ⚠
- p.Thr534Ala Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Trp56Arg Single submitter ⚠
- p.Tyr532Phe Single submitter ⚠
- p.Val124Gly Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val528Met Single submitter ⚠