KCNK5 — 64 ClinVar variants
All ClinVar germline KCNK5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
2 Benign · 6 Likely benign · 56 Uncertain significance
Full KCNK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNK5 p.Ala221Thr Uncertain significance Single submitter
- KCNK5 p.Ala312Ser Uncertain significance Single submitter
- KCNK5 p.Ala376Pro Uncertain significance Single submitter
- KCNK5 p.Ala73Thr Uncertain significance Single submitter
- KCNK5 p.Arg112Cys Uncertain significance Single submitter
- KCNK5 p.Arg224Cys Uncertain significance Single submitter
- KCNK5 p.Arg260Gln Uncertain significance Single submitter
- KCNK5 p.Arg261Gln Uncertain significance Single submitter
- KCNK5 p.Arg274Gln Uncertain significance Single submitter
- KCNK5 p.Arg274Gly Uncertain significance Single submitter
- KCNK5 p.Arg351Trp Uncertain significance Single submitter
- KCNK5 p.Arg379Trp Uncertain significance Single submitter
- KCNK5 p.Asn442Ser Uncertain significance Single submitter
- KCNK5 p.Cys51Arg Uncertain significance Single submitter
- KCNK5 p.Gln146His Uncertain significance Single submitter
- KCNK5 p.Glu389Lys Uncertain significance Single submitter
- KCNK5 p.Glu401Asp Uncertain significance Single submitter
- KCNK5 p.Glu403Lys Uncertain significance Single submitter
- KCNK5 p.Glu440Lys Uncertain significance Single submitter
- KCNK5 p.Glu463Lys Uncertain significance Single submitter
- KCNK5 p.Glu484Gln Uncertain significance Single submitter
- KCNK5 p.Gly111Ser Uncertain significance Single submitter
- KCNK5 p.Gly281Glu Uncertain significance Single submitter
- KCNK5 p.Gly317Arg Uncertain significance Single submitter
- KCNK5 p.Gly53Asp Uncertain significance Single submitter
- KCNK5 p.Gly71Val Uncertain significance Single submitter
- KCNK5 p.Leu337Pro Uncertain significance Single submitter
- KCNK5 p.Leu443Phe Uncertain significance Single submitter
- KCNK5 p.Lys107Arg Uncertain significance Single submitter
- KCNK5 p.Lys310Arg Uncertain significance Single submitter
- KCNK5 p.Met392Val Uncertain significance Single submitter
- KCNK5 p.Phe391Leu Uncertain significance Single submitter
- KCNK5 p.Pro323Leu Uncertain significance Single submitter
- KCNK5 p.Pro338Ser Uncertain significance Single submitter
- KCNK5 p.Pro381Ser Uncertain significance Single submitter
- KCNK5 p.Pro388Ala Uncertain significance Single submitter
- KCNK5 p.Ser285Thr Uncertain significance Single submitter
- KCNK5 p.Ser340Ala Uncertain significance Single submitter
- KCNK5 p.Thr161Met Uncertain significance Single submitter
- KCNK5 p.Thr321Met Uncertain significance Single submitter
- KCNK5 p.Thr354Ile Uncertain significance Single submitter
- KCNK5 p.Thr361Ile Uncertain significance Single submitter
- KCNK5 p.Thr473Ile Uncertain significance Single submitter
- KCNK5 p.Val168Met Uncertain significance Single submitter
- KCNK5 p.Val181Ile Uncertain significance Single submitter
- KCNK5 p.Val288Ile Uncertain significance Single submitter
- KCNK5 p.Val352Met Uncertain significance Single submitter
- KCNK5 p.Val358Met Uncertain significance Single submitter
- KCNK5 p.Val368Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- KCNK5 p.Arg140Cys Uncertain significance Single submitter
- KCNK5 p.Arg261Trp Uncertain significance Single submitter
- KCNK5 p.Arg4Trp Uncertain significance Single submitter
- KCNK5 p.Ile256Thr Uncertain significance Single submitter
- KCNK5 p.Phe14Leu Uncertain significance Single submitter
- KCNK5 p.Phe14Tyr Uncertain significance Single submitter
All KCNK5 variants
Benign 2
- p.Ala407Thr Single submitter
- p.Pro465Thr Single submitter
Likely benign 6
- p.Ala457Val Single submitter
- p.Leu395= Single submitter
- p.Ser316= Single submitter
- p.Ser468= Single submitter
- p.Gly332Ser No assertion criteria KCNK5-related disorder
- p.Lys365Ile No assertion criteria KCNK5-related disorder
Uncertain significance 56
- p.Ala221Thr Single submitter ⚠
- p.Ala312Ser Single submitter ⚠
- p.Ala376Pro Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg274Gly Single submitter ⚠
- p.Arg351Trp Single submitter ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Asn103Ser Single submitter
- p.Asn442Ser Single submitter ⚠
- p.Cys51Arg Single submitter ⚠
- p.Gln146His Single submitter ⚠
- p.Glu389Lys Single submitter ⚠
- p.Glu401Asp Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu463Lys Single submitter ⚠
- p.Glu484Gln Single submitter ⚠
- p.Gly111Ser Single submitter ⚠
- p.Gly281Glu Single submitter ⚠
- p.Gly317Arg Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.Gly71Val Single submitter ⚠
- p.Ile256Thr Single submitter ⚠
- p.Leu337Pro Single submitter ⚠
- p.Leu443Phe Single submitter ⚠
- p.Lys107Arg Single submitter ⚠
- p.Lys310Arg Single submitter ⚠
- p.Met392Val Single submitter ⚠
- p.Phe14Leu Single submitter ⚠
- p.Phe14Tyr Single submitter ⚠
- p.Phe391Leu Single submitter ⚠
- p.Pro323Leu Single submitter ⚠
- p.Pro338Ser Single submitter ⚠
- p.Pro381Ser Single submitter ⚠
- p.Pro388Ala Single submitter ⚠
- p.Ser285Thr Single submitter ⚠
- p.Ser340Ala Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr321Met Single submitter ⚠
- p.Thr354Ile Single submitter ⚠
- p.Thr361Ile Single submitter ⚠
- p.Thr473Ile Single submitter ⚠
- p.Val168Met Single submitter ⚠
- p.Val181Ile Single submitter ⚠
- p.Val288Ile Single submitter ⚠
- p.Val352Met Single submitter ⚠
- p.Val358Met Single submitter ⚠
- p.Val368Ile Single submitter ⚠