Sugi Variant

Sugi Variant/KCNA5

KCNA5 — 581 ClinVar variants

All ClinVar germline KCNA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 360 flagged for review →

3 Pathogenic · 32 Conflicting · 4 Benign · 10 Benign/Likely benign · 114 Likely benign · 418 Uncertain significance

Full KCNA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 360

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.

Predictors agree, ClinVar conflicts 21

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 282

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 282

Predictors split 55

The independent predictors disagree with each other — read with care.

All KCNA5 variants

Pathogenic 3

  • p.Glu375Ter No assertion criteria atrial fibrillation, familial, 7
  • p.Glu48Gly No assertion criteria atrial fibrillation, familial, 7 ⚠
  • p.Glu610Lys No assertion criteria atrial fibrillation, familial, 7 ⚠

Conflicting classifications of pathogenicity 32

Benign 4

  • c.-167C>T Multiple submitters atrial fibrillation, familial, 7
  • c.*508A>T Multiple submitters atrial fibrillation, familial, 7
  • c.*736A>T Single submitter atrial fibrillation, familial, 7
  • p.Ala451= Single submitter atrial fibrillation, familial, 7

Benign/Likely benign 10

  • p.Ala251Thr Multiple submitters atrial fibrillation, familial, 7
  • p.Ala60= Multiple submitters atrial fibrillation, familial, 7
  • p.Asp157= Multiple submitters atrial fibrillation, familial, 7
  • p.Gly31Val Multiple submitters atrial fibrillation, familial, 7
  • p.Gly384Arg Multiple submitters atrial fibrillation, familial, 7
  • p.Leu499= Multiple submitters atrial fibrillation, familial, 7
  • p.Pro310Leu Multiple submitters atrial fibrillation, familial, 7
  • p.Pro69= Multiple submitters atrial fibrillation, familial, 7
  • p.Pro77Ser Multiple submitters atrial fibrillation, familial, 7 ⚠
  • p.Ser127= Multiple submitters atrial fibrillation, familial, 7

Likely benign 114

  • p.Ala287Val Multiple submitters atrial fibrillation, familial, 7
  • p.Ala29Asp Multiple submitters atrial fibrillation, familial, 7
  • p.Cys26= Multiple submitters atrial fibrillation, familial, 7
  • p.Glu217= Multiple submitters atrial fibrillation, familial, 7
  • p.Glu571= Multiple submitters atrial fibrillation, familial, 7
  • p.Gly74Glu Multiple submitters atrial fibrillation, familial, 7
  • p.His284= Multiple submitters atrial fibrillation, familial, 7
  • p.Leu320= Multiple submitters atrial fibrillation, familial, 7
  • p.Phe411= Multiple submitters atrial fibrillation, familial, 7
  • p.Pro149= Multiple submitters atrial fibrillation, familial, 7
  • p.Pro532= Multiple submitters atrial fibrillation, familial, 7
  • p.Ser181= Multiple submitters atrial fibrillation, familial, 7
  • p.Thr462= Multiple submitters atrial fibrillation, familial, 7
  • p.Thr569= Multiple submitters atrial fibrillation, familial, 7
  • p.Tyr521= Multiple submitters atrial fibrillation, familial, 7
  • c.-259_-258insAA Single submitter
  • c.-262GGC[1] Single submitter
  • c.*543G>C Single submitter atrial fibrillation, familial, 7
  • p.Ala111Val Single submitter Inborn genetic diseases
  • p.Ala321Thr Single submitter atrial fibrillation, familial, 7
  • p.Ala429= Single submitter atrial fibrillation, familial, 7
  • p.Ala503= Single submitter atrial fibrillation, familial, 7
  • p.Arg130= Single submitter atrial fibrillation, familial, 7
  • p.Arg169= Single submitter atrial fibrillation, familial, 7
  • p.Arg187= Single submitter atrial fibrillation, familial, 7
  • p.Arg212= Single submitter atrial fibrillation, familial, 7
  • p.Arg214= Single submitter atrial fibrillation, familial, 7
  • p.Arg23= Single submitter atrial fibrillation, familial, 7
  • p.Arg276= Single submitter atrial fibrillation, familial, 7
  • p.Arg354= Single submitter atrial fibrillation, familial, 7
  • p.Arg406= Single submitter atrial fibrillation, familial, 7
  • p.Arg54= Single submitter atrial fibrillation, familial, 7
  • p.Arg550= Single submitter atrial fibrillation, familial, 7
  • p.Arg554= Single submitter atrial fibrillation, familial, 7
  • p.Arg560= Single submitter atrial fibrillation, familial, 7
  • p.Arg597= Single submitter atrial fibrillation, familial, 7
  • p.Arg609= Single submitter atrial fibrillation, familial, 7
  • p.Asn230= Single submitter atrial fibrillation, familial, 7
  • p.Asn299= Single submitter atrial fibrillation, familial, 7
  • p.Asn459= Single submitter atrial fibrillation, familial, 7
  • p.Asp207= Single submitter atrial fibrillation, familial, 7
  • p.Asp361= Single submitter
  • p.Asp469= Single submitter atrial fibrillation, familial, 7
  • p.Asp61= Single submitter atrial fibrillation, familial, 7
  • p.Cys268= Single submitter atrial fibrillation, familial, 7
  • p.Gln134= Single submitter atrial fibrillation, familial, 7
  • p.Gln204= Single submitter atrial fibrillation, familial, 7
  • p.Gln290= Single submitter atrial fibrillation, familial, 7
  • p.Glu208= Single submitter atrial fibrillation, familial, 7
  • p.Glu9= Single submitter
  • p.Glu94= Single submitter atrial fibrillation, familial, 7
  • p.Glu97= Single submitter atrial fibrillation, familial, 7
  • p.Gly147= Single submitter atrial fibrillation, familial, 7
  • p.Gly183= Single submitter atrial fibrillation, familial, 7
  • p.Gly247= Single submitter atrial fibrillation, familial, 7
  • p.Gly302= Single submitter
  • p.Gly383= Single submitter atrial fibrillation, familial, 7
  • p.Gly390= Single submitter atrial fibrillation, familial, 7
  • p.Gly45= Single submitter atrial fibrillation, familial, 7
  • p.Gly504= Single submitter atrial fibrillation, familial, 7
  • p.Gly547= Single submitter atrial fibrillation, familial, 7
  • p.Ile126= Single submitter atrial fibrillation, familial, 7
  • p.Ile239= Single submitter atrial fibrillation, familial, 7
  • p.Ile260= Single submitter atrial fibrillation, familial, 7
  • p.Ile264= Single submitter atrial fibrillation, familial, 7
  • p.Ile265= Single submitter atrial fibrillation, familial, 7
  • p.Ile443= Single submitter atrial fibrillation, familial, 7
  • p.Ile495= Single submitter atrial fibrillation, familial, 7
  • p.Ile515= Single submitter atrial fibrillation, familial, 7
  • p.Leu117= Single submitter atrial fibrillation, familial, 7
  • p.Leu146= Single submitter
  • p.Leu159= Single submitter atrial fibrillation, familial, 7
  • p.Leu176= Single submitter atrial fibrillation, familial, 7
  • p.Leu205= Single submitter atrial fibrillation, familial, 7
  • p.Leu272= Single submitter atrial fibrillation, familial, 7
  • p.Leu281= Single submitter atrial fibrillation, familial, 7
  • p.Leu315= Single submitter atrial fibrillation, familial, 7
  • p.Leu340= Single submitter atrial fibrillation, familial, 7
  • p.Leu372= Single submitter atrial fibrillation, familial, 7
  • p.Leu376= Single submitter
  • p.Leu81= Single submitter atrial fibrillation, familial, 7
  • p.Lys225= Single submitter atrial fibrillation, familial, 7
  • p.Lys536= Single submitter atrial fibrillation, familial, 7
  • p.Phe141= Single submitter atrial fibrillation, familial, 7
  • p.Phe335= Single submitter atrial fibrillation, familial, 7
  • p.Phe337= Single submitter atrial fibrillation, familial, 7
  • p.Phe439= Single submitter atrial fibrillation, familial, 7
  • p.Pro142= Single submitter atrial fibrillation, familial, 7
  • p.Pro158= Single submitter atrial fibrillation, familial, 7
  • p.Pro226= Single submitter atrial fibrillation, familial, 7
  • p.Pro286= Single submitter atrial fibrillation, familial, 7
  • p.Pro294= Single submitter atrial fibrillation, familial, 7
  • p.Pro314= Single submitter atrial fibrillation, familial, 7
  • p.Pro49= Single submitter atrial fibrillation, familial, 7
  • p.Pro513= Single submitter atrial fibrillation, familial, 7
  • p.Pro546= Single submitter atrial fibrillation, familial, 7
  • p.Pro546Leu Single submitter
  • p.Pro73= Single submitter atrial fibrillation, familial, 7
  • p.Pro80Arg Single submitter
  • p.Pro93= Single submitter atrial fibrillation, familial, 7
  • p.Ser248= Single submitter atrial fibrillation, familial, 7
  • p.Ser414= Single submitter atrial fibrillation, familial, 7
  • p.Ser449= Single submitter atrial fibrillation, familial, 7
  • p.Ser599= Single submitter atrial fibrillation, familial, 7
  • p.Thr114= Single submitter atrial fibrillation, familial, 7
  • p.Thr137= Single submitter atrial fibrillation, familial, 7
  • p.Thr144= Single submitter
  • p.Thr311= Single submitter atrial fibrillation, familial, 7
  • p.Thr319= Single submitter atrial fibrillation, familial, 7
  • p.Thr374= Single submitter atrial fibrillation, familial, 7
  • p.Tyr483= Single submitter atrial fibrillation, familial, 7
  • p.Val236= Single submitter atrial fibrillation, familial, 7
  • p.Val303= Single submitter atrial fibrillation, familial, 7
  • p.Val588= Single submitter atrial fibrillation, familial, 7

Uncertain significance 418

Showing the top 300 by review status; the full set is in the sitemap.