KCNA6 — 82 ClinVar variants
All ClinVar germline KCNA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 2 Likely benign · 76 Uncertain significance
Full KCNA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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KCNA6 p.Asp230His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNA6 p.Tyr100His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNA6 p.Val394Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNA6 p.Ala290Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ala399Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ala95Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Arg16Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Arg174Met Uncertain significance Single submitter
-
KCNA6 p.Arg213Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Arg281Pro Uncertain significance Single submitter
-
KCNA6 p.Arg345Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Arg508Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Arg51His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Arg81Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Arg90Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Asp230Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Asp261His Uncertain significance Single submitter
- KCNA6 p.Asp411Tyr Uncertain significance Single submitter
- KCNA6 p.Cys192Tyr Uncertain significance Single submitter
- KCNA6 p.Gln474Glu Uncertain significance Single submitter
- KCNA6 p.Gly17Arg Uncertain significance Single submitter
-
KCNA6 p.Gly237Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gly246Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gly26Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gly33Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Gly426Arg Uncertain significance Single submitter
- KCNA6 p.Gly446Arg Uncertain significance Single submitter
-
KCNA6 p.His236Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.His517Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ile304Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ile352Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ile380Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Ile437Thr Uncertain significance Single submitter
- KCNA6 p.Leu376Val Uncertain significance Single submitter
-
KCNA6 p.Leu448Val
Uncertain significance
Single submitter
KCNA6-associated epileptic encephalopathy
-
KCNA6 p.Leu513Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Leu7Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Lys498Arg Uncertain significance Single submitter
- KCNA6 p.Met243Val Uncertain significance Single submitter
-
KCNA6 p.Met431Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Phe353Val Uncertain significance Single submitter
- KCNA6 p.Phe93Leu Uncertain significance Single submitter
-
KCNA6 p.Pro197Ser
Uncertain significance
Single submitter
KCNA6-related neurodevelopmenta disorder
-
KCNA6 p.Pro407Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Pro487Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Pro63Arg Uncertain significance Single submitter
-
KCNA6 p.Ser215Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ser215Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ser249Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Ser283Phe Uncertain significance Single submitter
- KCNA6 p.Thr421Ala Uncertain significance Single submitter
- KCNA6 p.Thr422Met Uncertain significance Single submitter
-
KCNA6 p.Thr527Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Val112Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Val15Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Val280Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Val438Met Uncertain significance Single submitter
-
KCNA6 p.Val454Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Val458Leu Uncertain significance Single submitter
-
KCNA6 p.Asp78Gly
Uncertain significance
No assertion criteria
pyloric stenosis
Predictors split 9
The independent predictors disagree with each other — read with care.
-
KCNA6 p.Arg122Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNA6 p.Arg293Gln Uncertain significance Single submitter
- KCNA6 p.Asp261Glu Uncertain significance Single submitter
-
KCNA6 p.Asp400Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gln333Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gln55Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Gly171Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Pro150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNA6 p.Ser40Arg
Uncertain significance
Single submitter
Inborn genetic diseases
All KCNA6 variants
Pathogenic 1
- p.Val456Leu Single submitter
Likely pathogenic 2
- p.Arg351Cys Single submitter
- p.Val456Asp Single submitter Short philtrum
Conflicting classifications of pathogenicity 1
- p.Thr449Ile Single submitter ⚠
Likely benign 2
- p.Arg490Lys Single submitter Inborn genetic diseases
- p.Pro216Ser Single submitter Inborn genetic diseases
Uncertain significance 76
- p.Asp230His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr100His Multiple submitters Inborn genetic diseases ⚠
- p.Val394Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ala290Asp Single submitter Inborn genetic diseases ⚠
- p.Ala399Pro Single submitter Inborn genetic diseases ⚠
- p.Ala95Val Single submitter Inborn genetic diseases ⚠
- p.Arg122Leu Single submitter Inborn genetic diseases ⚠
- p.Arg16Cys Single submitter Inborn genetic diseases ⚠
- p.Arg174Met Single submitter ⚠
- p.Arg213Pro Single submitter Inborn genetic diseases ⚠
- p.Arg281Pro Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg345Cys Single submitter Inborn genetic diseases ⚠
- p.Arg508Gly Single submitter Inborn genetic diseases ⚠
- p.Arg51His Single submitter Inborn genetic diseases ⚠
- p.Arg81Gly Single submitter Inborn genetic diseases ⚠
- p.Arg90Gln Single submitter Inborn genetic diseases ⚠
- p.Asp230Glu Single submitter Inborn genetic diseases ⚠
- p.Asp261Glu Single submitter ⚠
- p.Asp261His Single submitter ⚠
- p.Asp400Gly Single submitter Inborn genetic diseases ⚠
- p.Asp411Tyr Single submitter ⚠
- p.Cys192Tyr Single submitter ⚠
- p.Gln125Lys Single submitter
- p.Gln333Arg Single submitter Inborn genetic diseases ⚠
- p.Gln474Glu Single submitter ⚠
- p.Gln55Arg Single submitter Inborn genetic diseases ⚠
- p.Glu136Ter Single submitter
- p.Glu41Gln Single submitter Inborn genetic diseases
- p.Gly171Val Single submitter Inborn genetic diseases ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly237Asp Single submitter Inborn genetic diseases ⚠
- p.Gly246Arg Single submitter Inborn genetic diseases ⚠
- p.Gly26Arg Single submitter Inborn genetic diseases ⚠
- p.Gly33Val Single submitter Inborn genetic diseases ⚠
- p.Gly426Arg Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.His236Tyr Single submitter Inborn genetic diseases ⚠
- p.His517Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile116Met Single submitter Inborn genetic diseases
- p.Ile304Leu Single submitter Inborn genetic diseases ⚠
- p.Ile352Thr Single submitter Inborn genetic diseases ⚠
- p.Ile380Asn Single submitter Inborn genetic diseases ⚠
- p.Ile437Thr Single submitter ⚠
- p.Leu376Val Single submitter ⚠
- p.Leu448Val Single submitter KCNA6-associated epileptic encephalopathy ⚠
- p.Leu513Phe Single submitter Inborn genetic diseases ⚠
- p.Leu7Phe Single submitter Inborn genetic diseases ⚠
- p.Lys498Arg Single submitter ⚠
- p.Met243Val Single submitter ⚠
- p.Met431Thr Single submitter Inborn genetic diseases ⚠
- p.Phe353Val Single submitter ⚠
- p.Phe501Leu Single submitter Inborn genetic diseases
- p.Phe93Leu Single submitter ⚠
- p.Pro150Ser Single submitter Inborn genetic diseases ⚠
- p.Pro197Ser Single submitter KCNA6-related neurodevelopmenta disorder ⚠
- p.Pro407Arg Single submitter Inborn genetic diseases ⚠
- p.Pro487Gln Single submitter Inborn genetic diseases ⚠
- p.Pro63Arg Single submitter ⚠
- p.Ser215Ala Single submitter Inborn genetic diseases ⚠
- p.Ser215Phe Single submitter Inborn genetic diseases ⚠
- p.Ser249Phe Single submitter Inborn genetic diseases ⚠
- p.Ser283Phe Single submitter ⚠
- p.Ser40Arg Single submitter Inborn genetic diseases ⚠
- p.Thr260_Phe264del Single submitter
- p.Thr421Ala Single submitter ⚠
- p.Thr422Met Single submitter ⚠
- p.Thr527Met Single submitter Inborn genetic diseases ⚠
- p.Val112Leu Single submitter Inborn genetic diseases ⚠
- p.Val15Asp Single submitter Inborn genetic diseases ⚠
- p.Val179Leu Single submitter Inborn genetic diseases
- p.Val280Leu Single submitter Inborn genetic diseases ⚠
- p.Val438Met Single submitter ⚠
- p.Val454Leu Single submitter Inborn genetic diseases ⚠
- p.Val458Leu Single submitter ⚠
- p.Asp78Gly No assertion criteria pyloric stenosis ⚠