KCNB2 — 117 ClinVar variants

All ClinVar germline KCNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 8 Benign · 13 Likely benign · 93 Uncertain significance

Full KCNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

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.

KCNB2 p.Gly106Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 79

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

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

All KCNB2 variants

Pathogenic 1

p.Arg304Gln Single submitter neurodevelopmental syndrome with epilepsy and autism

Likely pathogenic 1

p.Thr381Ala Multiple submitters KCNB2-related disorder

Conflicting classifications of pathogenicity 1

p.Gly106Arg Single submitter ⚠

Benign 8

c.580-31A>T Multiple submitters
c.-93-154A>G Multiple submitters
p.Glu657Gly Multiple submitters
p.Pro57= Multiple submitters
p.Ser625= Multiple submitters
p.Thr52= Multiple submitters
p.Val871= Multiple submitters
p.Ala726= No assertion criteria KCNB2-related disorder

Likely benign 13

p.Ala482Thr Single submitter
p.Ala589= Single submitter
p.Gln684Arg Single submitter
p.Ile807Met Single submitter
p.Phe458= Single submitter
p.Pro24Ser Single submitter ⚠
p.Thr640Arg Single submitter
p.Thr666Met Single submitter
p.Thr748Ile Single submitter
p.Gly43= No assertion criteria KCNB2-related disorder
p.Gly648= No assertion criteria KCNB2-related disorder
p.Ile27= No assertion criteria KCNB2-related disorder
p.Pro856Leu No assertion criteria KCNB2-related disorder

Uncertain significance 93

p.Ser528Pro Multiple submitters ⚠
p.Ala191Val Single submitter ⚠
p.Ala356Ser Single submitter ⚠
p.Ala362Thr Single submitter ⚠
p.Ala472Ser Single submitter ⚠
p.Ala775Val Single submitter ⚠
p.Arg15Lys Single submitter ⚠
p.Arg307Cys Single submitter ⚠
p.Arg330Gln Single submitter ⚠
p.Arg330Trp Single submitter KCNB2-associated neurodevelopmental disorder ⚠
p.Arg436Met Single submitter KCNB2-associated neurodevelopmental disorder ⚠
p.Arg713Lys Single submitter ⚠
p.Arg907His Single submitter ⚠
p.Arg907Ser Single submitter ⚠
p.Asn257Thr Single submitter ⚠
p.Asn287Ser Single submitter ⚠
p.Asn83His Single submitter ⚠
p.Asn85Ser Single submitter
p.Asp483Asn Single submitter ⚠
p.Asp636Tyr Single submitter ⚠
p.Asp698Asn Single submitter ⚠
p.Asp828Gly Single submitter ⚠
p.Cys171Tyr Single submitter ⚠
p.Cys33Trp Single submitter
p.Cys402Tyr Single submitter ⚠
p.Cys581Tyr Single submitter ⚠
p.Cys685Tyr Single submitter ⚠
p.Gln551Glu Single submitter ⚠
p.Gln644Arg Single submitter ⚠
p.Gln644Glu Single submitter ⚠
p.Glu122Gly Single submitter ⚠
p.Glu134Gln Single submitter ⚠
p.Glu431Asp Single submitter ⚠
p.Glu441Gln Single submitter ⚠
p.Glu573Gly Single submitter ⚠
p.Glu641Lys Single submitter ⚠
p.Glu817Val Single submitter ⚠
p.Glu847Gln Single submitter ⚠
p.Glu86Lys Single submitter ⚠
p.Gly345Glu Single submitter ⚠
p.Gly648Cys Single submitter ⚠
p.Gly648Val Single submitter ⚠
p.Gly724Ser Single submitter ⚠
p.Gly764Val Single submitter ⚠
p.Gly779Ter Single submitter
p.Gly820Glu Single submitter ⚠
p.Gly852Ser Single submitter ⚠
p.Gly902Ala Single submitter ⚠
p.Gly902Arg Single submitter ⚠
p.His521Gln Single submitter ⚠
p.His688Asn Single submitter ⚠
p.His70Arg Single submitter ⚠
p.His70Tyr Single submitter ⚠
p.Ile28Phe Single submitter
p.Ile434Asn Single submitter ⚠
p.Ile674Leu Single submitter ⚠
p.Ile674Val Single submitter ⚠
p.Leu464Pro Single submitter ⚠
p.Leu56Met Single submitter ⚠
p.Leu654Pro Single submitter ⚠
p.Leu816Ser Single submitter ⚠
p.Lys145Gln Single submitter ⚠
p.Lys288Arg Single submitter KCNB2-associated neurodevelopmental disorder ⚠
p.Phe458Leu Single submitter ⚠
p.Pro276Leu Single submitter ⚠
p.Pro532Ser Single submitter ⚠
p.Pro624Ser Single submitter ⚠
p.Pro650Leu Single submitter ⚠
p.Pro671Ser Single submitter ⚠
p.Pro700Ser Single submitter ⚠
p.Pro700Thr Single submitter ⚠
p.Pro776Leu Single submitter ⚠
p.Pro786Ala Single submitter ⚠
p.Pro892Ala Single submitter ⚠
p.Pro892Ser Single submitter ⚠
p.Pro905Ser Single submitter ⚠
p.Ser289Arg Single submitter ⚠
p.Ser30Arg Single submitter ⚠
p.Ser488Trp Single submitter
p.Ser554Pro Single submitter ⚠
p.Ser830Arg Single submitter ⚠
p.Ser830Gly Single submitter ⚠
p.Thr17Ile Single submitter ⚠
p.Thr207Asn Single submitter ⚠
p.Thr52Pro Single submitter ⚠
p.Thr607Ile Single submitter ⚠
p.Thr616Arg Single submitter ⚠
p.Thr635Ala Single submitter ⚠
p.Thr675Ile Single submitter ⚠
p.Thr69Ile Single submitter ⚠
p.Thr809Asn Single submitter ⚠
p.Thr901Ala Single submitter ⚠
p.Val588Met Single submitter ⚠