KCNN1 — 75 ClinVar variants
All ClinVar germline KCNN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
2 Benign · 2 Likely benign · 71 Uncertain significance
Full KCNN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNN1 p.Ala151Thr Uncertain significance Single submitter
- KCNN1 p.Ala20Thr Uncertain significance Single submitter
- KCNN1 p.Ala218Val Uncertain significance Single submitter
- KCNN1 p.Ala418Ser Uncertain significance Single submitter
- KCNN1 p.Ala418Val Uncertain significance Single submitter
- KCNN1 p.Ala47Gly Uncertain significance Single submitter
- KCNN1 p.Ala491Val Uncertain significance Single submitter
- KCNN1 p.Ala504Ser Uncertain significance Single submitter
- KCNN1 p.Ala527Val Uncertain significance Single submitter
- KCNN1 p.Arg12Trp Uncertain significance Single submitter
- KCNN1 p.Arg185His Uncertain significance Single submitter
- KCNN1 p.Arg302Cys Uncertain significance Single submitter
- KCNN1 p.Arg367Trp Uncertain significance Single submitter
- KCNN1 p.Arg508Cys Uncertain significance Single submitter
- KCNN1 p.Arg528Gln Uncertain significance Single submitter
- KCNN1 p.Arg533Gln Uncertain significance Single submitter
- KCNN1 p.Arg533Trp Uncertain significance Single submitter
- KCNN1 p.Arg60Gln Uncertain significance Single submitter
- KCNN1 p.Asp227Asn Uncertain significance Single submitter
- KCNN1 p.Asp449Asn Uncertain significance Single submitter
- KCNN1 p.Asp456Asn Uncertain significance Single submitter
- KCNN1 p.Glu477Val Uncertain significance Single submitter
- KCNN1 p.Gly22Arg Uncertain significance Single submitter
- KCNN1 p.Gly345Val Uncertain significance Single submitter
- KCNN1 p.Gly521Ser Uncertain significance Single submitter
- KCNN1 p.Gly57Ser Uncertain significance Single submitter
- KCNN1 p.Gly61Glu Uncertain significance Single submitter
- KCNN1 p.Gly78Ser Uncertain significance Single submitter
- KCNN1 p.Ile324Val Uncertain significance Single submitter
- KCNN1 p.Ile507Val Uncertain significance Single submitter
- KCNN1 p.Met278Thr Uncertain significance Single submitter
- KCNN1 p.Pro33Ser Uncertain significance Single submitter
- KCNN1 p.Pro34Gln Uncertain significance Single submitter
- KCNN1 p.Pro34Leu Uncertain significance Single submitter
- KCNN1 p.Pro36Ser Uncertain significance Single submitter
- KCNN1 p.Pro37Leu Uncertain significance Single submitter
- KCNN1 p.Pro40Leu Uncertain significance Single submitter
- KCNN1 p.Pro511Leu Uncertain significance Single submitter
- KCNN1 p.Pro513Leu Uncertain significance Single submitter
- KCNN1 p.Pro516Leu Uncertain significance Single submitter
- KCNN1 p.Pro522Arg Uncertain significance Single submitter
- KCNN1 p.Pro86Ser Uncertain significance Single submitter
- KCNN1 p.Ser39Asn Uncertain significance Single submitter
- KCNN1 p.Ser540Leu Uncertain significance Single submitter
- KCNN1 p.Ser58Gly Uncertain significance Single submitter
- KCNN1 p.Ser5Thr Uncertain significance Single submitter
- KCNN1 p.Thr150Ala Uncertain significance Single submitter
- KCNN1 p.Thr535Met Uncertain significance Single submitter
- KCNN1 p.Trp534Arg Uncertain significance Single submitter
- KCNN1 p.Tyr160Cys Uncertain significance Single submitter
- KCNN1 p.Val10Met Uncertain significance Single submitter
- KCNN1 p.Val119Ile Uncertain significance Single submitter
- KCNN1 p.Val131Leu Uncertain significance Single submitter
- KCNN1 p.Val157Ile Uncertain significance Single submitter
- KCNN1 p.Val378Met Uncertain significance Single submitter
- KCNN1 p.Val463Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- KCNN1 p.Ala162Thr Uncertain significance Single submitter
- KCNN1 p.Ala98Val Uncertain significance Single submitter
- KCNN1 p.Arg105Cys Uncertain significance Single submitter
- KCNN1 p.Arg390Gln Uncertain significance Single submitter
- KCNN1 p.Arg410Ser Uncertain significance Single submitter
- KCNN1 p.Arg481His Uncertain significance Single submitter
- KCNN1 p.Asp466Asn Uncertain significance Single submitter
- KCNN1 p.Glu135Lys Uncertain significance Single submitter
- KCNN1 p.Glu73Lys Uncertain significance Single submitter
- KCNN1 p.Leu360Phe Uncertain significance Single submitter
- KCNN1 p.Ser315Arg Uncertain significance Single submitter
- KCNN1 p.Val119Phe Uncertain significance Single submitter
- KCNN1 p.Val303Ile Uncertain significance Single submitter
All KCNN1 variants
Benign 2
- p.Ala30= Multiple submitters
- c.917+8C>T Single submitter
Likely benign 2
- p.Ala255= Single submitter
- p.Arg53Gln Single submitter
Uncertain significance 71
- p.Ala151Thr Single submitter ⚠
- p.Ala162Thr Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala418Ser Single submitter ⚠
- p.Ala418Val Single submitter ⚠
- p.Ala47Gly Single submitter ⚠
- p.Ala491Val Single submitter ⚠
- p.Ala504Ser Single submitter ⚠
- p.Ala527Val Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg367Trp Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg410Ser Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg508Cys Single submitter ⚠
- p.Arg528Gln Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Arg533Trp Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Asp227Asn Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp456Asn Single submitter ⚠
- p.Asp466Asn Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu477Val Single submitter ⚠
- p.Glu73Lys Single submitter ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly345Val Single submitter ⚠
- p.Gly521Ser Single submitter ⚠
- p.Gly57Ser Single submitter ⚠
- p.Gly61Glu Single submitter ⚠
- p.Gly78Ser Single submitter ⚠
- p.His408Leu Single submitter
- p.Ile324Val Single submitter ⚠
- p.Ile507Val Single submitter ⚠
- p.Leu360Phe Single submitter ⚠
- p.Met278Thr Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro34Gln Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Pro511Leu Single submitter ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro522Arg Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser231Cys Single submitter
- p.Ser315Arg Single submitter ⚠
- p.Ser39Asn Single submitter ⚠
- p.Ser540Leu Single submitter ⚠
- p.Ser58Gly Single submitter ⚠
- p.Ser5Thr Single submitter ⚠
- p.Thr150Ala Single submitter ⚠
- p.Thr535Met Single submitter ⚠
- p.Trp534Arg Single submitter ⚠
- p.Tyr160Cys Single submitter ⚠
- p.Val10Met Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val119Phe Single submitter ⚠
- p.Val131Leu Single submitter ⚠
- p.Val157Ile Single submitter ⚠
- p.Val303Ile Single submitter ⚠
- p.Val378Met Single submitter ⚠
- p.Val463Ile Single submitter ⚠