KCNJ4 — 43 ClinVar variants
All ClinVar germline KCNJ4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
6 Likely pathogenic · 2 Benign · 1 Likely benign · 34 Uncertain significance
Full KCNJ4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNJ4 p.Ala101Val Uncertain significance Single submitter
- KCNJ4 p.Ala363Pro Uncertain significance Single submitter
- KCNJ4 p.Ala391Thr Uncertain significance Single submitter
- KCNJ4 p.Ala394Val Uncertain significance Single submitter
- KCNJ4 p.Ala395Val Uncertain significance Single submitter
- KCNJ4 p.Ala396Thr Uncertain significance Single submitter
- KCNJ4 p.Ala396Val Uncertain significance Single submitter
- KCNJ4 p.Ala411Val Uncertain significance Single submitter
- KCNJ4 p.Ala96Val Uncertain significance Single submitter
- KCNJ4 p.Arg140Gln Uncertain significance Single submitter
- KCNJ4 p.Arg15Trp Uncertain significance Single submitter
- KCNJ4 p.Arg415Gln Uncertain significance Single submitter
- KCNJ4 p.Arg415Gly Uncertain significance Single submitter
- KCNJ4 p.Arg54Cys Uncertain significance Single submitter
- KCNJ4 p.Cys347Tyr Uncertain significance Single submitter
- KCNJ4 p.Glu389Lys Uncertain significance Single submitter
- KCNJ4 p.Glu409Lys Uncertain significance Single submitter
- KCNJ4 p.Glu410Gly Uncertain significance Single submitter
- KCNJ4 p.Gly104Ser Uncertain significance Single submitter
- KCNJ4 p.Ile259Val Uncertain significance Single submitter
- KCNJ4 p.Lys408Asn Uncertain significance Single submitter
- KCNJ4 p.Met380Val Uncertain significance Single submitter
- KCNJ4 p.Ser356Thr Uncertain significance Single submitter
- KCNJ4 p.Val109Met Uncertain significance Single submitter
- KCNJ4 p.Val162Ile Uncertain significance Single submitter
- KCNJ4 p.Val195Leu Uncertain significance Single submitter
- KCNJ4 p.Val219Met Uncertain significance Single submitter
- KCNJ4 p.Val288Ala Uncertain significance Single submitter
- KCNJ4 p.Val321Glu Uncertain significance Single submitter
- KCNJ4 p.Val93Met Uncertain significance Single submitter
-
KCNJ4 p.Arg196Cys
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 5
The independent predictors disagree with each other — read with care.
- KCNJ4 p.Asp238Asn Uncertain significance Single submitter
- KCNJ4 p.Ile289Phe Uncertain significance Single submitter
-
KCNJ4 p.Met299Thr
Likely pathogenic
Single submitter
KCNJ4-Related Neurodevelopmental Disorder
- KCNJ4 p.Phe323Leu Uncertain significance Single submitter
-
KCNJ4 p.Phe32Leu
Likely pathogenic
Single submitter
KCNJ4-Related Neurodevelopmental Disorder
All KCNJ4 variants
Likely pathogenic 6
- p.Arg181Gln Single submitter KCNJ4-Related Neurodevelopmental Disorder
- p.Arg205His Single submitter KCNJ4-Related Neurodevelopmental Disorder
- p.Glu291Gly Single submitter KCNJ4-Related Neurodevelopmental Disorder
- p.Met299Thr Single submitter KCNJ4-Related Neurodevelopmental Disorder ⚠
- p.Phe32Leu Single submitter KCNJ4-Related Neurodevelopmental Disorder ⚠
- p.Pro147Leu Single submitter KCNJ4-Related Neurodevelopmental Disorder
Likely benign 1
- p.His84= Single submitter
Uncertain significance 34
- p.Ala101Val Single submitter ⚠
- p.Ala363Pro Single submitter ⚠
- p.Ala391Thr Single submitter ⚠
- p.Ala394Val Single submitter ⚠
- p.Ala395Val Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala411Val Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg15Trp Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg415Gly Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Asp238Asn Single submitter ⚠
- p.Cys347Tyr Single submitter ⚠
- p.Glu389Lys Single submitter ⚠
- p.Glu409Lys Single submitter ⚠
- p.Glu410Gly Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile289Phe Single submitter ⚠
- p.Lys408Asn Single submitter ⚠
- p.Met380Val Single submitter ⚠
- p.Phe323Leu Single submitter ⚠
- p.Ser356Thr Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val195Leu Single submitter ⚠
- p.Val219Met Single submitter ⚠
- p.Val288Ala Single submitter ⚠
- p.Val321Glu Single submitter ⚠
- p.Val93Met Single submitter ⚠
- p.Arg196Cys No assertion criteria prostate cancer ⚠