KCNJ3 — 29 ClinVar variants
All ClinVar germline KCNJ3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Benign/Likely benign · 1 Likely benign · 27 Uncertain significance
Full KCNJ3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNJ3 p.Ala276Asp Uncertain significance Single submitter
- KCNJ3 p.Arg229Gly Uncertain significance Single submitter
- KCNJ3 p.Asn487Lys Uncertain significance Single submitter
- KCNJ3 p.Asp319Asn Uncertain significance Single submitter
- KCNJ3 p.Cys388Gly Uncertain significance Single submitter
- KCNJ3 p.Gln35His Uncertain significance Single submitter
- KCNJ3 p.Ile202Val Uncertain significance Single submitter
- KCNJ3 p.Ile372Met Uncertain significance Single submitter
- KCNJ3 p.Leu84Phe Uncertain significance Single submitter
- KCNJ3 p.Met204Leu Uncertain significance Single submitter
- KCNJ3 p.Met288Leu Uncertain significance Single submitter
- KCNJ3 p.Met458Thr Uncertain significance Single submitter
- KCNJ3 p.Met463Lys Uncertain significance Single submitter
- KCNJ3 p.Pro26Ser Uncertain significance Single submitter
- KCNJ3 p.Pro279Ser Uncertain significance Single submitter
- KCNJ3 p.Pro444Leu Uncertain significance Single submitter
- KCNJ3 p.Ser62Gly Uncertain significance Single submitter
- KCNJ3 p.Thr108Ala Uncertain significance Single submitter
- KCNJ3 p.Thr501Lys Uncertain significance Single submitter
- KCNJ3 p.Val104Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- KCNJ3 p.Arg493Ser Uncertain significance Single submitter
- KCNJ3 p.His57Leu Uncertain significance Single submitter
- KCNJ3 p.Phe280Ile Uncertain significance Single submitter
- KCNJ3 p.Ser343Cys Uncertain significance Single submitter
- KCNJ3 p.Val201Ala Uncertain significance Single submitter
- KCNJ3 p.Val273Met Uncertain significance Single submitter
All KCNJ3 variants
Benign/Likely benign 1
- p.Asp498= Multiple submitters
Likely benign 1
- p.Thr92= Single submitter
Uncertain significance 27
- p.Ala276Asp Single submitter ⚠
- p.Arg229Gly Single submitter ⚠
- p.Arg493Ser Single submitter ⚠
- p.Asn487Lys Single submitter ⚠
- p.Asp319Asn Single submitter ⚠
- p.Cys388Gly Single submitter ⚠
- p.Gln35His Single submitter ⚠
- p.His57Leu Single submitter ⚠
- p.Ile202Val Single submitter ⚠
- p.Ile372Met Single submitter ⚠
- p.Leu84Phe Single submitter ⚠
- p.Met204Leu Single submitter ⚠
- p.Met288Leu Single submitter ⚠
- p.Met458Thr Single submitter ⚠
- p.Met463Lys Single submitter ⚠
- p.Phe280Ile Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Ser343Cys Single submitter ⚠
- p.Ser62Gly Single submitter ⚠
- p.Thr108Ala Single submitter ⚠
- p.Thr317Ile Single submitter
- p.Thr501Lys Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val273Met Single submitter ⚠