KCNJ6 — 138 ClinVar variants
All ClinVar germline KCNJ6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 12 Benign · 43 Likely benign · 76 Uncertain significance
Full KCNJ6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCNJ6 p.Asp15Asn
Conflicting
Single submitter
KCNJ6-related disorder
-
KCNJ6 p.Pro276Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNJ6 p.Arg158Trp Uncertain significance Multiple submitters
-
KCNJ6 p.Arg48Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNJ6 p.Glu405Lys Uncertain significance Multiple submitters
-
KCNJ6 p.Gly119Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNJ6 p.His392Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNJ6 p.His43Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNJ6 p.Ile124Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNJ6 p.Val25Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNJ6 p.Ala26Ser Uncertain significance Single submitter
- KCNJ6 p.Ala36Val Uncertain significance Single submitter
-
KCNJ6 p.Ala393Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Ala415Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Arg118Gln Uncertain significance Single submitter
- KCNJ6 p.Arg118Leu Uncertain significance Single submitter
- KCNJ6 p.Arg223Trp Uncertain significance Single submitter
-
KCNJ6 p.Arg335Trp
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
- KCNJ6 p.Arg376Ser Uncertain significance Single submitter
-
KCNJ6 p.Asp18Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Asp350Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Asp47Asn Uncertain significance Single submitter
- KCNJ6 p.Cys164Phe Uncertain significance Single submitter
- KCNJ6 p.Gln195Pro Uncertain significance Single submitter
-
KCNJ6 p.Gln35Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Glu369Lys Uncertain significance Single submitter
-
KCNJ6 p.Glu378Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Glu406Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.His43Arg Uncertain significance Single submitter
-
KCNJ6 p.Ile110Asn
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
-
KCNJ6 p.Ile124Lys
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
-
KCNJ6 p.Ile168Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Ile180Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Lys299Arg Uncertain significance Single submitter
-
KCNJ6 p.Lys50Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Met8Val
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
-
KCNJ6 p.Pro165Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Ser324Pro Uncertain significance Single submitter
- KCNJ6 p.Ser375Arg Uncertain significance Single submitter
- KCNJ6 p.Thr152Ile Uncertain significance Single submitter
- KCNJ6 p.Thr258Met Uncertain significance Single submitter
- KCNJ6 p.Thr341Ser Uncertain significance Single submitter
-
KCNJ6 p.Trp129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Trp290Arg
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
- KCNJ6 p.Trp89Arg Uncertain significance Single submitter
- KCNJ6 p.Tyr116Phe Uncertain significance Single submitter
- KCNJ6 p.Val133Asp Uncertain significance Single submitter
- KCNJ6 p.Val21Ile Uncertain significance Single submitter
-
KCNJ6 p.Val25Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Val349Leu
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
-
KCNJ6 p.Val385Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Met109Ile
Uncertain significance
No assertion criteria
KCNJ6-related disorder
Predictors split 11
The independent predictors disagree with each other — read with care.
- KCNJ6 p.Leu381Pro Uncertain significance Multiple submitters
- KCNJ6 p.Arg270His Uncertain significance Single submitter
-
KCNJ6 p.Asn284His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNJ6 p.Asn64Ser
Uncertain significance
Single submitter
Keppen-Lubinsky syndrome
-
KCNJ6 p.Gln246His
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNJ6 p.Glu300Lys Uncertain significance Single submitter
- KCNJ6 p.Glu372Lys Uncertain significance Single submitter
-
KCNJ6 p.Leu404Pro
Conflicting
Single submitter
Inborn genetic diseases
- KCNJ6 p.Thr103Ala Uncertain significance Single submitter
- KCNJ6 p.Thr397Pro Uncertain significance Single submitter
- KCNJ6 p.Tyr116Cys Uncertain significance Single submitter
All KCNJ6 variants
Pathogenic 1
- p.Thr152del No assertion criteria Keppen-Lubinsky syndrome
Likely pathogenic 3
- p.Gly154Ser Multiple submitters KCNJ6-related disorder
- p.Gly154Arg Single submitter Keppen-Lubinsky syndrome
- p.Leu171Arg Single submitter Keppen-Lubinsky syndrome
Conflicting classifications of pathogenicity 3
- p.Asp15Asn Single submitter KCNJ6-related disorder ⚠
- p.Leu404Pro Single submitter Inborn genetic diseases ⚠
- p.Pro276Leu Single submitter Inborn genetic diseases ⚠
Benign 12
- c.25+103T>C Multiple submitters
- c.25+275T>C Multiple submitters
- c.26-41C>G Multiple submitters
- c.947-79C>T Multiple submitters
- c.-27-9C>T Multiple submitters
- c.*34C>G Multiple submitters
- p.Asp344= Multiple submitters Keppen-Lubinsky syndrome
- p.Pro165= Multiple submitters Keppen-Lubinsky syndrome
- c.946+17C>T Single submitter
- p.Gln391= Single submitter
- p.Ile114= Single submitter
- p.Thr266= Single submitter
Likely benign 43
- c.26-65G>A Multiple submitters
- p.Ala371= Multiple submitters
- p.Arg46= Multiple submitters
- p.Arg48= Multiple submitters
- p.Asn69= Multiple submitters
- p.Asp60= Multiple submitters
- p.Glu329= Multiple submitters
- p.Gly187= Multiple submitters
- p.Gly250= Multiple submitters
- p.His28= Multiple submitters
- p.Ile53Val Multiple submitters Inborn genetic diseases
- p.Leu94= Multiple submitters
- p.Pro30= Multiple submitters
- p.Tyr347= Multiple submitters
- c.25+7A>G Single submitter
- c.25+8G>A Single submitter
- c.26-19_26-17del Single submitter
- c.946+8G>A Single submitter
- c.947-16A>T Single submitter
- c.947-7T>C Single submitter
- p.Ala374= Single submitter
- p.Arg223= Single submitter
- p.Arg51= Single submitter
- p.Arg71= Single submitter
- p.Asn10= Single submitter
- p.Asn137= Single submitter
- p.Gln174= Single submitter
- p.Gly138= Single submitter
- p.Gly14= Single submitter
- p.Phe81= Single submitter
- p.Pro276= Single submitter
- p.Ser248= Single submitter
- p.Ser275= Single submitter
- p.Thr134= Single submitter
- p.Thr337= Single submitter
- p.Thr78= Single submitter
- p.Tyr116= Single submitter
- p.Tyr56= Single submitter
- p.Val191= Single submitter
- p.Val21= Single submitter
- p.Val312= Single submitter
- p.Val414= Single submitter
- p.Ser230= No assertion criteria KCNJ6-related disorder
Uncertain significance 76
- p.Arg158Trp Multiple submitters ⚠
- p.Arg48Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu405Lys Multiple submitters ⚠
- p.Gly119Val Multiple submitters Inborn genetic diseases ⚠
- p.His392Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His43Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile124Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu381Pro Multiple submitters ⚠
- p.Val25Leu Multiple submitters Inborn genetic diseases ⚠
- c.25+11980A>G Single submitter Keppen-Lubinsky syndrome
- c.25+5G>A Single submitter
- p.Ala26Ser Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala377Lys Single submitter
- p.Ala393Ser Single submitter Inborn genetic diseases ⚠
- p.Ala415Thr Single submitter Inborn genetic diseases ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Leu Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Arg270His Single submitter ⚠
- p.Arg322Ter Single submitter
- p.Arg335Trp Single submitter Keppen-Lubinsky syndrome ⚠
- p.Arg376Ser Single submitter ⚠
- p.Asn284His Single submitter Inborn genetic diseases ⚠
- p.Asn64Ser Single submitter Keppen-Lubinsky syndrome ⚠
- p.Asp18Asn Single submitter Inborn genetic diseases ⚠
- p.Asp350Ala Single submitter Inborn genetic diseases ⚠
- p.Asp47Asn Single submitter ⚠
- p.Asp79delinsThrTer Single submitter
- p.Cys164Phe Single submitter ⚠
- p.Gln195Pro Single submitter ⚠
- p.Gln246His Single submitter Inborn genetic diseases ⚠
- p.Gln29Ter Single submitter
- p.Gln35Lys Single submitter Inborn genetic diseases ⚠
- p.Glu234fs Single submitter
- p.Glu300Lys Single submitter ⚠
- p.Glu369Lys Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu378Lys Single submitter Inborn genetic diseases ⚠
- p.Glu406Gln Single submitter Inborn genetic diseases ⚠
- p.Gly119Ter Single submitter
- p.Gly61Ter Single submitter
- p.His43Arg Single submitter ⚠
- p.Ile110Asn Single submitter Keppen-Lubinsky syndrome ⚠
- p.Ile124Lys Single submitter Keppen-Lubinsky syndrome ⚠
- p.Ile168Val Single submitter Inborn genetic diseases ⚠
- p.Ile180Val Single submitter Inborn genetic diseases ⚠
- p.Ile53Thr Single submitter Inborn genetic diseases
- p.Lys299Arg Single submitter ⚠
- p.Lys50Gln Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter
- p.Met8Val Single submitter Keppen-Lubinsky syndrome ⚠
- p.Pro165Leu Single submitter Inborn genetic diseases ⚠
- p.Ser324Pro Single submitter ⚠
- p.Ser375Arg Single submitter ⚠
- p.Thr101fs Single submitter
- p.Thr103Ala Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr258Met Single submitter ⚠
- p.Thr266Met Single submitter
- p.Thr341Ser Single submitter ⚠
- p.Thr397Pro Single submitter ⚠
- p.Trp129Ser Single submitter Inborn genetic diseases ⚠
- p.Trp290Arg Single submitter Keppen-Lubinsky syndrome ⚠
- p.Trp89Arg Single submitter ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr116Phe Single submitter ⚠
- p.Tyr325Ter Single submitter
- p.Val133Asp Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val25dup Single submitter
- p.Val25Met Single submitter Inborn genetic diseases ⚠
- p.Val349Leu Single submitter Keppen-Lubinsky syndrome ⚠
- p.Val385Leu Single submitter Inborn genetic diseases ⚠
- c.947-6762_947-6761insGTTTGTTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGCCGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCGGGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTACAGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCACCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCTAACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC No assertion criteria schizophrenia
- p.Met109Ile No assertion criteria KCNJ6-related disorder ⚠