KCNK9 — 87 ClinVar variants
All ClinVar germline KCNK9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 6 Benign · 17 Likely benign · 55 Uncertain significance
Full KCNK9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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.
-
KCNK9 p.Arg131Cys
Conflicting
Single submitter
Birk-Barel syndrome
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KCNK9 p.Ile200Thr
Uncertain significance
Multiple submitters
Birk-Barel syndrome
- KCNK9 p.Tyr191Cys Uncertain significance Multiple submitters
- KCNK9 p.Ala175Val Uncertain significance Single submitter
- KCNK9 p.Ala265Ser Uncertain significance Single submitter
-
KCNK9 p.Ala288Val
Uncertain significance
Single submitter
KCNK9-related disorder
-
KCNK9 p.Arg131Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK9 p.Arg283Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK9 p.Arg310Pro Uncertain significance Single submitter
- KCNK9 p.Arg36His Uncertain significance Single submitter
-
KCNK9 p.Arg370His
Uncertain significance
Single submitter
Birk-Barel syndrome
-
KCNK9 p.Arg60Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK9 p.Asp292Ala Uncertain significance Single submitter
- KCNK9 p.Cys147Arg Uncertain significance Single submitter
-
KCNK9 p.Gln305Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK9 p.Gly117Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK9 p.Gly169Arg Uncertain significance Single submitter
- KCNK9 p.Gly203Arg Uncertain significance Single submitter
- KCNK9 p.Gly357Val Uncertain significance Single submitter
-
KCNK9 p.His325Asn
Uncertain significance
Single submitter
Birk-Barel syndrome
- KCNK9 p.His328Gln Uncertain significance Single submitter
- KCNK9 p.Leu122Val Uncertain significance Single submitter
- KCNK9 p.Leu29Arg Uncertain significance Single submitter
- KCNK9 p.Lys333Asn Uncertain significance Single submitter
- KCNK9 p.Met111Lys Uncertain significance Single submitter
- KCNK9 p.Met156Val Uncertain significance Single submitter
- KCNK9 p.Met249Thr Uncertain significance Single submitter
- KCNK9 p.Pro119Leu Uncertain significance Single submitter
- KCNK9 p.Ser155Cys Uncertain significance Single submitter
- KCNK9 p.Ser352Arg Uncertain significance Single submitter
-
KCNK9 p.Ser352Ile
Uncertain significance
Single submitter
Birk-Barel syndrome
- KCNK9 p.Thr170Met Uncertain significance Single submitter
- KCNK9 p.Trp184Gly Uncertain significance Single submitter
- KCNK9 p.Tyr138His Uncertain significance Single submitter
- KCNK9 p.Tyr326Cys Uncertain significance Single submitter
- KCNK9 p.Tyr332His Uncertain significance Single submitter
-
KCNK9 p.Leu197Phe
Uncertain significance
No assertion criteria
KCNK9-related disorder
Predictors split 10
The independent predictors disagree with each other — read with care.
-
KCNK9 p.Arg255Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KCNK9 p.Arg137Gly Uncertain significance Single submitter
- KCNK9 p.Arg256Trp Uncertain significance Single submitter
- KCNK9 p.Asn5Ser Uncertain significance Single submitter
- KCNK9 p.Asp27Ala Uncertain significance Single submitter
-
KCNK9 p.Gly75Ser
Uncertain significance
Single submitter
Birk-Barel syndrome
-
KCNK9 p.Leu9Val
Conflicting
Single submitter
Birk-Barel syndrome
- KCNK9 p.Lys79Glu Uncertain significance Single submitter
-
KCNK9 p.Thr17Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK9 p.Met159Ile
Likely pathogenic
No assertion criteria
Birk-Barel syndrome
All KCNK9 variants
Pathogenic 1
- p.Arg131Ser Single submitter
Pathogenic/Likely pathogenic 1
- p.Arg131His Multiple submitters Birk-Barel syndrome
Likely pathogenic 5
- p.Ala237Asp Single submitter Birk-Barel syndrome
- p.Gly236Arg Single submitter Birk-Barel syndrome
- p.Leu239Pro Single submitter Birk-Barel syndrome
- p.Thr199Ala Single submitter Birk-Barel syndrome
- p.Met159Ile No assertion criteria Birk-Barel syndrome ⚠
Conflicting classifications of pathogenicity 2
- p.Arg131Cys Single submitter Birk-Barel syndrome ⚠
- p.Leu9Val Single submitter Birk-Barel syndrome ⚠
Benign 6
Likely benign 17
- p.Ile54= Multiple submitters
- p.Thr300= Multiple submitters
- p.Tyr220= Multiple submitters
- p.Ala176= Single submitter
- p.Ala189Thr Single submitter
- p.Arg268His Single submitter
- p.Asp27= Single submitter
- p.Gly75= Single submitter
- p.Gly82= Single submitter
- p.Ile173= Single submitter
- p.Ser373= Single submitter
- p.Thr170= Single submitter
- p.Thr233= Single submitter
- p.Tyr326= Single submitter
- p.Val90= Single submitter
- p.Asp153= No assertion criteria KCNK9-related disorder
- p.Phe194= No assertion criteria KCNK9-related disorder
Uncertain significance 55
- p.Arg255Trp Multiple submitters Inborn genetic diseases ⚠
- p.Ile200Thr Multiple submitters Birk-Barel syndrome ⚠
- p.Pro284_Arg285insSerArgPro Multiple submitters Birk-Barel syndrome
- p.Ser311Ter Multiple submitters Birk-Barel syndrome
- p.Tyr191Cys Multiple submitters ⚠
- p.Ala105Val Single submitter Birk-Barel syndrome
- p.Ala175Val Single submitter ⚠
- p.Ala237fs Single submitter
- p.Ala265Ser Single submitter ⚠
- p.Ala288Val Single submitter KCNK9-related disorder ⚠
- p.Arg131Pro Single submitter Inborn genetic diseases ⚠
- p.Arg137Gly Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg283Trp Single submitter Inborn genetic diseases ⚠
- p.Arg310Pro Single submitter ⚠
- p.Arg36His Single submitter ⚠
- p.Arg370His Single submitter Birk-Barel syndrome ⚠
- p.Arg60Gln Single submitter Inborn genetic diseases ⚠
- p.Asn5Ser Single submitter ⚠
- p.Asp27Ala Single submitter ⚠
- p.Asp292Ala Single submitter ⚠
- p.Cys147Arg Single submitter ⚠
- p.Gln305Arg Single submitter Inborn genetic diseases ⚠
- p.Glu57Leu Single submitter
- p.Gly117Val Single submitter Inborn genetic diseases ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
- p.Gly357Val Single submitter ⚠
- p.Gly75Ser Single submitter Birk-Barel syndrome ⚠
- p.His325Asn Single submitter Birk-Barel syndrome ⚠
- p.His328Gln Single submitter ⚠
- p.Leu122Val Single submitter ⚠
- p.Leu29Arg Single submitter ⚠
- p.Lys107Ter Single submitter
- p.Lys333Asn Single submitter ⚠
- p.Lys369Ter Single submitter
- p.Lys79Glu Single submitter ⚠
- p.Met111Lys Single submitter ⚠
- p.Met156Thr Single submitter Birk-Barel syndrome
- p.Met156Val Single submitter ⚠
- p.Met249Thr Single submitter ⚠
- p.Phe135del Single submitter
- p.Pro119Leu Single submitter ⚠
- p.Ser155Cys Single submitter ⚠
- p.Ser352Arg Single submitter ⚠
- p.Ser352Ile Single submitter Birk-Barel syndrome ⚠
- p.Thr170Met Single submitter ⚠
- p.Thr17Asn Single submitter Inborn genetic diseases ⚠
- p.Trp184Gly Single submitter ⚠
- p.Trp184Ter Single submitter
- p.Tyr138His Single submitter ⚠
- p.Tyr326Cys Single submitter ⚠
- p.Tyr332His Single submitter ⚠
- p.Tyr52Ter Single submitter
- p.Leu197Phe No assertion criteria KCNK9-related disorder ⚠