KCNK3 — 283 ClinVar variants
All ClinVar germline KCNK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 162 flagged for review →
6 Pathogenic · 3 Likely pathogenic · 5 Conflicting · 5 Benign · 2 Benign/Likely benign · 92 Likely benign · 170 Uncertain significance
Full KCNK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 162
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCNK3 p.Ala366Val
Conflicting
Single submitter
Inborn genetic diseases
-
KCNK3 p.Arg318His
Conflicting
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gly97Arg
Conflicting
No assertion criteria
KCNK3-related disorder
Predictors lean, ClinVar uncertain 120
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KCNK3 p.Ala152Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala285Thr
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala291Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Arg131Pro
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg331Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Arg359Leu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg68Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu130Gly
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly268Arg
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly275Ala
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly276Asp
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly276Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly294Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Gly350Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly365Arg
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly365Glu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly58Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile325Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Met388Val
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser179Phe
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser278Arg
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser278Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Thr282Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Thr383Ala
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Tyr205Phe
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala157Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala213Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Ala237Thr Uncertain significance Single submitter
-
KCNK3 p.Ala251Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala262Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala262Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala270Gly
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala270Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala285Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala301Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala50Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala50Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala87Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK3 p.Arg131His Uncertain significance Single submitter
-
KCNK3 p.Arg142His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg150Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Arg151Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg151His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg245His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Arg352Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg359Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Arg385Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg390His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg49Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg51Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg64Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK3 p.Arg7Leu Uncertain significance Single submitter
-
KCNK3 p.Asn267Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Asp153Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Asp204Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Asp337Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Asp355His Uncertain significance Single submitter
-
KCNK3 p.Asp355Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gln212Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gln46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gln56Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu252Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu341Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu34Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu60Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Gly129Asp Uncertain significance Single submitter
- KCNK3 p.Gly129Ser Uncertain significance Single submitter
-
KCNK3 p.Gly146Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly163Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Gly236Arg Uncertain significance Single submitter
-
KCNK3 p.Gly271Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gly273Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly276Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Gly277Asp Uncertain significance Single submitter
-
KCNK3 p.Gly293Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly293Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly349Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly349Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gly351Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly386Ala
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly58Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gly82Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK3 p.Gly82Ser Uncertain significance Single submitter
-
KCNK3 p.His98Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile132Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile168Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile168Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile325Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ile36Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Leu171Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Leu239Pro Uncertain significance Single submitter
- KCNK3 p.Leu241Phe Uncertain significance Single submitter
-
KCNK3 p.Leu333Phe
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Leu333Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Leu387Phe
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Lys255Glu Uncertain significance Single submitter
-
KCNK3 p.Lys316Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Met309Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Met309Val
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Phe164Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Phe296Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Pro330Gln
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser179Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser343Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser354Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser372Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ser375Thr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr265Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr356Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr356Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr376Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr92Ile
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Thr93Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Tyr113Cys Uncertain significance Single submitter
- KCNK3 p.Tyr205Cys Uncertain significance Single submitter
-
KCNK3 p.Tyr323Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Tyr85Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Val340Ala
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Val394Ala
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Val394Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
Predictors split 39
The independent predictors disagree with each other — read with care.
-
KCNK3 p.Ala74Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Arg261Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg318Cys
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Arg68Cys
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Glu319Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCNK3 p.Lys316Glu
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Met247Ile
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Met249Thr
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Pro326Ser
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ser380Arg
Likely benign
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Val6Ala
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala10Glu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala10Thr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Ala28Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Ala50Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Arg390Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Asn298Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Asn53Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Asp211Gly
Likely benign
Single submitter
autism spectrum disorder
-
KCNK3 p.Asp257Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Cys14Gly
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Gln46Pro Uncertain significance Single submitter
-
KCNK3 p.Glu34Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly268Trp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Gly275Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Gly275Glu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.His183Tyr
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Lys316Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK3 p.Phe16Leu Uncertain significance Single submitter
-
KCNK3 p.Phe186Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCNK3 p.Phe238Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
- KCNK3 p.Ser102Arg Uncertain significance Single submitter
-
KCNK3 p.Ser311Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Tyr85Phe
Uncertain significance
Single submitter
pulmonary hypertension, primary, 4
-
KCNK3 p.Val108Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KCNK3 p.Val123Ile Uncertain significance Single submitter
- KCNK3 p.Val136Leu Uncertain significance Single submitter
-
KCNK3 p.Met327Thr
Uncertain significance
No assertion criteria
KCNK3-related disorder
-
KCNK3 p.Val221Leu
Pathogenic
No assertion criteria
pulmonary hypertension, primary, 4
All KCNK3 variants
Pathogenic 6
- p.Asn133Ser Single submitter
- p.Gly203Asp Single submitter pulmonary hypertension, primary, 4
- p.Gly203Arg No assertion criteria pulmonary hypertension, primary, 4
- p.Thr8Lys No assertion criteria pulmonary hypertension, primary, 4
- p.Tyr192Cys No assertion criteria pulmonary hypertension, primary, 4
- p.Val221Leu No assertion criteria pulmonary hypertension, primary, 4 ⚠
Likely pathogenic 3
- p.Glu182Lys Multiple submitters pulmonary hypertension, primary, 4
- p.Leu122Pro Single submitter pulmonary hypertension, primary, 4
- p.Glu182Gln No assertion criteria pulmonary arterial hypertension
Conflicting classifications of pathogenicity 5
- p.Ala366Val Single submitter Inborn genetic diseases ⚠
- p.Arg318His Single submitter Inborn genetic diseases ⚠
- p.Thr230= Single submitter pulmonary hypertension, primary, 4
- p.Val206= Single submitter pulmonary hypertension, primary, 4
- p.Gly97Arg No assertion criteria KCNK3-related disorder ⚠
Benign 5
- c.283+114C>G Multiple submitters
- c.-120G>T Multiple submitters
- c.*13G>A Multiple submitters pulmonary hypertension, primary, 4
- p.Thr8= Single submitter pulmonary hypertension, primary, 4
- p.Tyr138= Single submitter pulmonary hypertension, primary, 4
Benign/Likely benign 2
Likely benign 92
- p.Asp253= Multiple submitters pulmonary hypertension, primary, 4
- p.Ile162= Multiple submitters pulmonary hypertension, primary, 4
- p.Leu387= Multiple submitters pulmonary hypertension, primary, 4
- p.Pro326= Multiple submitters pulmonary hypertension, primary, 4
- p.Pro33= Multiple submitters pulmonary hypertension, primary, 4
- p.Ser311= Multiple submitters pulmonary hypertension, primary, 4
- p.Ser380Arg Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Thr103= Multiple submitters pulmonary hypertension, primary, 4
- p.Thr265= Multiple submitters pulmonary hypertension, primary, 4
- p.Thr335= Multiple submitters Inborn genetic diseases
- p.Thr338= Multiple submitters pulmonary hypertension, primary, 4
- c.283+10C>T Single submitter
- c.283+12C>T Single submitter pulmonary hypertension, primary, 4
- c.283+18G>C Single submitter pulmonary hypertension, primary, 4
- c.283+19G>C Single submitter pulmonary hypertension, primary, 4
- c.283+20G>A Single submitter pulmonary hypertension, primary, 4
- c.283+6G>T Single submitter pulmonary hypertension, primary, 4
- c.284-8del Single submitter pulmonary hypertension, primary, 4
- c.284-9T>A Single submitter pulmonary hypertension, primary, 4
- c.-128G>C Single submitter
- p.Ala114= Single submitter pulmonary hypertension, primary, 4
- p.Ala152= Single submitter pulmonary hypertension, primary, 4
- p.Ala176= Single submitter
- p.Ala177= Single submitter pulmonary hypertension, primary, 4
- p.Ala189= Single submitter pulmonary hypertension, primary, 4
- p.Ala207= Single submitter pulmonary hypertension, primary, 4
- p.Ala251= Single submitter pulmonary hypertension, primary, 4
- p.Ala258= Single submitter pulmonary hypertension, primary, 4
- p.Ala301= Single submitter pulmonary hypertension, primary, 4
- p.Arg150= Single submitter pulmonary hypertension, primary, 4
- p.Arg318= Single submitter pulmonary hypertension, primary, 4
- p.Arg360= Single submitter pulmonary hypertension, primary, 4
- p.Arg391= Single submitter pulmonary hypertension, primary, 4
- p.Arg40= Single submitter pulmonary hypertension, primary, 4
- p.Arg49= Single submitter pulmonary hypertension, primary, 4
- p.Asn250= Single submitter pulmonary hypertension, primary, 4
- p.Asp153= Single submitter pulmonary hypertension, primary, 4
- p.Asp211Gly Single submitter autism spectrum disorder ⚠
- p.Cys167= Single submitter pulmonary hypertension, primary, 4
- p.Cys193= Single submitter pulmonary hypertension, primary, 4
- p.Gln212= Single submitter pulmonary hypertension, primary, 4
- p.Gly105= Single submitter pulmonary hypertension, primary, 4
- p.Gly146= Single submitter pulmonary hypertension, primary, 4
- p.Gly203= Single submitter pulmonary hypertension, primary, 4
- p.Gly274= Single submitter pulmonary hypertension, primary, 4
- p.Gly292= Single submitter pulmonary hypertension, primary, 4
- p.Gly295= Single submitter pulmonary hypertension, primary, 4
- p.Gly349= Single submitter pulmonary hypertension, primary, 4
- p.Gly377= Single submitter pulmonary hypertension, primary, 4
- p.His141Gln Single submitter
- p.His344= Single submitter pulmonary hypertension, primary, 4
- p.His98= Single submitter pulmonary hypertension, primary, 4
- p.Ile36= Single submitter pulmonary hypertension, primary, 4
- p.Ile371= Single submitter pulmonary hypertension, primary, 4
- p.Leu120= Single submitter pulmonary hypertension, primary, 4
- p.Leu122= Single submitter pulmonary hypertension, primary, 4
- p.Leu147= Single submitter pulmonary hypertension, primary, 4
- p.Leu161= Single submitter pulmonary hypertension, primary, 4
- p.Leu214= Single submitter pulmonary hypertension, primary, 4
- p.Leu241= Single submitter pulmonary hypertension, primary, 4
- p.Leu313= Single submitter pulmonary hypertension, primary, 4
- p.Phe238= Single submitter pulmonary hypertension, primary, 4
- p.Pro119= Single submitter pulmonary hypertension, primary, 4
- p.Pro347= Single submitter pulmonary hypertension, primary, 4
- p.Pro357= Single submitter pulmonary hypertension, primary, 4
- p.Pro367Gln Single submitter Inborn genetic diseases
- p.Pro71= Single submitter pulmonary hypertension, primary, 4
- p.Ser155= Single submitter pulmonary hypertension, primary, 4
- p.Ser31= Single submitter pulmonary hypertension, primary, 4
- p.Ser324= Single submitter pulmonary hypertension, primary, 4
- p.Ser334= Single submitter pulmonary hypertension, primary, 4
- p.Ser345= Single submitter pulmonary hypertension, primary, 4
- p.Ser364= Single submitter pulmonary hypertension, primary, 4
- p.Ser369= Single submitter pulmonary hypertension, primary, 4
- p.Ser375= Single submitter pulmonary hypertension, primary, 4
- p.Ser392= Single submitter pulmonary hypertension, primary, 4
- p.Ser83= Single submitter pulmonary hypertension, primary, 4
- p.Thr121= Single submitter pulmonary hypertension, primary, 4
- p.Thr170= Single submitter pulmonary hypertension, primary, 4
- p.Thr248= Single submitter pulmonary hypertension, primary, 4
- p.Thr288= Single submitter pulmonary hypertension, primary, 4
- p.Thr356= Single submitter pulmonary hypertension, primary, 4
- p.Thr376= Single submitter pulmonary hypertension, primary, 4
- p.Thr383= Single submitter pulmonary hypertension, primary, 4
- p.Thr93= Single submitter pulmonary hypertension, primary, 4
- p.Tyr220= Single submitter pulmonary hypertension, primary, 4
- p.Val108= Single submitter pulmonary hypertension, primary, 4
- p.Val13= Single submitter pulmonary hypertension, primary, 4
- p.Val154Met Single submitter autism spectrum disorder
- p.Val160= Single submitter pulmonary hypertension, primary, 4
- p.Val242= Single submitter pulmonary hypertension, primary, 4
- c.-2C>A No assertion criteria KCNK3-related disorder
Uncertain significance 170
- p.Ala152Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ala285Thr Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ala291Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg131Pro Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Arg261Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Arg318Cys Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Arg331Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg359Leu Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Arg68Cys Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Arg68Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Glu130Gly Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Glu319Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly268Arg Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly275Ala Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly276Asp Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly276Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly294Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly350Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly365Arg Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly365Glu Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Gly58Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ile325Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys316Glu Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Met247Ile Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Met249Thr Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Met388Val Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Pro326Ser Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ser179Phe Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ser278Arg Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Ser278Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr282Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr383Ala Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Tyr205Phe Multiple submitters pulmonary hypertension, primary, 4 ⚠
- p.Val6Ala Multiple submitters pulmonary hypertension, primary, 4 ⚠
- c.283+5C>T Single submitter pulmonary hypertension, primary, 4
- p.Ala10Glu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala10Thr Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala157Ser Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala213Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala251Ser Single submitter Inborn genetic diseases ⚠
- p.Ala262Thr Single submitter Inborn genetic diseases ⚠
- p.Ala262Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala270Gly Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala270Val Single submitter Inborn genetic diseases ⚠
- p.Ala285Pro Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ala28Val Single submitter Inborn genetic diseases ⚠
- p.Ala301Val Single submitter Inborn genetic diseases ⚠
- p.Ala50Glu Single submitter Inborn genetic diseases ⚠
- p.Ala50Pro Single submitter Inborn genetic diseases ⚠
- p.Ala50Thr Single submitter Inborn genetic diseases ⚠
- p.Ala87Ser Single submitter Inborn genetic diseases ⚠
- p.Arg131His Single submitter ⚠
- p.Arg142His Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg150Gln Single submitter Inborn genetic diseases ⚠
- p.Arg151Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg151His Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg245His Single submitter Inborn genetic diseases ⚠
- p.Arg352Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg359Gln Single submitter Inborn genetic diseases ⚠
- p.Arg385Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg390His Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg390Ser Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg3fs Single submitter pulmonary hypertension, primary, 4
- p.Arg49_Ala50insGlnGlnGluLeuArg Single submitter pulmonary hypertension, primary, 4
- p.Arg49Gln Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg51Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Arg64Gly Single submitter Inborn genetic diseases ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asn267Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asn298Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asn53Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asp153Gly Single submitter Inborn genetic diseases ⚠
- p.Asp204Asn Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asp257Asn Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asp337Asn Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Asp355His Single submitter ⚠
- p.Asp355Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys14Gly Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Cys361_Leu362insGlyArgTyrSerAspThrProSerArgArgCys Single submitter pulmonary hypertension, primary, 4
- p.Gln212Arg Single submitter Inborn genetic diseases ⚠
- p.Gln46Arg Single submitter Inborn genetic diseases ⚠
- p.Gln46Pro Single submitter ⚠
- p.Gln56Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Glu252Asp Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Glu341Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Glu34Asp Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Glu34Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Glu60Gln Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly129Asp Single submitter ⚠
- p.Gly129Ser Single submitter ⚠
- p.Gly146Arg Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly163Asp Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly236Arg Single submitter ⚠
- p.Gly268Trp Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly271Asp Single submitter Inborn genetic diseases ⚠
- p.Gly273Ser Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly275Arg Single submitter Inborn genetic diseases ⚠
- p.Gly275Glu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly276Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly277Asp Single submitter ⚠
- p.Gly293Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly293Ser Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly349Arg Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly349Glu Single submitter Inborn genetic diseases ⚠
- p.Gly351Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly386Ala Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Gly58Cys Single submitter Inborn genetic diseases ⚠
- p.Gly82Asp Single submitter Inborn genetic diseases ⚠
- p.Gly82Ser Single submitter ⚠
- p.His183Tyr Single submitter pulmonary hypertension, primary, 4 ⚠
- p.His98Gln Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile132Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile168Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile168Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile325Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile36Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ile94= Single submitter
- p.Leu147fs Single submitter pulmonary hypertension, primary, 4
- p.Leu171Pro Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Leu239Pro Single submitter ⚠
- p.Leu241Phe Single submitter ⚠
- p.Leu333Phe Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Leu333Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Leu387Phe Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Lys255Glu Single submitter ⚠
- p.Lys316Arg Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Lys316Asn Single submitter Inborn genetic diseases ⚠
- p.Met309Thr Single submitter Inborn genetic diseases ⚠
- p.Met309Val Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Phe109_Cys110insTer Single submitter pulmonary hypertension, primary, 4
- p.Phe164Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Phe16Leu Single submitter ⚠
- p.Phe186Leu Single submitter Inborn genetic diseases ⚠
- p.Phe238Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Phe296Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Pro330Gln Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ser102Arg Single submitter ⚠
- p.Ser179Pro Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ser311Leu Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ser343Arg Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ser354Asn Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Ser372Thr Single submitter Inborn genetic diseases ⚠
- p.Ser375Thr Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr216_Gln217dup Single submitter pulmonary hypertension, primary, 4
- p.Thr265Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr284_Ala285insAspThr Single submitter pulmonary hypertension, primary, 4
- p.Thr356Arg Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr356Lys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr376Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr92Ile Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Thr93Ser Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Tyr113Cys Single submitter ⚠
- p.Tyr205= Single submitter pulmonary hypertension, primary, 4
- p.Tyr205Cys Single submitter ⚠
- p.Tyr300Ter Single submitter
- p.Tyr323Asn Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Tyr85Cys Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Tyr85Phe Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Val108Gly Single submitter Inborn genetic diseases ⚠
- p.Val123Ile Single submitter ⚠
- p.Val136Leu Single submitter ⚠
- p.Val340= Single submitter pulmonary hypertension, primary, 4
- p.Val340Ala Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Val394Ala Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Val394Met Single submitter pulmonary hypertension, primary, 4 ⚠
- p.Met327Thr No assertion criteria KCNK3-related disorder ⚠
- p.Phe84_Thr89dup No assertion criteria pulmonary hypertension, primary, 4
- p.Tyr191Gln No assertion criteria pulmonary arterial hypertension