KCNK4 — 442 ClinVar variants
All ClinVar germline KCNK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →
1 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 25 Conflicting · 17 Benign · 8 Benign/Likely benign · 177 Likely benign · 210 Uncertain significance
Full KCNK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 200
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- KCNK4 p.Ala8Val Conflicting Single submitter
-
KCNK4 p.Ala93Thr
Conflicting
Single submitter
KCNK4-related disorder
- KCNK4 p.Arg265Gln Conflicting Single submitter
- KCNK4 p.Arg379Leu Conflicting Single submitter
- KCNK4 p.Cys309Tyr Conflicting Single submitter
- KCNK4 p.Glu38Gln Conflicting Single submitter
- KCNK4 p.Gly139Arg Conflicting Single submitter
- KCNK4 p.Gly151Ser Conflicting Single submitter
-
KCNK4 p.Gly254Arg
Conflicting
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.His31Gln Conflicting Single submitter
- KCNK4 p.Ile203Val Conflicting Single submitter
-
KCNK4 p.Leu146Pro
Conflicting
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Pro129Leu Conflicting Single submitter
- KCNK4 p.Pro229Leu Conflicting Single submitter
-
KCNK4 p.Pro233Leu
Conflicting
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Pro331Leu Conflicting Single submitter
- KCNK4 p.Ser79Leu Conflicting Single submitter
- KCNK4 p.Trp256Arg Conflicting Single submitter
- KCNK4 p.Val162Met Conflicting Single submitter
- KCNK4 p.Val213Met Conflicting Single submitter
- KCNK4 p.Val219Gly Conflicting Single submitter
- KCNK4 p.Val260Met Conflicting Single submitter
- KCNK4 p.Val65Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNK4 p.Ala124Val Uncertain significance Multiple submitters
- KCNK4 p.Ala290Asp Uncertain significance Multiple submitters
- KCNK4 p.Arg112His Uncertain significance Multiple submitters
- KCNK4 p.Arg263His Uncertain significance Multiple submitters
- KCNK4 p.Arg289Gln Uncertain significance Multiple submitters
- KCNK4 p.Arg2His Uncertain significance Multiple submitters
- KCNK4 p.Arg357Gly Uncertain significance Multiple submitters
- KCNK4 p.Arg363Leu Uncertain significance Multiple submitters
- KCNK4 p.Arg387Gln Uncertain significance Multiple submitters
- KCNK4 p.Cys120Arg Uncertain significance Multiple submitters
- KCNK4 p.Gly116Arg Uncertain significance Multiple submitters
- KCNK4 p.Gly116Trp Uncertain significance Multiple submitters
- KCNK4 p.Gly149Ala Uncertain significance Multiple submitters
- KCNK4 p.Gly242Ser Uncertain significance Multiple submitters
- KCNK4 p.His50Arg Uncertain significance Multiple submitters
- KCNK4 p.Ile207Thr Uncertain significance Multiple submitters
- KCNK4 p.Leu130Met Uncertain significance Multiple submitters
- KCNK4 p.Leu176Pro Uncertain significance Multiple submitters
- KCNK4 p.Leu344Met Uncertain significance Multiple submitters
- KCNK4 p.Lys199Asn Uncertain significance Multiple submitters
- KCNK4 p.Pro164Thr Uncertain significance Multiple submitters
- KCNK4 p.Pro362Leu Uncertain significance Multiple submitters
-
KCNK4 p.Ser228Phe
Uncertain significance
Multiple submitters
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Thr272Met Uncertain significance Multiple submitters
- KCNK4 p.Thr283Ala Uncertain significance Multiple submitters
- KCNK4 p.Tyr123Asn Uncertain significance Multiple submitters
- KCNK4 p.Val219Met Uncertain significance Multiple submitters
- KCNK4 p.Ala110Thr Uncertain significance Single submitter
- KCNK4 p.Ala115Asp Uncertain significance Single submitter
- KCNK4 p.Ala11Val Uncertain significance Single submitter
- KCNK4 p.Ala155Thr Uncertain significance Single submitter
- KCNK4 p.Ala202Val Uncertain significance Single submitter
- KCNK4 p.Ala222Thr Uncertain significance Single submitter
- KCNK4 p.Ala244Asp Uncertain significance Single submitter
- KCNK4 p.Ala266Thr Uncertain significance Single submitter
- KCNK4 p.Ala26Val Uncertain significance Single submitter
- KCNK4 p.Ala293Pro Uncertain significance Single submitter
- KCNK4 p.Ala294Ser Uncertain significance Single submitter
- KCNK4 p.Ala35Val Uncertain significance Single submitter
- KCNK4 p.Ala49Thr Uncertain significance Single submitter
- KCNK4 p.Ala73Val Uncertain significance Single submitter
- KCNK4 p.Arg117Cys Uncertain significance Single submitter
-
KCNK4 p.Arg117Pro
Uncertain significance
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Arg168Ser Uncertain significance Single submitter
- KCNK4 p.Arg25Gln Uncertain significance Single submitter
- KCNK4 p.Arg285His Uncertain significance Single submitter
- KCNK4 p.Arg289Leu Uncertain significance Single submitter
- KCNK4 p.Arg363Cys Uncertain significance Single submitter
- KCNK4 p.Arg369Cys Uncertain significance Single submitter
- KCNK4 p.Arg381Cys Uncertain significance Single submitter
- KCNK4 p.Arg385Pro Uncertain significance Single submitter
- KCNK4 p.Arg43Gln Uncertain significance Single submitter
- KCNK4 p.Asn108Ser Uncertain significance Single submitter
- KCNK4 p.Asn372Asp Uncertain significance Single submitter
- KCNK4 p.Asn82Ser Uncertain significance Single submitter
- KCNK4 p.Asp196Asn Uncertain significance Single submitter
- KCNK4 p.Asp352Tyr Uncertain significance Single submitter
- KCNK4 p.Cys359Arg Uncertain significance Single submitter
- KCNK4 p.Cys359Gly Uncertain significance Single submitter
- KCNK4 p.Gln56Lys Uncertain significance Single submitter
- KCNK4 p.Glu154Gly Uncertain significance Single submitter
- KCNK4 p.Glu165Asp Uncertain significance Single submitter
- KCNK4 p.Glu32Gly Uncertain significance Single submitter
- KCNK4 p.Glu64Val Uncertain significance Single submitter
- KCNK4 p.Gly105Ser Uncertain significance Single submitter
- KCNK4 p.Gly107Ser Uncertain significance Single submitter
- KCNK4 p.Gly127Glu Uncertain significance Single submitter
- KCNK4 p.Gly132Arg Uncertain significance Single submitter
- KCNK4 p.Gly137Val Uncertain significance Single submitter
- KCNK4 p.Gly242Cys Uncertain significance Single submitter
- KCNK4 p.Gly291Arg Uncertain significance Single submitter
- KCNK4 p.Gly358Arg Uncertain significance Single submitter
- KCNK4 p.Gly70Ala Uncertain significance Single submitter
- KCNK4 p.Gly71Ala Uncertain significance Single submitter
- KCNK4 p.Gly72Val Uncertain significance Single submitter
- KCNK4 p.Gly98Arg Uncertain significance Single submitter
- KCNK4 p.His152Asn Uncertain significance Single submitter
- KCNK4 p.Ile62Val Uncertain significance Single submitter
- KCNK4 p.Leu111Pro Uncertain significance Single submitter
- KCNK4 p.Leu118Phe Uncertain significance Single submitter
- KCNK4 p.Leu125Met Uncertain significance Single submitter
- KCNK4 p.Leu135Pro Uncertain significance Single submitter
- KCNK4 p.Leu158Ser Uncertain significance Single submitter
- KCNK4 p.Leu166Val Uncertain significance Single submitter
- KCNK4 p.Leu170Pro Uncertain significance Single submitter
- KCNK4 p.Leu210Phe Uncertain significance Single submitter
- KCNK4 p.Leu243Arg Uncertain significance Single submitter
- KCNK4 p.Leu27Pro Uncertain significance Single submitter
- KCNK4 p.Leu361Arg Uncertain significance Single submitter
- KCNK4 p.Leu47Pro Uncertain significance Single submitter
- KCNK4 p.Leu69Val Uncertain significance Single submitter
- KCNK4 p.Lys159Glu Uncertain significance Single submitter
- KCNK4 p.Lys325Arg Uncertain significance Single submitter
- KCNK4 p.Lys376Asn Uncertain significance Single submitter
- KCNK4 p.Lys376Glu Uncertain significance Single submitter
- KCNK4 p.Lys389Arg Uncertain significance Single submitter
- KCNK4 p.Met194Val Uncertain significance Single submitter
-
KCNK4 p.Phe183Leu
Uncertain significance
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Phe189Ile Uncertain significance Single submitter
- KCNK4 p.Phe189Leu Uncertain significance Single submitter
- KCNK4 p.Phe215Ser Uncertain significance Single submitter
- KCNK4 p.Phe237Ile Uncertain significance Single submitter
- KCNK4 p.Pro164Ala Uncertain significance Single submitter
- KCNK4 p.Pro187Ser Uncertain significance Single submitter
- KCNK4 p.Pro310Leu Uncertain significance Single submitter
- KCNK4 p.Pro317Ser Uncertain significance Single submitter
- KCNK4 p.Pro322Ala Uncertain significance Single submitter
-
KCNK4 p.Pro322Ser
Uncertain significance
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Pro323Arg Uncertain significance Single submitter
- KCNK4 p.Pro377Thr Uncertain significance Single submitter
- KCNK4 p.Pro51Gln Uncertain significance Single submitter
- KCNK4 p.Ser19Ala Uncertain significance Single submitter
- KCNK4 p.Ser19Pro Uncertain significance Single submitter
- KCNK4 p.Ser261Thr Uncertain significance Single submitter
- KCNK4 p.Ser277Gly Uncertain significance Single submitter
- KCNK4 p.Ser341Gly Uncertain significance Single submitter
- KCNK4 p.Ser350Thr Uncertain significance Single submitter
- KCNK4 p.Thr188Met Uncertain significance Single submitter
- KCNK4 p.Thr209Met Uncertain significance Single submitter
- KCNK4 p.Thr251Ala Uncertain significance Single submitter
- KCNK4 p.Thr283Lys Uncertain significance Single submitter
- KCNK4 p.Thr333Met Uncertain significance Single submitter
- KCNK4 p.Thr5Ala Uncertain significance Single submitter
- KCNK4 p.Trp278Arg Uncertain significance Single submitter
-
KCNK4 p.Tyr106Phe
Uncertain significance
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Val126Met Uncertain significance Single submitter
- KCNK4 p.Val138Ile Uncertain significance Single submitter
- KCNK4 p.Val162Leu Uncertain significance Single submitter
- KCNK4 p.Val260Ala Uncertain significance Single submitter
- KCNK4 p.Val286Met Uncertain significance Single submitter
- KCNK4 p.Val378Met Uncertain significance Single submitter
- KCNK4 p.Val393Leu Uncertain significance Single submitter
-
KCNK4 p.Val65Met
Uncertain significance
Single submitter
KCNK4-related disorder
Predictors split 43
The independent predictors disagree with each other — read with care.
- KCNK4 p.Ala244Thr Uncertain significance Multiple submitters
- KCNK4 p.Arg141Trp Uncertain significance Multiple submitters
- KCNK4 p.Arg147His Uncertain significance Multiple submitters
- KCNK4 p.Arg43Leu Benign/Likely benign Multiple submitters
- KCNK4 p.Val167Ala Uncertain significance Multiple submitters
- KCNK4 p.Val167Leu Uncertain significance Multiple submitters
- KCNK4 p.Ala244Val Uncertain significance Single submitter
- KCNK4 p.Ala73Thr Uncertain significance Single submitter
- KCNK4 p.Arg141Gln Uncertain significance Single submitter
- KCNK4 p.Arg147Cys Conflicting Single submitter
- KCNK4 p.Arg25Gly Uncertain significance Single submitter
- KCNK4 p.Arg25Trp Uncertain significance Single submitter
- KCNK4 p.Arg262Cys Likely benign Single submitter
- KCNK4 p.Arg262His Uncertain significance Single submitter
- KCNK4 p.Arg263Cys Uncertain significance Single submitter
- KCNK4 p.Arg289Pro Uncertain significance Single submitter
- KCNK4 p.Asn343Ser Uncertain significance Single submitter
- KCNK4 p.Asp348Asn Benign Single submitter
- KCNK4 p.Asp348His Likely benign Single submitter
- KCNK4 p.Asp74Gly Uncertain significance Single submitter
- KCNK4 p.Glu356Lys Likely benign Single submitter
- KCNK4 p.Gly137Arg Uncertain significance Single submitter
- KCNK4 p.Gly221Ser Uncertain significance Single submitter
- KCNK4 p.Gly269Asp Uncertain significance Single submitter
- KCNK4 p.Ile100Met Uncertain significance Single submitter
- KCNK4 p.Ile347Asn Uncertain significance Single submitter
- KCNK4 p.Leu134Ile Uncertain significance Single submitter
- KCNK4 p.Leu243Val Uncertain significance Single submitter
- KCNK4 p.Lys159Met Uncertain significance Single submitter
- KCNK4 p.Phe237Ser Uncertain significance Single submitter
- KCNK4 p.Phe246Leu Uncertain significance Single submitter
- KCNK4 p.Phe46Leu Uncertain significance Single submitter
- KCNK4 p.Pro233Ser Uncertain significance Single submitter
- KCNK4 p.Ser144Cys Uncertain significance Single submitter
- KCNK4 p.Thr186Arg Uncertain significance Single submitter
- KCNK4 p.Thr186Lys Uncertain significance Single submitter
- KCNK4 p.Thr279Asn Uncertain significance Single submitter
- KCNK4 p.Thr353Met Uncertain significance Single submitter
- KCNK4 p.Thr80Ile Uncertain significance Single submitter
- KCNK4 p.Val190Met Likely benign Single submitter
-
KCNK4 p.Val206Leu
Uncertain significance
Single submitter
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- KCNK4 p.Val235Ala Uncertain significance Single submitter
- KCNK4 p.Val235Leu Uncertain significance Single submitter
All KCNK4 variants
Pathogenic 1
- p.Gly143Asp Single submitter
Pathogenic/Likely pathogenic 2
- p.Ala244Pro Multiple submitters intellectual disability
- p.Gly139Glu Multiple submitters KCNK4-related disorder
Likely pathogenic 2
- p.Ala247Ser Single submitter ⚠
- p.Leu243Pro Single submitter
Conflicting classifications of pathogenicity 25
- p.Ala8Val Single submitter ⚠
- p.Ala93Thr Single submitter KCNK4-related disorder ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg265Gln Single submitter ⚠
- p.Arg379Leu Single submitter ⚠
- p.Cys309Tyr Single submitter ⚠
- p.Glu38Gln Single submitter ⚠
- p.Gly139Arg Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly254Arg Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.His31Gln Single submitter ⚠
- p.Ile203Val Single submitter ⚠
- p.Leu146Pro Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro229Leu Single submitter ⚠
- p.Pro233Leu Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Pro331Leu Single submitter ⚠
- p.Ser79Leu Single submitter ⚠
- p.Trp256Arg Single submitter ⚠
- p.Trp88Ter Single submitter
- p.Val162Met Single submitter ⚠
- p.Val213Met Single submitter ⚠
- p.Val219Gly Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val65Ala Single submitter ⚠
Benign 17
- c.314-12C>T Multiple submitters
- c.801+13G>A Multiple submitters
- c.801+7_801+16del Multiple submitters
- p.Pro328Leu Multiple submitters
- c.313+3G>A Single submitter
- c.661+11C>T Single submitter
- p.Arg385= Single submitter
- p.Asp348Asn Single submitter ⚠
- p.Gly179Ser Single submitter
- p.Gly216= Single submitter
- p.Gly384Arg Single submitter
- p.Ile104= Single submitter
- p.Pro229Gln Single submitter
- p.Pro332Thr Single submitter
- p.Pro392Thr Single submitter
- p.Thr103Ile Single submitter
- p.Val206Ile Single submitter
Benign/Likely benign 8
- p.Ala8= Multiple submitters
- p.Arg43Leu Multiple submitters ⚠
- p.Asn108= Multiple submitters
- p.Asp74Asn Multiple submitters
- p.Phe246= Multiple submitters
- p.Pro164= Multiple submitters
- p.Pro365Leu Multiple submitters
- p.Pro51= Multiple submitters
Likely benign 177
- c.661+8C>T Multiple submitters
- p.Ala11= Multiple submitters
- p.Ala21= Multiple submitters
- p.Arg379= Multiple submitters
- p.Pro360= Multiple submitters
- p.Ser228= Multiple submitters
- p.Ser92= Multiple submitters
- p.Thr186Met Multiple submitters
- p.Val138= Multiple submitters
- c.189+10T>C Single submitter
- c.189+10T>G Single submitter
- c.189+15C>T Single submitter
- c.189+16G>A Single submitter
- c.189+16G>T Single submitter
- c.314-13C>T Single submitter
- c.314-14G>A Single submitter
- c.314-14G>T Single submitter
- c.314-15C>T Single submitter
- c.314-17A>C Single submitter
- c.314-8C>T Single submitter
- c.474+13A>G Single submitter
- c.474+1G>A Single submitter
- c.475-12C>A Single submitter
- c.475-16C>T Single submitter
- c.475-4G>A Single submitter
- c.475-5C>T Single submitter
- c.661+12C>T Single submitter
- c.661+3G>C Single submitter
- c.661+9G>A Single submitter
- c.662-4C>G Single submitter
- c.662-5C>G Single submitter
- c.662-7A>G Single submitter
- c.801+7G>A Single submitter
- c.802-10C>T Single submitter
- c.802-18C>A Single submitter
- c.802-6G>A Single submitter
- p.Ala115= Single submitter
- p.Ala124= Single submitter
- p.Ala136= Single submitter
- p.Ala172= Single submitter
- p.Ala222= Single submitter
- p.Ala26Thr Single submitter
- p.Ala273= Single submitter
- p.Ala273Ser Single submitter
- p.Ala275= Single submitter
- p.Ala290= Single submitter
- p.Ala311= Single submitter
- p.Ala364= Single submitter
- p.Ala49= Single submitter
- p.Ala73= Single submitter
- p.Arg112= Single submitter
- p.Arg112Cys Single submitter
- p.Arg117= Single submitter
- p.Arg147= Single submitter
- p.Arg262= Single submitter
- p.Arg262Cys Single submitter ⚠
- p.Arg285= Single submitter
- p.Arg289= Single submitter
- p.Arg316= Single submitter
- p.Arg357= Single submitter
- p.Arg357Cys Single submitter
- p.Arg37= Single submitter
- p.Arg370= Single submitter
- p.Arg381= Single submitter
- p.Arg381His Single submitter
- p.Arg48= Single submitter
- p.Asn82= Single submitter
- p.Asp217= Single submitter
- p.Asp217Asn Single submitter
- p.Asp223= Single submitter
- p.Asp348His Single submitter ⚠
- p.Asp55His Single submitter
- p.Cys120= Single submitter
- p.Cys180= Single submitter
- p.Cys309= Single submitter
- p.Cys359= Single submitter
- p.Gln288= Single submitter
- p.Gln29= Single submitter
- p.Gln301Arg Single submitter
- p.Gln327Ter Single submitter
- p.Glu298Asp Single submitter
- p.Glu300= Single submitter
- p.Glu356Lys Single submitter ⚠
- p.Gly116= Single submitter
- p.Gly214Arg Single submitter
- p.Gly221= Single submitter
- p.Gly270= Single submitter
- p.Gly315Val Single submitter
- p.Gly382= Single submitter
- p.Gly59Ala Single submitter
- p.Gly59Ser Single submitter
- p.Gly98= Single submitter
- p.His161= Single submitter
- p.His31= Single submitter
- p.His85Tyr Single submitter
- p.Ile150= Single submitter
- p.Ile156= Single submitter
- p.Ile178= Single submitter
- p.Ile203Thr Single submitter
- p.Ile239= Single submitter
- p.Ile253= Single submitter
- p.Ile347= Single submitter
- p.Leu12= Single submitter
- p.Leu14= Single submitter
- p.Leu146= Single submitter
- p.Leu182Phe Single submitter
- p.Leu182Pro Single submitter
- p.Leu240= Single submitter
- p.Leu241= Single submitter
- p.Leu361= Single submitter
- p.Leu6= Single submitter
- p.Leu90= Single submitter
- p.Lys159= Single submitter
- p.Lys325Glu Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- p.Lys376= Single submitter
- p.Phe157= Single submitter
- p.Phe189= Single submitter
- p.Pro129= Single submitter
- p.Pro163= Single submitter
- p.Pro164Arg Single submitter
- p.Pro164Leu Single submitter
- p.Pro229= Single submitter
- p.Pro229Arg Single submitter
- p.Pro233= Single submitter
- p.Pro292Leu Single submitter
- p.Pro295= Single submitter
- p.Pro297= Single submitter
- p.Pro297Arg Single submitter
- p.Pro297Leu Single submitter
- p.Pro307= Single submitter
- p.Pro308= Single submitter
- p.Pro313Ala Single submitter
- p.Pro322= Single submitter
- p.Pro323= Single submitter
- p.Pro328= Single submitter
- p.Pro329= Single submitter
- p.Pro331= Single submitter
- p.Pro362= Single submitter
- p.Pro373= Single submitter
- p.Pro373Leu Single submitter
- p.Pro374= Single submitter
- p.Pro374Arg Single submitter
- p.Pro380= Single submitter
- p.Pro386= Single submitter
- p.Pro392= Single submitter
- p.Pro392Arg Single submitter
- p.Pro75= Single submitter
- p.Ser171= Single submitter
- p.Ser228Tyr Single submitter
- p.Ser321= Single submitter
- p.Ser351= Single submitter
- p.Ser54Thr Single submitter
- p.Ser83Asn Single submitter
- p.Ter394= Single submitter
- p.Thr103fs Single submitter
- p.Thr113Ala Single submitter
- p.Thr186= Single submitter
- p.Thr188= Single submitter
- p.Thr209= Single submitter
- p.Thr209Arg Single submitter
- p.Thr211= Single submitter
- p.Thr212= Single submitter
- p.Thr279= Single submitter
- p.Thr287= Single submitter
- p.Thr333= Single submitter
- p.Thr353= Single submitter
- p.Thr4Ile Single submitter
- p.Thr80= Single submitter
- p.Tyr204= Single submitter
- p.Tyr231= Single submitter
- p.Val126Leu Single submitter
- p.Val169= Single submitter
- p.Val18= Single submitter
- p.Val190= Single submitter
- p.Val190Met Single submitter ⚠
- p.Val235= Single submitter
- p.Val391= Single submitter
Uncertain significance 210
- p.Ala124Val Multiple submitters ⚠
- p.Ala244Thr Multiple submitters ⚠
- p.Ala290Asp Multiple submitters ⚠
- p.Arg112His Multiple submitters ⚠
- p.Arg141Trp Multiple submitters ⚠
- p.Arg147His Multiple submitters ⚠
- p.Arg263His Multiple submitters ⚠
- p.Arg289Gln Multiple submitters ⚠
- p.Arg2His Multiple submitters ⚠
- p.Arg357Gly Multiple submitters ⚠
- p.Arg363Leu Multiple submitters ⚠
- p.Arg387Gln Multiple submitters ⚠
- p.Asp388fs Multiple submitters
- p.Cys120Arg Multiple submitters ⚠
- p.Gly116Arg Multiple submitters ⚠
- p.Gly116Trp Multiple submitters ⚠
- p.Gly149Ala Multiple submitters ⚠
- p.Gly242Ser Multiple submitters ⚠
- p.His50Arg Multiple submitters ⚠
- p.Ile207Thr Multiple submitters ⚠
- p.Leu130Met Multiple submitters ⚠
- p.Leu176Pro Multiple submitters ⚠
- p.Leu344Met Multiple submitters ⚠
- p.Lys199Asn Multiple submitters ⚠
- p.Pro164Thr Multiple submitters ⚠
- p.Pro362Leu Multiple submitters ⚠
- p.Ser228Phe Multiple submitters facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Thr272Met Multiple submitters ⚠
- p.Thr283Ala Multiple submitters ⚠
- p.Tyr123Asn Multiple submitters ⚠
- p.Val167Ala Multiple submitters ⚠
- p.Val167Leu Multiple submitters ⚠
- p.Val219Met Multiple submitters ⚠
- c.189+5G>A Single submitter
- c.313+7G>A Single submitter
- c.474+6C>T Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- c.475-1G>A Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- c.662-13G>A Single submitter
- c.801+5G>T Single submitter
- c.801+6C>T Single submitter
- c.802-2A>C Single submitter
- p.Ala110Thr Single submitter ⚠
- p.Ala115Asp Single submitter ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala202Val Single submitter ⚠
- p.Ala222Thr Single submitter ⚠
- p.Ala244Asp Single submitter ⚠
- p.Ala244Val Single submitter ⚠
- p.Ala247Thr Single submitter
- p.Ala266Thr Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala293Pro Single submitter ⚠
- p.Ala294Ser Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg117fs Single submitter
- p.Arg117His Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- p.Arg117Pro Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg168Ser Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg25Gly Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg263Cys Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg289Leu Single submitter ⚠
- p.Arg289Pro Single submitter ⚠
- p.Arg363Cys Single submitter ⚠
- p.Arg369Cys Single submitter ⚠
- p.Arg381Cys Single submitter ⚠
- p.Arg385Pro Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg43Ter Single submitter
- p.Asn108Ser Single submitter ⚠
- p.Asn108Tyr Single submitter
- p.Asn343Ser Single submitter ⚠
- p.Asn372Asp Single submitter ⚠
- p.Asn82Ser Single submitter ⚠
- p.Asp196Asn Single submitter ⚠
- p.Asp338fs Single submitter
- p.Asp352Tyr Single submitter ⚠
- p.Asp74Gly Single submitter ⚠
- p.Cys359Arg Single submitter ⚠
- p.Cys359Gly Single submitter ⚠
- p.Gln56Lys Single submitter ⚠
- p.Glu154Gly Single submitter ⚠
- p.Glu165Asp Single submitter ⚠
- p.Glu300Ter Single submitter
- p.Glu32Gly Single submitter ⚠
- p.Glu57Ter Single submitter
- p.Glu64Val Single submitter ⚠
- p.Gly105Ser Single submitter ⚠
- p.Gly107Ser Single submitter ⚠
- p.Gly127Glu Single submitter ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly137Arg Single submitter ⚠
- p.Gly137Val Single submitter ⚠
- p.Gly221Ser Single submitter ⚠
- p.Gly242Cys Single submitter ⚠
- p.Gly254fs Single submitter
- p.Gly269Asp Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly384fs Single submitter
- p.Gly70Ala Single submitter ⚠
- p.Gly71Ala Single submitter ⚠
- p.Gly72Val Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.His152Asn Single submitter ⚠
- p.Ile100= Single submitter
- p.Ile100Met Single submitter ⚠
- p.Ile347Asn Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Leu111Pro Single submitter ⚠
- p.Leu118Phe Single submitter ⚠
- p.Leu125Met Single submitter ⚠
- p.Leu134Ile Single submitter ⚠
- p.Leu135Pro Single submitter ⚠
- p.Leu158Ser Single submitter ⚠
- p.Leu166Val Single submitter ⚠
- p.Leu170Pro Single submitter ⚠
- p.Leu210Phe Single submitter ⚠
- p.Leu243Arg Single submitter ⚠
- p.Leu243Val Single submitter ⚠
- p.Leu27Pro Single submitter ⚠
- p.Leu361Arg Single submitter ⚠
- p.Leu361del Single submitter
- p.Leu47Pro Single submitter ⚠
- p.Leu69Val Single submitter ⚠
- p.Lys159Glu Single submitter ⚠
- p.Lys159Met Single submitter ⚠
- p.Lys325Arg Single submitter ⚠
- p.Lys376Asn Single submitter ⚠
- p.Lys376Glu Single submitter ⚠
- p.Lys389Arg Single submitter ⚠
- p.Lys63= Single submitter
- p.Met194Val Single submitter ⚠
- p.Phe157del Single submitter
- p.Phe175fs Single submitter
- p.Phe183Leu Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Phe189Ile Single submitter ⚠
- p.Phe189Leu Single submitter ⚠
- p.Phe215Ser Single submitter ⚠
- p.Phe237Ile Single submitter ⚠
- p.Phe237Ser Single submitter ⚠
- p.Phe246Leu Single submitter ⚠
- p.Phe46Leu Single submitter ⚠
- p.Pro164Ala Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro313_Leu314insGlnPro Single submitter
- p.Pro317Ser Single submitter ⚠
- p.Pro322Ala Single submitter ⚠
- p.Pro322fs Single submitter
- p.Pro322Ser Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Pro323Arg Single submitter ⚠
- p.Pro374_Pro377del Single submitter
- p.Pro377Thr Single submitter ⚠
- p.Pro392fs Single submitter
- p.Pro51Gln Single submitter ⚠
- p.Pro75Gln Single submitter
- p.Ser144Cys Single submitter ⚠
- p.Ser171Ter Single submitter
- p.Ser19Ala Single submitter ⚠
- p.Ser19Pro Single submitter ⚠
- p.Ser261Thr Single submitter ⚠
- p.Ser277Gly Single submitter ⚠
- p.Ser321Ter Single submitter
- p.Ser341Gly Single submitter ⚠
- p.Ser350Thr Single submitter ⚠
- p.Ser3del Single submitter
- p.Ter394Trp Single submitter
- p.Thr186Arg Single submitter ⚠
- p.Thr186Lys Single submitter ⚠
- p.Thr188Met Single submitter ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr251Ala Single submitter ⚠
- p.Thr279Asn Single submitter ⚠
- p.Thr281Ser Single submitter
- p.Thr283Lys Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr353Met Single submitter ⚠
- p.Thr5Ala Single submitter ⚠
- p.Thr80fs Single submitter
- p.Thr80Ile Single submitter ⚠
- p.Trp197Ter Single submitter
- p.Trp238Ter Single submitter
- p.Trp278Arg Single submitter ⚠
- p.Tyr106Phe Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Tyr123Cys Single submitter
- p.Tyr123delinsCysArg Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- p.Val126Met Single submitter ⚠
- p.Val138Ile Single submitter ⚠
- p.Val162Leu Single submitter ⚠
- p.Val190_Phe191del Single submitter
- p.Val206Leu Single submitter facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome ⚠
- p.Val235Ala Single submitter ⚠
- p.Val235Leu Single submitter ⚠
- p.Val260Ala Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val378Met Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val65Met Single submitter KCNK4-related disorder ⚠
- p.Arg375fs No assertion criteria KCNK4-related disorder