KCTD7 — 413 ClinVar variants
All ClinVar germline KCTD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
15 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 24 Conflicting · 23 Benign · 4 Benign/Likely benign · 136 Likely benign · 192 Uncertain significance
Full KCTD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KCTD7 p.Asn273Ile
Pathogenic
No assertion criteria
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp115Tyr
Pathogenic
No assertion criteria
progressive myoclonic epilepsy type 3
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KCTD7 p.Arg112Cys
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg112His
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg121Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KCTD7 p.Arg70Trp
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg84Trp
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Tyr86His
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KCTD7 p.Ala124Gly
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala23Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala38Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg121Cys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg121His
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg153Cys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg169Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg175Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg214Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg70Gln
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp26Tyr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp98Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Gln255Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Gln262Glu
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Glu73Lys
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Glu92Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Gly58Arg
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.His61Tyr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile134Val
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile87Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Leu147Pro
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Met80Thr
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr250Met
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr89Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Ala129Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala133Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala155Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala237Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala41Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Arg123Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Arg123Leu Uncertain significance Single submitter
-
KCTD7 p.Arg12Pro
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg175Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg181Gln
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Arg211Gln Uncertain significance Single submitter
-
KCTD7 p.Arg211Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg214Trp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg279Leu
Uncertain significance
Single submitter
KCTD7-related disorder
-
KCTD7 p.Arg99Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asn143Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asn208Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp106Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp165Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp26Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Cys204Tyr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gln140Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gln37Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Gln47Arg Uncertain significance Single submitter
-
KCTD7 p.Gln47His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Glu128Lys Uncertain significance Single submitter
-
KCTD7 p.Glu150Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Glu227Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Glu24Gly
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Glu51Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Glu73Gly Uncertain significance Single submitter
-
KCTD7 p.Glu8Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly158Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly93Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly93Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.His61Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.His61Asp
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile173Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile264Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile286Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile57Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu206Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu206Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Leu210Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu257Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu271Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu77Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Lys127Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Met144Lys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Met144Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KCTD7 p.Met18Val Uncertain significance Single submitter
-
KCTD7 p.Met80Val
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Phe110Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Pro30Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Pro54Ser Uncertain significance Single submitter
-
KCTD7 p.Ser217Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Ser21Thr Uncertain significance Single submitter
-
KCTD7 p.Ser253Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr258Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr5Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr75Ile
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Tyr131Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Tyr162Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Tyr282Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Tyr86Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Tyr95Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Val179Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Val53Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly101Asp
Uncertain significance
No assertion criteria
progressive myoclonic epilepsy type 3
Predictors split 42
The independent predictors disagree with each other — read with care.
-
KCTD7 p.Ala174Thr
Likely pathogenic
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg175Trp
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg177His
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg181Trp
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg184Cys
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Arg65Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.His224Tyr
Uncertain significance
Multiple submitters
KCTD7-related disorder
-
KCTD7 p.Lys148Asn
Uncertain significance
Multiple submitters
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr63Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KCTD7 p.Tyr276Cys
Pathogenic/Likely pathogenic
Multiple submitters
KCTD7-related disorder
-
KCTD7 p.Ala178Val
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ala79Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Asp243Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Asp251Glu Uncertain significance Single submitter
-
KCTD7 p.Cys226Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly149Cys
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly233Glu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly265Arg
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.His103Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Ile173Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu116Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu167Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Leu69Val
Pathogenic
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Lys269Asn
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Lys278Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Met76Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KCTD7 p.Phe212Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Phe49Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Pro161Ser
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Pro201Arg
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Pro201His
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Pro201Thr
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Pro50Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Thr64Ala
Conflicting
Single submitter
KCTD7-related disorder
-
KCTD7 p.Trp235Ser
Conflicting
Single submitter
progressive myoclonic epilepsy type 3
- KCTD7 p.Tyr275Cys Uncertain significance Single submitter
-
KCTD7 p.Val190Ala
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Val259Met
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Val266Leu
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Val52Phe
Uncertain significance
Single submitter
progressive myoclonic epilepsy type 3
-
KCTD7 p.Arg184His
Likely pathogenic
No assertion criteria
progressive myoclonic epilepsy type 3
-
KCTD7 p.Gly114Trp
Likely pathogenic
No assertion criteria
Epileptic encephalopathy
All KCTD7 variants
Pathogenic 15
- p.Arg99Ter Multiple submitters KCTD7-related disorder
- p.Asp115fs Multiple submitters progressive myoclonic epilepsy type 3
- p.Arg123Ter Single submitter progressive myoclonic epilepsy type 3
- p.Gln130Ter Single submitter progressive myoclonic epilepsy type 3
- p.Glu172Ter Single submitter progressive myoclonic epilepsy type 3
- p.Ile199fs Single submitter progressive myoclonic epilepsy type 3
- p.Leu111fs Single submitter progressive myoclonic epilepsy type 3
- p.Leu44fs Single submitter progressive myoclonic epilepsy type 3
- p.Leu69Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ser113Ter Single submitter progressive myoclonic epilepsy type 3
- p.Val179fs Single submitter
- p.Asn273Ile No assertion criteria progressive myoclonic epilepsy type 3 ⚠
- p.Asp115Tyr No assertion criteria progressive myoclonic epilepsy type 3 ⚠
- p.Leu108Met No assertion criteria progressive myoclonic epilepsy type 3
- p.Phe232fs No assertion criteria progressive myoclonic epilepsy type 3
Pathogenic/Likely pathogenic 3
- p.Arg184Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg211Ter Multiple submitters Inborn genetic diseases
- p.Tyr276Cys Multiple submitters KCTD7-related disorder ⚠
Likely pathogenic 16
- c.145-2A>G Multiple submitters Inborn genetic diseases
- p.Ala174Thr Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- c.314+1G>A Single submitter progressive myoclonic epilepsy type 3
- c.493+2_493+6del Single submitter progressive myoclonic epilepsy type 3
- p.Arg153Pro Single submitter progressive myoclonic epilepsy type 3
- p.Arg279_Pro280del Single submitter progressive myoclonic epilepsy type 3
- p.Arg279Cys Single submitter neuronal ceroid lipofuscinosis
- p.Asp98= Single submitter progressive myoclonic epilepsy type 3
- p.Cys71fs Single submitter progressive myoclonic epilepsy type 3
- p.Leu244fs Single submitter neuronal ceroid lipofuscinosis
- p.Leu252Val Single submitter Inborn genetic diseases
- p.Tyr131Ter Single submitter neuronal ceroid lipofuscinosis
- p.Tyr202fs Single submitter neuronal ceroid lipofuscinosis
- p.Arg184His No assertion criteria progressive myoclonic epilepsy type 3 ⚠
- p.Asp229Tyr No assertion criteria progressive myoclonic epilepsy type 3
- p.Gly114Trp No assertion criteria Epileptic encephalopathy ⚠
Conflicting classifications of pathogenicity 24
- c.*3238G>A Single submitter progressive myoclonic epilepsy type 3
- p.Ala129= Single submitter progressive myoclonic epilepsy type 3
- p.Ala178Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg112Cys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg112His Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg121Leu Single submitter Inborn genetic diseases ⚠
- p.Arg123= Single submitter progressive myoclonic epilepsy type 3
- p.Arg70Trp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg84Gln Single submitter progressive myoclonic epilepsy type 3
- p.Arg84Trp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg94Gln Single submitter progressive myoclonic epilepsy type 3
- p.Arg94Trp Single submitter neuronal ceroid lipofuscinosis
- p.Asp229= Single submitter Inborn genetic diseases
- p.Glu128= Single submitter Inborn genetic diseases
- p.Gly149= Single submitter progressive myoclonic epilepsy type 3
- p.Gly265Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile97= Single submitter progressive myoclonic epilepsy type 3
- p.Leu207= Single submitter progressive myoclonic epilepsy type 3
- p.Leu45= Single submitter progressive myoclonic epilepsy type 3
- p.Ser91= Single submitter Inborn genetic diseases
- p.Thr64Ala Single submitter KCTD7-related disorder ⚠
- p.Trp235Ser Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Tyr86His Single submitter Inborn genetic diseases ⚠
- p.Val152= Single submitter progressive myoclonic epilepsy type 3
Benign 23
- c.314+51G>A Multiple submitters
- c.315-24C>T Multiple submitters
- c.493+18_493+21dup Multiple submitters progressive myoclonic epilepsy type 3
- c.-44C>T Multiple submitters progressive myoclonic epilepsy type 3
- c.*1727G>C Multiple submitters progressive myoclonic epilepsy type 3
- c.*216A>G Multiple submitters progressive myoclonic epilepsy type 3
- c.*2656A>G Multiple submitters progressive myoclonic epilepsy type 3
- c.*2805C>T Multiple submitters progressive myoclonic epilepsy type 3
- c.*3033T>C Multiple submitters progressive myoclonic epilepsy type 3
- c.*3752C>G Multiple submitters progressive myoclonic epilepsy type 3
- c.*690G>C Multiple submitters progressive myoclonic epilepsy type 3
- c.*708C>T Multiple submitters progressive myoclonic epilepsy type 3
- c.*944C>G Multiple submitters progressive myoclonic epilepsy type 3
- c.*979C>A Multiple submitters progressive myoclonic epilepsy type 3
- c.*9G>T Multiple submitters progressive myoclonic epilepsy type 3
- p.Asp218= Multiple submitters Inborn genetic diseases
- p.Thr89= Multiple submitters Inborn genetic diseases
- c.144+269C>T Single submitter
- c.494-149G>C Single submitter
- c.*1926G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2080A>G Single submitter progressive myoclonic epilepsy type 3
- c.*3961C>T Single submitter progressive myoclonic epilepsy type 3
- c.*880T>C Single submitter progressive myoclonic epilepsy type 3
Benign/Likely benign 4
Likely benign 136
- c.315-10T>C Multiple submitters progressive myoclonic epilepsy type 3
- c.493+57G>C Multiple submitters
- c.-277G>C Multiple submitters
- p.Ala183= Multiple submitters progressive myoclonic epilepsy type 3
- p.Asn56= Multiple submitters Inborn genetic diseases
- p.Ile57= Multiple submitters progressive myoclonic epilepsy type 3
- p.Leu137= Multiple submitters progressive myoclonic epilepsy type 3
- p.Leu147= Multiple submitters Inborn genetic diseases
- p.Leu245= Multiple submitters Inborn genetic diseases
- p.Pro198= Multiple submitters progressive myoclonic epilepsy type 3
- p.Thr258= Multiple submitters Inborn genetic diseases
- p.Tyr163= Multiple submitters progressive myoclonic epilepsy type 3
- p.Val241= Multiple submitters Inborn genetic diseases
- c.144+11G>C Single submitter
- c.144+15G>A Single submitter progressive myoclonic epilepsy type 3
- c.144+165C>A Single submitter
- c.144+18G>A Single submitter progressive myoclonic epilepsy type 3
- c.145-15G>T Single submitter progressive myoclonic epilepsy type 3
- c.145-16G>C Single submitter progressive myoclonic epilepsy type 3
- c.145-17T>A Single submitter progressive myoclonic epilepsy type 3
- c.145-19C>G Single submitter progressive myoclonic epilepsy type 3
- c.145-19C>T Single submitter progressive myoclonic epilepsy type 3
- c.145-285G>A Single submitter
- c.145-36G>A Single submitter
- c.145-4C>G Single submitter progressive myoclonic epilepsy type 3
- c.145-4C>T Single submitter progressive myoclonic epilepsy type 3
- c.145-5del Single submitter progressive myoclonic epilepsy type 3
- c.145-6T>C Single submitter progressive myoclonic epilepsy type 3
- c.314+13C>T Single submitter progressive myoclonic epilepsy type 3
- c.314+166del Single submitter
- c.314+166dup Single submitter
- c.314+18C>G Single submitter progressive myoclonic epilepsy type 3
- c.314+19A>C Single submitter progressive myoclonic epilepsy type 3
- c.314+20A>G Single submitter progressive myoclonic epilepsy type 3
- c.314+9C>T Single submitter progressive myoclonic epilepsy type 3
- c.315-13C>T Single submitter progressive myoclonic epilepsy type 3
- c.315-15T>C Single submitter progressive myoclonic epilepsy type 3
- c.315-16T>C Single submitter progressive myoclonic epilepsy type 3
- c.315-17C>T Single submitter progressive myoclonic epilepsy type 3
- c.315-32_315-17del Single submitter progressive myoclonic epilepsy type 3
- c.315-4T>A Single submitter progressive myoclonic epilepsy type 3
- c.315-4T>C Single submitter progressive myoclonic epilepsy type 3
- c.315-5C>G Single submitter progressive myoclonic epilepsy type 3
- c.315-8C>G Single submitter progressive myoclonic epilepsy type 3
- c.315-9C>T Single submitter progressive myoclonic epilepsy type 3
- c.315-?_*3997+?dup Single submitter progressive myoclonic epilepsy type 3
- c.493+13T>A Single submitter
- c.493+14G>C Single submitter progressive myoclonic epilepsy type 3
- c.493+16C>T Single submitter progressive myoclonic epilepsy type 3
- c.493+7G>T Single submitter progressive myoclonic epilepsy type 3
- c.494-11C>T Single submitter progressive myoclonic epilepsy type 3
- c.494-14G>A Single submitter progressive myoclonic epilepsy type 3
- c.494-19G>A Single submitter progressive myoclonic epilepsy type 3
- c.494-20T>A Single submitter progressive myoclonic epilepsy type 3
- c.494-5T>C Single submitter progressive myoclonic epilepsy type 3
- c.494-7C>T Single submitter progressive myoclonic epilepsy type 3
- c.-32C>T Single submitter
- c.-443G>C Single submitter
- c.-45G>A Single submitter
- c.-7C>T Single submitter
- c.*1145T>C Single submitter
- c.*1154T>C Single submitter
- c.*1619A>G Single submitter progressive myoclonic epilepsy type 3
- c.*1839T>C Single submitter progressive myoclonic epilepsy type 3
- c.*2137T>C Single submitter progressive myoclonic epilepsy type 3
- c.*221G>T Single submitter progressive myoclonic epilepsy type 3
- c.*3612G>A Single submitter progressive myoclonic epilepsy type 3
- c.*3991G>C Single submitter progressive myoclonic epilepsy type 3
- c.*8C>T Single submitter
- c.*9G>A Single submitter
- p.Ala155= Single submitter progressive myoclonic epilepsy type 3
- p.Ala17= Single submitter progressive myoclonic epilepsy type 3
- p.Ala178= Single submitter progressive myoclonic epilepsy type 3
- p.Ala41= Single submitter progressive myoclonic epilepsy type 3
- p.Arg112= Single submitter progressive myoclonic epilepsy type 3
- p.Arg121= Single submitter progressive myoclonic epilepsy type 3
- p.Arg214= Single submitter progressive myoclonic epilepsy type 3
- p.Arg65= Single submitter progressive myoclonic epilepsy type 3
- p.Arg84= Single submitter progressive myoclonic epilepsy type 3
- p.Arg99= Single submitter progressive myoclonic epilepsy type 3
- p.Asp115= Single submitter progressive myoclonic epilepsy type 3
- p.Asp90= Single submitter progressive myoclonic epilepsy type 3
- p.Cys204= Single submitter progressive myoclonic epilepsy type 3
- p.Cys226= Single submitter progressive myoclonic epilepsy type 3
- p.Gln262= Single submitter progressive myoclonic epilepsy type 3
- p.Gln37= Single submitter progressive myoclonic epilepsy type 3
- p.Glu139= Single submitter progressive myoclonic epilepsy type 3
- p.Glu213= Single submitter progressive myoclonic epilepsy type 3
- p.Gly114= Single submitter progressive myoclonic epilepsy type 3
- p.Gly135= Single submitter progressive myoclonic epilepsy type 3
- p.Gly16= Single submitter
- p.Gly233= Single submitter progressive myoclonic epilepsy type 3
- p.Gly59= Single submitter Inborn genetic diseases
- p.Gly93= Single submitter progressive myoclonic epilepsy type 3
- p.His270= Single submitter progressive myoclonic epilepsy type 3
- p.Ile134= Single submitter progressive myoclonic epilepsy type 3
- p.Ile173= Single submitter progressive myoclonic epilepsy type 3
- p.Ile264= Single submitter progressive myoclonic epilepsy type 3
- p.Leu138= Single submitter progressive myoclonic epilepsy type 3
- p.Leu141= Single submitter progressive myoclonic epilepsy type 3
- p.Leu167= Single submitter progressive myoclonic epilepsy type 3
- p.Leu176= Single submitter progressive myoclonic epilepsy type 3
- p.Leu188= Single submitter progressive myoclonic epilepsy type 3
- p.Leu206= Single submitter progressive myoclonic epilepsy type 3
- p.Leu244= Single submitter progressive myoclonic epilepsy type 3
- p.Leu257= Single submitter progressive myoclonic epilepsy type 3
- p.Leu271= Single submitter progressive myoclonic epilepsy type 3
- p.Leu28= Single submitter progressive myoclonic epilepsy type 3
- p.Leu55= Single submitter progressive myoclonic epilepsy type 3
- p.Leu69= Single submitter progressive myoclonic epilepsy type 3
- p.Lys278= Single submitter progressive myoclonic epilepsy type 3
- p.Phe110= Single submitter progressive myoclonic epilepsy type 3
- p.Pro117= Single submitter progressive myoclonic epilepsy type 3
- p.Pro201= Single submitter progressive myoclonic epilepsy type 3
- p.Pro205= Single submitter progressive myoclonic epilepsy type 3
- p.Pro30= Single submitter
- p.Pro33= Single submitter progressive myoclonic epilepsy type 3
- p.Pro54= Single submitter progressive myoclonic epilepsy type 3
- p.Pro88= Single submitter progressive myoclonic epilepsy type 3
- p.Ser113= Single submitter progressive myoclonic epilepsy type 3
- p.Ser253= Single submitter progressive myoclonic epilepsy type 3
- p.Thr250= Single submitter progressive myoclonic epilepsy type 3
- p.Thr287= Single submitter progressive myoclonic epilepsy type 3
- p.Thr34= Single submitter
- p.Thr68= Single submitter progressive myoclonic epilepsy type 3
- p.Tyr131= Single submitter progressive myoclonic epilepsy type 3
- p.Tyr202= Single submitter
- p.Tyr72= Single submitter progressive myoclonic epilepsy type 3
- p.Tyr86= Single submitter progressive myoclonic epilepsy type 3
- p.Tyr95= Single submitter progressive myoclonic epilepsy type 3
- p.Val107= Single submitter progressive myoclonic epilepsy type 3
- p.Val238= Single submitter progressive myoclonic epilepsy type 3
- p.Val4= Single submitter progressive myoclonic epilepsy type 3
- c.493+22T>A No assertion criteria
- c.-24C>T No assertion criteria
- c.*4G>A No assertion criteria KCTD7-related disorder
Uncertain significance 192
- c.144+3A>G Multiple submitters progressive myoclonic epilepsy type 3
- p.Ala124Gly Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Ala23Val Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Ala38Val Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg121Cys Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg121His Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg153Cys Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg169Gln Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg169Trp Multiple submitters progressive myoclonic epilepsy type 3
- p.Arg175Gln Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg175Trp Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg177His Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg181Trp Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg214Gln Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Arg65Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg70Gln Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Asp26Tyr Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Asp98Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln255Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln262Glu Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Glu73Lys Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Glu92Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly135Arg Multiple submitters progressive myoclonic epilepsy type 3
- p.Gly58Arg Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.His224Tyr Multiple submitters KCTD7-related disorder ⚠
- p.His61Tyr Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Ile134Val Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Ile87Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu141_Glu142insVal Multiple submitters progressive myoclonic epilepsy type 3
- p.Leu147Pro Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Lys148Asn Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Met80Thr Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Pro205Leu Multiple submitters progressive myoclonic epilepsy type 3
- p.Pro33_Thr36del Multiple submitters progressive myoclonic epilepsy type 3
- p.Thr250Met Multiple submitters progressive myoclonic epilepsy type 3 ⚠
- p.Thr63Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr89Met Multiple submitters Inborn genetic diseases ⚠
- p.Trp289del Multiple submitters progressive myoclonic epilepsy type 3
- c.144+4C>A Single submitter progressive myoclonic epilepsy type 3
- c.144+4C>G Single submitter progressive myoclonic epilepsy type 3
- c.493+3G>C Single submitter progressive myoclonic epilepsy type 3
- c.494-3T>C Single submitter progressive myoclonic epilepsy type 3
- c.-155G>C Single submitter progressive myoclonic epilepsy type 3
- c.-170G>T Single submitter progressive myoclonic epilepsy type 3
- c.-181T>G Single submitter progressive myoclonic epilepsy type 3
- c.-55C>T Single submitter progressive myoclonic epilepsy type 3
- c.*1123A>G Single submitter progressive myoclonic epilepsy type 3
- c.*1293A>G Single submitter progressive myoclonic epilepsy type 3
- c.*1334T>C Single submitter progressive myoclonic epilepsy type 3
- c.*1404G>A Single submitter progressive myoclonic epilepsy type 3
- c.*1581C>G Single submitter progressive myoclonic epilepsy type 3
- c.*1587C>T Single submitter progressive myoclonic epilepsy type 3
- c.*1624T>C Single submitter progressive myoclonic epilepsy type 3
- c.*1740G>A Single submitter progressive myoclonic epilepsy type 3
- c.*1810C>T Single submitter progressive myoclonic epilepsy type 3
- c.*1911C>G Single submitter progressive myoclonic epilepsy type 3
- c.*1960T>C Single submitter progressive myoclonic epilepsy type 3
- c.*1978A>T Single submitter progressive myoclonic epilepsy type 3
- c.*2009A>G Single submitter progressive myoclonic epilepsy type 3
- c.*2163C>T Single submitter progressive myoclonic epilepsy type 3
- c.*2175C>A Single submitter progressive myoclonic epilepsy type 3
- c.*2190C>T Single submitter progressive myoclonic epilepsy type 3
- c.*2322G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2327T>C Single submitter progressive myoclonic epilepsy type 3
- c.*2530G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2692A>G Single submitter progressive myoclonic epilepsy type 3
- c.*2746G>C Single submitter progressive myoclonic epilepsy type 3
- c.*2806G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2822G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2837G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2868C>T Single submitter progressive myoclonic epilepsy type 3
- c.*2973G>A Single submitter progressive myoclonic epilepsy type 3
- c.*2988A>G Single submitter progressive myoclonic epilepsy type 3
- c.*3404T>C Single submitter progressive myoclonic epilepsy type 3
- c.*3508G>T Single submitter progressive myoclonic epilepsy type 3
- c.*354C>G Single submitter progressive myoclonic epilepsy type 3
- c.*365C>T Single submitter progressive myoclonic epilepsy type 3
- c.*3700G>A Single submitter progressive myoclonic epilepsy type 3
- c.*3730C>T Single submitter progressive myoclonic epilepsy type 3
- c.*3825T>A Single submitter progressive myoclonic epilepsy type 3
- c.*3826G>C Single submitter progressive myoclonic epilepsy type 3
- c.*3836T>G Single submitter progressive myoclonic epilepsy type 3
- c.*516T>C Single submitter progressive myoclonic epilepsy type 3
- c.*557A>T Single submitter progressive myoclonic epilepsy type 3
- c.*55C>T Single submitter progressive myoclonic epilepsy type 3
- c.*668T>G Single submitter progressive myoclonic epilepsy type 3
- c.*690G>A Single submitter progressive myoclonic epilepsy type 3
- c.*738C>G Single submitter progressive myoclonic epilepsy type 3
- c.*837A>G Single submitter progressive myoclonic epilepsy type 3
- c.*892C>T Single submitter progressive myoclonic epilepsy type 3
- p.Ala129Thr Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ala133Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ala155Thr Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ala237Gly Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ala41Gly Single submitter Inborn genetic diseases ⚠
- p.Ala79Thr Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg123Gln Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg123Leu Single submitter ⚠
- p.Arg12Pro Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg175Gly Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg181Gln Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg211Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg214Trp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Arg279Leu Single submitter KCTD7-related disorder ⚠
- p.Arg99Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asn143Ser Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asn208Ser Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asp106Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asp165Gly Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asp243Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Asp251Glu Single submitter ⚠
- p.Asp26Gly Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Cys204Tyr Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Cys226Ser Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gln140Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gln37Glu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gln47Arg Single submitter ⚠
- p.Gln47His Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu150Lys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Glu227Asp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Glu24Gly Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Glu48= Single submitter progressive myoclonic epilepsy type 3
- p.Glu51Asp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Glu51Val Single submitter progressive myoclonic epilepsy type 3
- p.Glu73Gly Single submitter ⚠
- p.Glu8Lys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly149Cys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly158Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly233Glu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly93Ala Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly93Asp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.His103Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.His274Arg Single submitter progressive myoclonic epilepsy type 3
- p.His61Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.His61Asp Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile173Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile173Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile264Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile286Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ile57Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu116Phe Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu167Phe Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu206Ile Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu206Val Single submitter Inborn genetic diseases ⚠
- p.Leu210Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu257Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu271Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Leu77Phe Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Lys127Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Lys269Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Lys278Glu Single submitter Inborn genetic diseases ⚠
- p.Met144Lys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Met144Val Single submitter Inborn genetic diseases ⚠
- p.Met18Lys Single submitter progressive myoclonic epilepsy type 3
- p.Met18Val Single submitter ⚠
- p.Met76Thr Single submitter Inborn genetic diseases ⚠
- p.Met76Val Single submitter progressive myoclonic epilepsy type 3
- p.Met80Val Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Phe110Leu Single submitter Inborn genetic diseases ⚠
- p.Phe212Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Phe49Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Phe62Ser Single submitter Inborn genetic diseases
- p.Pro161Ser Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro201Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro201His Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro201Thr Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro30Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro50Ala Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Pro54Ser Single submitter ⚠
- p.Ser217Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Ser21Thr Single submitter ⚠
- p.Ser253Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Thr258Asn Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Thr5Arg Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Thr75Ile Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Trp289Ter Single submitter progressive myoclonic epilepsy type 3
- p.Tyr131Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr162Phe Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Tyr202Cys Single submitter progressive myoclonic epilepsy type 3
- p.Tyr275Cys Single submitter ⚠
- p.Tyr282Cys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Tyr86Cys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Tyr95Cys Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val179Ala Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val190Ala Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val259Met Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val266Leu Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val52Phe Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Val53Ala Single submitter progressive myoclonic epilepsy type 3 ⚠
- p.Gly101Asp No assertion criteria progressive myoclonic epilepsy type 3 ⚠