TNK2 — 492 ClinVar variants
All ClinVar germline TNK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →
1 Pathogenic · 10 Conflicting · 43 Benign · 6 Benign/Likely benign · 111 Likely benign · 321 Uncertain significance
Full TNK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 282
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TNK2 p.Arg1055Cys Conflicting Single submitter
-
TNK2 p.Arg892His
Conflicting
Single submitter
Parkinson disease
- TNK2 p.Pro902His Conflicting Single submitter
- TNK2 p.Ser603Thr Conflicting Single submitter
- TNK2 p.Ser714Gly Conflicting Single submitter
-
TNK2 p.Val653Met
Conflicting
Single submitter
Parkinson disease
Predictors lean, ClinVar uncertain 236
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 236
- TNK2 p.Ala147Thr Uncertain significance Multiple submitters
- TNK2 p.Ala601Thr Uncertain significance Multiple submitters
- TNK2 p.Ala641Thr Uncertain significance Multiple submitters
- TNK2 p.Ala676Thr Uncertain significance Multiple submitters
- TNK2 p.Ala692Val Uncertain significance Multiple submitters
- TNK2 p.Ala716Thr Uncertain significance Multiple submitters
- TNK2 p.Arg191Pro Uncertain significance Multiple submitters
- TNK2 p.Arg375Ser Uncertain significance Multiple submitters
- TNK2 p.Arg505Gln Uncertain significance Multiple submitters
- TNK2 p.Arg505Trp Uncertain significance Multiple submitters
- TNK2 p.Arg553Gln Uncertain significance Multiple submitters
- TNK2 p.Arg629Gln Uncertain significance Multiple submitters
- TNK2 p.Arg821Trp Uncertain significance Multiple submitters
- TNK2 p.Arg854Gln Uncertain significance Multiple submitters
- TNK2 p.Arg886His Uncertain significance Multiple submitters
- TNK2 p.Arg948Gln Uncertain significance Multiple submitters
- TNK2 p.Arg948Trp Uncertain significance Multiple submitters
- TNK2 p.Asp750Asn Uncertain significance Multiple submitters
- TNK2 p.Gly122Ala Uncertain significance Multiple submitters
-
TNK2 p.Gly317Arg
Uncertain significance
Multiple submitters
TNK2-associated Epilepsy syndrome
- TNK2 p.Gly50Ser Uncertain significance Multiple submitters
- TNK2 p.Gly580Arg Uncertain significance Multiple submitters
- TNK2 p.Gly589Ser Uncertain significance Multiple submitters
- TNK2 p.Gly677Arg Uncertain significance Multiple submitters
- TNK2 p.Gly738Ser Uncertain significance Multiple submitters
- TNK2 p.Gly803Asp Uncertain significance Multiple submitters
- TNK2 p.Lys345Arg Uncertain significance Multiple submitters
- TNK2 p.Pro506His Uncertain significance Multiple submitters
- TNK2 p.Pro689Ser Uncertain significance Multiple submitters
- TNK2 p.Pro819Ser Uncertain significance Multiple submitters
- TNK2 p.Pro911Arg Uncertain significance Multiple submitters
-
TNK2 p.Ser537Ile
Uncertain significance
Multiple submitters
TNK2-related disorder
- TNK2 p.Ser567Leu Uncertain significance Multiple submitters
- TNK2 p.Thr955Ser Uncertain significance Multiple submitters
- TNK2 p.Val905Leu Uncertain significance Multiple submitters
- TNK2 p.Ala451Thr Uncertain significance Single submitter
- TNK2 p.Ala564Val Uncertain significance Single submitter
- TNK2 p.Ala568Val Uncertain significance Single submitter
- TNK2 p.Ala601Val Uncertain significance Single submitter
- TNK2 p.Ala605Val Uncertain significance Single submitter
- TNK2 p.Ala649Thr Uncertain significance Single submitter
- TNK2 p.Ala654Pro Uncertain significance Single submitter
- TNK2 p.Ala672Thr Uncertain significance Single submitter
- TNK2 p.Ala672Val Uncertain significance Single submitter
- TNK2 p.Ala676Val Uncertain significance Single submitter
- TNK2 p.Ala686Thr Uncertain significance Single submitter
- TNK2 p.Ala716Glu Uncertain significance Single submitter
- TNK2 p.Ala719Val Uncertain significance Single submitter
- TNK2 p.Ala724Thr Uncertain significance Single submitter
- TNK2 p.Ala724Val Uncertain significance Single submitter
- TNK2 p.Ala837Val Uncertain significance Single submitter
- TNK2 p.Ala843Thr Uncertain significance Single submitter
- TNK2 p.Ala918Thr Uncertain significance Single submitter
- TNK2 p.Ala919Thr Uncertain significance Single submitter
- TNK2 p.Ala970Val Uncertain significance Single submitter
-
TNK2 p.Ala994Val
Uncertain significance
Single submitter
Parkinson disease
- TNK2 p.Arg176Trp Uncertain significance Single submitter
- TNK2 p.Arg218Cys Uncertain significance Single submitter
- TNK2 p.Arg251Cys Uncertain significance Single submitter
- TNK2 p.Arg349Gln Uncertain significance Single submitter
- TNK2 p.Arg352Gln Uncertain significance Single submitter
- TNK2 p.Arg382Trp Uncertain significance Single submitter
- TNK2 p.Arg419Ser Uncertain significance Single submitter
- TNK2 p.Arg473His Uncertain significance Single submitter
- TNK2 p.Arg53Trp Uncertain significance Single submitter
- TNK2 p.Arg559Gln Uncertain significance Single submitter
- TNK2 p.Arg569Trp Uncertain significance Single submitter
- TNK2 p.Arg57Gln Uncertain significance Single submitter
- TNK2 p.Arg58Trp Uncertain significance Single submitter
- TNK2 p.Arg598Gln Uncertain significance Single submitter
- TNK2 p.Arg625Trp Uncertain significance Single submitter
- TNK2 p.Arg629Trp Uncertain significance Single submitter
- TNK2 p.Arg642Cys Uncertain significance Single submitter
- TNK2 p.Arg693Trp Uncertain significance Single submitter
- TNK2 p.Arg766His Uncertain significance Single submitter
- TNK2 p.Arg766Ser Uncertain significance Single submitter
- TNK2 p.Arg792Gln Uncertain significance Single submitter
- TNK2 p.Arg792Leu Uncertain significance Single submitter
- TNK2 p.Arg792Trp Uncertain significance Single submitter
- TNK2 p.Arg821Gln Uncertain significance Single submitter
- TNK2 p.Arg84Gln Uncertain significance Single submitter
- TNK2 p.Arg854Trp Uncertain significance Single submitter
- TNK2 p.Arg864Gln Uncertain significance Single submitter
- TNK2 p.Arg864Gly Uncertain significance Single submitter
- TNK2 p.Arg864Trp Uncertain significance Single submitter
- TNK2 p.Arg880Gln Uncertain significance Single submitter
- TNK2 p.Arg886Cys Uncertain significance Single submitter
- TNK2 p.Arg892Cys Uncertain significance Single submitter
- TNK2 p.Arg925Gln Uncertain significance Single submitter
- TNK2 p.Arg957Gln Uncertain significance Single submitter
- TNK2 p.Arg957Trp Uncertain significance Single submitter
- TNK2 p.Arg972Gln Uncertain significance Single submitter
- TNK2 p.Arg972Trp Uncertain significance Single submitter
- TNK2 p.Arg99Gln Uncertain significance Single submitter
- TNK2 p.Asp539Gly Uncertain significance Single submitter
- TNK2 p.Asp616Asn Uncertain significance Single submitter
- TNK2 p.Asp865Asn Uncertain significance Single submitter
- TNK2 p.Asp966Asn Uncertain significance Single submitter
- TNK2 p.Cys600Arg Uncertain significance Single submitter
- TNK2 p.Gln1039Lys Uncertain significance Single submitter
- TNK2 p.Gln115His Uncertain significance Single submitter
- TNK2 p.Gln680His Uncertain significance Single submitter
- TNK2 p.Gln726Arg Uncertain significance Single submitter
- TNK2 p.Gln727Arg Uncertain significance Single submitter
- TNK2 p.Gln783Leu Uncertain significance Single submitter
- TNK2 p.Gln846His Uncertain significance Single submitter
- TNK2 p.Glu346Asp Uncertain significance Single submitter
- TNK2 p.Glu500Gly Uncertain significance Single submitter
- TNK2 p.Glu582Gln Uncertain significance Single submitter
- TNK2 p.Glu720Asp Uncertain significance Single submitter
- TNK2 p.Glu778Lys Uncertain significance Single submitter
- TNK2 p.Glu780Gly Uncertain significance Single submitter
- TNK2 p.Glu797Asp Uncertain significance Single submitter
- TNK2 p.Glu879Gln Uncertain significance Single submitter
- TNK2 p.Glu879Gly Uncertain significance Single submitter
- TNK2 p.Glu898Lys Uncertain significance Single submitter
- TNK2 p.Glu899Asp Uncertain significance Single submitter
- TNK2 p.Gly1017Glu Uncertain significance Single submitter
- TNK2 p.Gly194Arg Uncertain significance Single submitter
- TNK2 p.Gly194Glu Uncertain significance Single submitter
- TNK2 p.Gly333Ser Uncertain significance Single submitter
- TNK2 p.Gly511Glu Uncertain significance Single submitter
- TNK2 p.Gly551Asp Uncertain significance Single submitter
- TNK2 p.Gly709Glu Uncertain significance Single submitter
- TNK2 p.Gly709Trp Uncertain significance Single submitter
- TNK2 p.Gly747Ala Uncertain significance Single submitter
- TNK2 p.Gly747Val Uncertain significance Single submitter
- TNK2 p.Gly777Ser Uncertain significance Single submitter
- TNK2 p.Gly852Ser Uncertain significance Single submitter
- TNK2 p.Gly852Val Uncertain significance Single submitter
- TNK2 p.Gly856Asp Uncertain significance Single submitter
- TNK2 p.His1053Leu Uncertain significance Single submitter
- TNK2 p.His223Leu Uncertain significance Single submitter
- TNK2 p.His370Gln Uncertain significance Single submitter
- TNK2 p.His509Leu Uncertain significance Single submitter
- TNK2 p.Ile121Thr Uncertain significance Single submitter
- TNK2 p.Ile121Val Uncertain significance Single submitter
- TNK2 p.Ile407Val Uncertain significance Single submitter
- TNK2 p.Ile760Met Uncertain significance Single submitter
- TNK2 p.Leu1030Met Uncertain significance Single submitter
- TNK2 p.Leu165Val Uncertain significance Single submitter
- TNK2 p.Leu229Arg Uncertain significance Single submitter
- TNK2 p.Leu265Val Uncertain significance Single submitter
- TNK2 p.Leu458Val Uncertain significance Single submitter
- TNK2 p.Leu543Ser Uncertain significance Single submitter
- TNK2 p.Leu563Pro Uncertain significance Single submitter
- TNK2 p.Leu669Phe Uncertain significance Single submitter
- TNK2 p.Leu698Val Uncertain significance Single submitter
- TNK2 p.Leu704Phe Uncertain significance Single submitter
- TNK2 p.Leu799Val Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- TNK2 p.Asn942Asp Uncertain significance Multiple submitters
- TNK2 p.Ala147Val Uncertain significance Single submitter
- TNK2 p.Arg1021Trp Uncertain significance Single submitter
- TNK2 p.Arg127Cys Uncertain significance Single submitter
- TNK2 p.Arg141Cys Uncertain significance Single submitter
- TNK2 p.Arg191His Uncertain significance Single submitter
- TNK2 p.Arg25Trp Uncertain significance Single submitter
- TNK2 p.Arg757Gln Uncertain significance Single submitter
- TNK2 p.Arg757Trp Uncertain significance Single submitter
- TNK2 p.Arg763Trp Conflicting Single submitter
- TNK2 p.Arg796Gln Uncertain significance Single submitter
- TNK2 p.Arg796Trp Uncertain significance Single submitter
- TNK2 p.Asn422Lys Uncertain significance Single submitter
- TNK2 p.Asp29Asn Uncertain significance Single submitter
- TNK2 p.Asp469Asn Uncertain significance Single submitter
- TNK2 p.Asp483Glu Uncertain significance Single submitter
- TNK2 p.Asp495Asn Uncertain significance Single submitter
- TNK2 p.Cys729Phe Uncertain significance Single submitter
- TNK2 p.Cys729Tyr Uncertain significance Single submitter
- TNK2 p.Gln21His Uncertain significance Single submitter
- TNK2 p.Glu16Gln Uncertain significance Single submitter
- TNK2 p.Glu329Asp Uncertain significance Single submitter
- TNK2 p.Glu591Lys Uncertain significance Single submitter
- TNK2 p.Ile463Val Uncertain significance Single submitter
- TNK2 p.Lys935Asn Uncertain significance Single submitter
- TNK2 p.Lys976Asn Benign Single submitter
- TNK2 p.Met171Thr Uncertain significance Single submitter
- TNK2 p.Met491Val Uncertain significance Single submitter
- TNK2 p.Phe1033Leu Conflicting Single submitter
- TNK2 p.Phe23Leu Uncertain significance Single submitter
- TNK2 p.Pro199Leu Uncertain significance Single submitter
- TNK2 p.Pro472Ser Uncertain significance Single submitter
- TNK2 p.Pro628Thr Uncertain significance Single submitter
- TNK2 p.Pro647Leu Uncertain significance Single submitter
- TNK2 p.Ser939Phe Uncertain significance Single submitter
- TNK2 p.Thr718Ile Uncertain significance Single submitter
- TNK2 p.Tyr874Cys Uncertain significance Single submitter
- TNK2 p.Val139Ala Uncertain significance Single submitter
-
TNK2 p.Val363Ala
Uncertain significance
Single submitter
Parkinson disease
- TNK2 p.Val924Met Uncertain significance Single submitter
All TNK2 variants
Pathogenic 1
- p.Arg352Trp No assertion criteria Epileptic encephalopathy
Conflicting classifications of pathogenicity 10
- c.-6G>A Single submitter
- p.Arg1055Cys Single submitter ⚠
- p.Arg763Trp Single submitter ⚠
- p.Arg892His Single submitter Parkinson disease ⚠
- p.Gly135= Single submitter
- p.Phe1033Leu Single submitter ⚠
- p.Pro902His Single submitter ⚠
- p.Ser603Thr Single submitter ⚠
- p.Ser714Gly Single submitter ⚠
- p.Val653Met Single submitter Parkinson disease ⚠
Benign 43
- c.1589-7A>G Multiple submitters
- c.-18-6C>T Multiple submitters
- p.Ala581Pro Multiple submitters
- p.Ala788= Multiple submitters
- p.Arg1055His Multiple submitters
- p.Arg305= Multiple submitters
- p.Arg99Trp Multiple submitters
- p.Asp28= Multiple submitters
- p.Gly488= Multiple submitters
- p.Leu117= Multiple submitters
- p.Leu552= Multiple submitters
- p.Leu771= Multiple submitters
- p.Phe588= Multiple submitters
- p.Pro599Ser Multiple submitters
- p.Pro705= Multiple submitters
- p.Pro740Leu Multiple submitters
- p.Ser15= Multiple submitters
- c.1014+12G>A Single submitter
- c.609+16G>A Single submitter
- c.887+20A>G Single submitter
- c.-18-6740_-18-6732dup Single submitter
- c.-18-7C>T Single submitter
- p.Ala276= Single submitter
- p.Ala564= Single submitter
- p.Ala568= Single submitter
- p.Arg693Gln Single submitter
- p.Asn31= Single submitter
- p.Asn335= Single submitter
- p.Glu346= Single submitter
- p.Ile49= Single submitter
- p.Leu340= Single submitter
- p.Lys976Asn Single submitter ⚠
- p.Pro493= Single submitter
- p.Pro518= Single submitter
- p.Pro746= Single submitter
- p.Ser311= Single submitter
- p.Ser537= Single submitter
- p.Ser545= Single submitter
- p.Ser603= Single submitter
- p.Thr624= Single submitter
- p.Thr718= Single submitter
- p.Tyr40= Single submitter
- p.Arg256Cys No assertion criteria Abnormality of neuronal migration
Benign/Likely benign 6
- p.Ile343= Multiple submitters
- p.Leu487= Multiple submitters
- p.Leu510Val Multiple submitters
- p.Pro619= Multiple submitters
- p.Pro736= Multiple submitters
- p.Val905Met Multiple submitters
Likely benign 111
- c.-18-6805C>T Multiple submitters
- p.Asp281= Multiple submitters
- p.Glu720= Multiple submitters
- p.Pro973= Multiple submitters
- p.Tyr284= Multiple submitters
- c.1014+18G>A Single submitter
- c.1014+8C>T Single submitter
- c.1162-20C>T Single submitter
- c.1257-11C>T Single submitter
- c.1257-6G>A Single submitter
- c.1451+19T>C Single submitter
- c.1452-5C>G Single submitter
- c.1452-7C>T Single submitter
- c.1543+8C>T Single submitter
- c.1543+9C>T Single submitter
- c.1544-18G>A Single submitter
- c.1544-19C>T Single submitter
- c.1588+17C>T Single submitter
- c.234+14dup Single submitter
- c.234+18_234+29del Single submitter
- c.2937+11A>T Single submitter
- c.2937+17G>C Single submitter
- c.3034-12C>G Single submitter
- c.3034-17G>A Single submitter
- c.3034-17G>T Single submitter
- c.3034-18C>T Single submitter
- c.456+8C>G Single submitter
- c.609+15C>A Single submitter
- c.610-11C>T Single submitter
- c.888-7C>T Single submitter
- c.-18-16A>G Single submitter
- c.-18-6629A>G Single submitter
- c.-18-6633G>A Single submitter
- c.-7C>T Single submitter
- p.Ala1040= Single submitter
- p.Ala447= Single submitter
- p.Ala672= Single submitter
- p.Ala676= Single submitter
- p.Ala87= Single submitter
- p.Arg216Gln Single submitter
- p.Arg553Trp Single submitter
- p.Arg763Gln Single submitter
- p.Arg766Cys Single submitter
- p.Arg796= Single submitter
- p.Asn362= Single submitter
- p.Asn441= Single submitter
- p.Asp146= Single submitter
- p.Asp541Val Single submitter
- p.Asp616= Single submitter
- p.Glu617Lys Single submitter
- p.Glu690= Single submitter
- p.Gly580= Single submitter
- p.Gly709= Single submitter
- p.Gly738= Single submitter
- p.Leu1015= Single submitter
- p.Leu1020= Single submitter
- p.Leu184= Single submitter
- p.Leu277= Single submitter
- p.Leu597Pro Single submitter
- p.Leu604Gln Single submitter
- p.Leu669= Single submitter
- p.Leu860= Single submitter
- p.Leu891= Single submitter
- p.Lys67= Single submitter
- p.Phe294= Single submitter
- p.Phe316= Single submitter
- p.Pro1022= Single submitter
- p.Pro103= Single submitter
- p.Pro148= Single submitter
- p.Pro402= Single submitter
- p.Pro494= Single submitter
- p.Pro507= Single submitter
- p.Pro522= Single submitter
- p.Pro558= Single submitter
- p.Pro592= Single submitter
- p.Pro595= Single submitter
- p.Pro647= Single submitter
- p.Pro694= Single submitter
- p.Pro712= Single submitter
- p.Pro776= Single submitter
- p.Pro902= Single submitter
- p.Pro951= Single submitter
- p.Pro952= Single submitter
- p.Pro952Leu Single submitter
- p.Ser183= Single submitter
- p.Ser450= Single submitter
- p.Ser498= Single submitter
- p.Ser743= Single submitter
- p.Ser804= Single submitter
- p.Ser896= Single submitter
- p.Thr198= Single submitter
- p.Thr584= Single submitter
- p.Thr634= Single submitter
- p.Thr765= Single submitter
- p.Tyr193= Single submitter
- p.Tyr326= Single submitter
- p.Tyr685= Single submitter
- p.Val63= Single submitter
- p.Val653= Single submitter
- p.Val688= Single submitter
- c.-18-3798G>C No assertion criteria TNK2-related disorder
- c.-18-3821G>A No assertion criteria TNK2-related disorder
- c.-18-3877G>A No assertion criteria TNK2-related disorder
- p.Asp587= No assertion criteria TNK2-related disorder
- p.Gly512= No assertion criteria TNK2-related disorder
- p.Gly560= No assertion criteria TNK2-related disorder
- p.Leu496= No assertion criteria TNK2-related disorder
- p.Leu607= No assertion criteria TNK2-related disorder
- p.Pro795= No assertion criteria TNK2-related disorder
- p.Pro926= No assertion criteria TNK2-related disorder
- p.Ser102Leu No assertion criteria TNK2-related disorder
Uncertain significance 321
Showing the top 300 by review status; the full set is in the sitemap.
- c.1162-3C>T Multiple submitters
- c.-18-6750C>T Multiple submitters
- c.-18-6791C>G Multiple submitters
- c.-18-6794C>A Multiple submitters
- p.Ala147Thr Multiple submitters ⚠
- p.Ala601Thr Multiple submitters ⚠
- p.Ala641Thr Multiple submitters ⚠
- p.Ala676Thr Multiple submitters ⚠
- p.Ala692Val Multiple submitters ⚠
- p.Ala716Thr Multiple submitters ⚠
- p.Arg191Pro Multiple submitters ⚠
- p.Arg375Ser Multiple submitters ⚠
- p.Arg505Gln Multiple submitters ⚠
- p.Arg505Trp Multiple submitters ⚠
- p.Arg553Gln Multiple submitters ⚠
- p.Arg629Gln Multiple submitters ⚠
- p.Arg821Trp Multiple submitters ⚠
- p.Arg854Gln Multiple submitters ⚠
- p.Arg886His Multiple submitters ⚠
- p.Arg948Gln Multiple submitters ⚠
- p.Arg948Trp Multiple submitters ⚠
- p.Asn942Asp Multiple submitters ⚠
- p.Asp587Asn Multiple submitters
- p.Asp750Asn Multiple submitters ⚠
- p.Gly122Ala Multiple submitters ⚠
- p.Gly317Arg Multiple submitters TNK2-associated Epilepsy syndrome ⚠
- p.Gly50Ser Multiple submitters ⚠
- p.Gly580Arg Multiple submitters ⚠
- p.Gly589Ser Multiple submitters ⚠
- p.Gly677Arg Multiple submitters ⚠
- p.Gly738Ser Multiple submitters ⚠
- p.Gly803Asp Multiple submitters ⚠
- p.Lys345Arg Multiple submitters ⚠
- p.Pro506His Multiple submitters ⚠
- p.Pro689Ser Multiple submitters ⚠
- p.Pro819Ser Multiple submitters ⚠
- p.Pro857Ser Multiple submitters
- p.Pro911Arg Multiple submitters ⚠
- p.Ser537Ile Multiple submitters TNK2-related disorder ⚠
- p.Ser567Leu Multiple submitters ⚠
- p.Thr528Ser Multiple submitters
- p.Thr955Ser Multiple submitters ⚠
- p.Val905Leu Multiple submitters ⚠
- c.1015-2A>G Single submitter
- c.1452-4A>C Single submitter
- c.14G>A Single submitter
- c.-16G>C Single submitter
- c.-18-6636A>T Single submitter
- c.-18-6656G>T Single submitter
- c.-18-6669C>A Single submitter
- c.-18-6678G>A Single submitter
- c.-18-6687G>A Single submitter
- c.-18-6758C>T Single submitter
- c.-18-6765G>C Single submitter
- c.-18-6781G>T Single submitter
- c.-18-6782A>G Single submitter
- c.-18-6785C>T Single submitter
- c.-18-6791C>A Single submitter
- c.-18-6795C>T Single submitter
- c.-18-6800C>A Single submitter
- p.Ala147Val Single submitter ⚠
- p.Ala451Thr Single submitter ⚠
- p.Ala564Val Single submitter ⚠
- p.Ala568Val Single submitter ⚠
- p.Ala601Val Single submitter ⚠
- p.Ala605Val Single submitter ⚠
- p.Ala649Thr Single submitter ⚠
- p.Ala654Pro Single submitter ⚠
- p.Ala672Thr Single submitter ⚠
- p.Ala672Val Single submitter ⚠
- p.Ala676Val Single submitter ⚠
- p.Ala686Thr Single submitter ⚠
- p.Ala716Glu Single submitter ⚠
- p.Ala719Val Single submitter ⚠
- p.Ala724Thr Single submitter ⚠
- p.Ala724Val Single submitter ⚠
- p.Ala837Val Single submitter ⚠
- p.Ala843Thr Single submitter ⚠
- p.Ala918Thr Single submitter ⚠
- p.Ala919Thr Single submitter ⚠
- p.Ala970Val Single submitter ⚠
- p.Ala994Val Single submitter Parkinson disease ⚠
- p.Arg1021Trp Single submitter ⚠
- p.Arg127Cys Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg176Trp Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg251Cys Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg263_Asp264insAsnLeuLeuLeuAlaThrArg Single submitter
- p.Arg27Gln Single submitter
- p.Arg290Cys Single submitter
- p.Arg349Gln Single submitter ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg382Trp Single submitter ⚠
- p.Arg394Trp Single submitter
- p.Arg419Ser Single submitter ⚠
- p.Arg473His Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg569Trp Single submitter ⚠
- p.Arg57Gln Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Arg598Gln Single submitter ⚠
- p.Arg625Trp Single submitter ⚠
- p.Arg629Trp Single submitter ⚠
- p.Arg642Cys Single submitter ⚠
- p.Arg693Trp Single submitter ⚠
- p.Arg757Gln Single submitter ⚠
- p.Arg757Trp Single submitter ⚠
- p.Arg766His Single submitter ⚠
- p.Arg766Ser Single submitter ⚠
- p.Arg792Gln Single submitter ⚠
- p.Arg792Leu Single submitter ⚠
- p.Arg792Trp Single submitter ⚠
- p.Arg796Gln Single submitter ⚠
- p.Arg796Trp Single submitter ⚠
- p.Arg821Gln Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Arg854Trp Single submitter ⚠
- p.Arg864Gln Single submitter ⚠
- p.Arg864Gly Single submitter ⚠
- p.Arg864Trp Single submitter ⚠
- p.Arg880Gln Single submitter ⚠
- p.Arg886Cys Single submitter ⚠
- p.Arg892Cys Single submitter ⚠
- p.Arg925Gln Single submitter ⚠
- p.Arg957Gln Single submitter ⚠
- p.Arg957Trp Single submitter ⚠
- p.Arg972Gln Single submitter ⚠
- p.Arg972Trp Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn422Lys Single submitter ⚠
- p.Asp282Asn Single submitter
- p.Asp29Asn Single submitter ⚠
- p.Asp469Asn Single submitter ⚠
- p.Asp483Glu Single submitter ⚠
- p.Asp495Asn Single submitter ⚠
- p.Asp495fs Single submitter
- p.Asp539Gly Single submitter ⚠
- p.Asp616Asn Single submitter ⚠
- p.Asp656Tyr Single submitter
- p.Asp865Asn Single submitter ⚠
- p.Asp966Asn Single submitter ⚠
- p.Cys600Arg Single submitter ⚠
- p.Cys729Phe Single submitter ⚠
- p.Cys729Tyr Single submitter ⚠
- p.Gln1008Ter Single submitter developmental and epileptic encephalopathy
- p.Gln1039Lys Single submitter ⚠
- p.Gln115His Single submitter ⚠
- p.Gln21His Single submitter ⚠
- p.Gln508fs Single submitter
- p.Gln606Ter Single submitter
- p.Gln680His Single submitter ⚠
- p.Gln726Arg Single submitter ⚠
- p.Gln727Arg Single submitter ⚠
- p.Gln783Leu Single submitter ⚠
- p.Gln846His Single submitter ⚠
- p.Glu16Gln Single submitter ⚠
- p.Glu329Asp Single submitter ⚠
- p.Glu346Asp Single submitter ⚠
- p.Glu500Gly Single submitter ⚠
- p.Glu582Gln Single submitter ⚠
- p.Glu591Lys Single submitter ⚠
- p.Glu720Asp Single submitter ⚠
- p.Glu778Lys Single submitter ⚠
- p.Glu780Gly Single submitter ⚠
- p.Glu797Asp Single submitter ⚠
- p.Glu879Gln Single submitter ⚠
- p.Glu879Gly Single submitter ⚠
- p.Glu879Lys Single submitter
- p.Glu898Lys Single submitter ⚠
- p.Glu899Asp Single submitter ⚠
- p.Gly1017Glu Single submitter ⚠
- p.Gly133fs Single submitter
- p.Gly194Arg Single submitter ⚠
- p.Gly194Glu Single submitter ⚠
- p.Gly333Ser Single submitter ⚠
- p.Gly511Glu Single submitter ⚠
- p.Gly551Asp Single submitter ⚠
- p.Gly556Asp Single submitter
- p.Gly709Glu Single submitter ⚠
- p.Gly709Trp Single submitter ⚠
- p.Gly710fs Single submitter
- p.Gly747Ala Single submitter ⚠
- p.Gly747Val Single submitter ⚠
- p.Gly777Ser Single submitter ⚠
- p.Gly852Ser Single submitter ⚠
- p.Gly852Val Single submitter ⚠
- p.Gly856Asp Single submitter ⚠
- p.His1053Leu Single submitter ⚠
- p.His223Leu Single submitter ⚠
- p.His289Arg Single submitter
- p.His370Gln Single submitter ⚠
- p.His509Leu Single submitter ⚠
- p.His873Tyr Single submitter
- p.Ile121Thr Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Ile407Val Single submitter ⚠
- p.Ile463Val Single submitter ⚠
- p.Ile760Met Single submitter ⚠
- p.Leu1030Met Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu229Arg Single submitter ⚠
- p.Leu265Val Single submitter ⚠
- p.Leu458Val Single submitter ⚠
- p.Leu496Arg Single submitter
- p.Leu543Ser Single submitter ⚠
- p.Leu563Pro Single submitter ⚠
- p.Leu669Phe Single submitter ⚠
- p.Leu698Val Single submitter ⚠
- p.Leu704Phe Single submitter ⚠
- p.Leu799Val Single submitter ⚠
- p.Leu818Pro Single submitter ⚠
- p.Leu884Arg Single submitter
- p.Leu903Met Single submitter ⚠
- p.Lys161Gln Single submitter ⚠
- p.Lys342Glu Single submitter ⚠
- p.Lys345Glu Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Lys867Asn Single submitter ⚠
- p.Lys868Arg Single submitter ⚠
- p.Lys935Asn Single submitter ⚠
- p.Met171Thr Single submitter ⚠
- p.Met171Val Single submitter ⚠
- p.Met491Val Single submitter ⚠
- p.Met609Ile Single submitter ⚠
- p.Met609Lys Single submitter ⚠
- p.Met983Leu Single submitter ⚠
- p.Phe224Ile Single submitter ⚠
- p.Phe23Leu Single submitter ⚠
- p.Phe438Leu Single submitter ⚠
- p.Pro113Leu Single submitter ⚠
- p.Pro148His Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro330Arg Single submitter ⚠
- p.Pro351Ser Single submitter ⚠
- p.Pro472Ser Single submitter ⚠
- p.Pro493His Single submitter ⚠
- p.Pro506Ser Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro507Ser Single submitter ⚠
- p.Pro522Ser Single submitter
- p.Pro524Thr Single submitter
- p.Pro542Ser Single submitter ⚠
- p.Pro571Arg Single submitter ⚠
- p.Pro571Leu Single submitter ⚠
- p.Pro595Gln Single submitter ⚠
- p.Pro595Leu Single submitter ⚠
- p.Pro619Arg Single submitter ⚠
- p.Pro628Thr Single submitter ⚠
- p.Pro633Ser Single submitter ⚠
- p.Pro643Leu Single submitter
- p.Pro647Leu Single submitter ⚠
- p.Pro694Leu Single submitter ⚠
- p.Pro695Ser Single submitter ⚠
- p.Pro696His Single submitter ⚠
- p.Pro696Ser Single submitter ⚠
- p.Pro697Ala Single submitter ⚠
- p.Pro712Leu Single submitter ⚠
- p.Pro713Arg Single submitter ⚠
- p.Pro713Leu Single submitter ⚠
- p.Pro713Ser Single submitter ⚠
- p.Pro736Arg Single submitter ⚠
- p.Pro744Leu Single submitter ⚠
- p.Pro746Leu Single submitter ⚠
- p.Pro759Ala Single submitter
- p.Pro764Leu Single submitter ⚠
- p.Pro787Leu Single submitter ⚠
- p.Pro795Leu Single submitter ⚠
- p.Pro817Leu Single submitter ⚠
- p.Pro853Leu Single submitter ⚠
- p.Pro900Thr Single submitter ⚠
- p.Pro902Arg Single submitter ⚠
- p.Pro904Thr Single submitter ⚠
- p.Pro910Leu Single submitter ⚠
- p.Pro912Leu Single submitter ⚠
- p.Pro91Leu Single submitter ⚠
- p.Pro920Ser Single submitter ⚠
- p.Pro934Leu Single submitter ⚠
- p.Pro934Ser Single submitter ⚠
- p.Pro951Ser Single submitter ⚠
- p.Ser116Ile Single submitter ⚠
- p.Ser455Thr Single submitter ⚠
- p.Ser579Arg Single submitter ⚠
- p.Ser613Cys Single submitter ⚠
- p.Ser715Phe Single submitter ⚠
- p.Ser772Pro Single submitter ⚠
- p.Ser939del Single submitter
- p.Ser939Phe Single submitter ⚠
- p.Ser943Asn Single submitter ⚠
- p.Thr152Met Single submitter ⚠
- p.Thr325Ser Single submitter ⚠
- p.Thr624Met Single submitter ⚠
- p.Thr634Met Single submitter ⚠
- p.Thr718Ile Single submitter ⚠
- p.Thr765Met Single submitter ⚠
- p.Thr806Ser Single submitter ⚠
- p.Thr844Asn Single submitter ⚠