TLK2 — 303 ClinVar variants
All ClinVar germline TLK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
41 Pathogenic · 9 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 8 Conflicting · 2 Benign · 38 Likely benign · 164 Uncertain significance
Full TLK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TLK2 p.Arg339Gln
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Arg339Trp
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Arg546Gln
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Gly297Asp
Conflicting
Single submitter
TLK2-related disorder
-
TLK2 p.Ile587Arg
Conflicting
Single submitter
Inborn genetic diseases
-
TLK2 p.Ser517Leu
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
TLK2 p.Arg698Ter
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Arg724Ter
Conflicting
Single submitter
intellectual disability, autosomal dominant 57
Predictors lean, ClinVar uncertain 107
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TLK2 p.Ala399Thr
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 57
-
TLK2 p.His193Leu
Uncertain significance
Multiple submitters
TLK2-related disorder
-
TLK2 p.Ile504Arg
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 57
-
TLK2 p.Thr98Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TLK2 p.Tyr129Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TLK2 p.Ala135Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Ala139Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Ala349Thr Uncertain significance Single submitter
-
TLK2 p.Ala370Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Ala545Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Arg123Gln Uncertain significance Single submitter
- TLK2 p.Arg247Gln Uncertain significance Single submitter
-
TLK2 p.Arg265Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Arg339Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Arg407Gly Uncertain significance Single submitter
-
TLK2 p.Arg410Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Arg421Lys Uncertain significance Single submitter
-
TLK2 p.Arg421Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Arg421Ser Uncertain significance Single submitter
- TLK2 p.Arg439Lys Uncertain significance Single submitter
-
TLK2 p.Arg503Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Arg546Gly Uncertain significance Single submitter
- TLK2 p.Arg63Trp Uncertain significance Single submitter
-
TLK2 p.Arg656Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Arg697Gly Uncertain significance Single submitter
-
TLK2 p.Arg707Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Asn118Ser Uncertain significance Single submitter
-
TLK2 p.Asn358Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Asn372Ser Uncertain significance Single submitter
-
TLK2 p.Asn437Ser
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Asn604Ser Uncertain significance Single submitter
- TLK2 p.Asp459Tyr Uncertain significance Single submitter
- TLK2 p.Asp500Gly Uncertain significance Single submitter
- TLK2 p.Asp591Gly Uncertain significance Single submitter
-
TLK2 p.Cys195Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Cys699Arg Uncertain significance Single submitter
-
TLK2 p.Gln179Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Gln711Glu Uncertain significance Single submitter
-
TLK2 p.Gln711His
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Glu334Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Glu3Asp Uncertain significance Single submitter
- TLK2 p.Glu406Gln Uncertain significance Single submitter
-
TLK2 p.Glu425Lys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Glu523Gly Uncertain significance Single submitter
- TLK2 p.Glu705Gln Uncertain significance Single submitter
-
TLK2 p.Gly297Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Gly655Ala
Uncertain significance
Single submitter
TLK2-related disorder
- TLK2 p.His193Tyr Uncertain significance Single submitter
- TLK2 p.His415Gln Uncertain significance Single submitter
- TLK2 p.His423Arg Uncertain significance Single submitter
- TLK2 p.His444Tyr Uncertain significance Single submitter
- TLK2 p.His486Gln Uncertain significance Single submitter
- TLK2 p.Ile201Phe Uncertain significance Single submitter
-
TLK2 p.Ile495Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Ile504Met
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Ile552Thr Uncertain significance Single submitter
-
TLK2 p.Ile567Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Ile597Ser Uncertain significance Single submitter
- TLK2 p.Leu238Ser Uncertain significance Single submitter
- TLK2 p.Leu294Ser Uncertain significance Single submitter
- TLK2 p.Leu405Met Uncertain significance Single submitter
-
TLK2 p.Leu577Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Lys396Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Lys55Arg Uncertain significance Single submitter
-
TLK2 p.Lys635Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Lys76Gln Uncertain significance Single submitter
- TLK2 p.Met150Leu Uncertain significance Single submitter
-
TLK2 p.Met255Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Met290Ile
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Phe175Val Uncertain significance Single submitter
-
TLK2 p.Phe458Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Pro112Leu Uncertain significance Single submitter
-
TLK2 p.Pro121Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Pro347Ser Uncertain significance Single submitter
-
TLK2 p.Pro355Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Pro573Ala Uncertain significance Single submitter
- TLK2 p.Pro573Leu Uncertain significance Single submitter
-
TLK2 p.Pro658Leu
Uncertain significance
Single submitter
TLK2-related disorder
- TLK2 p.Pro686Leu Uncertain significance Single submitter
- TLK2 p.Pro721Thr Uncertain significance Single submitter
-
TLK2 p.Ser184Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Ser223Asn Uncertain significance Single submitter
- TLK2 p.Ser32Gly Uncertain significance Single submitter
- TLK2 p.Ser452Arg Uncertain significance Single submitter
- TLK2 p.Ser452Asn Uncertain significance Single submitter
- TLK2 p.Ser595Trp Uncertain significance Single submitter
- TLK2 p.Ser613Ala Uncertain significance Single submitter
-
TLK2 p.Ser637Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Thr148Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Thr148Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Thr186Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Thr435Ala Uncertain significance Single submitter
-
TLK2 p.Thr461Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Thr590Arg Uncertain significance Single submitter
- TLK2 p.Thr98Asn Uncertain significance Single submitter
-
TLK2 p.Tyr569Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Tyr619Cys Uncertain significance Single submitter
- TLK2 p.Tyr70Cys Uncertain significance Single submitter
-
TLK2 p.Val107Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Val124Ala Uncertain significance Single submitter
- TLK2 p.Val152Glu Uncertain significance Single submitter
-
TLK2 p.Val42Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Val629Ala Uncertain significance Single submitter
- TLK2 p.Val642Met Uncertain significance Single submitter
- TLK2 p.Val710Asp Uncertain significance Single submitter
-
TLK2 p.Asp570Asn
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 57
-
TLK2 p.Leu577Val
Uncertain significance
No assertion criteria
TLK2-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
-
TLK2 p.Arg19Thr
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 57
-
TLK2 p.Arg724Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TLK2 p.Arg345Gln Uncertain significance Single submitter
-
TLK2 p.Arg698Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Asn58Lys Uncertain significance Single submitter
-
TLK2 p.Asp244Glu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
-
TLK2 p.Asp607Asn
Likely pathogenic
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Gln663His Uncertain significance Single submitter
- TLK2 p.Glu397Asp Uncertain significance Single submitter
- TLK2 p.Glu671Asp Uncertain significance Single submitter
- TLK2 p.Gly574Asp Uncertain significance Single submitter
-
TLK2 p.Ile249Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Ile696Val Uncertain significance Single submitter
-
TLK2 p.Leu245Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TLK2 p.Lys55Glu
Uncertain significance
Single submitter
intellectual disability
-
TLK2 p.Lys657Asn
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 57
- TLK2 p.Met550Thr Uncertain significance Single submitter
-
TLK2 p.Pro434Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Pro717Thr Uncertain significance Single submitter
- TLK2 p.Ser103Arg Uncertain significance Single submitter
-
TLK2 p.Ser7Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TLK2 p.Thr435Pro Uncertain significance Single submitter
-
TLK2 p.Arg12Trp
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 57
All TLK2 variants
Pathogenic 41
- p.Arg123Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Arg262Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Arg61Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Arg697Ter Multiple submitters
- p.Gln280fs Multiple submitters
- c.1122-167A>G Single submitter intellectual disability, autosomal dominant 57
- c.1187_1188+18del Single submitter intellectual disability, autosomal dominant 57
- c.1189-2A>G Single submitter Inborn genetic diseases
- c.1286+1G>A Single submitter intellectual disability, autosomal dominant 57
- c.1369-2A>G Single submitter
- c.154-1G>A Single submitter intellectual disability, autosomal dominant 57
- c.2079+1G>A Single submitter intellectual disability, autosomal dominant 57
- c.267+1G>A Single submitter intellectual disability, autosomal dominant 57
- p.Ala467fs Single submitter Inborn genetic diseases
- p.Ala583fs Single submitter Inborn genetic diseases
- p.Arg246Ter Single submitter intellectual disability, autosomal dominant 57
- p.Arg286_Asp287insTer Single submitter Inborn genetic diseases
- p.Asn222fs Single submitter
- p.Asn528fs Single submitter
- p.Asn638fs Single submitter TLK2-related disorder
- p.Gln13fs Single submitter intellectual disability, autosomal dominant 57
- p.Gln13Ter Single submitter intellectual disability, autosomal dominant 57
- p.Gln352fs Single submitter
- p.Gln472fs Single submitter intellectual disability, autosomal dominant 57
- p.Gln551Ter Single submitter intellectual disability, autosomal dominant 57
- p.Glu453Ter Single submitter intellectual disability, autosomal dominant 57
- p.Glu49fs Single submitter intellectual disability, autosomal dominant 57
- p.Glu68Ter Single submitter intellectual disability, autosomal dominant 57
- p.Ile576fs Single submitter
- p.Leu238fs Single submitter Inborn genetic diseases
- p.Leu622fs Single submitter intellectual disability, autosomal dominant 57
- p.Lys456Ter Single submitter intellectual disability, autosomal dominant 57
- p.Met341fs Single submitter
- p.Ser26fs Single submitter
- p.Ser289fs Single submitter intellectual disability, autosomal dominant 57
- p.Ser330Ter Single submitter intellectual disability, autosomal dominant 57
- p.Ser637Ter Single submitter
- p.Trp477Ter Single submitter
- p.Trp643Ter Single submitter Inborn genetic diseases
- c.1460+2T>G No assertion criteria intellectual disability, autosomal dominant 57
- c.1720+1G>T No assertion criteria intellectual disability, autosomal dominant 57
Pathogenic/Likely pathogenic 9
- c.1121+1G>A Multiple submitters intellectual disability, autosomal dominant 57
- c.1550+1G>A Multiple submitters intellectual disability, autosomal dominant 57
- p.Arg122Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Arg546Trp Multiple submitters Inborn genetic diseases
- p.Arg703Ter Multiple submitters TLK2-related disorder
- p.His496Arg Multiple submitters TLK2-related disorder
- p.Ser595Leu Multiple submitters intellectual disability, autosomal dominant 57
- p.Tyr259Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Asp529Gly Single submitter intellectual disability, autosomal dominant 57
Likely pathogenic 41
- p.Arg11Ter Multiple submitters intellectual disability, autosomal dominant 57
- p.Cys195Ter Multiple submitters TLK2-related disorder
- p.Gln252Ter Multiple submitters TLK2-related disorder
- p.Pro658Arg Multiple submitters TLK2-related disorder
- c.1121+1G>C Single submitter intellectual disability, autosomal dominant 57
- c.1121+2dup Single submitter
- c.1188+1G>A Single submitter intellectual disability, autosomal dominant 57
- c.1286+5G>A Single submitter Developmental disorder
- c.628-2_628del Single submitter
- p.Ala489Thr Single submitter intellectual disability, autosomal dominant 57
- p.Arg109Gln Single submitter ⚠
- p.Arg240fs Single submitter neurodevelopmental disorder
- p.Arg332fs Single submitter intellectual disability, autosomal dominant 57
- p.Arg363Trp Single submitter
- p.Arg494Trp Single submitter intellectual disability, autosomal dominant 57
- p.Arg546Pro Single submitter
- p.Arg65fs Single submitter intellectual disability, autosomal dominant 57
- p.Asp607Asn Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Cys626Tyr Single submitter TLK2-related disorder
- p.Gln126Ter Single submitter intellectual disability, autosomal dominant 57
- p.Gln200fs Single submitter
- p.Gln209Ter Single submitter intellectual disability, autosomal dominant 57
- p.Gln383Ter Single submitter intellectual disability, autosomal dominant 57
- p.Glu138Ter Single submitter intellectual disability, autosomal dominant 57
- p.Glu542Ter Single submitter intellectual disability, autosomal dominant 57
- p.Gly593Asp Single submitter
- p.Gly608Ala Single submitter
- p.His471Arg Single submitter intellectual disability, autosomal dominant 57
- p.Leu131Ter Single submitter TLK2-related disorder
- p.Leu296Pro Single submitter neurodevelopmental disorder
- p.Leu342Ser Single submitter syndromic microphthalmia
- p.Leu530Pro Single submitter intellectual disability, autosomal dominant 57
- p.Ser196fs Single submitter intellectual disability, autosomal dominant 57
- p.Ser278Pro Single submitter
- p.Ser595Pro Single submitter intellectual disability, autosomal dominant 57
- p.Thr161fs Single submitter
- p.Trp620Ter Single submitter
- p.Tyr650Cys Single submitter TLK2-related disorder
- p.Tyr718Cys Single submitter
- p.Glu333Ter No assertion criteria Rare genetic intellectual disability
- p.Gly527Arg No assertion criteria intellectual disability, autosomal dominant 57
Conflicting classifications of pathogenicity 8
- p.Arg339Gln Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg339Trp Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg546Gln Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg698Ter Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg724Ter Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Gly297Asp Single submitter TLK2-related disorder ⚠
- p.Ile587Arg Single submitter Inborn genetic diseases ⚠
- p.Ser517Leu Single submitter intellectual disability, autosomal dominant 57 ⚠
Benign 2
- p.Pro624= Multiple submitters intellectual disability, autosomal dominant 57
- c.1551-58G>A Single submitter Inborn genetic diseases
Likely benign 38
- p.Lys487= Multiple submitters Inborn genetic diseases
- c.1121+1011A>G Single submitter
- c.1121+1059G>A Single submitter
- c.1460+3246T>C Single submitter
- c.153+15T>A Single submitter
- c.1550+12G>T Single submitter
- c.224-8A>G Single submitter
- p.Ala155Gly Single submitter
- p.Ala353Val Single submitter Inborn genetic diseases
- p.Ala694= Single submitter
- p.Ala743Val Single submitter Inborn genetic diseases
- p.Arg293= Single submitter
- p.Asn745Asp Single submitter intellectual disability, autosomal dominant 57
- p.Asn746= Single submitter
- p.Asp132= Single submitter
- p.Asp227= Single submitter
- p.Asp59Glu Single submitter Inborn genetic diseases
- p.Asp9= Single submitter
- p.Cys715Ser Single submitter
- p.Gln126His Single submitter Inborn genetic diseases
- p.Gln681Arg Single submitter intellectual disability, autosomal dominant 57
- p.Glu257Asp Single submitter Inborn genetic diseases
- p.Gly170= Single submitter
- p.Leu713= Single submitter
- p.Lys388Arg Single submitter intellectual disability, autosomal dominant 57
- p.Lys704= Single submitter
- p.Pro112= Single submitter
- p.Ser547= Single submitter
- p.Ser595= Single submitter
- p.Ser644= Single submitter
- p.Ser744= Single submitter
- p.Ser747= Single submitter
- p.Thr140Met Single submitter
- p.Thr435= Single submitter
- p.Thr673= Single submitter
- p.Thr729= Single submitter
- p.Val23Ile Single submitter Inborn genetic diseases
- c.2080-9C>T No assertion criteria TLK2-related disorder
Uncertain significance 164
- p.Ala399Thr Multiple submitters intellectual disability, autosomal dominant 57 ⚠
- p.Arg19Thr Multiple submitters intellectual disability, autosomal dominant 57 ⚠
- p.Arg724Gln Multiple submitters Inborn genetic diseases ⚠
- p.His193Leu Multiple submitters TLK2-related disorder ⚠
- p.His486del Multiple submitters intellectual disability, autosomal dominant 57
- p.Ile504Arg Multiple submitters intellectual disability, autosomal dominant 57 ⚠
- p.Thr98Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr129Cys Multiple submitters Inborn genetic diseases ⚠
- c.1121+2_1121+3insCT Single submitter
- c.1189-3T>C Single submitter neurofibromatosis type 1
- c.1287-6C>T Single submitter
- c.1287-7T>G Single submitter
- c.1369-8C>T Single submitter intellectual disability, autosomal dominant 57
- c.153+8G>A Single submitter
- c.154-11_175dup Single submitter
- c.154-5G>A Single submitter
- c.1720+2dup Single submitter
- c.1859+16C>T Single submitter
- c.1971+2T>C Single submitter Inborn genetic diseases
- c.1971+2T>G Single submitter
- c.2080-10T>A Single submitter
- c.2080-3C>T Single submitter
- c.267+8A>G Single submitter
- c.363+10C>T Single submitter
- c.81+2del Single submitter intellectual disability, autosomal dominant 57
- c.969-19A>G Single submitter
- c.-6+1G>T Single submitter
- p.Ala135Pro Single submitter Inborn genetic diseases ⚠
- p.Ala139Val Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala370Thr Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Ala545Thr Single submitter Inborn genetic diseases ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg206Ser Single submitter
- p.Arg247Gln Single submitter ⚠
- p.Arg265Lys Single submitter Inborn genetic diseases ⚠
- p.Arg339Pro Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg407Gly Single submitter ⚠
- p.Arg410Ser Single submitter Inborn genetic diseases ⚠
- p.Arg421Lys Single submitter ⚠
- p.Arg421Met Single submitter Inborn genetic diseases ⚠
- p.Arg421Ser Single submitter ⚠
- p.Arg439Lys Single submitter ⚠
- p.Arg503Thr Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Arg546Gly Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Arg656Lys Single submitter Inborn genetic diseases ⚠
- p.Arg697Gly Single submitter ⚠
- p.Arg698Gln Single submitter Inborn genetic diseases ⚠
- p.Arg707Cys Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Asn118Ser Single submitter ⚠
- p.Asn358Ser Single submitter Inborn genetic diseases ⚠
- p.Asn372Ser Single submitter ⚠
- p.Asn437Ser Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Asn58Lys Single submitter ⚠
- p.Asn604Ser Single submitter ⚠
- p.Asp244Glu Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Asp459Tyr Single submitter ⚠
- p.Asp500Gly Single submitter ⚠
- p.Asp591fs Single submitter
- p.Asp591Gly Single submitter ⚠
- p.Asp601_Ser602insAsp Single submitter
- p.Cys195Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys699Arg Single submitter ⚠
- p.Gln179Arg Single submitter Inborn genetic diseases ⚠
- p.Gln663His Single submitter ⚠
- p.Gln711Glu Single submitter ⚠
- p.Gln711His Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Gln74= Single submitter
- p.Glu334Val Single submitter Inborn genetic diseases ⚠
- p.Glu397Asp Single submitter ⚠
- p.Glu3Asp Single submitter ⚠
- p.Glu406Gln Single submitter ⚠
- p.Glu425Lys Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Glu483del Single submitter
- p.Glu523Gly Single submitter ⚠
- p.Glu671Asp Single submitter ⚠
- p.Glu705Gln Single submitter ⚠
- p.Glu89= Single submitter
- p.Gly297Val Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Gly574Asp Single submitter ⚠
- p.Gly655Ala Single submitter TLK2-related disorder ⚠
- p.His193Tyr Single submitter ⚠
- p.His415Gln Single submitter ⚠
- p.His423Arg Single submitter ⚠
- p.His444Tyr Single submitter ⚠
- p.His486Gln Single submitter ⚠
- p.Ile201Phe Single submitter ⚠
- p.Ile249Phe Single submitter Inborn genetic diseases ⚠
- p.Ile495Val Single submitter Inborn genetic diseases ⚠
- p.Ile504Met Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Ile548Leu Single submitter
- p.Ile552Thr Single submitter ⚠
- p.Ile567Val Single submitter Inborn genetic diseases ⚠
- p.Ile597Ser Single submitter ⚠
- p.Ile696Val Single submitter ⚠
- p.Leu238Ser Single submitter ⚠
- p.Leu245Phe Single submitter Inborn genetic diseases ⚠
- p.Leu294Ser Single submitter ⚠
- p.Leu405Met Single submitter ⚠
- p.Leu577Ile Single submitter Inborn genetic diseases ⚠
- p.Lys396Arg Single submitter Inborn genetic diseases ⚠
- p.Lys55Arg Single submitter ⚠
- p.Lys55Glu Single submitter intellectual disability ⚠
- p.Lys635Glu Single submitter Inborn genetic diseases ⚠
- p.Lys657Asn Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Lys704Arg Single submitter
- p.Lys76Gln Single submitter ⚠
- p.Met150Leu Single submitter ⚠
- p.Met255Leu Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Met290Ile Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Met550Leu Single submitter intellectual disability, autosomal dominant 57
- p.Met550Thr Single submitter ⚠
- p.Phe175Val Single submitter ⚠
- p.Phe458Leu Single submitter Inborn genetic diseases ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro121Leu Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Pro347Ser Single submitter ⚠
- p.Pro348del Single submitter
- p.Pro355Leu Single submitter intellectual disability, autosomal dominant 57 ⚠
- p.Pro434Ser Single submitter Inborn genetic diseases ⚠
- p.Pro573Ala Single submitter ⚠
- p.Pro573Leu Single submitter ⚠
- p.Pro658Leu Single submitter TLK2-related disorder ⚠
- p.Pro686Leu Single submitter ⚠
- p.Pro717Thr Single submitter ⚠
- p.Pro721Thr Single submitter ⚠
- p.Ser103Arg Single submitter ⚠
- p.Ser184Leu Single submitter Inborn genetic diseases ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser32Gly Single submitter ⚠
- p.Ser428= Single submitter
- p.Ser452Arg Single submitter ⚠
- p.Ser452Asn Single submitter ⚠
- p.Ser595Trp Single submitter ⚠
- p.Ser613Ala Single submitter ⚠
- p.Ser637Pro Single submitter Inborn genetic diseases ⚠
- p.Ser726fs Single submitter
- p.Ser7Ile Single submitter Inborn genetic diseases ⚠
- p.Thr148Ala Single submitter Inborn genetic diseases ⚠
- p.Thr148Pro Single submitter Inborn genetic diseases ⚠
- p.Thr186Met Single submitter Inborn genetic diseases ⚠
- p.Thr435Ala Single submitter ⚠
- p.Thr435Pro Single submitter ⚠
- p.Thr461Ile Single submitter Inborn genetic diseases ⚠
- p.Thr590Arg Single submitter ⚠
- p.Thr689del Single submitter intellectual disability, autosomal dominant 57
- p.Thr98Asn Single submitter ⚠
- p.Tyr569Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr619Cys Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val107Ala Single submitter Inborn genetic diseases ⚠
- p.Val124Ala Single submitter ⚠
- p.Val152Glu Single submitter ⚠
- p.Val42Ile Single submitter Inborn genetic diseases ⚠
- p.Val521Ile Single submitter intellectual disability, autosomal dominant 57
- p.Val629Ala Single submitter ⚠
- p.Val642Met Single submitter ⚠
- p.Val710Asp Single submitter ⚠
- p.Arg12Trp No assertion criteria intellectual disability, autosomal dominant 57 ⚠
- p.Asp570Asn No assertion criteria intellectual disability, autosomal dominant 57 ⚠
- p.Cys715delinsTyrLeuLeuProHisIleAsnGlnGlnGlnAla No assertion criteria TLK2-related disorder
- p.Leu577Val No assertion criteria TLK2-related disorder ⚠