CTBP1 — 350 ClinVar variants
All ClinVar germline CTBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 13 Benign · 11 Benign/Likely benign · 173 Likely benign · 143 Uncertain significance
Full CTBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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.
-
CTBP1 p.Gly157Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CTBP1 p.Gly227Ser
Conflicting
Single submitter
Inborn genetic diseases
- CTBP1 p.Pro410Leu Conflicting Single submitter
-
CTBP1 p.Thr380Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CTBP1 p.Val241Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CTBP1 p.Val359Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CTBP1 c.-205C>G
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Ala384Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Ala404Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Arg173Cys
Uncertain significance
Multiple submitters
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
-
CTBP1 p.Gly399Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Val359Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Val390Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Val416Ile
Uncertain significance
Multiple submitters
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
-
CTBP1 c.-195C>G
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 c.-195C>T Uncertain significance Single submitter
- CTBP1 c.-197T>C Uncertain significance Single submitter
- CTBP1 c.-200G>A Uncertain significance Single submitter
-
CTBP1 c.-202G>C
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 c.-221G>C Uncertain significance Single submitter
- CTBP1 p.Ala118Val Uncertain significance Single submitter
- CTBP1 p.Ala182Val Uncertain significance Single submitter
-
CTBP1 p.Ala347Ser
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Ala357Thr Uncertain significance Single submitter
-
CTBP1 p.Ala385Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Ala409Ser Uncertain significance Single submitter
-
CTBP1 p.Ala409Thr
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Ala41Val Uncertain significance Single submitter
- CTBP1 p.Ala420Val Uncertain significance Single submitter
- CTBP1 p.Ala425Asp Uncertain significance Single submitter
- CTBP1 p.Arg140Trp Uncertain significance Single submitter
-
CTBP1 p.Arg152His
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Arg162His Uncertain significance Single submitter
- CTBP1 p.Arg16Gln Uncertain significance Single submitter
-
CTBP1 p.Arg181Trp
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Arg208Cys Uncertain significance Single submitter
- CTBP1 p.Arg255Gln Uncertain significance Single submitter
-
CTBP1 p.Arg255Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Arg25Gln Uncertain significance Single submitter
-
CTBP1 p.Arg274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Arg274His Uncertain significance Single submitter
- CTBP1 p.Arg325His Uncertain significance Single submitter
- CTBP1 p.Arg86Trp Uncertain significance Single submitter
-
CTBP1 p.Asp23Gly
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Asp355Glu Uncertain significance Single submitter
- CTBP1 p.Asp423Glu Uncertain significance Single submitter
- CTBP1 p.Asp44Gly Uncertain significance Single submitter
- CTBP1 p.Cys27Gly Uncertain significance Single submitter
- CTBP1 p.Gln150Arg Uncertain significance Single submitter
-
CTBP1 p.Glu230Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Glu261Gly Uncertain significance Single submitter
- CTBP1 p.Glu323Ala Uncertain significance Single submitter
- CTBP1 p.Gly100Arg Uncertain significance Single submitter
- CTBP1 p.Gly163Arg Uncertain significance Single submitter
- CTBP1 p.Gly186Ser Uncertain significance Single submitter
- CTBP1 p.Gly199Asp Uncertain significance Single submitter
-
CTBP1 p.Gly373Ala
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Gly88Ser Uncertain significance Single submitter
-
CTBP1 p.Gly88Val
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
-
CTBP1 p.His52Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Ile332Val Uncertain significance Single submitter
- CTBP1 p.Ile382Val Uncertain significance Single submitter
-
CTBP1 p.Leu166Phe
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Leu204Arg Uncertain significance Single submitter
- CTBP1 p.Leu21Ser Uncertain significance Single submitter
- CTBP1 p.Leu22Gln Uncertain significance Single submitter
- CTBP1 p.Phe42Ser Uncertain significance Single submitter
-
CTBP1 p.Pro194Ser
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Pro285Leu Uncertain significance Single submitter
- CTBP1 p.Pro333Leu Uncertain significance Single submitter
-
CTBP1 p.Pro410Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTBP1 p.Ser113Pro
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
-
CTBP1 p.Ser98Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Thr302Pro Uncertain significance Single submitter
- CTBP1 p.Val374Met Uncertain significance Single submitter
- CTBP1 p.Val403Met Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
-
CTBP1 p.Arg331Trp
Pathogenic
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Gln137His
Uncertain significance
Multiple submitters
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Pro292Ser Uncertain significance Multiple submitters
-
CTBP1 p.Ser197Leu
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Ser426Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Thr71Ile
Likely benign
Multiple submitters
Inborn genetic diseases
-
CTBP1 p.Val109Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- CTBP1 p.Val55Ile Uncertain significance Multiple submitters
- CTBP1 c.-218C>G Likely benign Single submitter
-
CTBP1 p.Ala111Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Ala158Thr Uncertain significance Single submitter
- CTBP1 p.Ala263Val Uncertain significance Single submitter
- CTBP1 p.Ala276Thr Uncertain significance Single submitter
- CTBP1 p.Ala348Thr Uncertain significance Single submitter
- CTBP1 p.Ala352Thr Uncertain significance Single submitter
-
CTBP1 p.Arg144Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Arg173His Uncertain significance Single submitter
-
CTBP1 p.Arg272Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Arg331Gln Uncertain significance Single submitter
- CTBP1 p.Asn127Lys Uncertain significance Single submitter
- CTBP1 p.Asn298Ser Uncertain significance Single submitter
- CTBP1 p.Asn93Ser Uncertain significance Single submitter
- CTBP1 p.Asp26Glu Uncertain significance Single submitter
-
CTBP1 p.Asp44Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Gln176Arg Uncertain significance Single submitter
- CTBP1 p.Gly330Ala Uncertain significance Single submitter
- CTBP1 p.His233Arg Uncertain significance Single submitter
- CTBP1 p.Ile236Leu Uncertain significance Single submitter
- CTBP1 p.Ile332Met Uncertain significance Single submitter
- CTBP1 p.Ile83Met Uncertain significance Single submitter
-
CTBP1 p.Ile96Val
Uncertain significance
Single submitter
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- CTBP1 p.Leu215Met Uncertain significance Single submitter
- CTBP1 p.Leu56Val Uncertain significance Single submitter
- CTBP1 p.Met9Leu Uncertain significance Single submitter
- CTBP1 p.Met9Val Uncertain significance Single submitter
-
CTBP1 p.Pro371Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Pro372Arg Likely benign Single submitter
- CTBP1 p.Pro7Gln Uncertain significance Single submitter
- CTBP1 p.Pro7Leu Uncertain significance Single submitter
-
CTBP1 p.Ser147Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTBP1 p.Ser283Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Ser287Gly Uncertain significance Single submitter
- CTBP1 p.Ser335Gly Uncertain significance Single submitter
- CTBP1 p.Ser353Asn Uncertain significance Single submitter
- CTBP1 p.Ser411Phe Uncertain significance Single submitter
-
CTBP1 p.Ser89Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTBP1 p.Thr302Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Tyr192Cys Uncertain significance Single submitter
-
CTBP1 p.Val106Ile
Likely benign
Single submitter
Inborn genetic diseases
-
CTBP1 p.Val148Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Val189Leu Uncertain significance Single submitter
-
CTBP1 p.Val200Met
Conflicting
Single submitter
Inborn genetic diseases
- CTBP1 p.Val222Leu Uncertain significance Single submitter
-
CTBP1 p.Val37Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CTBP1 p.Val60Met Uncertain significance Single submitter
-
CTBP1 p.Ala366Thr
Uncertain significance
No assertion criteria
CTBP1-related disorder
-
CTBP1 p.Ser210Asn
Uncertain significance
No assertion criteria
microcephaly
All CTBP1 variants
Pathogenic 1
- p.Arg331Trp Multiple submitters Inborn genetic diseases ⚠
Likely pathogenic 1
- p.Phe42del Single submitter intellectual disability
Conflicting classifications of pathogenicity 8
- c.515-3C>T Single submitter Inborn genetic diseases
- p.Gly157Ser Single submitter Inborn genetic diseases ⚠
- p.Gly227Ser Single submitter Inborn genetic diseases ⚠
- p.Pro410Leu Single submitter ⚠
- p.Thr380Ser Single submitter Inborn genetic diseases ⚠
- p.Val200Met Single submitter Inborn genetic diseases ⚠
- p.Val241Ile Single submitter Inborn genetic diseases ⚠
- p.Val359Leu Single submitter Inborn genetic diseases ⚠
Benign 13
- p.Ala45= Multiple submitters
- p.Pro110= Multiple submitters
- p.Val148= Multiple submitters
- c.162+5C>T Single submitter
- c.162+892_162+961del Single submitter
- c.514+11C>T Single submitter
- c.515-17dup Single submitter
- c.515-9C>T Single submitter
- c.860+5C>T Single submitter
- c.860+8dup Single submitter
- c.988+13G>A Single submitter
- c.988+19C>T Single submitter
- p.Arg331= Single submitter
Benign/Likely benign 11
- c.163-8C>T Multiple submitters
- p.Ala420= Multiple submitters
- p.Arg162= Multiple submitters hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- p.Arg274= Multiple submitters
- p.Asn237= Multiple submitters
- p.Gly227= Multiple submitters
- p.His405Leu Multiple submitters
- p.Pro402= Multiple submitters
- p.Ser197Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser397= Multiple submitters
- p.Val109Met Multiple submitters Inborn genetic diseases ⚠
Likely benign 173
- c.162+159G>T Multiple submitters
- c.163-8C>G Multiple submitters
- c.515-4C>T Multiple submitters
- c.988+7G>A Multiple submitters
- c.-208C>T Multiple submitters
- p.Ala105= Multiple submitters
- p.Ala263= Multiple submitters
- p.Ala357= Multiple submitters
- p.His281= Multiple submitters
- p.Ile314= Multiple submitters
- p.Ile84= Multiple submitters
- p.Leu396= Multiple submitters
- p.Leu70= Multiple submitters
- p.Pro406= Multiple submitters
- p.Ser283= Multiple submitters
- p.Thr302= Multiple submitters
- p.Thr71Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr192= Multiple submitters
- p.Val358Ile Multiple submitters Inborn genetic diseases
- c.1106+12C>T Single submitter
- c.1106+19C>T Single submitter
- c.1107-20G>C Single submitter
- c.1107-7C>A Single submitter
- c.162+102C>A Single submitter
- c.162+10C>T Single submitter
- c.162+11G>A Single submitter
- c.162+138G>C Single submitter
- c.162+141G>A Single submitter
- c.162+176A>G Single submitter
- c.162+176A>T Single submitter
- c.162+17G>A Single submitter
- c.162+17G>C Single submitter
- c.162+192C>T Single submitter
- c.162+240T>C Single submitter
- c.162+24G>T Single submitter
- c.162+282T>C Single submitter
- c.162+296_162+330del Single submitter
- c.162+339_162+408del Single submitter
- c.162+339T>G Single submitter
- c.162+40G>A Single submitter
- c.162+44G>A Single submitter
- c.162+80G>A Single submitter
- c.162+84C>T Single submitter
- c.162+8C>T Single submitter
- c.162+995A>G Single submitter
- c.163-17G>C Single submitter
- c.163-6C>T Single submitter
- c.307+12C>T Single submitter
- c.307+8G>A Single submitter
- c.308-19C>T Single submitter
- c.308-6C>T Single submitter
- c.514+12G>A Single submitter
- c.514+1879C>T Single submitter
- c.514+19C>T Single submitter
- c.514+20A>G Single submitter
- c.514+7C>T Single submitter
- c.514+8G>A Single submitter
- c.515-8G>A Single submitter
- c.729+13G>A Single submitter
- c.730-10T>C Single submitter
- c.730-11A>C Single submitter
- c.730-14C>T Single submitter
- c.8-10T>C Single submitter
- c.860+11G>A Single submitter
- c.861-20C>T Single submitter
- c.861-4C>G Single submitter
- c.861-9T>C Single submitter
- c.988+16G>A Single submitter
- c.988+20G>A Single submitter
- c.989-14C>T Single submitter
- c.989-16C>T Single submitter
- c.989-18_989-15del Single submitter
- c.989-6T>C Single submitter
- c.-189+14C>A Single submitter
- c.-189+15G>C Single submitter
- c.-189+16_-189+37del Single submitter
- c.-189+18C>G Single submitter
- c.-189+19G>A Single submitter
- c.-189+20C>G Single submitter
- c.-189+7C>T Single submitter
- c.-189+8C>A Single submitter
- c.-189+8CG[5] Single submitter
- c.-189+8CG[6] Single submitter
- c.-193G>C Single submitter
- c.-193G>T Single submitter
- c.-196G>A Single submitter
- c.-198C>T Single submitter
- c.-199C>T Single submitter
- c.-217G>A Single submitter
- c.-217G>T Single submitter
- c.-218C>G Single submitter ⚠
- c.-220C>T Single submitter
- c.-232C>T Single submitter
- p.Ala138= Single submitter
- p.Ala155= Single submitter
- p.Ala179= Single submitter
- p.Ala276= Single submitter
- p.Ala320= Single submitter
- p.Ala347= Single submitter
- p.Ala348= Single submitter
- p.Ala367= Single submitter
- p.Ala425Thr Single submitter
- p.Ala99= Single submitter
- p.Arg140= Single submitter
- p.Arg181Gln Single submitter
- p.Asn10= Single submitter
- p.Asn108= Single submitter
- p.Asn127= Single submitter
- p.Asn229= Single submitter
- p.Asn57= Single submitter
- p.Asp220= Single submitter
- p.Asp26= Single submitter
- p.Asp334= Single submitter
- p.Asp423= Single submitter
- p.Asp44= Single submitter
- p.Cys226= Single submitter
- p.Cys43= Single submitter
- p.Glu141= Single submitter
- p.Glu419= Single submitter
- p.Gly157= Single submitter
- p.Gly199= Single submitter
- p.Gly247= Single submitter
- p.Gly275= Single submitter
- p.Gly3= Single submitter
- p.Gly373= Single submitter
- p.His398= Single submitter
- p.His408= Single submitter
- p.His424= Single submitter
- p.His52= Single submitter
- p.Ile169= Single submitter
- p.Ile328= Single submitter
- p.Ile94= Single submitter Inborn genetic diseases
- p.Leu122= Single submitter
- p.Leu135= Single submitter
- p.Leu212= Single submitter
- p.Leu228= Single submitter
- p.Leu34= Single submitter
- p.Lys269= Single submitter
- p.Phe185= Single submitter
- p.Pro12= Single submitter
- p.Pro17= Single submitter
- p.Pro356= Single submitter
- p.Pro361= Single submitter
- p.Pro372= Single submitter
- p.Pro372Arg Single submitter ⚠
- p.Pro379= Single submitter
- p.Pro401= Single submitter
- p.Pro406= Single submitter
- p.Ser120= Single submitter
- p.Ser156= Single submitter
- p.Ser219= Single submitter
- p.Ser309= Single submitter
- p.Ser89= Single submitter
- p.Thr117= Single submitter
- p.Thr121= Single submitter
- p.Thr133= Single submitter
- p.Thr165= Single submitter
- p.Thr240= Single submitter
- p.Thr253= Single submitter
- p.Thr346= Single submitter
- p.Thr48= Single submitter
- p.Tyr129= Single submitter
- p.Tyr370= Single submitter
- p.Val106Ile Single submitter Inborn genetic diseases ⚠
- p.Val340= Single submitter
- p.Val358= Single submitter
- p.Val359del Single submitter
- p.Val374= Single submitter
- p.Val375= Single submitter
- p.Val403= Single submitter
- p.Val55= Single submitter
- c.1106+9G>A No assertion criteria CTBP1-related disorder
- p.Thr211= No assertion criteria CTBP1-related disorder
Uncertain significance 143
- c.-205C>G Multiple submitters Inborn genetic diseases ⚠
- p.Ala384Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala404Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg173Cys Multiple submitters hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Gln137His Multiple submitters hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Gly399Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro292Ser Multiple submitters ⚠
- p.Ser426Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val359Met Multiple submitters Inborn genetic diseases ⚠
- p.Val390Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val416Ile Multiple submitters hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Val55Ile Multiple submitters ⚠
- c.162+314C>G Single submitter
- c.162+340C>T Single submitter
- c.515-811_515-810del Single submitter
- c.7+1G>A Single submitter
- c.860+3G>A Single submitter
- c.860+6C>T Single submitter
- c.860+7C>G Single submitter
- c.861-1G>A Single submitter
- c.988+6C>T Single submitter
- c.989-1G>T Single submitter
- c.989-3C>T Single submitter
- c.989-6_989-4del Single submitter
- c.-189+4A>C Single submitter
- c.-189+6G>A Single submitter
- c.-190T>G Single submitter
- c.-195C>G Single submitter Inborn genetic diseases ⚠
- c.-195C>T Single submitter ⚠
- c.-197T>C Single submitter ⚠
- c.-200G>A Single submitter ⚠
- c.-202G>C Single submitter Inborn genetic diseases ⚠
- c.-221G>C Single submitter ⚠
- p.Ala111Val Single submitter Inborn genetic diseases ⚠
- p.Ala112= Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- p.Ala118Val Single submitter ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala182Val Single submitter ⚠
- p.Ala263Val Single submitter ⚠
- p.Ala276Thr Single submitter ⚠
- p.Ala347Ser Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Ala348Thr Single submitter ⚠
- p.Ala352Thr Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala385Ser Single submitter Inborn genetic diseases ⚠
- p.Ala409Ser Single submitter ⚠
- p.Ala409Thr Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Ala41fs Single submitter
- p.Ala41Val Single submitter ⚠
- p.Ala420Val Single submitter ⚠
- p.Ala425Asp Single submitter ⚠
- p.Ala45_Ser47del Single submitter
- p.Arg140Trp Single submitter ⚠
- p.Arg144Gln Single submitter Inborn genetic diseases ⚠
- p.Arg144Ter Single submitter
- p.Arg152His Single submitter Inborn genetic diseases ⚠
- p.Arg162His Single submitter ⚠
- p.Arg16Gln Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg181Trp Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg255Trp Single submitter Inborn genetic diseases ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg272Gln Single submitter Inborn genetic diseases ⚠
- p.Arg274Cys Single submitter Inborn genetic diseases ⚠
- p.Arg274His Single submitter ⚠
- p.Arg325His Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn188= Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- p.Asn298Ser Single submitter ⚠
- p.Asn93Ser Single submitter ⚠
- p.Asp23Gly Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Asp26Glu Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Asp423Glu Single submitter ⚠
- p.Asp44Asn Single submitter Inborn genetic diseases ⚠
- p.Asp44Gly Single submitter ⚠
- p.Cys27Gly Single submitter ⚠
- p.Gln150Arg Single submitter ⚠
- p.Gln176Arg Single submitter ⚠
- p.Glu116Ter Single submitter
- p.Glu230Lys Single submitter Inborn genetic diseases ⚠
- p.Glu261Gly Single submitter ⚠
- p.Glu323Ala Single submitter ⚠
- p.Gly100Arg Single submitter ⚠
- p.Gly163Arg Single submitter ⚠
- p.Gly186Ser Single submitter ⚠
- p.Gly199Asp Single submitter ⚠
- p.Gly330Ala Single submitter ⚠
- p.Gly373Ala Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Gly88Ser Single submitter ⚠
- p.Gly88Val Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.His233Arg Single submitter ⚠
- p.His408fs Single submitter
- p.His52Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile236Leu Single submitter ⚠
- p.Ile332Met Single submitter ⚠
- p.Ile332Val Single submitter ⚠
- p.Ile382Val Single submitter ⚠
- p.Ile83Met Single submitter ⚠
- p.Ile96Val Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Leu166Phe Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Leu204Arg Single submitter ⚠
- p.Leu215Met Single submitter ⚠
- p.Leu21Ser Single submitter ⚠
- p.Leu22Gln Single submitter ⚠
- p.Leu56Val Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met9Leu Single submitter ⚠
- p.Met9Val Single submitter ⚠
- p.Phe42Ser Single submitter ⚠
- p.Pro194Ser Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Pro285Leu Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Pro371Ser Single submitter Inborn genetic diseases ⚠
- p.Pro410Thr Single submitter Inborn genetic diseases ⚠
- p.Pro7Gln Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser113Pro Single submitter hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ⚠
- p.Ser147Asn Single submitter Inborn genetic diseases ⚠
- p.Ser283Leu Single submitter Inborn genetic diseases ⚠
- p.Ser287Gly Single submitter ⚠
- p.Ser335Gly Single submitter ⚠
- p.Ser353Asn Single submitter ⚠
- p.Ser411Phe Single submitter ⚠
- p.Ser89Asn Single submitter Inborn genetic diseases ⚠
- p.Ser98Trp Single submitter Inborn genetic diseases ⚠
- p.Thr302Pro Single submitter ⚠
- p.Thr302Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr192Cys Single submitter ⚠
- p.Val148Ile Single submitter Inborn genetic diseases ⚠
- p.Val189Leu Single submitter ⚠
- p.Val222Leu Single submitter ⚠
- p.Val359_His360insVal Single submitter
- p.Val374Met Single submitter ⚠
- p.Val37Met Single submitter Inborn genetic diseases ⚠
- p.Val403Met Single submitter ⚠
- p.Val60Met Single submitter ⚠
- p.Ala366Thr No assertion criteria CTBP1-related disorder ⚠
- p.Ser210Asn No assertion criteria microcephaly ⚠