TBL1XR1 — 586 ClinVar variants
All ClinVar germline TBL1XR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →
31 Pathogenic · 7 Pathogenic/Likely pathogenic · 57 Likely pathogenic · 19 Conflicting · 35 Benign · 11 Benign/Likely benign · 220 Likely benign · 206 Uncertain significance
Full TBL1XR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 180
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TBL1XR1 p.Ala118Val
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala475Val
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn382Ser
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly29Asp
Conflicting
Single submitter
TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
-
TBL1XR1 p.His307Arg
Conflicting
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Ile394Met
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser119Asn
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser230Phe
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser324Ala
Conflicting
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Trp376Arg
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Val222Asp
Conflicting
Single submitter
TBL1XR1-related disorder
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TBL1XR1 p.Ala449Val
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Arg14Gly
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Arg513Trp
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Asn391Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Asn412Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Asp147Glu
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Asp386His
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Asp496Asn
Uncertain significance
Multiple submitters
TBL1XR1-related disorder
-
TBL1XR1 p.Ile52Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBL1XR1 p.Ile66Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
- TBL1XR1 p.Lys392Glu Uncertain significance Multiple submitters
-
TBL1XR1 p.Met414Leu
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ser119Thr
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ser181Thr
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ser199Arg
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Thr406Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Thr471Met
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Thr473Ile
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ala114Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala117Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala118Asp
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala138Gly
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala142Thr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ala176Gly Uncertain significance Single submitter
- TBL1XR1 p.Ala259Pro Uncertain significance Single submitter
- TBL1XR1 p.Ala25Thr Uncertain significance Single submitter
-
TBL1XR1 p.Ala416Thr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala458Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBL1XR1 p.Ala48Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBL1XR1 p.Ala494Thr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ala494Val Uncertain significance Single submitter
-
TBL1XR1 p.Ala86Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Arg455Lys
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Arg481Ser
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn132Ser
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asn143Ser Uncertain significance Single submitter
-
TBL1XR1 p.Asn160His
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn178Ser
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn234Asp
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asn257Lys Uncertain significance Single submitter
-
TBL1XR1 p.Asn391Asp
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn410His
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asn470Asp Uncertain significance Single submitter
-
TBL1XR1 p.Asp101Glu
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asp287His
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asp381His Uncertain significance Single submitter
-
TBL1XR1 p.Asp430Glu
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asp511Val Uncertain significance Single submitter
-
TBL1XR1 p.Asp69Tyr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asp6Gly
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asp74Gly Uncertain significance Single submitter
-
TBL1XR1 p.Asp90Gly
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Cys214Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Cys434Tyr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Gln106Lys Uncertain significance Single submitter
- TBL1XR1 p.Gln107Glu Uncertain significance Single submitter
- TBL1XR1 p.Gln302Glu Uncertain significance Single submitter
- TBL1XR1 p.Gln442Glu Uncertain significance Single submitter
-
TBL1XR1 p.Gln93Glu
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Glu217Gln
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly122Glu
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly187Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly263Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly403Glu
Uncertain significance
Single submitter
TBL1XR1-related disorder
-
TBL1XR1 p.Gly41Asp
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Gly485Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBL1XR1 p.Gly70Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.His145Leu
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.His213Arg Uncertain significance Single submitter
- TBL1XR1 p.His213Asp Uncertain significance Single submitter
-
TBL1XR1 p.His296Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.His296Tyr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.His390Arg Uncertain significance Single submitter
-
TBL1XR1 p.Ile174Asn
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ile195Met Uncertain significance Single submitter
-
TBL1XR1 p.Ile375Met
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ile433Leu Uncertain significance Single submitter
-
TBL1XR1 p.Ile78Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ile84Thr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Leu103Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Leu387Ser
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Lys125Thr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Lys226Asn
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Lys276Arg
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Lys398Glu Uncertain significance Single submitter
- TBL1XR1 p.Lys464Thr Uncertain significance Single submitter
-
TBL1XR1 p.Lys497Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Met148Ile
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Met148Lys Uncertain significance Single submitter
-
TBL1XR1 p.Met148Thr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Met378Leu
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Phe10Leu
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Phe21Leu Uncertain significance Single submitter
- TBL1XR1 p.Phe420Val Uncertain significance Single submitter
- TBL1XR1 p.Pro179Arg Uncertain significance Single submitter
-
TBL1XR1 p.Pro409Ala
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Pro409Thr
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser119Gly
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ser170Pro Uncertain significance Single submitter
-
TBL1XR1 p.Ser181Asn
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser202Arg
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ser204Gly Uncertain significance Single submitter
-
TBL1XR1 p.Ser206Pro
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ser224Ile
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ser283Asn Uncertain significance Single submitter
- TBL1XR1 p.Ser419Phe Uncertain significance Single submitter
- TBL1XR1 p.Ser82Cys Uncertain significance Single submitter
- TBL1XR1 p.Thr130Ala Uncertain significance Single submitter
-
TBL1XR1 p.Thr146Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TBL1XR1 p.Thr207Ala
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Thr238Pro
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Thr242Ala
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Trp252Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Tyr13Cys
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Tyr59Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
- TBL1XR1 p.Val12Ile Uncertain significance Single submitter
- TBL1XR1 p.Val172Gly Uncertain significance Single submitter
-
TBL1XR1 p.Val180Ile
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Val210Gly
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Val424Ile
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Val445Met
Uncertain significance
Single submitter
Pierpont syndrome
Predictors split 48
The independent predictors disagree with each other — read with care.
-
TBL1XR1 p.Ala108Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBL1XR1 p.Ala176Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ala47Thr
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Arg431Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBL1XR1 p.Asn40Ser
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Gln93Leu
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Ser235Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TBL1XR1 p.Thr402Ala
Uncertain significance
Multiple submitters
Pierpont syndrome
-
TBL1XR1 p.Val44Ile
Uncertain significance
Multiple submitters
Pierpont syndrome
- TBL1XR1 p.Ala110Pro Uncertain significance Single submitter
-
TBL1XR1 p.Ala115Thr
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala116Ser
Conflicting
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ala42Thr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Arg513Gln Uncertain significance Single submitter
- TBL1XR1 p.Arg76Gln Uncertain significance Single submitter
-
TBL1XR1 p.Arg95Gly
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn225Ser
Uncertain significance
Single submitter
TBL1XR1-related disorder
-
TBL1XR1 p.Asn38Ser
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Asn407Asp
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Asp221Gly Uncertain significance Single submitter
- TBL1XR1 p.Asp430Gly Uncertain significance Single submitter
-
TBL1XR1 p.Cys508Tyr
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Gln97Glu Uncertain significance Single submitter
-
TBL1XR1 p.Gly122Arg
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Gly75Asp Uncertain significance Single submitter
-
TBL1XR1 p.His33Arg
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Ile291Val Uncertain significance Single submitter
-
TBL1XR1 p.Ile375Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Ile394Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
-
TBL1XR1 p.Ile84Met
Likely pathogenic
Single submitter
intellectual disability
-
TBL1XR1 p.Leu103Pro
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Leu81Val
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Lys273Arg
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Met149Ile
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Pro158Leu Uncertain significance Single submitter
-
TBL1XR1 p.Pro158Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 41
- TBL1XR1 p.Ser224Asn Uncertain significance Single submitter
-
TBL1XR1 p.Ser235Asn
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Thr238Ala
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Thr473Ala
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Tyr99Asn Uncertain significance Single submitter
- TBL1XR1 p.Tyr99His Uncertain significance Single submitter
- TBL1XR1 p.Val151Leu Uncertain significance Single submitter
-
TBL1XR1 p.Val164Leu
Uncertain significance
Single submitter
Pierpont syndrome
- TBL1XR1 p.Val286Gly Pathogenic Single submitter
-
TBL1XR1 p.Val424Leu
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Val448Ile
Uncertain significance
Single submitter
Pierpont syndrome
-
TBL1XR1 p.Val87Ile
Uncertain significance
Single submitter
Pierpont syndrome
All TBL1XR1 variants
Pathogenic 31
- p.Gln120fs Multiple submitters Pierpont syndrome
- p.Tyr446Cys Multiple submitters TBL1XR1-related disorder
- c.1251-1G>A Single submitter
- c.58+2T>C Single submitter
- p.Arg14fs Single submitter Pierpont syndrome
- p.Arg216Ter Single submitter
- p.Asn126fs Single submitter Pierpont syndrome
- p.Asp463delinsGlyLysTrpPhePheTer Single submitter intellectual disability, autosomal dominant 41
- p.Gln54Ter Single submitter intellectual disability, autosomal dominant 41
- p.Glu393fs Single submitter Inborn genetic diseases
- p.Gly267Cys Single submitter intellectual disability, autosomal dominant 41
- p.Ile141fs Single submitter intellectual disability, autosomal dominant 41
- p.Leu209fs Single submitter Pierpont syndrome
- p.Lys277fs Single submitter Pierpont syndrome
- p.Pro444Leu Single submitter intellectual disability, autosomal dominant 41
- p.Ser186Leu Single submitter
- p.Ser22fs Single submitter Pierpont syndrome
- p.Ser447Asn Single submitter Pierpont syndrome
- p.Thr242Pro Single submitter
- p.Thr261fs Single submitter Pierpont syndrome
- p.Trp252Arg Single submitter
- p.Trp274Arg Single submitter
- p.Trp399Arg Single submitter Pierpont syndrome
- p.Tyr446Asp Single submitter intellectual disability, autosomal dominant 41
- p.Tyr456fs Single submitter
- p.Val286Gly Single submitter ⚠
- p.Val445Leu Single submitter
- p.Ile292fs No assertion criteria intellectual disability, autosomal dominant 41
- p.Ile397fs No assertion criteria intellectual disability, autosomal dominant 41
- p.Ser199fs No assertion criteria intellectual disability, autosomal dominant 41
- p.Trp233Arg No assertion criteria intellectual disability, autosomal dominant 41
Pathogenic/Likely pathogenic 7
- c.205-7A>G Multiple submitters intellectual disability, autosomal dominant 41
- p.Arg431Ter Multiple submitters Pierpont syndrome
- p.Arg76Ter Multiple submitters Pierpont syndrome
- p.Gly460Asp Multiple submitters
- p.Gly70Cys Multiple submitters TBL1XR1-related disorder
- p.Tyr245Cys Multiple submitters Pierpont syndrome
- p.Tyr395Cys Multiple submitters Pierpont syndrome
Likely pathogenic 57
- p.Asp463Asn Multiple submitters Pierpont syndrome
- p.Cys175Tyr Multiple submitters TBL1XR1-related disorder
- c.1250+2T>G Single submitter
- c.1251-2A>T Single submitter Pierpont syndrome
- c.204+2del Single submitter intellectual disability, autosomal dominant 41
- c.59-1G>A Single submitter intellectual disability, autosomal dominant 41
- c.703-2A>G Single submitter Pierpont syndrome
- c.864+1G>A Single submitter Pierpont syndrome
- c.865-7A>G Single submitter intellectual disability
- p.Ala475fs Single submitter Pierpont syndrome
- p.Arg166Leu Single submitter
- p.Asp227Asn Single submitter Pierpont syndrome
- p.Asp227Gly Single submitter TBL1XR1-related disorder
- p.Asp246Gly Single submitter TBL1XR1-related disorder
- p.Asp287Val Single submitter Inborn genetic diseases
- p.Gln121Ter Single submitter Pierpont syndrome
- p.Gln58fs Single submitter Pierpont syndrome
- p.Glu393Ter Single submitter
- p.Glu63Lys Single submitter intellectual disability, autosomal dominant 41
- p.Gly237Asp Single submitter Pierpont syndrome
- p.Gly243Asp Single submitter intellectual disability, autosomal dominant 41
- p.Gly247Glu Single submitter
- p.Gly267Val Single submitter
- p.Gly285Arg Single submitter intellectual disability, autosomal dominant 41
- p.Gly460Val Single submitter intellectual disability, autosomal dominant 41
- p.Gly485Arg Single submitter intellectual disability, autosomal dominant 41
- p.Gly499Glu Single submitter intellectual disability
- p.Gly70Asp Single submitter intellectual disability, autosomal dominant 41
- p.His168Arg Single submitter
- p.His265Asn Single submitter Inborn genetic diseases
- p.His307Leu Single submitter TBL1XR1-related disorder
- p.His467_Ile468insAsn Single submitter
- p.Ile331Phe Single submitter Inborn genetic diseases
- p.Ile397_Thr402del Single submitter conotruncal heart malformations
- p.Ile84Met Single submitter intellectual disability ⚠
- p.Leu184Arg Single submitter
- p.Leu282Pro Single submitter TBL1XR1-related neurodevelopmental disorder
- p.Leu426Ter Single submitter Pierpont syndrome
- p.Leu83Gln Single submitter
- p.Phe173Leu Single submitter
- p.Phe270Cys Single submitter intellectual disability, autosomal dominant 41
- p.Phe270fs Single submitter
- p.Phe462Ser Single submitter Pierpont syndrome
- p.Pro268Leu Single submitter neurodevelopmental disorder
- p.Ser230Tyr Single submitter intellectual disability, autosomal dominant 41
- p.Ser283Arg Single submitter
- p.Ser2fs Single submitter intellectual disability, autosomal dominant 41
- p.Ser308Pro Single submitter intellectual disability, autosomal dominant 41
- p.Ser447Arg Single submitter Inborn genetic diseases
- p.Tyr15Ter Single submitter intellectual disability, autosomal dominant 41
- p.Tyr395fs Single submitter intellectual disability, autosomal dominant 41
- p.Tyr446Asn Single submitter
- p.Tyr446His Single submitter intellectual disability, autosomal dominant 41
- p.Val172Leu Single submitter Pierpont syndrome
- p.Asp190Tyr No assertion criteria TBL1XR1-related disorder
- p.Gly460Ser No assertion criteria intellectual disability, autosomal dominant 41
- p.Lys398Ter No assertion criteria diffuse large B-cell lymphoma
Conflicting classifications of pathogenicity 19
- c.1417-7C>G Single submitter Pierpont syndrome
- c.427+6C>T Single submitter Pierpont syndrome
- p.Ala113_Ala118dup Single submitter Pierpont syndrome
- p.Ala115Thr Single submitter Pierpont syndrome ⚠
- p.Ala116Ser Single submitter Pierpont syndrome ⚠
- p.Ala118_Ser119insAlaAlaAla Single submitter Pierpont syndrome
- p.Ala118Val Single submitter Pierpont syndrome ⚠
- p.Ala475Val Single submitter Pierpont syndrome ⚠
- p.Asn382Ser Single submitter Pierpont syndrome ⚠
- p.Gly29Asp Single submitter TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome ⚠
- p.His307Arg Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Ile394Met Single submitter Pierpont syndrome ⚠
- p.Ser119Asn Single submitter Pierpont syndrome ⚠
- p.Ser230Phe Single submitter Pierpont syndrome ⚠
- p.Ser324Ala Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Ser506= Single submitter Pierpont syndrome
- p.Thr349= Single submitter Pierpont syndrome
- p.Trp376Arg Single submitter Pierpont syndrome ⚠
- p.Val222Asp Single submitter TBL1XR1-related disorder ⚠
Benign 35
- c.1123-14T>G Multiple submitters Pierpont syndrome
- c.1123-89T>A Multiple submitters
- c.1416+25C>G Multiple submitters intellectual disability, autosomal dominant 41
- c.205-94C>T Multiple submitters
- c.59-13C>G Multiple submitters Pierpont syndrome
- c.59-141A>G Multiple submitters
- c.59-143A>G Multiple submitters
- c.59-145A>G Multiple submitters
- c.59-147A>G Multiple submitters
- c.59-155A>G Multiple submitters
- c.766+21= Multiple submitters
- c.766+5A>G Multiple submitters Pierpont syndrome
- p.Ser202= Multiple submitters Pierpont syndrome
- c.1123-14del Single submitter Pierpont syndrome
- c.1123-196dup Single submitter
- c.1416+206_1416+212del Single submitter
- c.1518+129del Single submitter
- c.427+198A>T Single submitter
- c.561-5dup Single submitter Pierpont syndrome
- c.58+191_58+192dup Single submitter
- c.59-155AC[11] Single submitter
- c.59-155AC[12] Single submitter
- c.59-155AC[13] Single submitter
- c.59-156_59-155insCGCA Single submitter
- c.59-156_59-155insCGCACA Single submitter
- c.59-163GC[5] Single submitter
- c.59-3dup Single submitter Pierpont syndrome
- c.702+111_702+112insCC Single submitter
- c.702+112_702+117del Single submitter
- c.702+134G>A Single submitter
- c.703-10del Single submitter Pierpont syndrome
- c.865-20del Single submitter Pierpont syndrome
- c.865-9del Single submitter Pierpont syndrome
- c.925+170A>G Single submitter
- c.-45-345T>C Single submitter
Benign/Likely benign 11
- c.1251-13C>G Multiple submitters Pierpont syndrome
- c.1251-8T>A Multiple submitters Pierpont syndrome
- c.1416+14A>G Multiple submitters Pierpont syndrome
- c.1417-12dup Multiple submitters Pierpont syndrome
- c.1417-16_1417-15dup Multiple submitters Pierpont syndrome
- c.1519-21_1519-18del Multiple submitters Pierpont syndrome
- c.865-19C>T Multiple submitters Pierpont syndrome
- p.Gln97= Multiple submitters Pierpont syndrome
- p.Ile30= Multiple submitters Pierpont syndrome
- p.Leu476= Multiple submitters Pierpont syndrome
- p.Pro223= Multiple submitters intellectual disability, autosomal dominant 41
Likely benign 220
- c.1250+13T>C Multiple submitters Pierpont syndrome
- c.1250+40A>G Multiple submitters
- c.1251-19T>C Multiple submitters Pierpont syndrome
- c.1518+20T>C Multiple submitters Pierpont syndrome
- c.1518+8T>C Multiple submitters Pierpont syndrome
- c.204+20A>G Multiple submitters Pierpont syndrome
- c.205-11T>C Multiple submitters Pierpont syndrome
- c.428-8C>T Multiple submitters Pierpont syndrome
- c.767-10T>C Multiple submitters Pierpont syndrome
- c.767-23_767-18del Multiple submitters Pierpont syndrome
- c.865-13_865-8del Multiple submitters Pierpont syndrome
- c.926-12G>T Multiple submitters Pierpont syndrome
- p.Ala114= Multiple submitters Pierpont syndrome
- p.Ala117= Multiple submitters Pierpont syndrome
- p.Ala271= Multiple submitters Pierpont syndrome
- p.Asn407Ser Multiple submitters Pierpont syndrome
- p.Asp294= Multiple submitters Inborn genetic diseases
- p.Gln106= Multiple submitters Pierpont syndrome
- p.Gln220= Multiple submitters Pierpont syndrome
- p.Gln264= Multiple submitters Pierpont syndrome
- p.Gly122= Multiple submitters Pierpont syndrome
- p.Gly133= Multiple submitters Pierpont syndrome
- p.Ile50= Multiple submitters Pierpont syndrome
- p.Leu57= Multiple submitters Inborn genetic diseases
- p.Pro305= Multiple submitters Inborn genetic diseases
- p.Pro46= Multiple submitters Pierpont syndrome
- p.Ter515= Multiple submitters Inborn genetic diseases
- p.Thr130= Multiple submitters Pierpont syndrome
- p.Tyr395= Multiple submitters Pierpont syndrome
- p.Val384= Multiple submitters Pierpont syndrome
- p.Val448= Multiple submitters Pierpont syndrome
- c.1123-11T>G Single submitter
- c.1123-121_1123-119del Single submitter
- c.1123-18T>C Single submitter
- c.1123-19del Single submitter Pierpont syndrome
- c.1250+16C>T Single submitter Pierpont syndrome
- c.1250+17A>G Single submitter Pierpont syndrome
- c.1250+7C>A Single submitter Pierpont syndrome
- c.1250+7C>T Single submitter Pierpont syndrome
- c.1251-10_1251-7del Single submitter Pierpont syndrome
- c.1251-10C>T Single submitter Pierpont syndrome
- c.1251-11T>A Single submitter Pierpont syndrome
- c.1251-15T>C Single submitter Pierpont syndrome
- c.1251-4T>C Single submitter Pierpont syndrome
- c.1251-9C>T Single submitter Pierpont syndrome
- c.1416+19A>G Single submitter Pierpont syndrome
- c.1416+20A>G Single submitter Pierpont syndrome
- c.1417-10A>G Single submitter Pierpont syndrome
- c.1417-19T>C Single submitter Pierpont syndrome
- c.1417-317T>C Single submitter
- c.1417-34dup Single submitter
- c.1518+14dup Single submitter Pierpont syndrome
- c.1518+18T>A Single submitter Pierpont syndrome
- c.1518+7A>G Single submitter Pierpont syndrome
- c.1518+8_1518+12del Single submitter Pierpont syndrome
- c.1519-17A>G Single submitter Pierpont syndrome
- c.204+10A>C Single submitter Pierpont syndrome
- c.204+10A>G Single submitter Pierpont syndrome
- c.204+11C>T Single submitter Pierpont syndrome
- c.204+15T>C Single submitter Pierpont syndrome
- c.204+20A>C Single submitter Pierpont syndrome
- c.204+8A>G Single submitter Pierpont syndrome
- c.204+9G>A Single submitter Pierpont syndrome
- c.205-13T>A Single submitter Pierpont syndrome
- c.205-17del Single submitter Pierpont syndrome
- c.205-24TC[2] Single submitter Pierpont syndrome
- c.205-83A>G Single submitter
- c.205-93G>A Single submitter
- c.205-9C>G Single submitter Pierpont syndrome
- c.205-9C>T Single submitter Pierpont syndrome
- c.427+15_427+17del Single submitter Pierpont syndrome
- c.427+157A>C Single submitter
- c.427+15G>T Single submitter Pierpont syndrome
- c.427+16A>G Single submitter Pierpont syndrome
- c.427+8C>G Single submitter Pierpont syndrome
- c.427+9A>T Single submitter Pierpont syndrome
- c.428-14G>A Single submitter Pierpont syndrome
- c.428-19C>A Single submitter Pierpont syndrome
- c.428-19C>T Single submitter Pierpont syndrome
- c.428-20_428-17del Single submitter Pierpont syndrome
- c.428-20A>G Single submitter Pierpont syndrome
- c.428-4G>T Single submitter Pierpont syndrome
- c.428-7G>A Single submitter Pierpont syndrome
- c.428-7G>T Single submitter Pierpont syndrome
- c.560+13A>G Single submitter Pierpont syndrome
- c.560+15G>T Single submitter Pierpont syndrome
- c.560+16T>G Single submitter Pierpont syndrome
- c.560+17G>C Single submitter Pierpont syndrome
- c.560+19T>C Single submitter Pierpont syndrome
- c.560+7T>C Single submitter Pierpont syndrome
- c.561-11T>C Single submitter Pierpont syndrome
- c.561-12A>C Single submitter Pierpont syndrome
- c.561-12A>G Single submitter Pierpont syndrome
- c.561-13C>T Single submitter Pierpont syndrome
- c.561-13del Single submitter Pierpont syndrome
- c.561-15T>C Single submitter Pierpont syndrome
- c.561-8T>C Single submitter
- c.58+14dup Single submitter Pierpont syndrome
- c.58+18G>A Single submitter Pierpont syndrome
- c.58+8C>T Single submitter Pierpont syndrome
- c.58+9T>C Single submitter Pierpont syndrome
- c.59-103G>A Single submitter
- c.59-10T>C Single submitter
- c.59-13_59-9del Single submitter Pierpont syndrome
- c.59-15_59-14del Single submitter Pierpont syndrome
- c.59-155AC[10] Single submitter
- c.59-155AC[16] Single submitter
- c.59-156_59-155insCGCACACA Single submitter
- c.59-171AC[2] Single submitter
- c.59-22_59-19del Single submitter Pierpont syndrome
- c.59-5T>C Single submitter Pierpont syndrome
- c.59-5T>G Single submitter Pierpont syndrome
- c.59-7T>G Single submitter Pierpont syndrome
- c.59-8_59-7insGT Single submitter Pierpont syndrome
- c.59-8G>T Single submitter Pierpont syndrome
- c.702+12T>C Single submitter Pierpont syndrome
- c.702+13A>G Single submitter Pierpont syndrome
- c.702+17C>T Single submitter Pierpont syndrome
- c.703-20_703-17del Single submitter Pierpont syndrome
- c.703-20G>T Single submitter Pierpont syndrome
- c.703-4G>A Single submitter Pierpont syndrome
- c.703-9C>G Single submitter Pierpont syndrome
- c.766+10G>A Single submitter Pierpont syndrome
- c.766+13T>C Single submitter Pierpont syndrome
- c.766+17C>T Single submitter Pierpont syndrome
- c.766+7G>A Single submitter Pierpont syndrome
- c.766+9A>G Single submitter Pierpont syndrome
- c.767-7A>G Single submitter Pierpont syndrome
- c.767-9G>A Single submitter Pierpont syndrome
- c.864+7del Single submitter Pierpont syndrome
- c.865-14C>T Single submitter Pierpont syndrome
- c.865-17T>C Single submitter Pierpont syndrome
- c.865-18T>G Single submitter Pierpont syndrome
- c.865-5C>G Single submitter Pierpont syndrome
- c.865-5C>T Single submitter Pierpont syndrome
- c.865-6T>A Single submitter Pierpont syndrome
- c.925+12A>T Single submitter Pierpont syndrome
- c.925+134_925+135del Single submitter
- c.925+13T>C Single submitter Pierpont syndrome
- c.925+20C>T Single submitter Pierpont syndrome
- c.925+7T>C Single submitter Pierpont syndrome
- p.Ala108= Single submitter
- p.Ala109= Single submitter
- p.Ala110= Single submitter Pierpont syndrome
- p.Ala111= Single submitter Pierpont syndrome
- p.Ala118= Single submitter Pierpont syndrome
- p.Ala185= Single submitter Pierpont syndrome
- p.Ala25= Single submitter Pierpont syndrome
- p.Ala389= Single submitter Pierpont syndrome
- p.Ala42= Single submitter Pierpont syndrome
- p.Ala475= Single submitter Pierpont syndrome
- p.Ala48= Single submitter Pierpont syndrome
- p.Ala502= Single submitter Pierpont syndrome
- p.Ala62= Single submitter Pierpont syndrome
- p.Ala86= Single submitter Pierpont syndrome
- p.Arg455= Single submitter Pierpont syndrome
- p.Arg513= Single submitter Pierpont syndrome
- p.Asn132= Single submitter Pierpont syndrome
- p.Asn391= Single submitter Pierpont syndrome
- p.Asp101= Single submitter Pierpont syndrome
- p.Asp381= Single submitter Pierpont syndrome
- p.Asp496= Single submitter Pierpont syndrome
- p.Asp504= Single submitter Pierpont syndrome
- p.Cys434= Single submitter Pierpont syndrome
- p.Gln107= Single submitter Pierpont syndrome
- p.Gln120= Single submitter Pierpont syndrome
- p.Gln302= Single submitter Pierpont syndrome
- p.Gln58= Single submitter Pierpont syndrome
- p.Glu134= Single submitter Pierpont syndrome
- p.Glu171= Single submitter Pierpont syndrome
- p.Gly153= Single submitter Pierpont syndrome
- p.Gly219= Single submitter Pierpont syndrome
- p.His139= Single submitter Pierpont syndrome
- p.His168= Single submitter Pierpont syndrome
- p.Ile157= Single submitter Pierpont syndrome
- p.Ile174= Single submitter Pierpont syndrome
- p.Ile195= Single submitter Pierpont syndrome
- p.Ile281= Single submitter Pierpont syndrome
- p.Ile39= Single submitter Pierpont syndrome
- p.Ile433= Single submitter Pierpont syndrome
- p.Ile52= Single submitter Pierpont syndrome
- p.Ile53= Single submitter Pierpont syndrome
- p.Ile66= Single submitter Pierpont syndrome
- p.Leu183= Single submitter Pierpont syndrome
- p.Leu198= Single submitter Pierpont syndrome
- p.Leu231= Single submitter Pierpont syndrome
- p.Leu240= Single submitter Pierpont syndrome
- p.Leu282= Single submitter Pierpont syndrome
- p.Leu387= Single submitter Pierpont syndrome
- p.Leu43= Single submitter Pierpont syndrome
- p.Leu49= Single submitter Pierpont syndrome
- p.Leu72= Single submitter Pierpont syndrome
- p.Lys266= Single submitter Pierpont syndrome
- p.Lys273= Single submitter Pierpont syndrome
- p.Lys464= Single submitter Pierpont syndrome
- p.Lys514= Single submitter Pierpont syndrome
- p.Phe173= Single submitter Pierpont syndrome
- p.Phe28= Single submitter Pierpont syndrome
- p.Phe280= Single submitter Pierpont syndrome
- p.Pro401= Single submitter Inborn genetic diseases
- p.Ser186= Single submitter Pierpont syndrome
- p.Ser2= Single submitter Pierpont syndrome
- p.Ser244= Single submitter Pierpont syndrome
- p.Ser260= Single submitter Pierpont syndrome
- p.Ser366= Single submitter
- p.Ser419= Single submitter Pierpont syndrome
- p.Ser422= Single submitter Pierpont syndrome
- p.Ser461= Single submitter Pierpont syndrome
- p.Thr140= Single submitter Pierpont syndrome
- p.Thr207= Single submitter Pierpont syndrome
- p.Thr238= Single submitter Pierpont syndrome
- p.Thr238= Single submitter Pierpont syndrome
- p.Thr261= Single submitter Pierpont syndrome
- p.Thr289= Single submitter Pierpont syndrome
- p.Thr471= Single submitter Pierpont syndrome
- p.Thr483= Single submitter Pierpont syndrome
- p.Tyr99= Single submitter Pierpont syndrome
- p.Val509= Single submitter Pierpont syndrome
- p.Val60= Single submitter Pierpont syndrome
- p.Val91= Single submitter Pierpont syndrome
Uncertain significance 206
- p.Ala108Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala113_Ala118del Multiple submitters Pierpont syndrome
- p.Ala116_Ala118dup Multiple submitters Pierpont syndrome
- p.Ala176Ser Multiple submitters Pierpont syndrome ⚠
- p.Ala449Val Multiple submitters Pierpont syndrome ⚠
- p.Ala47Thr Multiple submitters Pierpont syndrome ⚠
- p.Arg14Gly Multiple submitters intellectual disability, autosomal dominant 41 ⚠
- p.Arg431Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg513Trp Multiple submitters Pierpont syndrome ⚠
- p.Asn391Ser Multiple submitters Pierpont syndrome ⚠
- p.Asn40Ser Multiple submitters Pierpont syndrome ⚠
- p.Asn412Ser Multiple submitters Pierpont syndrome ⚠
- p.Asp147Glu Multiple submitters Pierpont syndrome ⚠
- p.Asp386His Multiple submitters intellectual disability, autosomal dominant 41 ⚠
- p.Asp496Asn Multiple submitters TBL1XR1-related disorder ⚠
- p.Gln93Leu Multiple submitters Pierpont syndrome ⚠
- p.Ile52Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile66Ser Multiple submitters Pierpont syndrome ⚠
- p.Lys392Glu Multiple submitters ⚠
- p.Met414Leu Multiple submitters Pierpont syndrome ⚠
- p.Ser119Thr Multiple submitters Pierpont syndrome ⚠
- p.Ser181Thr Multiple submitters Pierpont syndrome ⚠
- p.Ser199Arg Multiple submitters Pierpont syndrome ⚠
- p.Ser235Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr402Ala Multiple submitters Pierpont syndrome ⚠
- p.Thr406Ser Multiple submitters Pierpont syndrome ⚠
- p.Thr471Met Multiple submitters intellectual disability, autosomal dominant 41 ⚠
- p.Thr473Ile Multiple submitters Pierpont syndrome ⚠
- p.Val384Phe Multiple submitters Inborn genetic diseases
- p.Val44Ile Multiple submitters Pierpont syndrome ⚠
- p.Val64= Multiple submitters Pierpont syndrome
- c.1250+6A>T Single submitter Pierpont syndrome
- c.1416+4T>C Single submitter Pierpont syndrome
- c.1416+8T>G Single submitter
- c.1518+3A>G Single submitter Pierpont syndrome
- c.1518+5G>A Single submitter
- c.204_204+2dup Single submitter Pierpont syndrome
- c.205-15A>G Single submitter Pierpont syndrome
- c.205-3C>T Single submitter Pierpont syndrome
- c.560+5G>A Single submitter
- c.59-3T>C Single submitter Pierpont syndrome
- c.703-3C>T Single submitter Pierpont syndrome
- c.925+3A>G Single submitter Pierpont syndrome
- c.*2G>C Single submitter
- p.Ala110_Ala118del Single submitter Pierpont syndrome
- p.Ala110Pro Single submitter ⚠
- p.Ala114Val Single submitter Pierpont syndrome ⚠
- p.Ala116_Ala118del Single submitter Pierpont syndrome
- p.Ala117Val Single submitter Pierpont syndrome ⚠
- p.Ala118_Ser119insAlaAlaAlaAlaAlaAla Single submitter Pierpont syndrome
- p.Ala118Asp Single submitter Pierpont syndrome ⚠
- p.Ala138Gly Single submitter Pierpont syndrome ⚠
- p.Ala142Thr Single submitter Pierpont syndrome ⚠
- p.Ala176Gly Single submitter ⚠
- p.Ala259Pro Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala416Thr Single submitter Pierpont syndrome ⚠
- p.Ala42Thr Single submitter Pierpont syndrome ⚠
- p.Ala458Glu Single submitter Inborn genetic diseases ⚠
- p.Ala48Thr Single submitter Inborn genetic diseases ⚠
- p.Ala494Thr Single submitter Pierpont syndrome ⚠
- p.Ala494Val Single submitter ⚠
- p.Ala502Ser Single submitter Pierpont syndrome
- p.Ala86_Asp90del Single submitter Pierpont syndrome
- p.Ala86Pro Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Arg166Trp Single submitter
- p.Arg455Lys Single submitter Pierpont syndrome ⚠
- p.Arg481Ser Single submitter Pierpont syndrome ⚠
- p.Arg513Gln Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg95Gly Single submitter Pierpont syndrome ⚠
- p.Asn132Ser Single submitter Pierpont syndrome ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn160His Single submitter Pierpont syndrome ⚠
- p.Asn178Ser Single submitter Pierpont syndrome ⚠
- p.Asn225Ser Single submitter TBL1XR1-related disorder ⚠
- p.Asn234Asp Single submitter Pierpont syndrome ⚠
- p.Asn257Lys Single submitter ⚠
- p.Asn38Ser Single submitter Pierpont syndrome ⚠
- p.Asn391Asp Single submitter Pierpont syndrome ⚠
- p.Asn407Asp Single submitter Pierpont syndrome ⚠
- p.Asn408Asp Single submitter
- p.Asn40delinsSerGlnSerIleTyr Single submitter Pierpont syndrome
- p.Asn410His Single submitter Pierpont syndrome ⚠
- p.Asn470Asp Single submitter ⚠
- p.Asp101Glu Single submitter Pierpont syndrome ⚠
- p.Asp221Gly Single submitter ⚠
- p.Asp287His Single submitter Pierpont syndrome ⚠
- p.Asp381His Single submitter ⚠
- p.Asp430Glu Single submitter Pierpont syndrome ⚠
- p.Asp430Gly Single submitter ⚠
- p.Asp511Val Single submitter ⚠
- p.Asp69Tyr Single submitter Pierpont syndrome ⚠
- p.Asp6Gly Single submitter Pierpont syndrome ⚠
- p.Asp74Gly Single submitter ⚠
- p.Asp90Gly Single submitter Pierpont syndrome ⚠
- p.Cys214Arg Single submitter Pierpont syndrome ⚠
- p.Cys434Tyr Single submitter Pierpont syndrome ⚠
- p.Cys508Tyr Single submitter Pierpont syndrome ⚠
- p.Gln106Lys Single submitter ⚠
- p.Gln107Glu Single submitter ⚠
- p.Gln302Glu Single submitter ⚠
- p.Gln442Glu Single submitter ⚠
- p.Gln93Glu Single submitter Pierpont syndrome ⚠
- p.Gln97Glu Single submitter ⚠
- p.Glu135del Single submitter
- p.Glu135delinsAspPro Single submitter
- p.Glu156Lys Single submitter Pierpont syndrome
- p.Glu217Gln Single submitter Pierpont syndrome ⚠
- p.Gly122Arg Single submitter Pierpont syndrome ⚠
- p.Gly122Glu Single submitter Pierpont syndrome ⚠
- p.Gly187Arg Single submitter Pierpont syndrome ⚠
- p.Gly263Arg Single submitter Pierpont syndrome ⚠
- p.Gly403Glu Single submitter TBL1XR1-related disorder ⚠
- p.Gly405Glu Single submitter Pierpont syndrome
- p.Gly41Asp Single submitter Pierpont syndrome ⚠
- p.Gly485Glu Single submitter Inborn genetic diseases ⚠
- p.Gly70Arg Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Gly75Asp Single submitter ⚠
- p.His145Leu Single submitter Pierpont syndrome ⚠
- p.His213Arg Single submitter ⚠
- p.His213Asp Single submitter ⚠
- p.His296Arg Single submitter Pierpont syndrome ⚠
- p.His296Tyr Single submitter Pierpont syndrome ⚠
- p.His33Arg Single submitter Pierpont syndrome ⚠
- p.His390Arg Single submitter ⚠
- p.His441del Single submitter Pierpont syndrome
- p.Ile174Asn Single submitter Pierpont syndrome ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile30_Glu31insIle Single submitter Inborn genetic diseases
- p.Ile375Met Single submitter Pierpont syndrome ⚠
- p.Ile375Val Single submitter Pierpont syndrome ⚠
- p.Ile394Val Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Ile433Leu Single submitter ⚠
- p.Ile78Val Single submitter Pierpont syndrome ⚠
- p.Ile84Thr Single submitter Pierpont syndrome ⚠
- p.Leu103Pro Single submitter Pierpont syndrome ⚠
- p.Leu103Val Single submitter Pierpont syndrome ⚠
- p.Leu184del Single submitter Pierpont syndrome
- p.Leu258Val Single submitter
- p.Leu387Met Single submitter Pierpont syndrome
- p.Leu387Ser Single submitter Pierpont syndrome ⚠
- p.Leu426Ile Single submitter
- p.Leu81Val Single submitter Pierpont syndrome ⚠
- p.Leu83= Single submitter Pierpont syndrome
- p.Lys125Thr Single submitter Pierpont syndrome ⚠
- p.Lys226Asn Single submitter Pierpont syndrome ⚠
- p.Lys273Arg Single submitter Pierpont syndrome ⚠
- p.Lys276Arg Single submitter Pierpont syndrome ⚠
- p.Lys398Glu Single submitter ⚠
- p.Lys464Thr Single submitter ⚠
- p.Lys497Arg Single submitter Pierpont syndrome ⚠
- p.Met148Ile Single submitter Pierpont syndrome ⚠
- p.Met148Lys Single submitter ⚠
- p.Met148Thr Single submitter Pierpont syndrome ⚠
- p.Met149Ile Single submitter Pierpont syndrome ⚠
- p.Met378Leu Single submitter Pierpont syndrome ⚠
- p.Phe10Leu Single submitter Pierpont syndrome ⚠
- p.Phe21Leu Single submitter ⚠
- p.Phe420Val Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro158Thr Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Pro179Arg Single submitter ⚠
- p.Pro409Ala Single submitter Pierpont syndrome ⚠
- p.Pro409Thr Single submitter Pierpont syndrome ⚠
- p.Ser119Gly Single submitter Pierpont syndrome ⚠
- p.Ser170Pro Single submitter ⚠
- p.Ser181Asn Single submitter Pierpont syndrome ⚠
- p.Ser202Arg Single submitter Pierpont syndrome ⚠
- p.Ser204Gly Single submitter ⚠
- p.Ser206Pro Single submitter Pierpont syndrome ⚠
- p.Ser224Asn Single submitter ⚠
- p.Ser224Ile Single submitter Pierpont syndrome ⚠
- p.Ser235Asn Single submitter Pierpont syndrome ⚠
- p.Ser283Asn Single submitter ⚠
- p.Ser419Phe Single submitter ⚠
- p.Ser82Cys Single submitter ⚠
- p.Thr130Ala Single submitter ⚠
- p.Thr146Ala Single submitter Inborn genetic diseases ⚠
- p.Thr207Ala Single submitter Pierpont syndrome ⚠
- p.Thr238Ala Single submitter Pierpont syndrome ⚠
- p.Thr238Pro Single submitter Pierpont syndrome ⚠
- p.Thr242Ala Single submitter Pierpont syndrome ⚠
- p.Thr27Ile Single submitter Pierpont syndrome
- p.Thr473Ala Single submitter Pierpont syndrome ⚠
- p.Trp233_Asn234delinsCysTyr Single submitter intellectual disability, autosomal dominant 41
- p.Trp252Cys Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Tyr13Cys Single submitter Pierpont syndrome ⚠
- p.Tyr59Cys Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Tyr99Asn Single submitter ⚠
- p.Tyr99His Single submitter ⚠
- p.Val12Ile Single submitter ⚠
- p.Val151Leu Single submitter ⚠
- p.Val164Leu Single submitter Pierpont syndrome ⚠
- p.Val172Gly Single submitter ⚠
- p.Val180Ile Single submitter intellectual disability, autosomal dominant 41 ⚠
- p.Val210Gly Single submitter Pierpont syndrome ⚠
- p.Val384Ala Single submitter Pierpont syndrome
- p.Val424del Single submitter
- p.Val424Ile Single submitter Pierpont syndrome ⚠
- p.Val424Leu Single submitter Pierpont syndrome ⚠
- p.Val445Met Single submitter Pierpont syndrome ⚠
- p.Val448Ile Single submitter Pierpont syndrome ⚠
- p.Val498Ile Single submitter
- p.Val87Ile Single submitter Pierpont syndrome ⚠