SIN3B — 298 ClinVar variants
All ClinVar germline SIN3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 3 Benign · 2 Benign/Likely benign · 50 Likely benign · 237 Uncertain significance
Full SIN3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 219
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 179
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 179
- SIN3B p.Glu258Asp Uncertain significance Multiple submitters
- SIN3B p.His91Tyr Uncertain significance Multiple submitters
- SIN3B p.Pro281Ala Uncertain significance Multiple submitters
- SIN3B p.Val160Met Uncertain significance Multiple submitters
- SIN3B p.Val873Ile Uncertain significance Multiple submitters
- SIN3B c.1266+338C>T Uncertain significance Single submitter
- SIN3B c.1266+362A>C Uncertain significance Single submitter
- SIN3B c.1266+364G>A Uncertain significance Single submitter
- SIN3B p.Ala1006Val Uncertain significance Single submitter
- SIN3B p.Ala1083Val Uncertain significance Single submitter
- SIN3B p.Ala137Thr Uncertain significance Single submitter
- SIN3B p.Ala137Val Uncertain significance Single submitter
- SIN3B p.Ala13Ser Uncertain significance Single submitter
- SIN3B p.Ala165Thr Uncertain significance Single submitter
- SIN3B p.Ala282Thr Uncertain significance Single submitter
- SIN3B p.Ala374Val Uncertain significance Single submitter
- SIN3B p.Ala471Gly Uncertain significance Single submitter
- SIN3B p.Ala576Ser Uncertain significance Single submitter
- SIN3B p.Ala613Val Uncertain significance Single submitter
- SIN3B p.Ala635Val Uncertain significance Single submitter
- SIN3B p.Ala676Val Uncertain significance Single submitter
- SIN3B p.Ala715Asp Uncertain significance Single submitter
- SIN3B p.Ala721Thr Uncertain significance Single submitter
- SIN3B p.Ala890Thr Uncertain significance Single submitter
- SIN3B p.Ala901Thr Uncertain significance Single submitter
- SIN3B p.Ala916Ser Uncertain significance Single submitter
- SIN3B p.Arg1000Trp Uncertain significance Single submitter
- SIN3B p.Arg1003Cys Uncertain significance Single submitter
- SIN3B p.Arg1003His Uncertain significance Single submitter
- SIN3B p.Arg1007Gly Uncertain significance Single submitter
- SIN3B p.Arg1012Gln Uncertain significance Single submitter
- SIN3B p.Arg1046His Uncertain significance Single submitter
- SIN3B p.Arg1073His Uncertain significance Single submitter
- SIN3B p.Arg1125Cys Uncertain significance Single submitter
- SIN3B p.Arg1125Gly Uncertain significance Single submitter
- SIN3B p.Arg203Pro Uncertain significance Single submitter
- SIN3B p.Arg271Gln Uncertain significance Single submitter
- SIN3B p.Arg289Cys Uncertain significance Single submitter
- SIN3B p.Arg289His Uncertain significance Single submitter
- SIN3B p.Arg316Gln Uncertain significance Single submitter
- SIN3B p.Arg387Gln Uncertain significance Single submitter
- SIN3B p.Arg454Cys Uncertain significance Single submitter
- SIN3B p.Arg459His Uncertain significance Single submitter
- SIN3B p.Arg514Cys Uncertain significance Single submitter
- SIN3B p.Arg514His Uncertain significance Single submitter
- SIN3B p.Arg550Gln Uncertain significance Single submitter
- SIN3B p.Arg588Cys Uncertain significance Single submitter
- SIN3B p.Arg611His Uncertain significance Single submitter
- SIN3B p.Arg627Gln Uncertain significance Single submitter
- SIN3B p.Arg685Trp Uncertain significance Single submitter
- SIN3B p.Arg698Trp Uncertain significance Single submitter
- SIN3B p.Arg754Cys Uncertain significance Single submitter
- SIN3B p.Arg762Thr Uncertain significance Single submitter
- SIN3B p.Arg778Trp Uncertain significance Single submitter
- SIN3B p.Arg791Gly Uncertain significance Single submitter
- SIN3B p.Arg791His Uncertain significance Single submitter
- SIN3B p.Arg803Pro Uncertain significance Single submitter
- SIN3B p.Arg824Gln Uncertain significance Single submitter
- SIN3B p.Arg897His Uncertain significance Single submitter
- SIN3B p.Arg928Gly Uncertain significance Single submitter
- SIN3B p.Arg957Gln Uncertain significance Single submitter
- SIN3B p.Arg992His Uncertain significance Single submitter
- SIN3B p.Arg993Gln Uncertain significance Single submitter
- SIN3B p.Asn115Asp Uncertain significance Single submitter
- SIN3B p.Asn219Ser Uncertain significance Single submitter
- SIN3B p.Asn257Lys Uncertain significance Single submitter
- SIN3B p.Asn747Ser Uncertain significance Single submitter
- SIN3B p.Asp226Asn Uncertain significance Single submitter
- SIN3B p.Asp498Asn Uncertain significance Single submitter
- SIN3B p.Asp583Asn Uncertain significance Single submitter
- SIN3B p.Asp651Asn Uncertain significance Single submitter
- SIN3B p.Asp684Glu Uncertain significance Single submitter
- SIN3B p.Asp718His Uncertain significance Single submitter
- SIN3B p.Asp738Asn Uncertain significance Single submitter
- SIN3B p.Asp797Asn Uncertain significance Single submitter
- SIN3B p.Cys1106Arg Uncertain significance Single submitter
- SIN3B p.Gln1065Glu Uncertain significance Single submitter
- SIN3B p.Gln121Arg Uncertain significance Single submitter
- SIN3B p.Gln233His Uncertain significance Single submitter
- SIN3B p.Gln255Pro Uncertain significance Single submitter
- SIN3B p.Gln652Glu Uncertain significance Single submitter
- SIN3B p.Gln689His Uncertain significance Single submitter
- SIN3B p.Gln927Leu Uncertain significance Single submitter
- SIN3B p.Glu1069Gly Uncertain significance Single submitter
- SIN3B p.Glu1097Lys Uncertain significance Single submitter
- SIN3B p.Glu156Gln Uncertain significance Single submitter
- SIN3B p.Glu250Lys Uncertain significance Single submitter
- SIN3B p.Glu264Ala Uncertain significance Single submitter
- SIN3B p.Glu264Gly Uncertain significance Single submitter
- SIN3B p.Glu322Gly Uncertain significance Single submitter
- SIN3B p.Glu461Lys Uncertain significance Single submitter
- SIN3B p.Glu505Gln Uncertain significance Single submitter
- SIN3B p.Glu525Lys Uncertain significance Single submitter
- SIN3B p.Glu678Lys Uncertain significance Single submitter
-
SIN3B p.Glu780Asp
Uncertain significance
Single submitter
SIN3B-related disorder
- SIN3B p.Glu879Lys Uncertain significance Single submitter
- SIN3B p.Glu912Lys Uncertain significance Single submitter
- SIN3B p.Glu943Ala Uncertain significance Single submitter
- SIN3B p.Gly1113Ser Uncertain significance Single submitter
- SIN3B p.Gly14Ala Uncertain significance Single submitter
- SIN3B p.Gly15Arg Uncertain significance Single submitter
- SIN3B p.Gly247Arg Uncertain significance Single submitter
- SIN3B p.Gly290Ala Uncertain significance Single submitter
- SIN3B p.Gly303Glu Uncertain significance Single submitter
- SIN3B p.Gly33Asp Uncertain significance Single submitter
- SIN3B p.Gly382Glu Uncertain significance Single submitter
- SIN3B p.Gly690Glu Uncertain significance Single submitter
- SIN3B p.Gly6Ser Uncertain significance Single submitter
- SIN3B p.Gly6Val Uncertain significance Single submitter
- SIN3B p.Gly717Arg Uncertain significance Single submitter
- SIN3B p.Gly7Arg Uncertain significance Single submitter
- SIN3B p.Gly9Cys Uncertain significance Single submitter
- SIN3B p.His1063Tyr Uncertain significance Single submitter
- SIN3B p.His252Gln Uncertain significance Single submitter
- SIN3B p.Ile524Val Uncertain significance Single submitter
- SIN3B p.Ile68Thr Uncertain significance Single submitter
- SIN3B p.Leu1060Met Uncertain significance Single submitter
- SIN3B p.Leu275Phe Uncertain significance Single submitter
- SIN3B p.Leu288Pro Uncertain significance Single submitter
- SIN3B p.Leu736Arg Uncertain significance Single submitter
- SIN3B p.Leu96Phe Uncertain significance Single submitter
- SIN3B p.Lys1103Arg Uncertain significance Single submitter
- SIN3B p.Lys141Gln Uncertain significance Single submitter
-
SIN3B p.Lys268Thr
Uncertain significance
Single submitter
neurodevelopmental disorder
- SIN3B p.Lys700Arg Uncertain significance Single submitter
- SIN3B p.Met1043Val Uncertain significance Single submitter
- SIN3B p.Met251Ile Uncertain significance Single submitter
- SIN3B p.Met377Thr Uncertain significance Single submitter
- SIN3B p.Phe494Tyr Uncertain significance Single submitter
- SIN3B p.Phe65Val Uncertain significance Single submitter
- SIN3B p.Phe752Val Uncertain significance Single submitter
- SIN3B p.Pro1127Leu Uncertain significance Single submitter
- SIN3B p.Pro154Thr Uncertain significance Single submitter
- SIN3B p.Pro16Leu Uncertain significance Single submitter
- SIN3B p.Pro248Ser Uncertain significance Single submitter
- SIN3B p.Pro272Ser Uncertain significance Single submitter
- SIN3B p.Pro281Ser Uncertain significance Single submitter
- SIN3B p.Pro614Ser Uncertain significance Single submitter
- SIN3B p.Pro618Ala Uncertain significance Single submitter
- SIN3B p.Pro645Leu Uncertain significance Single submitter
- SIN3B p.Pro688Leu Uncertain significance Single submitter
- SIN3B p.Pro720Ser Uncertain significance Single submitter
- SIN3B p.Pro726Leu Uncertain significance Single submitter
- SIN3B p.Pro732Leu Uncertain significance Single submitter
- SIN3B p.Pro949Ser Uncertain significance Single submitter
- SIN3B p.Ser1008Arg Uncertain significance Single submitter
- SIN3B p.Ser11Arg Uncertain significance Single submitter
- SIN3B p.Ser126Asn Uncertain significance Single submitter
- SIN3B p.Ser31Phe Uncertain significance Single submitter
- SIN3B p.Ser504Leu Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- SIN3B p.Arg1045Cys Uncertain significance Single submitter
- SIN3B p.Arg109Gly Uncertain significance Single submitter
- SIN3B p.Arg222Trp Uncertain significance Single submitter
- SIN3B p.Arg269Cys Uncertain significance Single submitter
- SIN3B p.Arg84Ser Uncertain significance Single submitter
- SIN3B p.Arg900His Uncertain significance Single submitter
- SIN3B p.Asn530Lys Uncertain significance Single submitter
- SIN3B p.Asp426Asn Uncertain significance Single submitter
- SIN3B p.Gln197Glu Uncertain significance Single submitter
- SIN3B p.Gln508Lys Uncertain significance Single submitter
- SIN3B p.Glu1040Lys Uncertain significance Single submitter
- SIN3B p.Glu307Asp Uncertain significance Single submitter
- SIN3B p.Glu602Lys Uncertain significance Single submitter
- SIN3B p.Glu918Asp Uncertain significance Single submitter
- SIN3B p.Gly10Asp Uncertain significance Single submitter
- SIN3B p.Gly555Ala Uncertain significance Single submitter
- SIN3B p.His1031Gln Uncertain significance Single submitter
- SIN3B p.Ile112Thr Uncertain significance Single submitter
- SIN3B p.Ile861Thr Uncertain significance Single submitter
- SIN3B p.Leu636Val Uncertain significance Single submitter
- SIN3B p.Leu742Ile Uncertain significance Single submitter
- SIN3B p.Leu812Pro Uncertain significance Single submitter
- SIN3B p.Met1043Arg Uncertain significance Single submitter
- SIN3B p.Met1043Ile Uncertain significance Single submitter
- SIN3B p.Pro447Leu Uncertain significance Single submitter
- SIN3B p.Pro80Ala Uncertain significance Single submitter
- SIN3B p.Ser499Tyr Uncertain significance Single submitter
- SIN3B p.Thr1030Ile Uncertain significance Single submitter
- SIN3B p.Thr1080Met Uncertain significance Single submitter
- SIN3B p.Thr1104Met Uncertain significance Single submitter
- SIN3B p.Thr834Met Uncertain significance Single submitter
- SIN3B p.Trp909Cys Uncertain significance Single submitter
- SIN3B p.Tyr448His Uncertain significance Single submitter
- SIN3B p.Val1059Ala Uncertain significance Single submitter
- SIN3B p.Val1059Gly Uncertain significance Single submitter
- SIN3B p.Val348Ile Uncertain significance Single submitter
- SIN3B p.Val823Leu Uncertain significance Single submitter
All SIN3B variants
Pathogenic 2
- c.382-2A>G Single submitter coloboma
- p.Phe221fs Single submitter neurodevelopmental disorder
Likely pathogenic 1
- p.Gln984Ter Single submitter SIN3B-related neurodevelopmental disorder
Conflicting classifications of pathogenicity 3
- p.Arg1120Cys Single submitter ⚠
- p.Pro521Leu Single submitter ⚠
- p.Ser1129Leu Single submitter ⚠
Benign 3
- c.1266+354G>A Multiple submitters
- c.2954+6A>G Multiple submitters
- p.Ser484= No assertion criteria SIN3B-related disorder
Benign/Likely benign 2
- p.Gly12_Ala13insGlySerGly Multiple submitters
- p.Ser266Gly Multiple submitters
Likely benign 50
- p.Asp601= Multiple submitters
- p.Ser378= Multiple submitters
- c.1266+335G>A Single submitter
- c.1266+420G>C Single submitter
- c.1267-36A>G Single submitter
- c.1807-8C>A Single submitter
- c.2422+13_2422+14del Single submitter
- c.2954+20A>T Single submitter
- p.Ala374Thr Single submitter
- p.Ala999Val Single submitter
- p.Arg561= Single submitter
- p.Asn883= Single submitter
- p.Asp1021Asn Single submitter
- p.Gly5= Single submitter
- p.His1031= Single submitter
- p.His93= Single submitter
- p.Ile419= Single submitter
- p.Ile647= Single submitter
- p.Ile936= Single submitter
- p.Leu827= Single submitter
- p.Leu868= Single submitter
- p.Leu978= Single submitter
- p.Lys363= Single submitter
- p.Phe373= Single submitter
- p.Pro1115= Single submitter
- p.Pro263Leu Single submitter
- p.Pro38= Single submitter
- p.Pro728= Single submitter
- p.Pro735Leu Single submitter
- p.Ser1018= Single submitter
- p.Ser1039= Single submitter
- p.Ser253= Single submitter
- p.Ser616= Single submitter
- p.Thr1104= Single submitter
- p.Tyr958= Single submitter
- p.Val538= Single submitter
- p.Val86= Single submitter
- c.2423-4G>A No assertion criteria SIN3B-related disorder
- c.2955-7C>T No assertion criteria SIN3B-related disorder
- c.3162+5C>T No assertion criteria SIN3B-related disorder
- p.Ala374= No assertion criteria SIN3B-related disorder
- p.Arg841= No assertion criteria SIN3B-related disorder
- p.Asp463= No assertion criteria SIN3B-related disorder
- p.Leu328= No assertion criteria SIN3B-related disorder
- p.Pro701Leu No assertion criteria SIN3B-related disorder
- p.Ser122Leu No assertion criteria SIN3B-related disorder
- p.Ser677= No assertion criteria SIN3B-related disorder
- p.Thr192= No assertion criteria SIN3B-related disorder
- p.Thr503= No assertion criteria SIN3B-related disorder
- p.Thr533= No assertion criteria SIN3B-related disorder
Uncertain significance 237
- p.Ala534Thr Multiple submitters
- p.Glu258Asp Multiple submitters ⚠
- p.His91Tyr Multiple submitters ⚠
- p.Pro281Ala Multiple submitters ⚠
- p.Val160Met Multiple submitters ⚠
- p.Val873Ile Multiple submitters ⚠
- c.1266+334del Single submitter
- c.1266+338C>T Single submitter ⚠
- c.1266+362A>C Single submitter ⚠
- c.1266+364G>A Single submitter ⚠
- c.1384-2A>G Single submitter SIN3B-related disorder
- c.1623-5C>A Single submitter SIN3B-associated disorder
- c.2767-10T>A Single submitter
- c.381+1G>A Single submitter
- c.382_384del Single submitter
- c.583-2A>G Single submitter
- c.583-3C>G Single submitter
- c.939+5G>A Single submitter
- p.Ala1001fs Single submitter
- p.Ala1006Val Single submitter ⚠
- p.Ala1083Val Single submitter ⚠
- p.Ala137Thr Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala13Ser Single submitter ⚠
- p.Ala165Thr Single submitter ⚠
- p.Ala17fs Single submitter neurodevelopmental disorder
- p.Ala282Thr Single submitter ⚠
- p.Ala374Val Single submitter ⚠
- p.Ala471Gly Single submitter ⚠
- p.Ala576Ser Single submitter ⚠
- p.Ala613Val Single submitter ⚠
- p.Ala635Val Single submitter ⚠
- p.Ala676Val Single submitter ⚠
- p.Ala715Asp Single submitter ⚠
- p.Ala721Thr Single submitter ⚠
- p.Ala890Thr Single submitter ⚠
- p.Ala901Thr Single submitter ⚠
- p.Ala916Ser Single submitter ⚠
- p.Arg1000Trp Single submitter ⚠
- p.Arg1003Cys Single submitter ⚠
- p.Arg1003His Single submitter ⚠
- p.Arg1007Gly Single submitter ⚠
- p.Arg1012Gln Single submitter ⚠
- p.Arg1045Cys Single submitter ⚠
- p.Arg1046His Single submitter ⚠
- p.Arg1073His Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg1125Cys Single submitter ⚠
- p.Arg1125Gly Single submitter ⚠
- p.Arg203Pro Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg289His Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg387Gln Single submitter ⚠
- p.Arg454Cys Single submitter ⚠
- p.Arg459His Single submitter ⚠
- p.Arg514Cys Single submitter ⚠
- p.Arg514His Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg588Cys Single submitter ⚠
- p.Arg611His Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg685Trp Single submitter ⚠
- p.Arg698Trp Single submitter ⚠
- p.Arg754Cys Single submitter ⚠
- p.Arg762Thr Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg791Gly Single submitter ⚠
- p.Arg791His Single submitter ⚠
- p.Arg803Pro Single submitter ⚠
- p.Arg824Gln Single submitter ⚠
- p.Arg84Ser Single submitter ⚠
- p.Arg897His Single submitter ⚠
- p.Arg900His Single submitter ⚠
- p.Arg928Gly Single submitter ⚠
- p.Arg957Gln Single submitter ⚠
- p.Arg992His Single submitter ⚠
- p.Arg993Gln Single submitter ⚠
- p.Asn115Asp Single submitter ⚠
- p.Asn219Ser Single submitter ⚠
- p.Asn257Lys Single submitter ⚠
- p.Asn530Lys Single submitter ⚠
- p.Asn747Ser Single submitter ⚠
- p.Asp226Asn Single submitter ⚠
- p.Asp426Asn Single submitter ⚠
- p.Asp498Asn Single submitter ⚠
- p.Asp583Asn Single submitter ⚠
- p.Asp651Asn Single submitter ⚠
- p.Asp684Glu Single submitter ⚠
- p.Asp718His Single submitter ⚠
- p.Asp738Asn Single submitter ⚠
- p.Asp797Asn Single submitter ⚠
- p.Cys1106Arg Single submitter ⚠
- p.Gln1065Glu Single submitter ⚠
- p.Gln121Arg Single submitter ⚠
- p.Gln197Glu Single submitter ⚠
- p.Gln233His Single submitter ⚠
- p.Gln255Pro Single submitter ⚠
- p.Gln508Lys Single submitter ⚠
- p.Gln652Glu Single submitter ⚠
- p.Gln689His Single submitter ⚠
- p.Gln75= Single submitter SIN3B-related disorder
- p.Gln927Leu Single submitter ⚠
- p.Glu1040Lys Single submitter ⚠
- p.Glu1069Gly Single submitter ⚠
- p.Glu1097Lys Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu264Ala Single submitter ⚠
- p.Glu264Gly Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Glu322Gly Single submitter ⚠
- p.Glu461Lys Single submitter ⚠
- p.Glu505Gln Single submitter ⚠
- p.Glu525Lys Single submitter ⚠
- p.Glu602Lys Single submitter ⚠
- p.Glu678Lys Single submitter ⚠
- p.Glu780Asp Single submitter SIN3B-related disorder ⚠
- p.Glu879Lys Single submitter ⚠
- p.Glu884Gln Single submitter
- p.Glu912Lys Single submitter ⚠
- p.Glu918Asp Single submitter ⚠
- p.Glu943Ala Single submitter ⚠
- p.Gly10Asp Single submitter ⚠
- p.Gly1113Ser Single submitter ⚠
- p.Gly14Ala Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly247Arg Single submitter ⚠
- p.Gly290Ala Single submitter ⚠
- p.Gly303Glu Single submitter ⚠
- p.Gly33Asp Single submitter ⚠
- p.Gly382Glu Single submitter ⚠
- p.Gly555Ala Single submitter ⚠
- p.Gly690Glu Single submitter ⚠
- p.Gly6Ser Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly717Arg Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Gly9Cys Single submitter ⚠
- p.His1031Gln Single submitter ⚠
- p.His1063Tyr Single submitter ⚠
- p.His252Gln Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile524Val Single submitter ⚠
- p.Ile68Thr Single submitter ⚠
- p.Ile861Thr Single submitter ⚠
- p.Ile97Met Single submitter
- p.Leu1060Met Single submitter ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu288Pro Single submitter ⚠
- p.Leu636Val Single submitter ⚠
- p.Leu736Arg Single submitter ⚠
- p.Leu742Ile Single submitter ⚠
- p.Leu812Pro Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Lys1103Arg Single submitter ⚠
- p.Lys141Gln Single submitter ⚠
- p.Lys171Ter Single submitter
- p.Lys268Thr Single submitter neurodevelopmental disorder ⚠
- p.Lys700Arg Single submitter ⚠
- p.Lys929Ser Single submitter
- p.Met1043Arg Single submitter ⚠
- p.Met1043Ile Single submitter ⚠
- p.Met1043Val Single submitter ⚠
- p.Met251Ile Single submitter ⚠
- p.Met377Thr Single submitter ⚠
- p.Met822_Val823delinsIleLeu Single submitter
- p.Phe494Tyr Single submitter ⚠
- p.Phe65Val Single submitter ⚠
- p.Phe752Val Single submitter ⚠
- p.Pro1127Leu Single submitter ⚠
- p.Pro154Thr Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro248Ser Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro447Leu Single submitter ⚠
- p.Pro614Ser Single submitter ⚠
- p.Pro618Ala Single submitter ⚠
- p.Pro645Leu Single submitter ⚠
- p.Pro688Leu Single submitter ⚠
- p.Pro720Ser Single submitter ⚠
- p.Pro726Leu Single submitter ⚠
- p.Pro732Leu Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Pro949Ser Single submitter ⚠
- p.Pro94Arg Single submitter
- p.Ser1008Arg Single submitter ⚠
- p.Ser11Arg Single submitter ⚠
- p.Ser126Asn Single submitter ⚠
- p.Ser31Phe Single submitter ⚠
- p.Ser499Tyr Single submitter ⚠
- p.Ser504Leu Single submitter ⚠
- p.Ser895Phe Single submitter
- p.Ser8Gly Single submitter ⚠
- p.Ser8Ile Single submitter ⚠
- p.Ser970Arg Single submitter ⚠
- p.Ser970Ile Single submitter ⚠
- p.Ser971Leu Single submitter ⚠
- p.Thr1030Ile Single submitter ⚠
- p.Thr1030Ser Single submitter ⚠
- p.Thr1080Met Single submitter ⚠
- p.Thr1104Met Single submitter ⚠
- p.Thr1117Ile Single submitter ⚠
- p.Thr200Lys Single submitter ⚠
- p.Thr244Arg Single submitter SIN3B-related disorder ⚠
- p.Thr407Ala Single submitter ⚠
- p.Thr468Met Single submitter ⚠
- p.Thr46Ser Single submitter ⚠
- p.Thr533Ala Single submitter ⚠
- p.Thr779Ser Single submitter ⚠
- p.Thr834Met Single submitter ⚠
- p.Thr839Ala Single submitter ⚠
- p.Trp26Cys Single submitter ⚠
- p.Trp909Cys Single submitter ⚠
- p.Tyr1042Cys Single submitter
- p.Tyr448His Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Val1016Met Single submitter ⚠
- p.Val1037Met Single submitter ⚠
- p.Val1059Ala Single submitter ⚠
- p.Val1059Gly Single submitter ⚠
- p.Val1081Ala Single submitter ⚠
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