BACH2 — 569 ClinVar variants
All ClinVar germline BACH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 339 flagged for review →
1 Pathogenic · 11 Conflicting · 21 Benign · 4 Benign/Likely benign · 192 Likely benign · 340 Uncertain significance
Full BACH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 339
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.
- BACH2 p.Ala224Thr Conflicting Single submitter
- BACH2 p.Ala300Thr Conflicting Single submitter
- BACH2 p.Ala304Val Conflicting Single submitter
- BACH2 p.Ala327Thr Conflicting Single submitter
- BACH2 p.Ala437Thr Conflicting Single submitter
- BACH2 p.Asn244Ser Conflicting Single submitter
- BACH2 p.Gln184Arg Conflicting Single submitter
- BACH2 p.Glu157Lys Conflicting Single submitter
-
BACH2 p.Thr319Ala
Conflicting
Single submitter
immunodeficiency 60
- BACH2 p.Tyr385Cys Conflicting Single submitter
- BACH2 p.Val397Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 264
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 264
-
BACH2 p.Ala148Val
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Ala304Glu Uncertain significance Multiple submitters
- BACH2 p.Ala479Val Uncertain significance Multiple submitters
- BACH2 p.Ala529Val Uncertain significance Multiple submitters
- BACH2 p.Ala747Val Uncertain significance Multiple submitters
- BACH2 p.Ala756Val Uncertain significance Multiple submitters
- BACH2 p.Ala761Ser Uncertain significance Multiple submitters
- BACH2 p.Arg111His Uncertain significance Multiple submitters
- BACH2 p.Arg144Gln Uncertain significance Multiple submitters
- BACH2 p.Arg258Gln Uncertain significance Multiple submitters
- BACH2 p.Arg311Gln Uncertain significance Multiple submitters
-
BACH2 p.Arg311Trp
Uncertain significance
Multiple submitters
BACH2-related disorder
- BACH2 p.Arg576Gln Uncertain significance Multiple submitters
- BACH2 p.Arg609Gly Uncertain significance Multiple submitters
- BACH2 p.Arg679His Uncertain significance Multiple submitters
- BACH2 p.Arg715Gln Uncertain significance Multiple submitters
- BACH2 p.Arg85Lys Uncertain significance Multiple submitters
- BACH2 p.Arg85Thr Uncertain significance Multiple submitters
- BACH2 p.Asn789Thr Uncertain significance Multiple submitters
- BACH2 p.Cys149Tyr Uncertain significance Multiple submitters
- BACH2 p.Cys676Tyr Uncertain significance Multiple submitters
-
BACH2 p.Gln378His
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Gln552His Uncertain significance Multiple submitters
-
BACH2 p.Gln578Lys
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Gln711Arg Uncertain significance Multiple submitters
- BACH2 p.Glu209Lys Uncertain significance Multiple submitters
-
BACH2 p.Gly471Ser
Uncertain significance
Multiple submitters
BACH2-related disorder
- BACH2 p.Gly492Val Uncertain significance Multiple submitters
- BACH2 p.Gly778Arg Uncertain significance Multiple submitters
-
BACH2 p.His446Arg
Uncertain significance
Multiple submitters
BACH2-related disorder
- BACH2 p.Ile432Val Uncertain significance Multiple submitters
-
BACH2 p.Ile744Val
Uncertain significance
Multiple submitters
BACH2-related disorder
- BACH2 p.Leu266Phe Uncertain significance Multiple submitters
- BACH2 p.Lys374Asn Uncertain significance Multiple submitters
-
BACH2 p.Pro152Leu
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Pro280Thr Uncertain significance Multiple submitters
-
BACH2 p.Pro368Ser
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Pro461Leu Uncertain significance Multiple submitters
- BACH2 p.Pro512Ala Uncertain significance Multiple submitters
-
BACH2 p.Pro512Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 3
- BACH2 p.Pro731Ser Uncertain significance Multiple submitters
- BACH2 p.Pro776Thr Uncertain significance Multiple submitters
- BACH2 p.Pro801Leu Uncertain significance Multiple submitters
- BACH2 p.Ser288Arg Uncertain significance Multiple submitters
- BACH2 p.Ser409Leu Uncertain significance Multiple submitters
- BACH2 p.Ser77Thr Uncertain significance Multiple submitters
- BACH2 p.Ser815Arg Uncertain significance Multiple submitters
- BACH2 p.Thr803Ile Uncertain significance Multiple submitters
- BACH2 p.Thr841Ser Uncertain significance Multiple submitters
- BACH2 p.Val335Ala Uncertain significance Multiple submitters
- BACH2 p.Val402Met Uncertain significance Multiple submitters
-
BACH2 p.Val468Leu
Uncertain significance
Multiple submitters
BACH2-related disorder
-
BACH2 p.Val575Ala
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Val766Met Uncertain significance Multiple submitters
- BACH2 p.Val820Leu Uncertain significance Multiple submitters
- BACH2 p.Ala160Val Uncertain significance Single submitter
- BACH2 p.Ala179Val Uncertain significance Single submitter
- BACH2 p.Ala195Val Uncertain significance Single submitter
- BACH2 p.Ala196Thr Uncertain significance Single submitter
- BACH2 p.Ala196Val Uncertain significance Single submitter
- BACH2 p.Ala205Thr Uncertain significance Single submitter
- BACH2 p.Ala224Val Uncertain significance Single submitter
- BACH2 p.Ala317Pro Uncertain significance Single submitter
- BACH2 p.Ala324Gly Uncertain significance Single submitter
- BACH2 p.Ala327Pro Uncertain significance Single submitter
- BACH2 p.Ala336Pro Uncertain significance Single submitter
- BACH2 p.Ala369Pro Uncertain significance Single submitter
- BACH2 p.Ala418Ser Uncertain significance Single submitter
-
BACH2 p.Ala418Val
Uncertain significance
Single submitter
immunodeficiency 60
- BACH2 p.Ala529Pro Uncertain significance Single submitter
- BACH2 p.Ala741Val Uncertain significance Single submitter
- BACH2 p.Ala756Glu Uncertain significance Single submitter
- BACH2 p.Ala761Thr Uncertain significance Single submitter
- BACH2 p.Ala774Thr Uncertain significance Single submitter
- BACH2 p.Ala774Val Uncertain significance Single submitter
- BACH2 p.Ala775Thr Uncertain significance Single submitter
- BACH2 p.Arg103Ser Uncertain significance Single submitter
- BACH2 p.Arg117His Uncertain significance Single submitter
- BACH2 p.Arg151His Uncertain significance Single submitter
- BACH2 p.Arg182Gly Uncertain significance Single submitter
- BACH2 p.Arg303Gly Uncertain significance Single submitter
- BACH2 p.Arg303Lys Uncertain significance Single submitter
- BACH2 p.Arg311Gly Uncertain significance Single submitter
- BACH2 p.Arg31Gln Uncertain significance Single submitter
- BACH2 p.Arg333Ser Uncertain significance Single submitter
- BACH2 p.Arg342Lys Uncertain significance Single submitter
- BACH2 p.Arg412Lys Uncertain significance Single submitter
- BACH2 p.Arg428Gln Uncertain significance Single submitter
- BACH2 p.Arg428Trp Uncertain significance Single submitter
- BACH2 p.Arg429Lys Uncertain significance Single submitter
- BACH2 p.Arg495Gln Uncertain significance Single submitter
- BACH2 p.Arg49Pro Uncertain significance Single submitter
- BACH2 p.Arg509Cys Uncertain significance Single submitter
- BACH2 p.Arg576Gly Uncertain significance Single submitter
- BACH2 p.Arg657Leu Uncertain significance Single submitter
- BACH2 p.Arg666Lys Uncertain significance Single submitter
- BACH2 p.Arg728Gln Uncertain significance Single submitter
- BACH2 p.Asn261Asp Uncertain significance Single submitter
- BACH2 p.Asn261Ser Uncertain significance Single submitter
- BACH2 p.Asn284Ile Uncertain significance Single submitter
- BACH2 p.Asn404Ser Uncertain significance Single submitter
- BACH2 p.Asn72Thr Uncertain significance Single submitter
- BACH2 p.Asn765Ser Uncertain significance Single submitter
- BACH2 p.Asn789Ile Uncertain significance Single submitter
- BACH2 p.Asp123His Uncertain significance Single submitter
- BACH2 p.Asp211Asn Uncertain significance Single submitter
- BACH2 p.Asp215Ala Uncertain significance Single submitter
- BACH2 p.Asp215Gly Uncertain significance Single submitter
- BACH2 p.Asp223Gly Uncertain significance Single submitter
- BACH2 p.Asp34Gly Uncertain significance Single submitter
- BACH2 p.Asp38Gly Uncertain significance Single submitter
- BACH2 p.Asp455Gly Uncertain significance Single submitter
- BACH2 p.Asp457Glu Uncertain significance Single submitter
- BACH2 p.Asp488Asn Uncertain significance Single submitter
- BACH2 p.Asp569Gly Uncertain significance Single submitter
- BACH2 p.Asp620Tyr Uncertain significance Single submitter
- BACH2 p.Asp629Asn Uncertain significance Single submitter
- BACH2 p.Asp649Asn Uncertain significance Single submitter
- BACH2 p.Asp839Gly Uncertain significance Single submitter
- BACH2 p.Cys156Tyr Uncertain significance Single submitter
- BACH2 p.Cys292Ser Uncertain significance Single submitter
- BACH2 p.Cys328Ser Uncertain significance Single submitter
- BACH2 p.Cys340Ser Uncertain significance Single submitter
- BACH2 p.Cys420Ser Uncertain significance Single submitter
- BACH2 p.Cys438Tyr Uncertain significance Single submitter
-
BACH2 p.Cys550Phe
Uncertain significance
Single submitter
immunodeficiency 60
- BACH2 p.Cys581Tyr Uncertain significance Single submitter
- BACH2 p.Cys768Tyr Uncertain significance Single submitter
- BACH2 p.Cys769Tyr Uncertain significance Single submitter
- BACH2 p.Gln130Lys Uncertain significance Single submitter
- BACH2 p.Gln227Arg Uncertain significance Single submitter
- BACH2 p.Gln361Lys Uncertain significance Single submitter
- BACH2 p.Gln583Arg Uncertain significance Single submitter
- BACH2 p.Gln753Glu Uncertain significance Single submitter
- BACH2 p.Gln759Lys Uncertain significance Single submitter
- BACH2 p.Glu114Gln Uncertain significance Single submitter
- BACH2 p.Glu154Asp Uncertain significance Single submitter
- BACH2 p.Glu154Lys Uncertain significance Single submitter
- BACH2 p.Glu209Asp Uncertain significance Single submitter
- BACH2 p.Glu297Asp Uncertain significance Single submitter
- BACH2 p.Glu308Lys Uncertain significance Single submitter
- BACH2 p.Glu460Lys Uncertain significance Single submitter
- BACH2 p.Glu47Ala Uncertain significance Single submitter
- BACH2 p.Glu514Asp Uncertain significance Single submitter
- BACH2 p.Glu582Lys Uncertain significance Single submitter
- BACH2 p.Glu645Asp Uncertain significance Single submitter
-
BACH2 p.Glu806Gln
Uncertain significance
Single submitter
immunodeficiency 60
- BACH2 p.Glu806Gly Uncertain significance Single submitter
- BACH2 p.Glu80Asp Uncertain significance Single submitter
- BACH2 p.Gly139Ser Uncertain significance Single submitter
Predictors split 64
The independent predictors disagree with each other — read with care.
-
BACH2 p.Asp34Asn
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis
-
BACH2 p.Glu788Lys
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Gly586Arg Uncertain significance Multiple submitters
- BACH2 p.Pro772Leu Uncertain significance Multiple submitters
-
BACH2 p.Ser476Ile
Uncertain significance
Multiple submitters
immunodeficiency 60
- BACH2 p.Thr321Met Uncertain significance Multiple submitters
- BACH2 p.Val212Met Uncertain significance Multiple submitters
- BACH2 p.Arg107Cys Uncertain significance Single submitter
- BACH2 p.Arg107His Uncertain significance Single submitter
- BACH2 p.Arg144Trp Uncertain significance Single submitter
- BACH2 p.Arg258Trp Uncertain significance Single submitter
- BACH2 p.Arg495Gly Uncertain significance Single submitter
- BACH2 p.Arg662His Uncertain significance Single submitter
- BACH2 p.Arg728Trp Uncertain significance Single submitter
- BACH2 p.Asn28Ser Uncertain significance Single submitter
- BACH2 p.Asn628Lys Uncertain significance Single submitter
- BACH2 p.Asp4Tyr Uncertain significance Single submitter
- BACH2 p.Asp73Val Uncertain significance Single submitter
- BACH2 p.Cys500Phe Uncertain significance Single submitter
- BACH2 p.Cys683Tyr Uncertain significance Single submitter
- BACH2 p.Glu162Ala Uncertain significance Single submitter
- BACH2 p.Glu162Gln Uncertain significance Single submitter
- BACH2 p.Glu164Asp Uncertain significance Single submitter
- BACH2 p.Glu168Gly Uncertain significance Single submitter
- BACH2 p.Glu169Ala Uncertain significance Single submitter
- BACH2 p.Glu283Lys Uncertain significance Single submitter
- BACH2 p.Glu286Lys Uncertain significance Single submitter
- BACH2 p.Glu297Lys Uncertain significance Single submitter
- BACH2 p.Glu423Val Uncertain significance Single submitter
- BACH2 p.Glu602Asp Uncertain significance Single submitter
- BACH2 p.Glu721Lys Uncertain significance Single submitter
- BACH2 p.Glu825Lys Uncertain significance Single submitter
- BACH2 p.Gly450Trp Uncertain significance Single submitter
- BACH2 p.Gly534Glu Uncertain significance Single submitter
- BACH2 p.Ile432Phe Uncertain significance Single submitter
- BACH2 p.Ile504Met Uncertain significance Single submitter
- BACH2 p.Leu293Arg Uncertain significance Single submitter
- BACH2 p.Leu557Ile Uncertain significance Single submitter
- BACH2 p.Lys276Asn Uncertain significance Single submitter
- BACH2 p.Lys505Arg Benign Single submitter
- BACH2 p.Phe126Leu Uncertain significance Single submitter
- BACH2 p.Pro10Ser Uncertain significance Single submitter
- BACH2 p.Pro279Leu Uncertain significance Single submitter
- BACH2 p.Pro279Thr Uncertain significance Single submitter
- BACH2 p.Pro316His Uncertain significance Single submitter
- BACH2 p.Pro320Arg Uncertain significance Single submitter
- BACH2 p.Pro511Ser Uncertain significance Single submitter
- BACH2 p.Ser136Arg Uncertain significance Single submitter
-
BACH2 p.Ser255Arg
Likely benign
Single submitter
immunodeficiency 60
- BACH2 p.Ser332Tyr Uncertain significance Single submitter
-
BACH2 p.Ser334Asn
Uncertain significance
Single submitter
immunodeficiency 60
- BACH2 p.Ser358Arg Uncertain significance Single submitter
- BACH2 p.Ser360Thr Uncertain significance Single submitter
- BACH2 p.Ser435Phe Uncertain significance Single submitter
- BACH2 p.Ser444Leu Uncertain significance Single submitter
- BACH2 p.Ser447Phe Uncertain significance Single submitter
- BACH2 p.Ser449Phe Uncertain significance Single submitter
- BACH2 p.Ser476Asn Uncertain significance Single submitter
- BACH2 p.Ser481Tyr Uncertain significance Single submitter
- BACH2 p.Ser520Pro Uncertain significance Single submitter
- BACH2 p.Thr359Ile Uncertain significance Single submitter
- BACH2 p.Tyr528Asn Uncertain significance Single submitter
- BACH2 p.Tyr729His Uncertain significance Single submitter
- BACH2 p.Leu615Ile Uncertain significance No assertion criteria
All BACH2 variants
Pathogenic 1
- p.Leu24Pro No assertion criteria immunodeficiency 60
Conflicting classifications of pathogenicity 11
- p.Ala224Thr Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Asn244Ser Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Thr319Ala Single submitter immunodeficiency 60 ⚠
- p.Tyr385Cys Single submitter ⚠
- p.Val397Leu Single submitter ⚠
Benign 21
- p.Ala418Thr Multiple submitters
- p.Asn765= Multiple submitters
- p.Leu291Val Multiple submitters
- p.Pro357= Multiple submitters
- p.Pro501= Multiple submitters
- p.Pro720= Multiple submitters
- p.Ser787= Multiple submitters
- p.Thr83= Multiple submitters immunodeficiency 60
- p.Val502= Multiple submitters immunodeficiency 60
- c.2043+104C>G Single submitter
- c.-13+26030T>G Single submitter
- c.-13+50T>C Single submitter
- p.Ala56= Single submitter
- p.Asn284= Single submitter
- p.Gln694= Single submitter
- p.Glu701= Single submitter
- p.Ile110= Single submitter
- p.Lys505Arg Single submitter ⚠
- p.Ser409= Single submitter
- p.Ser520= Single submitter
- c.*10T>A No assertion criteria BACH2-related disorder
Benign/Likely benign 4
- p.Ala195Thr Multiple submitters
- p.Ala479Thr Multiple submitters
- p.Glu5= Multiple submitters immunodeficiency 60
- p.Thr819= Multiple submitters
Likely benign 192
- p.Ala148= Multiple submitters
- p.Ala304= Multiple submitters
- p.Ala529= Multiple submitters
- p.Arg151Pro Multiple submitters
- p.Cys340= Multiple submitters
- p.Gln835= Multiple submitters
- p.Glu806Asp Multiple submitters immunodeficiency 60
- p.Gly415Glu Multiple submitters
- p.Gly88= Multiple submitters
- p.His648= Multiple submitters
- c.1836+12A>C Single submitter
- c.1837-11C>T Single submitter
- c.1837-20T>C Single submitter
- c.1837-7G>A Single submitter
- c.2043+11C>T Single submitter
- c.2043+8G>A Single submitter
- c.2044-11C>T Single submitter
- c.2044-21_2044-20del Single submitter
- c.2044-4C>T Single submitter
- c.2044-7T>C Single submitter
- c.243+13G>A Single submitter
- c.243+13G>T Single submitter
- c.244-20T>C Single submitter
- c.*7G>A Single submitter
- p.Ala194= Single submitter
- p.Ala195= Single submitter
- p.Ala224= Single submitter
- p.Ala326= Single submitter
- p.Ala336= Single submitter
- p.Ala365= Single submitter
- p.Ala369= Single submitter
- p.Ala437= Single submitter
- p.Ala470= Single submitter
- p.Ala487= Single submitter
- p.Ala50= Single submitter
- p.Ala57= Single submitter
- p.Ala65= Single submitter
- p.Ala659= Single submitter
- p.Ala660= Single submitter
- p.Ala725= Single submitter
- p.Ala747= Single submitter
- p.Ala751= Single submitter
- p.Ala756= Single submitter
- p.Ala774= Single submitter
- p.Ala97= Single submitter
- p.Arg107= Single submitter
- p.Arg303= Single submitter
- p.Arg311= Single submitter
- p.Arg333= Single submitter
- p.Arg429= Single submitter
- p.Arg45= Single submitter
- p.Arg52= Single submitter
- p.Arg664= Single submitter
- p.Arg728= Single submitter
- p.Arg795= Single submitter
- p.Arg837= Single submitter
- p.Arg85= Single submitter
- p.Asn105= Single submitter
- p.Asn673= Single submitter
- p.Asn745= Single submitter
- p.Asp223= Single submitter
- p.Asp296= Single submitter
- p.Asp299= Single submitter
- p.Asp38= Single submitter
- p.Asp531= Single submitter
- p.Asp591= Single submitter
- p.Asp8= Single submitter
- p.Asp833= Single submitter
- p.Cys156= Single submitter
- p.Cys543= Single submitter
- p.Cys730= Single submitter
- p.Cys760= Single submitter
- p.Cys823= Single submitter
- p.Gln227= Single submitter
- p.Gln274= Single submitter
- p.Gln378= Single submitter
- p.Gln478= Single submitter
- p.Gln759= Single submitter
- p.Glu114= Single submitter
- p.Glu166= Single submitter
- p.Glu193= Single submitter
- p.Glu203= Single submitter
- p.Glu283= Single submitter
- p.Glu645= Single submitter
- p.Glu712= Single submitter
- p.Glu752= Single submitter
- p.Glu80= Single submitter
- p.Gly273= Single submitter
- p.Gly305Arg Single submitter
- p.Gly355= Single submitter
- p.Gly390= Single submitter
- p.Gly408= Single submitter
- p.Gly471= Single submitter
- p.Gly483Ser Single submitter
- p.Gly763= Single submitter
- p.Gly773= Single submitter
- p.Gly778= Single submitter
- p.Gly808= Single submitter
- p.His248= Single submitter
- p.His396= Single submitter
- p.His482= Single submitter
- p.Ile579Val Single submitter
- p.Ile658= Single submitter
- p.Ile755Leu Single submitter
- p.Leu116= Single submitter
- p.Leu133= Single submitter
- p.Leu207= Single submitter
- p.Leu236= Single submitter
- p.Leu24= Single submitter
- p.Leu25= Single submitter
- p.Leu341= Single submitter
- p.Leu344= Single submitter
- p.Leu353= Single submitter
- p.Leu55= Single submitter
- p.Leu703= Single submitter
- p.Leu733= Single submitter
- p.Leu738= Single submitter
- p.Leu770= Single submitter
- p.Lys145= Single submitter
- p.Lys374= Single submitter
- p.Lys400= Single submitter
- p.Lys46= Single submitter
- p.Phe405= Single submitter
- p.Pro181= Single submitter
- p.Pro198= Single submitter
- p.Pro208= Single submitter
- p.Pro279= Single submitter
- p.Pro318= Single submitter
- p.Pro323= Single submitter
- p.Pro395Ser Single submitter
- p.Pro461= Single submitter
- p.Pro475= Single submitter
- p.Pro512= Single submitter
- p.Pro605= Single submitter
- p.Pro616= Single submitter
- p.Pro720Thr Single submitter
- p.Pro739= Single submitter
- p.Pro767= Single submitter
- p.Pro777= Single submitter
- p.Pro779= Single submitter
- p.Pro780= Single submitter
- p.Pro801= Single submitter
- p.Pro89= Single submitter
- p.Ser124= Single submitter
- p.Ser136= Single submitter
- p.Ser159= Single submitter
- p.Ser255Arg Single submitter immunodeficiency 60 ⚠
- p.Ser334= Single submitter
- p.Ser337= Single submitter
- p.Ser360= Single submitter
- p.Ser430= Single submitter
- p.Ser434= Single submitter
- p.Ser436= Single submitter
- p.Ser444= Single submitter
- p.Ser449= Single submitter
- p.Ser477= Single submitter
- p.Ser510= Single submitter
- p.Ser524= Single submitter
- p.Ser533= Single submitter
- p.Ser546= Single submitter
- p.Ser548= Single submitter
- p.Ser593= Single submitter
- p.Ser595= Single submitter
- p.Ser597= Single submitter
- p.Ser815= Single submitter
- p.Thr131= Single submitter
- p.Thr175= Single submitter
- p.Thr226= Single submitter
- p.Thr290= Single submitter
- p.Thr321= Single submitter
- p.Thr348= Single submitter
- p.Thr515= Single submitter
- p.Thr640= Single submitter
- p.Thr740= Single submitter
- p.Thr827= Single submitter
- p.Tyr12= Single submitter
- p.Tyr14= Single submitter
- p.Tyr243= Single submitter
- p.Tyr385= Single submitter
- p.Tyr480= Single submitter
- p.Tyr526= Single submitter
- p.Tyr528= Single submitter
- p.Tyr585= Single submitter
- p.Tyr840= Single submitter
- p.Val109= Single submitter
- p.Val307= Single submitter
- p.Val402= Single submitter
- p.Val451Leu Single submitter
- p.Val619= Single submitter
- p.Val682= Single submitter
- p.Val75= Single submitter
- p.Val820Met Single submitter
Uncertain significance 340
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala148Val Multiple submitters immunodeficiency 60 ⚠
- p.Ala304Glu Multiple submitters ⚠
- p.Ala479Val Multiple submitters ⚠
- p.Ala529Val Multiple submitters ⚠
- p.Ala747Val Multiple submitters ⚠
- p.Ala756Val Multiple submitters ⚠
- p.Ala761Ser Multiple submitters ⚠
- p.Arg111His Multiple submitters ⚠
- p.Arg144Gln Multiple submitters ⚠
- p.Arg258Gln Multiple submitters ⚠
- p.Arg311Gln Multiple submitters ⚠
- p.Arg311Trp Multiple submitters BACH2-related disorder ⚠
- p.Arg576Gln Multiple submitters ⚠
- p.Arg609Gly Multiple submitters ⚠
- p.Arg679His Multiple submitters ⚠
- p.Arg715Gln Multiple submitters ⚠
- p.Arg85Lys Multiple submitters ⚠
- p.Arg85Thr Multiple submitters ⚠
- p.Asn789Thr Multiple submitters ⚠
- p.Asp34Asn Multiple submitters autosomal recessive congenital ichthyosis ⚠
- p.Cys149Tyr Multiple submitters ⚠
- p.Cys676Tyr Multiple submitters ⚠
- p.Gln378His Multiple submitters immunodeficiency 60 ⚠
- p.Gln552His Multiple submitters ⚠
- p.Gln578Lys Multiple submitters immunodeficiency 60 ⚠
- p.Gln711Arg Multiple submitters ⚠
- p.Glu209Lys Multiple submitters ⚠
- p.Glu788Lys Multiple submitters immunodeficiency 60 ⚠
- p.Gly471Ser Multiple submitters BACH2-related disorder ⚠
- p.Gly492Val Multiple submitters ⚠
- p.Gly586Arg Multiple submitters ⚠
- p.Gly778Arg Multiple submitters ⚠
- p.His446Arg Multiple submitters BACH2-related disorder ⚠
- p.Ile432Val Multiple submitters ⚠
- p.Ile744Val Multiple submitters BACH2-related disorder ⚠
- p.Leu266Phe Multiple submitters ⚠
- p.Lys374Asn Multiple submitters ⚠
- p.Pro152Leu Multiple submitters immunodeficiency 60 ⚠
- p.Pro280Thr Multiple submitters ⚠
- p.Pro368Ser Multiple submitters immunodeficiency 60 ⚠
- p.Pro461Leu Multiple submitters ⚠
- p.Pro512Ala Multiple submitters ⚠
- p.Pro512Thr Multiple submitters primary ciliary dyskinesia 3 ⚠
- p.Pro731Ser Multiple submitters ⚠
- p.Pro772Leu Multiple submitters ⚠
- p.Pro776Thr Multiple submitters ⚠
- p.Pro801Leu Multiple submitters ⚠
- p.Ser288Arg Multiple submitters ⚠
- p.Ser409Leu Multiple submitters ⚠
- p.Ser476Ile Multiple submitters immunodeficiency 60 ⚠
- p.Ser77Thr Multiple submitters ⚠
- p.Ser815Arg Multiple submitters ⚠
- p.Thr321Met Multiple submitters ⚠
- p.Thr803Ile Multiple submitters ⚠
- p.Thr841Ser Multiple submitters ⚠
- p.Val212Met Multiple submitters ⚠
- p.Val335Ala Multiple submitters ⚠
- p.Val402Met Multiple submitters ⚠
- p.Val468Leu Multiple submitters BACH2-related disorder ⚠
- p.Val575Ala Multiple submitters immunodeficiency 60 ⚠
- p.Val766Met Multiple submitters ⚠
- p.Val820Leu Multiple submitters ⚠
- c.1837-5T>A Single submitter
- c.1837-8G>A Single submitter
- c.243+5A>G Single submitter
- p.Ala160Val Single submitter ⚠
- p.Ala179Val Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala317Pro Single submitter ⚠
- p.Ala324Gly Single submitter ⚠
- p.Ala327Pro Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Ala369Pro Single submitter ⚠
- p.Ala418Ser Single submitter ⚠
- p.Ala418Val Single submitter immunodeficiency 60 ⚠
- p.Ala529Pro Single submitter ⚠
- p.Ala741Val Single submitter ⚠
- p.Ala756Glu Single submitter ⚠
- p.Ala761Thr Single submitter ⚠
- p.Ala774Thr Single submitter ⚠
- p.Ala774Val Single submitter ⚠
- p.Ala775Thr Single submitter ⚠
- p.Arg103Ser Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg182Gly Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg303Gly Single submitter ⚠
- p.Arg303Lys Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg333Ser Single submitter ⚠
- p.Arg342Lys Single submitter ⚠
- p.Arg412Lys Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg428Trp Single submitter ⚠
- p.Arg429Lys Single submitter ⚠
- p.Arg495Gln Single submitter ⚠
- p.Arg495Gly Single submitter ⚠
- p.Arg49Pro Single submitter ⚠
- p.Arg509Cys Single submitter ⚠
- p.Arg576Gly Single submitter ⚠
- p.Arg657Leu Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg666Lys Single submitter ⚠
- p.Arg728Gln Single submitter ⚠
- p.Arg728Trp Single submitter ⚠
- p.Arg795del Single submitter
- p.Asn261Asp Single submitter ⚠
- p.Asn261Ser Single submitter ⚠
- p.Asn284Ile Single submitter ⚠
- p.Asn28Ser Single submitter ⚠
- p.Asn404Ser Single submitter ⚠
- p.Asn628Lys Single submitter ⚠
- p.Asn72Thr Single submitter ⚠
- p.Asn765Ser Single submitter ⚠
- p.Asn789Ile Single submitter ⚠
- p.Asp123His Single submitter ⚠
- p.Asp211Asn Single submitter ⚠
- p.Asp215Ala Single submitter ⚠
- p.Asp215Gly Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Asp34Gly Single submitter ⚠
- p.Asp38Gly Single submitter ⚠
- p.Asp455Gly Single submitter ⚠
- p.Asp457Glu Single submitter ⚠
- p.Asp488Asn Single submitter ⚠
- p.Asp4Tyr Single submitter ⚠
- p.Asp569Gly Single submitter ⚠
- p.Asp620Tyr Single submitter ⚠
- p.Asp629Asn Single submitter ⚠
- p.Asp649Asn Single submitter ⚠
- p.Asp73Val Single submitter ⚠
- p.Asp839Gly Single submitter ⚠
- p.Cys156Tyr Single submitter ⚠
- p.Cys292Ser Single submitter ⚠
- p.Cys328Ser Single submitter ⚠
- p.Cys340Ser Single submitter ⚠
- p.Cys420Ser Single submitter ⚠
- p.Cys438Tyr Single submitter ⚠
- p.Cys500Phe Single submitter ⚠
- p.Cys550Phe Single submitter immunodeficiency 60 ⚠
- p.Cys581Tyr Single submitter ⚠
- p.Cys683Tyr Single submitter ⚠
- p.Cys768Tyr Single submitter ⚠
- p.Cys769Tyr Single submitter ⚠
- p.Gln130Lys Single submitter ⚠
- p.Gln227Arg Single submitter ⚠
- p.Gln361Lys Single submitter ⚠
- p.Gln583Arg Single submitter ⚠
- p.Gln753Glu Single submitter ⚠
- p.Gln759Lys Single submitter ⚠
- p.Glu114Gln Single submitter ⚠
- p.Glu154Asp Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Glu162Ala Single submitter ⚠
- p.Glu162Gln Single submitter ⚠
- p.Glu164Asp Single submitter ⚠
- p.Glu164del Single submitter
- p.Glu168Gly Single submitter ⚠
- p.Glu169Ala Single submitter ⚠
- p.Glu209Asp Single submitter ⚠
- p.Glu283Lys Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu297Asp Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu308Lys Single submitter ⚠
- p.Glu423Val Single submitter ⚠
- p.Glu460Lys Single submitter ⚠
- p.Glu47Ala Single submitter ⚠
- p.Glu514Asp Single submitter ⚠
- p.Glu582Lys Single submitter ⚠
- p.Glu602Asp Single submitter ⚠
- p.Glu645Asp Single submitter ⚠
- p.Glu721Lys Single submitter ⚠
- p.Glu806Gln Single submitter immunodeficiency 60 ⚠
- p.Glu806Gly Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Glu825Lys Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly273Ala Single submitter ⚠
- p.Gly305Glu Single submitter ⚠
- p.Gly325Glu Single submitter ⚠
- p.Gly375Glu Single submitter ⚠
- p.Gly415Ala Single submitter ⚠
- p.Gly450Trp Single submitter ⚠
- p.Gly465_Trp467del Single submitter
- p.Gly465Val Single submitter ⚠
- p.Gly471Arg Single submitter ⚠
- p.Gly492Arg Single submitter ⚠
- p.Gly534Glu Single submitter ⚠
- p.Gly534Trp Single submitter ⚠
- p.Gly610Asp Single submitter ⚠
- p.Gly778fs Single submitter
- p.Gly798Asp Single submitter ⚠
- p.Gly798Cys Single submitter ⚠
- p.His19Leu Single submitter ⚠
- p.His248Asp Single submitter ⚠
- p.His446Tyr Single submitter ⚠
- p.His482Tyr Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Ile197Asn Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Ile432Phe Single submitter ⚠
- p.Ile504Met Single submitter ⚠
- p.Ile504Val Single submitter ⚠
- p.Ile717Met Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Leu293Arg Single submitter ⚠
- p.Leu454Phe Single submitter ⚠
- p.Leu474Val Single submitter ⚠
- p.Leu485Pro Single submitter ⚠
- p.Leu557Ile Single submitter ⚠
- p.Leu689Trp Single submitter ⚠
- p.Leu709Val Single submitter ⚠
- p.Leu796Val Single submitter ⚠
- p.Lys177Arg Single submitter ⚠
- p.Lys217Thr Single submitter ⚠
- p.Lys267Asn Single submitter immunodeficiency 60 ⚠
- p.Lys276Asn Single submitter ⚠
- p.Lys301Glu Single submitter ⚠
- p.Lys349Glu Single submitter ⚠
- p.Lys638Arg Single submitter ⚠
- p.Lys665Arg Single submitter ⚠
- p.Lys680Arg Single submitter ⚠
- p.Lys685Arg Single submitter ⚠
- p.Lys829Ter Single submitter
- p.Met11Leu Single submitter ⚠
- p.Met178Ile Single submitter ⚠
- p.Met407Val Single submitter ⚠
- p.Met494Thr Single submitter ⚠
- p.Met567Val Single submitter ⚠
- p.Phe126Leu Single submitter ⚠
- p.Phe253Val Single submitter ⚠
- p.Phe388Leu Single submitter ⚠
- p.Phe433del Single submitter
- p.Phe804Ser Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro279Thr Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro316His Single submitter ⚠
- p.Pro316Ser Single submitter ⚠
- p.Pro316Thr Single submitter ⚠
- p.Pro318Ala Single submitter ⚠
- p.Pro320Arg Single submitter ⚠
- p.Pro320Ser Single submitter ⚠
- p.Pro511Ser Single submitter ⚠
- p.Pro512Ser Single submitter ⚠
- p.Pro720Ser Single submitter ⚠
- p.Pro735Ser Single submitter ⚠
- p.Pro772Thr Single submitter
- p.Pro776Ala Single submitter ⚠
- p.Pro776Leu Single submitter ⚠
- p.Pro776Ser Single submitter ⚠
- p.Pro779Ser Single submitter ⚠
- p.Pro780Arg Single submitter ⚠
- p.Pro780fs Single submitter
- p.Pro780Leu Single submitter ⚠
- p.Pro780Ser Single submitter ⚠
- p.Pro7Ser Single submitter ⚠
- p.Pro810Ser Single submitter ⚠
- p.Ser102Asn Single submitter ⚠
- p.Ser136Arg Single submitter ⚠
- p.Ser219Gly Single submitter ⚠
- p.Ser247del Single submitter
- p.Ser249Asn Single submitter ⚠
- p.Ser315Gly Single submitter ⚠
- p.Ser332Tyr Single submitter ⚠
- p.Ser334Asn Single submitter immunodeficiency 60 ⚠
- p.Ser339Pro Single submitter ⚠
- p.Ser358Arg Single submitter ⚠
- p.Ser360Thr Single submitter ⚠
- p.Ser435Phe Single submitter ⚠
- p.Ser436del Single submitter
- p.Ser442Asn Single submitter ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser447Phe Single submitter ⚠
- p.Ser449Phe Single submitter ⚠
- p.Ser452Gly Single submitter ⚠
- p.Ser459Pro Single submitter ⚠
- p.Ser473Pro Single submitter ⚠
- p.Ser476Asn Single submitter ⚠
- p.Ser477Ala Single submitter ⚠
- p.Ser477Leu Single submitter ⚠
- p.Ser481Tyr Single submitter ⚠
- p.Ser520Pro Single submitter ⚠
- p.Ser548Leu Single submitter ⚠
- p.Ser593Tyr Single submitter ⚠
- p.Ser641Ala Single submitter ⚠