BLK — 418 ClinVar variants
All ClinVar germline BLK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 162 flagged for review →
2 Pathogenic · 21 Conflicting · 61 Benign · 18 Benign/Likely benign · 124 Likely benign · 192 Uncertain significance
Full BLK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 162
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BLK p.Arg131Trp
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Arg359Cys
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Asp327Val
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Ile308Val
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Lys325Thr
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Pro223Leu
Conflicting
Single submitter
monogenic diabetes
-
BLK p.Ser206Cys
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Val63Met
Conflicting
Single submitter
systemic lupus erythematosus
Predictors lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BLK p.Arg131Gln
Uncertain significance
Multiple submitters
BLK-related disorder
-
BLK p.Arg238Trp
Uncertain significance
Multiple submitters
monogenic diabetes
-
BLK p.Arg298Gln
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Arg466His Uncertain significance Multiple submitters
-
BLK p.Gln170His
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
-
BLK p.Gln226Pro
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Gly274Arg Uncertain significance Multiple submitters
-
BLK p.His55Arg
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Ile268Thr Uncertain significance Multiple submitters
-
BLK p.Leu381Ser
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Leu41Val Uncertain significance Multiple submitters
-
BLK p.Leu47Val
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Pro225Gln Uncertain significance Multiple submitters
-
BLK p.Pro52Thr
Uncertain significance
Multiple submitters
monogenic diabetes
- BLK p.Thr304Ile Uncertain significance Multiple submitters
- BLK p.Thr48Ser Uncertain significance Multiple submitters
-
BLK p.Trp23Arg
Uncertain significance
Multiple submitters
monogenic diabetes
-
BLK p.Val418Met
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Ala134Thr Uncertain significance Single submitter
- BLK p.Ala290Gly Uncertain significance Single submitter
-
BLK p.Ala290Ser
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Ala301Pro Uncertain significance Single submitter
- BLK p.Ala30Thr Uncertain significance Single submitter
- BLK p.Ala342Val Uncertain significance Single submitter
- BLK p.Ala345Val Uncertain significance Single submitter
-
BLK p.Ala349Val
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Ala35Thr Uncertain significance Single submitter
-
BLK p.Ala363Val
Uncertain significance
Single submitter
BLK-related disorder
- BLK p.Ala364Val Uncertain significance Single submitter
- BLK p.Ala371Val Uncertain significance Single submitter
-
BLK p.Ala403Val
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Ala470Ser Uncertain significance Single submitter
- BLK p.Ala470Thr Uncertain significance Single submitter
- BLK p.Arg104Lys Uncertain significance Single submitter
-
BLK p.Arg115Gln
Uncertain significance
Single submitter
systemic lupus erythematosus
-
BLK p.Arg131Gly
Uncertain significance
Single submitter
monogenic diabetes
- BLK p.Arg215Lys Uncertain significance Single submitter
- BLK p.Arg222His Uncertain significance Single submitter
- BLK p.Arg359Leu Uncertain significance Single submitter
- BLK p.Arg362Gln Uncertain significance Single submitter
- BLK p.Arg383Gln Uncertain significance Single submitter
-
BLK p.Arg446Cys
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Asn73Lys Uncertain significance Single submitter
- BLK p.Asp327Asn Uncertain significance Single submitter
-
BLK p.Asp386Asn
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Asp458Glu Uncertain significance Single submitter
- BLK p.Asp53Asn Uncertain significance Single submitter
- BLK p.Asp59Asn Uncertain significance Single submitter
-
BLK p.Asp59Gly
Uncertain significance
Single submitter
BLK-related disorder
- BLK p.Asp76Glu Uncertain significance Single submitter
-
BLK p.Cys374Gly
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Gln214His Uncertain significance Single submitter
- BLK p.Gln226His Uncertain significance Single submitter
- BLK p.Gln392Arg Uncertain significance Single submitter
- BLK p.Gln487Arg Uncertain significance Single submitter
- BLK p.Glu17Lys Uncertain significance Single submitter
- BLK p.Glu184Lys Uncertain significance Single submitter
- BLK p.Glu233Ala Uncertain significance Single submitter
- BLK p.Glu254Lys Uncertain significance Single submitter
-
BLK p.Glu471Gln
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Glu478Lys Uncertain significance Single submitter
- BLK p.Glu484Asp Uncertain significance Single submitter
-
BLK p.Gly146Ala
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Gly185Val Uncertain significance Single submitter
- BLK p.Gly211Val Uncertain significance Single submitter
- BLK p.Gly248Arg Uncertain significance Single submitter
- BLK p.Gly253Cys Uncertain significance Single submitter
- BLK p.Gly283Arg Uncertain significance Single submitter
-
BLK p.Gly318Arg
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Gly410Arg Uncertain significance Single submitter
- BLK p.Gly410Trp Uncertain significance Single submitter
- BLK p.Gly432Arg Uncertain significance Single submitter
- BLK p.Gly82Arg Uncertain significance Single submitter
- BLK p.Gly90Arg Uncertain significance Single submitter
- BLK p.His408Arg Uncertain significance Single submitter
- BLK p.His46Tyr Uncertain significance Single submitter
- BLK p.Ile150Asn Uncertain significance Single submitter
- BLK p.Ile150Val Uncertain significance Single submitter
- BLK p.Ile189Met Uncertain significance Single submitter
- BLK p.Ile310Thr Uncertain significance Single submitter
- BLK p.Ile351Val Uncertain significance Single submitter
- BLK p.Ile357Thr Uncertain significance Single submitter
- BLK p.Ile366Phe Uncertain significance Single submitter
- BLK p.Ile407Val Uncertain significance Single submitter
- BLK p.Leu138Phe Uncertain significance Single submitter
- BLK p.Leu162Pro Uncertain significance Single submitter
- BLK p.Leu361Arg Uncertain significance Single submitter
- BLK p.Leu425Arg Uncertain significance Single submitter
- BLK p.Leu448Pro Uncertain significance Single submitter
- BLK p.Leu47Phe Uncertain significance Single submitter
- BLK p.Lys178Asn Uncertain significance Single submitter
- BLK p.Lys20Glu Uncertain significance Single submitter
- BLK p.Lys261Gln Uncertain significance Single submitter
- BLK p.Lys265Asn Uncertain significance Single submitter
- BLK p.Lys325Arg Uncertain significance Single submitter
-
BLK p.Met79Ile
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Pro278Ala Uncertain significance Single submitter
- BLK p.Pro50Leu Uncertain significance Single submitter
- BLK p.Pro51Leu Uncertain significance Single submitter
- BLK p.Pro9Leu Uncertain significance Single submitter
- BLK p.Ser110Asn Uncertain significance Single submitter
- BLK p.Ser147Thr Uncertain significance Single submitter
- BLK p.Ser333Leu Uncertain significance Single submitter
- BLK p.Ser341Leu Uncertain significance Single submitter
- BLK p.Ser5Asn Uncertain significance Single submitter
- BLK p.Ser6Gly Uncertain significance Single submitter
- BLK p.Thr155Ser Uncertain significance Single submitter
- BLK p.Thr270Ser Uncertain significance Single submitter
-
BLK p.Tyr177Cys
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Tyr431His Uncertain significance Single submitter
-
BLK p.Tyr465His
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Tyr67His
Uncertain significance
Single submitter
monogenic diabetes
- BLK p.Val108Met Uncertain significance Single submitter
- BLK p.Val244Ala Uncertain significance Single submitter
- BLK p.Val244Ile Uncertain significance Single submitter
- BLK p.Val266Leu Uncertain significance Single submitter
- BLK p.Val266Met Uncertain significance Single submitter
-
BLK p.Val28Ile
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Val418Gly Uncertain significance Single submitter
- BLK p.Val4Leu Uncertain significance Single submitter
-
BLK p.His46Arg
Uncertain significance
No assertion criteria
BLK-related disorder
- BLK p.Leu3Pro Uncertain significance No assertion criteria
Predictors split 32
The independent predictors disagree with each other — read with care.
-
BLK p.Arg180His
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
-
BLK p.Gly451Ser
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
-
BLK p.Ile338Thr
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Met454Ile Uncertain significance Multiple submitters
-
BLK p.Phe112Ser
Benign/Likely benign
Multiple submitters
monogenic diabetes
-
BLK p.Pro191Thr
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
- BLK p.Pro457Ala Uncertain significance Multiple submitters
-
BLK p.Thr270Met
Uncertain significance
Multiple submitters
maturity-onset diabetes of the young type 11
-
BLK p.Ala391Thr
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Arg104Ile
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Arg192Gly Conflicting Single submitter
- BLK p.Arg295Pro Uncertain significance Single submitter
-
BLK p.Arg353Cys
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Arg433Trp Uncertain significance Single submitter
-
BLK p.Cys319Phe
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Gln292Leu Uncertain significance Single submitter
- BLK p.Gln487Lys Uncertain significance Single submitter
- BLK p.Glu370Gln Uncertain significance Single submitter
- BLK p.Glu393Ala Uncertain significance Single submitter
- BLK p.Glu479Lys Uncertain significance Single submitter
- BLK p.Glu491Lys Uncertain significance Single submitter
- BLK p.Gly185Glu Uncertain significance Single submitter
- BLK p.Leu201Val Uncertain significance Single submitter
-
BLK p.Lys84Asn
Uncertain significance
Single submitter
systemic lupus erythematosus
- BLK p.Pro191Arg Uncertain significance Single submitter
-
BLK p.Pro225Leu
Conflicting
Single submitter
maturity-onset diabetes of the young type 11
-
BLK p.Pro457Leu
Uncertain significance
Single submitter
maturity-onset diabetes of the young type 11
- BLK p.Ser356Pro Uncertain significance Single submitter
- BLK p.Thr168Ile Uncertain significance Single submitter
- BLK p.Val428Ala Uncertain significance Single submitter
- BLK p.Pro455Ala Uncertain significance No assertion criteria
-
BLK p.Tyr350His
Pathogenic
No assertion criteria
systemic lupus erythematosus
All BLK variants
Pathogenic 2
- p.Pro307Ala No assertion criteria systemic lupus erythematosus
- p.Tyr350His No assertion criteria systemic lupus erythematosus ⚠
Conflicting classifications of pathogenicity 21
- c.369-10C>T Single submitter
- c.473-7C>G Single submitter maturity-onset diabetes of the young type 11
- c.620-11C>T Single submitter maturity-onset diabetes of the young type 11
- c.*338T>G Single submitter maturity-onset diabetes of the young type 11
- p.Ala224= Single submitter maturity-onset diabetes of the young type 11
- p.Ala363= Single submitter maturity-onset diabetes of the young type 11
- p.Arg131Trp Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Arg192Gly Single submitter ⚠
- p.Arg353Cys Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Arg359Cys Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Asp327Val Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Gly253= Single submitter
- p.Ile308Val Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Lys27= Single submitter
- p.Lys325Thr Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Pro223= Single submitter
- p.Pro223Leu Single submitter monogenic diabetes ⚠
- p.Pro225Leu Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Pro51= Single submitter maturity-onset diabetes of the young type 11
- p.Ser206Cys Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Val63Met Single submitter systemic lupus erythematosus ⚠
Benign 61
- c.1029+25A>G Multiple submitters
- c.1029+50C>T Multiple submitters
- c.1030-133T>C Multiple submitters
- c.1030-38C>T Multiple submitters systemic lupus erythematosus
- c.1030-45G>A Multiple submitters
- c.1180+64G>C Multiple submitters
- c.123+255G>A Multiple submitters
- c.123+260G>A Multiple submitters
- c.123+88G>T Multiple submitters systemic lupus erythematosus
- c.124-193G>A Multiple submitters
- c.1312+25C>G Multiple submitters
- c.1313-28C>T Multiple submitters systemic lupus erythematosus
- c.1313-54C>A Multiple submitters
- c.1313-91T>C Multiple submitters
- c.175+157C>G Multiple submitters
- c.176-104G>A Multiple submitters systemic lupus erythematosus
- c.176-167T>G Multiple submitters
- c.270-125G>A Multiple submitters
- c.473-188A>C Multiple submitters
- c.772+140C>T Multiple submitters
- c.772+17G>A Multiple submitters maturity-onset diabetes of the young type 11
- c.772+199T>C Multiple submitters
- c.773-154G>C Multiple submitters
- c.773-274C>T Multiple submitters
- c.-1-105C>G Multiple submitters systemic lupus erythematosus
- c.-1-53G>A Multiple submitters systemic lupus erythematosus
- c.-1-83G>A Multiple submitters
- c.-46A>G Multiple submitters maturity-onset diabetes of the young type 11
- c.*428G>A Multiple submitters maturity-onset diabetes of the young type 11
- c.*92G>C Multiple submitters maturity-onset diabetes of the young type 11
- p.Gln86= Multiple submitters systemic lupus erythematosus
- p.Phe281= Multiple submitters maturity-onset diabetes of the young type 11
- p.Ser110= Multiple submitters systemic lupus erythematosus
- c.1029+247T>A Single submitter
- c.1029+265C>T Single submitter
- c.1181-193T>C Single submitter
- c.1181-267G>A Single submitter
- c.1312+279G>A Single submitter
- c.1312+311C>A Single submitter
- c.1313-158C>T Single submitter
- c.176-200C>A Single submitter
- c.176-205C>T Single submitter
- c.176-292G>A Single submitter
- c.269+218C>A Single submitter
- c.270-176G>A Single submitter
- c.270-291C>A Single submitter
- c.368+184T>C Single submitter
- c.368+269T>C Single submitter
- c.472+271G>A Single submitter
- c.472+314T>G Single submitter
- c.472+340G>C Single submitter
- c.473-7C>T Single submitter
- c.772+341C>G Single submitter
- c.952+46C>A Single submitter
- c.952+95del Single submitter
- c.953-287C>G Single submitter
- c.-1-254C>A Single submitter
- c.-1-278T>G Single submitter
- c.*444C>A Single submitter maturity-onset diabetes of the young type 11
- p.Phe409= Single submitter
- p.Val101Ile No assertion criteria systemic lupus erythematosus
Benign/Likely benign 18
- c.269+13G>C Multiple submitters maturity-onset diabetes of the young type 11
- c.472+12G>A Multiple submitters maturity-onset diabetes of the young type 11
- c.*176C>T Multiple submitters maturity-onset diabetes of the young type 11
- c.*348C>G Multiple submitters maturity-onset diabetes of the young type 11
- p.Ala71Thr Multiple submitters maturity-onset diabetes of the young type 11
- p.Arg238Gln Multiple submitters monogenic diabetes
- p.Arg446= Multiple submitters maturity-onset diabetes of the young type 11
- p.Arg450His Multiple submitters maturity-onset diabetes of the young type 11
- p.Asp34= Multiple submitters systemic lupus erythematosus
- p.Asp59Glu Multiple submitters maturity-onset diabetes of the young type 11
- p.Gln251= Multiple submitters systemic lupus erythematosus
- p.His293= Multiple submitters maturity-onset diabetes of the young type 11
- p.Ile142Val Multiple submitters maturity-onset diabetes of the young type 11
- p.Lys13= Multiple submitters systemic lupus erythematosus
- p.Phe112Ser Multiple submitters monogenic diabetes ⚠
- p.Pro237= Multiple submitters systemic lupus erythematosus
- p.Pro39Leu Multiple submitters maturity-onset diabetes of the young type 11
- p.Ser341Ala Multiple submitters monogenic diabetes
Likely benign 124
- c.175+31C>G Multiple submitters
- c.269+18C>A Multiple submitters
- c.368+13G>A Multiple submitters maturity-onset diabetes of the young type 11
- c.368+15G>A Multiple submitters
- c.369-175G>A Multiple submitters
- c.619+11G>A Multiple submitters
- c.619+46C>T Multiple submitters
- c.620-6A>C Multiple submitters
- c.772+16C>T Multiple submitters maturity-onset diabetes of the young type 11
- c.772+216G>A Multiple submitters
- c.952+13G>A Multiple submitters
- p.Arg474= Multiple submitters
- p.Arg75Gly Multiple submitters maturity-onset diabetes of the young type 11
- p.Asp417= Multiple submitters
- p.Gln31= Multiple submitters maturity-onset diabetes of the young type 11
- p.Ile193= Multiple submitters
- p.Leu247= Multiple submitters
- p.Pro225= Multiple submitters maturity-onset diabetes of the young type 11
- p.Pro36= Multiple submitters
- p.Pro457= Multiple submitters maturity-onset diabetes of the young type 11
- p.Pro9= Multiple submitters maturity-onset diabetes of the young type 11
- p.Ser197= Multiple submitters maturity-onset diabetes of the young type 11
- p.Ser6= Multiple submitters maturity-onset diabetes of the young type 11
- p.Val287Met Multiple submitters maturity-onset diabetes of the young type 11
- p.Val42= Multiple submitters
- p.Val434= Multiple submitters maturity-onset diabetes of the young type 11
- c.1029+10G>A Single submitter
- c.1030-151G>T Single submitter
- c.1030-19C>G Single submitter
- c.1030-9T>C Single submitter
- c.1180+11C>T Single submitter
- c.1180+13C>T Single submitter
- c.1180+18C>T Single submitter
- c.1181-264C>T Single submitter
- c.1181-4A>G Single submitter
- c.124-19T>C Single submitter
- c.1312+11C>A Single submitter
- c.1312+160C>T Single submitter
- c.1312+16C>T Single submitter
- c.175+153G>A Single submitter
- c.175+154G>C Single submitter
- c.175+18G>A Single submitter
- c.175+7A>G Single submitter
- c.269+13G>T Single submitter
- c.269+183G>A Single submitter
- c.269+231C>T Single submitter
- c.270-34A>G Single submitter
- c.368+10C>T Single submitter
- c.368+18C>T Single submitter
- c.369-9G>A Single submitter
- c.472+163T>C Single submitter
- c.472+20C>T Single submitter
- c.472+333C>T Single submitter
- c.473-209C>T Single submitter
- c.619+12C>T Single submitter
- c.619+44C>A Single submitter
- c.772+11G>A Single submitter
- c.772+8T>C Single submitter
- c.773-10C>T Single submitter
- c.773-11C>T Single submitter
- c.773-40C>G Single submitter
- c.952+12C>G Single submitter
- c.952+12C>T Single submitter
- c.952+20C>T Single submitter
- c.953-14T>A Single submitter
- c.953-195G>A Single submitter
- c.953-226G>T Single submitter
- c.953-87T>G Single submitter
- c.953-94G>A Single submitter
- c.*371C>A Single submitter maturity-onset diabetes of the young type 11
- p.Ala145Thr Single submitter
- p.Ala159= Single submitter
- p.Ala230= Single submitter
- p.Ala342= Single submitter
- p.Ala403= Single submitter
- p.Arg127= Single submitter
- p.Arg136= Single submitter
- p.Arg298= Single submitter
- p.Arg353His Single submitter
- p.Arg480= Single submitter
- p.Asp210= Single submitter
- p.Gln226= Single submitter
- p.Glu117= Single submitter
- p.Glu122= Single submitter
- p.Glu133= Single submitter
- p.Glu152= Single submitter
- p.Glu284= Single submitter
- p.Glu313= Single submitter
- p.Gly171= Single submitter
- p.Gly185= Single submitter
- p.Gly2= Single submitter
- p.Gly438= Single submitter
- p.His46= Single submitter
- p.Ile376= Single submitter
- p.Leu100= Single submitter
- p.Leu149= Single submitter
- p.Leu173Val Single submitter
- p.Leu332= Single submitter
- p.Leu337= Single submitter
- p.Leu448= Single submitter
- p.Lys132= Single submitter
- p.Lys246= Single submitter
- p.Lys265= Single submitter
- p.Phe112= Single submitter
- p.Phe44= Single submitter
- p.Phe62= Single submitter
- p.Pro14= Single submitter
- p.Pro196= Single submitter
- p.Pro228= Single submitter
- p.Pro462= Single submitter
- p.Pro477= Single submitter
- p.Ser24= Single submitter
- p.Ser488= Single submitter
- p.Thr155= Single submitter
- p.Thr495= Single submitter
- p.Thr497= Single submitter
- p.Thr70= Single submitter
- p.Tyr300= Single submitter
- p.Val43= Single submitter
- c.1029+7G>A No assertion criteria BLK-related disorder
- c.1313-8del No assertion criteria BLK-related disorder
- c.269+3G>A No assertion criteria BLK-related disorder
- p.Asn355= No assertion criteria BLK-related disorder
- p.Leu182= No assertion criteria BLK-related disorder
Uncertain significance 192
- p.Arg131Gln Multiple submitters BLK-related disorder ⚠
- p.Arg180His Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Arg238Trp Multiple submitters monogenic diabetes ⚠
- p.Arg295Trp Multiple submitters maturity-onset diabetes of the young type 11
- p.Arg298Gln Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Arg466His Multiple submitters ⚠
- p.Asp68Val Multiple submitters
- p.Cys213= Multiple submitters maturity-onset diabetes of the young type 11
- p.Gln170His Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Gln226Pro Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Glu491fs Multiple submitters
- p.Gly274Arg Multiple submitters ⚠
- p.Gly451Ser Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.His55Arg Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Ile268Thr Multiple submitters ⚠
- p.Ile338Thr Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Leu381Ser Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Leu41Val Multiple submitters ⚠
- p.Leu47Val Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Met454Ile Multiple submitters ⚠
- p.Pro191Thr Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Pro225Gln Multiple submitters ⚠
- p.Pro457Ala Multiple submitters ⚠
- p.Pro52Thr Multiple submitters monogenic diabetes ⚠
- p.Thr270Met Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- p.Thr304Ile Multiple submitters ⚠
- p.Thr48Ser Multiple submitters ⚠
- p.Trp23Arg Multiple submitters monogenic diabetes ⚠
- p.Val418Met Multiple submitters maturity-onset diabetes of the young type 11 ⚠
- c.1181-1G>A Single submitter
- c.175+4A>G Single submitter
- c.269+2T>A Single submitter
- c.773-9C>T Single submitter maturity-onset diabetes of the young type 11
- c.-124C>T Single submitter maturity-onset diabetes of the young type 11
- c.-203C>T Single submitter maturity-onset diabetes of the young type 11
- c.-47C>T Single submitter maturity-onset diabetes of the young type 11
- c.-76G>A Single submitter maturity-onset diabetes of the young type 11
- c.*130G>T Single submitter maturity-onset diabetes of the young type 11
- c.*161C>G Single submitter maturity-onset diabetes of the young type 11
- c.*209C>G Single submitter maturity-onset diabetes of the young type 11
- c.*214C>T Single submitter maturity-onset diabetes of the young type 11
- c.*229G>C Single submitter maturity-onset diabetes of the young type 11
- c.*271G>A Single submitter maturity-onset diabetes of the young type 11
- c.*289G>A Single submitter maturity-onset diabetes of the young type 11
- c.*324G>A Single submitter maturity-onset diabetes of the young type 11
- c.*366G>A Single submitter maturity-onset diabetes of the young type 11
- c.*376C>T Single submitter maturity-onset diabetes of the young type 11
- c.*42A>G Single submitter maturity-onset diabetes of the young type 11
- c.*461G>A Single submitter maturity-onset diabetes of the young type 11
- p.Ala134Thr Single submitter ⚠
- p.Ala290Gly Single submitter ⚠
- p.Ala290Ser Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Ala301Pro Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala345Val Single submitter ⚠
- p.Ala349Val Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala363Val Single submitter BLK-related disorder ⚠
- p.Ala364Val Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Ala391Thr Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Ala403Val Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Ala470Ser Single submitter ⚠
- p.Ala470Thr Single submitter ⚠
- p.Arg104Ile Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Arg104Lys Single submitter ⚠
- p.Arg115Gln Single submitter systemic lupus erythematosus ⚠
- p.Arg115Ter Single submitter
- p.Arg131Gly Single submitter monogenic diabetes ⚠
- p.Arg192fs Single submitter
- p.Arg215Lys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg238fs Single submitter
- p.Arg295Pro Single submitter ⚠
- p.Arg298Ter Single submitter
- p.Arg359Leu Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg383Gln Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg446Cys Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Asn73Lys Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp386Asn Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Asp458= Single submitter maturity-onset diabetes of the young type 11
- p.Asp458Glu Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Asp59Asn Single submitter ⚠
- p.Asp59Gly Single submitter BLK-related disorder ⚠
- p.Asp76Glu Single submitter ⚠
- p.Cys319Phe Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Cys374Gly Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Gln214His Single submitter ⚠
- p.Gln226His Single submitter ⚠
- p.Gln292Leu Single submitter ⚠
- p.Gln392Arg Single submitter ⚠
- p.Gln487Arg Single submitter ⚠
- p.Gln487Lys Single submitter ⚠
- p.Glu135Ala Single submitter
- p.Glu172Ter Single submitter
- p.Glu17Lys Single submitter ⚠
- p.Glu184Lys Single submitter ⚠
- p.Glu233Ala Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu370Gln Single submitter ⚠
- p.Glu393Ala Single submitter ⚠
- p.Glu471Gln Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Glu478fs Single submitter
- p.Glu478Lys Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu484Asp Single submitter ⚠
- p.Glu491Lys Single submitter ⚠
- p.Glu83fs Single submitter maturity-onset diabetes of the young type 11
- p.Gly146Ala Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly185Val Single submitter ⚠
- p.Gly211Val Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly253Cys Single submitter ⚠
- p.Gly283Arg Single submitter ⚠
- p.Gly2Val Single submitter
- p.Gly318Arg Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Gly410Arg Single submitter ⚠
- p.Gly410Trp Single submitter ⚠
- p.Gly432Arg Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.His408Arg Single submitter ⚠
- p.His46Tyr Single submitter ⚠
- p.Ile150Asn Single submitter ⚠
- p.Ile150Val Single submitter ⚠
- p.Ile189Met Single submitter ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile357Thr Single submitter ⚠
- p.Ile366Phe Single submitter ⚠
- p.Ile407Val Single submitter ⚠
- p.Leu138Phe Single submitter ⚠
- p.Leu162Pro Single submitter ⚠
- p.Leu201Val Single submitter ⚠
- p.Leu361Arg Single submitter ⚠
- p.Leu425Arg Single submitter ⚠
- p.Leu448Pro Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Lys157= Single submitter
- p.Lys178Asn Single submitter ⚠
- p.Lys20Glu Single submitter ⚠
- p.Lys261Gln Single submitter ⚠
- p.Lys265Asn Single submitter ⚠
- p.Lys325Arg Single submitter ⚠
- p.Lys84Asn Single submitter systemic lupus erythematosus ⚠
- p.Met79Ile Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Pro191Arg Single submitter ⚠
- p.Pro278Ala Single submitter ⚠
- p.Pro457Leu Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser110Asn Single submitter ⚠
- p.Ser147Thr Single submitter ⚠
- p.Ser333Leu Single submitter ⚠
- p.Ser341Leu Single submitter ⚠
- p.Ser356Pro Single submitter ⚠
- p.Ser5Asn Single submitter ⚠
- p.Ser6Gly Single submitter ⚠
- p.Thr155Ser Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr270= Single submitter maturity-onset diabetes of the young type 11
- p.Thr270Ser Single submitter ⚠
- p.Thr275Ile Single submitter maturity-onset diabetes of the young type 11
- p.Trp95Ter Single submitter BLK-related disorder
- p.Tyr177Cys Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Tyr431His Single submitter ⚠
- p.Tyr436= Single submitter maturity-onset diabetes of the young type 11
- p.Tyr465His Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Tyr67His Single submitter monogenic diabetes ⚠
- p.Val108Met Single submitter ⚠
- p.Val244Ala Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val266Leu Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val28= Single submitter maturity-onset diabetes of the young type 11
- p.Val28Ile Single submitter maturity-onset diabetes of the young type 11 ⚠
- p.Val418Gly Single submitter ⚠
- p.Val423Leu Single submitter
- p.Val428Ala Single submitter ⚠
- p.Val4Leu Single submitter ⚠
- c.620-5T>G No assertion criteria BLK-related disorder
- p.His46Arg No assertion criteria BLK-related disorder ⚠
- p.Leu3Pro No assertion criteria ⚠
- p.Pro455Ala No assertion criteria ⚠
- p.Pro477Thr No assertion criteria BLK-related disorder