BLNK — 384 ClinVar variants
All ClinVar germline BLNK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →
6 Pathogenic · 8 Likely pathogenic · 5 Conflicting · 46 Benign · 3 Benign/Likely benign · 172 Likely benign · 144 Uncertain significance
Full BLNK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 135
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.
-
BLNK p.Ala240Val
Conflicting
Single submitter
Inborn genetic diseases
-
BLNK p.Ile308Thr
Conflicting
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Val341Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BLNK p.Ala176Val
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala218Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Ala290Val
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala92Asp
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala92Thr
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg282Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Arg372Trp
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg399Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asn91Lys
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp366Glu
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp69Gly
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gln17Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Glu62Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly249Arg
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ile32Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Leu15Phe
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro199Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Pro345Ser
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser374Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Thr216Ala
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Val182Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Val435Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Val85Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Ala155Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala240Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala299Val
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala53Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ala88Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg123Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg227Gln
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg372Gln
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
- BLNK p.Arg427Lys Uncertain significance Single submitter
-
BLNK p.Asn213His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asn74His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp24Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp2Val
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp438Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp66Glu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp67Glu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp71Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Cys271Tyr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Cys343Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gln126Arg
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gln160Arg
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu145Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu173Lys
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu272Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu279Gln
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu77Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly170Asp
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly222Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Gly249Glu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly420Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.His191Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.His377Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.His431Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ile276Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Ile371Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ile426Phe
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Leu112Pro
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Leu171Phe
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Leu434Phe
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Met83Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Phe132Cys
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Phe369Tyr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Phe68Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro110Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro199Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro220Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro324Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro98Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro98Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser125Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Ser229Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser243Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Ser269Arg
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser70Arg
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser70Gly
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser95Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Thr254Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Thr258Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BLNK p.Thr333Ser Uncertain significance Single submitter
-
BLNK p.Val101Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Val422Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Val9Ile
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
Predictors split 47
The independent predictors disagree with each other — read with care.
-
BLNK p.Asn441Tyr
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Glu60Lys
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly30Arg
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro294Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro309Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser125Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Ser12Cys
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser439Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Ser439Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLNK p.Arg247Gln
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Arg280His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asn27Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Asn34Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asn441Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Asp174Val
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Asp186Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Asp66Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gln440Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Glu29Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Glu89Lys
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Gly415Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
- BLNK p.His23Arg Uncertain significance Single submitter
-
BLNK p.Leu18Phe
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Lys380Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Met21Thr
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Met83Ile
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro107Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro140Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro140Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Pro154Ala
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro162Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro204His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro244Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Pro277Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro298Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro309His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro311Leu
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Pro345Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Ser219Cys
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Thr216Met
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Thr253Met
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Thr443Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLNK p.Trp64Ser
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Tyr451Asn
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Tyr451His
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Val206Met
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
-
BLNK p.Val85Met
Uncertain significance
Single submitter
agammaglobulinemia 4, autosomal recessive
All BLNK variants
Pathogenic 6
- c.676+1G>A Single submitter agammaglobulinemia 4, autosomal recessive
- p.Arg399Ter Single submitter agammaglobulinemia 4, autosomal recessive
- p.Lys344fs Single submitter agammaglobulinemia 4, autosomal recessive
- p.Tyr84Ter Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val9fs Single submitter agammaglobulinemia 4, autosomal recessive
- c.47+3A>T No assertion criteria agammaglobulinemia 4, autosomal recessive
Likely pathogenic 8
- c.902+2T>C Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.113+2T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.746+1G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-2A>G Single submitter agammaglobulinemia 4, autosomal recessive
- p.Arg49Ter Single submitter agammaglobulinemia 4, autosomal recessive
- p.Glu89fs Single submitter BLNK-related disorder
- p.Glu97Ter Single submitter agammaglobulinemia 4, autosomal recessive
- p.Trp142Ter No assertion criteria BLNK-related disorder
Conflicting classifications of pathogenicity 5
- c.205-15C>T Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala240Val Single submitter Inborn genetic diseases ⚠
- p.Ile308Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu39= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val341Ile Single submitter Inborn genetic diseases ⚠
Benign 46
- c.1095+195G>A Multiple submitters
- c.1095+65_1095+67del Multiple submitters
- c.1096-11A>T Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.1096-83G>C Multiple submitters
- c.164-9C>T Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.205-213G>T Multiple submitters
- c.205-56C>T Multiple submitters
- c.361+22G>C Multiple submitters
- c.361+71G>A Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.362-147C>T Multiple submitters
- c.362-173C>G Multiple submitters
- c.362-17T>C Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.48-52T>A Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.525+56G>A Multiple submitters
- c.526-5G>C Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.608-42TA[9] Multiple submitters
- c.677-31T>C Multiple submitters
- c.746+225C>G Multiple submitters
- c.902+131T>C Multiple submitters
- c.902+134G>A Multiple submitters
- c.902+27G>C Multiple submitters
- c.935-141C>A Multiple submitters
- c.935-179C>T Multiple submitters
- c.935-235G>A Multiple submitters
- p.Arg16= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Pro57= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Ser65= Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.1012-155T>C Single submitter
- c.1096-16A>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.1096-17del Single submitter agammaglobulinemia 4, autosomal recessive
- c.1096-9dup Single submitter agammaglobulinemia 4, autosomal recessive
- c.114-263C>T Single submitter
- c.1252-234_1252-231del Single submitter
- c.361+242ACAA[6] Single submitter
- c.362-206G>A Single submitter
- c.48-5dup Single submitter agammaglobulinemia 4, autosomal recessive
- c.525+302C>T Single submitter
- c.608-127A>G Single submitter
- c.608-22CA[5] Single submitter agammaglobulinemia 4, autosomal recessive
- c.608-42TA[8] Single submitter
- c.676+210T>C Single submitter
- c.775-12del Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+274del Single submitter
- c.-5A>G Single submitter
- p.Glu90= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro44= Single submitter agammaglobulinemia 4, autosomal recessive
Benign/Likely benign 3
- p.Ala158Ser Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Ala248= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Ala88Thr Multiple submitters agammaglobulinemia 4, autosomal recessive
Likely benign 172
- c.608-7G>A Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Ala155= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Asp59= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Pro107= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Pro98= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Ser70= Multiple submitters agammaglobulinemia 4, autosomal recessive
- p.Tyr52= Multiple submitters agammaglobulinemia 4, autosomal recessive
- c.1011+10G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.1011+14T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.1011+19A>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.1012-11C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.1012-15C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.1012-4A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.1096-17T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.1096-6A>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.113+10C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.113+14T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.113+8C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.113+9G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.114-11G>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.1251+13T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.1252-1139T>C Single submitter
- c.1252-17A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.1252-20T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.1252-4C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.163+18T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.163+19A>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.164-15C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.204+10T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.204+14C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.204+9T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.205-19_205-16dup Single submitter agammaglobulinemia 4, autosomal recessive
- c.205-4G>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.205-8A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+10C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+13G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+13G>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+15A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+8C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.361+9C>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.362-11T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.362-20T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.362-5T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.48-13T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.48-18T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.48-5T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.48-9T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.48-9T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.525+10_525+11insG Single submitter agammaglobulinemia 4, autosomal recessive
- c.525+13T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-13G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-22_526-19del Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-5G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-6T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-7C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.526-8T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+13C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+14G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+15C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+17T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+9T>C Single submitter
- c.608-10T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.608-13T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.608-15_608-14insCG Single submitter agammaglobulinemia 4, autosomal recessive
- c.608-16C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.608-22CA[3] Single submitter agammaglobulinemia 4, autosomal recessive
- c.676+9T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-12A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-15T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-16G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-5T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-6G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.746+8C>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-11T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-12T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-17C>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-18T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-5C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.747-8T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.775-18T>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.775-4A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.817+16T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.817+19A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.817+3dup Single submitter agammaglobulinemia 4, autosomal recessive
- c.818-12T>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.818-16A>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.902+15C>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.902+9C>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.903-10T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.903-11C>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.903-19C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.903-7C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+11C>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+12G>A Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+14A>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+16C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+19T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.934+8C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.935-11A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.935-9C>A Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala111= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala240= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala262= Single submitter
- p.Ala359= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala53= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala88= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala92= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Arg106= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Arg399= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Arg427= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asn185= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asn27= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asn318= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asn442= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asn91= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asp184= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asp186= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Asp66= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Gln160= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Glu173= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Gly316= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Gly340= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Gly410= Single submitter agammaglobulinemia 4, autosomal recessive
- p.His23= Single submitter agammaglobulinemia 4, autosomal recessive
- p.His286= Single submitter agammaglobulinemia 4, autosomal recessive
- p.His429= Single submitter agammaglobulinemia 4, autosomal recessive
- p.His78= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ile36= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Leu112= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Leu149= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Leu370= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Leu409= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Lys257= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Lys391= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Phe114= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Phe313= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro10= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro113= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro154= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro166= Single submitter
- p.Pro181= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro204= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro217= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro238= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro242= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro244= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro260= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro319= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro48= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Pro87= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser151= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser195= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser329= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser375= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser46= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser79= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ser81= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr105= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr150= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr152= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr210Ala Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr216= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr253= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr254= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr333= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr8= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Tyr347= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Tyr84= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Tyr96= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val180= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val291= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val85= Single submitter agammaglobulinemia 4, autosomal recessive
Uncertain significance 144
- p.Ala176Val Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala218Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala290Val Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala92Asp Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala92Thr Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg282Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg372Trp Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg399Gln Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Asn441Tyr Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Asn91Lys Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp366Glu Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp69Gly Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Gln17Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu60Lys Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu62Gln Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly249Arg Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly30Arg Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ile32Leu Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu15Phe Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro199Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro294Leu Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro309Leu Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro345Ser Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser125Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser12Cys Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser374Asn Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser439Asn Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser439Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr216Ala Multiple submitters agammaglobulinemia 4, autosomal recessive ⚠
- p.Val182Met Multiple submitters Inborn genetic diseases ⚠
- p.Val435Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val85Ala Multiple submitters Inborn genetic diseases ⚠
- c.113+4A>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.1252-3T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.607+5G>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.677-3C>T Single submitter agammaglobulinemia 4, autosomal recessive
- c.775-3T>C Single submitter agammaglobulinemia 4, autosomal recessive
- c.817+6A>G Single submitter agammaglobulinemia 4, autosomal recessive
- c.935-3C>T Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala155Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala240Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala299Val Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala53Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ala58Thr Single submitter agammaglobulinemia 4, autosomal recessive
- p.Ala88Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg123Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg227Gln Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg247Gln Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg280His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg372Gln Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Arg427Lys Single submitter ⚠
- p.Asn213His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asn27Lys Single submitter Inborn genetic diseases ⚠
- p.Asn34Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asn441Lys Single submitter Inborn genetic diseases ⚠
- p.Asn74His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp174Val Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp186Gly Single submitter Inborn genetic diseases ⚠
- p.Asp24Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp2Val Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp438Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp66Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp66Glu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp67Glu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Asp71Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Cys271Tyr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Cys343Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gln126Arg Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gln160Arg Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gln440Arg Single submitter Inborn genetic diseases ⚠
- p.Glu145Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu173Lys Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu272Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu279Gln Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu29Gln Single submitter Inborn genetic diseases ⚠
- p.Glu77Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Glu89Lys Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly117= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Gly170Asp Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly222Ala Single submitter Inborn genetic diseases ⚠
- p.Gly249Glu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly415Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Gly420Glu Single submitter Inborn genetic diseases ⚠
- p.His191Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.His23Arg Single submitter ⚠
- p.His377Arg Single submitter Inborn genetic diseases ⚠
- p.His431Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ile276Thr Single submitter Inborn genetic diseases ⚠
- p.Ile371Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ile426Phe Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu112Pro Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu171Phe Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu18Phe Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Leu434Phe Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Lys301= Single submitter agammaglobulinemia 4, autosomal recessive
- p.Lys380Glu Single submitter Inborn genetic diseases ⚠
- p.Met21Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Met83Ile Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Met83Thr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Phe132Cys Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Phe369Tyr Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Phe68Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro107Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro110Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro140Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro140Ser Single submitter Inborn genetic diseases ⚠
- p.Pro154Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro162Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro199Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro204His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro220Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro244Arg Single submitter Inborn genetic diseases ⚠
- p.Pro277Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro298Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro309His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro311Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro324Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro345Leu Single submitter Inborn genetic diseases ⚠
- p.Pro98Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Pro98Leu Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser125Asn Single submitter Inborn genetic diseases ⚠
- p.Ser219Cys Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser229Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser243Ala Single submitter Inborn genetic diseases ⚠
- p.Ser269Arg Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser70Arg Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser70Gly Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ser95Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Ter457Gln Single submitter agammaglobulinemia 4, autosomal recessive
- p.Thr216Met Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Thr253Met Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Thr254Ile Single submitter Inborn genetic diseases ⚠
- p.Thr258Ser Single submitter Inborn genetic diseases ⚠
- p.Thr333Ser Single submitter ⚠
- p.Thr443Ile Single submitter Inborn genetic diseases ⚠
- p.Trp64Ser Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Tyr451Asn Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Tyr451His Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Val101Ala Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Val206del Single submitter agammaglobulinemia 4, autosomal recessive
- p.Val206Met Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Val422Ile Single submitter Inborn genetic diseases ⚠
- p.Val85Met Single submitter agammaglobulinemia 4, autosomal recessive ⚠
- p.Val9Ile Single submitter agammaglobulinemia 4, autosomal recessive ⚠