IGLL1 — 256 ClinVar variants
All ClinVar germline IGLL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
6 Conflicting · 14 Benign · 16 Benign/Likely benign · 71 Likely benign · 149 Uncertain significance
Full IGLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IGLL1 p.Arg23Cys
Conflicting
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr206Ser
Conflicting
Single submitter
agammaglobulinemia 2, autosomal recessive
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IGLL1 p.Ala12Val
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ala174Ser
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg23His
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg2Lys
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg40Cys
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg48Gly
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg60Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg60Gly
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg60Trp
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg66Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg66Trp
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg85Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Asn129Asp
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Asp139Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Asp152Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gln7His
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gln88Pro
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.His91Tyr
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Leu179Arg
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Met197Thr
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro114Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro18Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro25His
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro80Ala
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser108Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser89Phe
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr164Met
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr202Ser
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Val106Ile
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ala112Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ala12Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ala54Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg187Lys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg2Thr
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg40His
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg40Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg66Gly
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg66Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg69Thr
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg74Cys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg74His
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Arg81Gly
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Asn129His
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Asn170Asp Uncertain significance Single submitter
-
IGLL1 p.Asn171Lys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Asn19Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Gln103Arg Uncertain significance Single submitter
- IGLL1 p.Gln88Leu Uncertain significance Single submitter
-
IGLL1 p.Glu184Lys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Gly30Cys Uncertain significance Single submitter
- IGLL1 p.Gly30Val Uncertain significance Single submitter
- IGLL1 p.Gly57Arg Uncertain significance Single submitter
-
IGLL1 p.Gly68Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly6Val
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly79Asp
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Gly86Glu Uncertain significance Single submitter
-
IGLL1 p.His91Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.His96Gln
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.His96Tyr
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Leu118Val
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Leu50Pro
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Lys172Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Met137Val
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Met162Val
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Met197Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Met197Ile
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro16Ser
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro18Ser
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro55Ser
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser115Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser180Asn
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Ser213Leu Uncertain significance Single submitter
-
IGLL1 p.Ser45Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser65Gly
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Ser76Phe Uncertain significance Single submitter
- IGLL1 p.Ser89Tyr Uncertain significance Single submitter
-
IGLL1 p.Thr113Asn
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr154Ser
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr5Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr78Pro
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr95Met
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Trp24Cys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Val203Met
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
Predictors split 37
The independent predictors disagree with each other — read with care.
-
IGLL1 p.Glu199Lys
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly153Val
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly159Ser
Benign/Likely benign
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.His198Gln
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Leu126Pro
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser123Cys
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr206Met
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Trp149Leu
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Val160Met
Uncertain significance
Multiple submitters
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ala131Val
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Gln168His Uncertain significance Single submitter
-
IGLL1 p.Gln195Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gln195His
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Glu125Gly
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Glu204Gly
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly101Arg
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Gly99Ser
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.His198Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Leu181Pro
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Lys130Asn
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Lys205Met Uncertain significance Single submitter
-
IGLL1 p.Phe119Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Phe119Tyr
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro120Gln
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro120Leu
Likely benign
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro121Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro142Leu
Conflicting
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Pro165Leu
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser123Pro
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser166Cys
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Ser176Asn
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
- IGLL1 p.Ser188Cys Uncertain significance Single submitter
-
IGLL1 p.Thr117Ile
Conflicting
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr146Met
Conflicting
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Thr182Met
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Val203Ala
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
-
IGLL1 p.Val207Met
Uncertain significance
Single submitter
agammaglobulinemia 2, autosomal recessive
All IGLL1 variants
Conflicting classifications of pathogenicity 6
- p.Arg23Cys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gln88fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro142Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr117Ile Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr146Met Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr206Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
Benign 14
- c.*113A>C Multiple submitters
- c.*83C>T Multiple submitters
- p.Asn92= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ser100= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ser169= Multiple submitters agammaglobulinemia 2, autosomal recessive
- c.207-242A>G Single submitter
- c.322+219G>A Single submitter
- c.323-104G>A Single submitter
- c.323-117C>T Single submitter
- c.323-165C>G Single submitter
- c.*13G>C Single submitter
- p.Ala208= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Met162Thr Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr164= Single submitter agammaglobulinemia 2, autosomal recessive
Benign/Likely benign 16
- c.207-9T>A Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala131= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala174Met Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala174Thr Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala174Val Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Arg189His Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Arg85Leu Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Asn171Ser Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Gln103= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Gly159Ser Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Met162Lys Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Pro155Leu Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Thr148Ile Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Thr95Lys Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Tyr141= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Val33Met Multiple submitters agammaglobulinemia 2, autosomal recessive
Likely benign 71
- p.Ala112= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala12= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Arg74= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Gln109= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.His198= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ile156= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Leu133= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Phe140= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Pro120= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Pro121= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ser115= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ser45= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Thr146= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Thr206= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Thr78= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Tyr173= Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Val196= Multiple submitters agammaglobulinemia 2, autosomal recessive
- c.207-20G>A Single submitter
- c.207-8C>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+15C>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+8G>A Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+9C>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.323-18C>G Single submitter agammaglobulinemia 2, autosomal recessive
- c.323-20C>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.323-6A>C Single submitter agammaglobulinemia 2, autosomal recessive
- c.323-7C>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.*12C>T Single submitter
- p.Ala174= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ala175= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ala32= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Arg187= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Arg60= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Arg66= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Arg85Trp Single submitter agammaglobulinemia 2, autosomal recessive
- p.Asn138Ser Single submitter
- p.Gln7= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln73= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Glu15= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Glu211= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gly159= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gly37= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gly75Ser Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gly86= Single submitter agammaglobulinemia 2, autosomal recessive
- p.His36= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu118= Single submitter
- p.Leu28= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu39= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu71= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu72= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Lys130= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Phe70= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Phe98= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro114= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro120Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro165= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro18= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro183= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro41= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro84= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ser213= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ser89= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr102= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr105= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr148= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr163= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr182= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr202= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr95= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Val106= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Val203= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Val34= Single submitter agammaglobulinemia 2, autosomal recessive
Uncertain significance 149
- p.Ala112Thr Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Ala12Val Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Ala174Ser Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg23His Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg2Lys Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg40Cys Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg48Gly Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg60Gln Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg60Gly Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg60Trp Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg66Gln Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg66Trp Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg85Gln Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Asn129Asp Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Asp139Asn Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Asp152Asn Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Gln7His Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Gln88Pro Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Glu199Lys Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly153Val Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly53Ter Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.His198Gln Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.His91Tyr Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Leu126Pro Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Leu179Arg Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Met197Thr Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro114Leu Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro18Leu Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro25His Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro80Ala Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser108Asn Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser123Cys Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser89Phe Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr164Met Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr202Ser Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr206Met Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Trp149Leu Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Tyr141fs Multiple submitters agammaglobulinemia 2, autosomal recessive
- p.Val106Ile Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- p.Val160Met Multiple submitters agammaglobulinemia 2, autosomal recessive ⚠
- c.206+3A>G Single submitter agammaglobulinemia 2, autosomal recessive
- c.207-3C>G Single submitter agammaglobulinemia 2, autosomal recessive
- c.207-4G>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+3_322+6del Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+4A>G Single submitter agammaglobulinemia 2, autosomal recessive
- c.322+4A>T Single submitter agammaglobulinemia 2, autosomal recessive
- c.323-3C>A Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ala112Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ala12Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ala131Val Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ala174fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ala54_Gly56dup Single submitter agammaglobulinemia 2, autosomal recessive
- p.Ala54Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ala54fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Arg187Lys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg2Thr Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg40His Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg40Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg66Gly Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg66Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg69Thr Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg74Cys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg74His Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg81Gly Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Arg85fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Asn129His Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Asn170Asp Single submitter ⚠
- p.Asn171del Single submitter agammaglobulinemia 2, autosomal recessive
- p.Asn171Lys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Asn19Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Asp139fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln103Arg Single submitter ⚠
- p.Gln127fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln168His Single submitter ⚠
- p.Gln185fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln185Ter Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln195Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gln195His Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gln22Ter Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gln88Leu Single submitter ⚠
- p.Glu124Ter Single submitter
- p.Glu125Gly Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Glu184Lys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Glu204Gly Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly101Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly30Val Single submitter ⚠
- p.Gly56fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Gly57Arg Single submitter ⚠
- p.Gly68Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly6Val Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly79Asp Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Gly86Glu Single submitter ⚠
- p.Gly99Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.His198Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.His91Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.His96fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.His96Gln Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.His96Tyr Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ile156fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu107= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu10fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Leu118Val Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Leu181Pro Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Leu50Pro Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Lys130Asn Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Lys172Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Lys205Met Single submitter ⚠
- p.Met137Val Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Met162Val Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Met197Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Met197Ile Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Phe119Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Phe119Tyr Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro120Gln Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro121Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro142= Single submitter agammaglobulinemia 2, autosomal recessive
- p.Pro165Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro16Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro18Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Pro55Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser115fs Single submitter
- p.Ser115Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser123Pro Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser166Cys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser176Asn Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser180Asn Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser188Cys Single submitter ⚠
- p.Ser213Leu Single submitter ⚠
- p.Ser45fs Single submitter
- p.Ser45Leu Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser59del Single submitter
- p.Ser65Gly Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Ser76Phe Single submitter ⚠
- p.Ser89Tyr Single submitter ⚠
- p.Thr113Asn Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr154Ser Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr182Met Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr5Arg Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr5fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Thr78Pro Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Thr95Met Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Trp24Cys Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Trp67Ter Single submitter agammaglobulinemia 2, autosomal recessive
- p.Trp77Arg Single submitter agammaglobulinemia 2, autosomal recessive
- p.Val203Ala Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Val203fs Single submitter agammaglobulinemia 2, autosomal recessive
- p.Val203Met Single submitter agammaglobulinemia 2, autosomal recessive ⚠
- p.Val207Met Single submitter agammaglobulinemia 2, autosomal recessive ⚠