GFI1 — 780 ClinVar variants
All ClinVar germline GFI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 444 flagged for review →
1 Pathogenic · 17 Conflicting · 8 Benign · 27 Benign/Likely benign · 260 Likely benign · 467 Uncertain significance
Full GFI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 444
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GFI1 p.Ala187Ser
Conflicting
Single submitter
nonimmune chronic idiopathic neutropenia of adults
-
GFI1 p.Ala191Val
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg140Gln
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg37Gly
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg67Lys
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly180Arg
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ile258Val
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Lys403Arg
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Met105Val
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser78Thr
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr246Ala
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
Predictors lean, ClinVar uncertain 379
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 379
-
GFI1 p.Ala128Glu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala128Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala144Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala158Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala165Asp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala174Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala179Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala181Glu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala181Thr
Uncertain significance
Multiple submitters
nonimmune chronic idiopathic neutropenia of adults
-
GFI1 p.Ala191Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala193Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala206Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala231Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala285Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala34Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala376Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala44Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala64Asp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala70Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala97Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg133Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg147His
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg147Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg225Cys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg28Cys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg28Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg310Gln
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg310Trp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg338Trp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Arg412Pro Uncertain significance Multiple submitters
-
GFI1 p.Arg54His
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg82Trp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Asn43Ile
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Asp131Asn
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Asp399Asn Uncertain significance Multiple submitters
-
GFI1 p.Gln137Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gln17Glu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Glu160Lys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Glu212Asp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Glu271Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Glu287Asp Uncertain significance Multiple submitters
-
GFI1 p.Glu63Lys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Glu81Lys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly126Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly143Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly162Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly169Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly176Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly178Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly180Glu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly190Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly228Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly228Trp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly253Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly290Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.His16Asp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.His16Tyr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.His227Pro
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu153Ile
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu221Gln
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu27Phe
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu421Phe
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu61Val
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Lys10Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Lys259Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Lys315Glu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Met105Ile Uncertain significance Multiple submitters
-
GFI1 p.Met105Lys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Met105Thr Uncertain significance Multiple submitters
- GFI1 p.Met288Ile Uncertain significance Multiple submitters
-
GFI1 p.Pro161Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro164Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro170Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro21Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro267Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro339Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro35Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro57Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro57Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro92Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Pro93Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser101Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser125Thr
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser307Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser311Asn
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser78Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser83Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ser94Leu Uncertain significance Multiple submitters
-
GFI1 p.Thr192Ile
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr215Met
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Tyr25Cys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Val237Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Val239Met
Uncertain significance
Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
-
GFI1 p.Val305Ala
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Val79Ile
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ala112Thr Uncertain significance Single submitter
- GFI1 p.Ala12Thr Uncertain significance Single submitter
- GFI1 p.Ala12Val Uncertain significance Single submitter
- GFI1 p.Ala144Val Uncertain significance Single submitter
- GFI1 p.Ala149Thr Uncertain significance Single submitter
- GFI1 p.Ala158Thr Uncertain significance Single submitter
- GFI1 p.Ala158Val Uncertain significance Single submitter
- GFI1 p.Ala165Pro Uncertain significance Single submitter
- GFI1 p.Ala165Ser Uncertain significance Single submitter
- GFI1 p.Ala165Thr Uncertain significance Single submitter
- GFI1 p.Ala166Thr Uncertain significance Single submitter
- GFI1 p.Ala177Val Uncertain significance Single submitter
- GFI1 p.Ala187Val Uncertain significance Single submitter
- GFI1 p.Ala193Asp Uncertain significance Single submitter
- GFI1 p.Ala193Thr Uncertain significance Single submitter
-
GFI1 p.Ala206Glu
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ala206Ser Uncertain significance Single submitter
- GFI1 p.Ala206Thr Uncertain significance Single submitter
- GFI1 p.Ala216Thr Uncertain significance Single submitter
- GFI1 p.Ala217Gly Uncertain significance Single submitter
-
GFI1 p.Ala218Gly
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ala218Val Uncertain significance Single submitter
- GFI1 p.Ala231Gly Uncertain significance Single submitter
- GFI1 p.Ala231Val Uncertain significance Single submitter
- GFI1 p.Ala296Ser Uncertain significance Single submitter
- GFI1 p.Ala296Thr Uncertain significance Single submitter
- GFI1 p.Ala34Glu Uncertain significance Single submitter
-
GFI1 p.Ala34Val
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ala38Gly
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ala38Thr Uncertain significance Single submitter
- GFI1 p.Ala47Thr Uncertain significance Single submitter
- GFI1 p.Ala49Thr Uncertain significance Single submitter
- GFI1 p.Ala68Val Uncertain significance Single submitter
- GFI1 p.Ala70Val Uncertain significance Single submitter
- GFI1 p.Ala97Pro Uncertain significance Single submitter
- GFI1 p.Arg133Gln Uncertain significance Single submitter
-
GFI1 p.Arg133Pro
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Arg133Trp Uncertain significance Single submitter
- GFI1 p.Arg140Gly Uncertain significance Single submitter
- GFI1 p.Arg147Cys Uncertain significance Single submitter
-
GFI1 p.Arg172Gly
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Arg19Leu Uncertain significance Single submitter
- GFI1 p.Arg213Gly Uncertain significance Single submitter
- GFI1 p.Arg225His Uncertain significance Single submitter
- GFI1 p.Arg276Thr Uncertain significance Single submitter
- GFI1 p.Arg338Pro Uncertain significance Single submitter
- GFI1 p.Arg388Gly Uncertain significance Single submitter
- GFI1 p.Arg388His Uncertain significance Single submitter
- GFI1 p.Arg388Ser Uncertain significance Single submitter
-
GFI1 p.Arg413Gly
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg415Gln
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg52Gln
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Arg52Trp
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Arg54Cys Uncertain significance Single submitter
- GFI1 p.Arg54Ser Uncertain significance Single submitter
Predictors split 54
The independent predictors disagree with each other — read with care.
-
GFI1 p.Arg415Trp
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Asn382Ser
Pathogenic
Multiple submitters
GFI1-related disorders
-
GFI1 p.Cys245Arg
Uncertain significance
Multiple submitters
nonimmune chronic idiopathic neutropenia of adults
-
GFI1 p.Cys245Gly
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Gly280Ser
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Leu135Pro
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Lys238Asn
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Phe86Leu
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser261Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser56Cys
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Ser56Phe
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Trp90Arg
Uncertain significance
Multiple submitters
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Arg412Gln Uncertain significance Single submitter
- GFI1 p.Asn382Lys Uncertain significance Single submitter
-
GFI1 p.Asp313Gly
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Cys142Arg Uncertain significance Single submitter
- GFI1 p.Cys155Arg Uncertain significance Single submitter
- GFI1 p.Gln301Glu Uncertain significance Single submitter
- GFI1 p.Gln343Arg Uncertain significance Single submitter
-
GFI1 p.Gln343His
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Glu287Lys Uncertain significance Single submitter
- GFI1 p.Gly397Arg Uncertain significance Single submitter
- GFI1 p.Gly420Glu Uncertain significance Single submitter
- GFI1 p.Leu210Gln Uncertain significance Single submitter
- GFI1 p.Leu411Ile Uncertain significance Single submitter
- GFI1 p.Lys259Thr Uncertain significance Single submitter
- GFI1 p.Lys315Asn Uncertain significance Single submitter
- GFI1 p.Phe115Leu Uncertain significance Single submitter
- GFI1 p.Phe119Leu Uncertain significance Single submitter
-
GFI1 p.Phe203Leu
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Phe360Leu
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Phe393Cys Uncertain significance Single submitter
- GFI1 p.Phe89Leu Uncertain significance Single submitter
- GFI1 p.Ser138Arg Uncertain significance Single submitter
- GFI1 p.Ser277Cys Uncertain significance Single submitter
-
GFI1 p.Ser279Arg
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Ser307Leu Uncertain significance Single submitter
- GFI1 p.Ser380Thr Uncertain significance Single submitter
- GFI1 p.Ser387Arg Uncertain significance Single submitter
- GFI1 p.Ser4Leu Uncertain significance Single submitter
- GFI1 p.Ser4Thr Uncertain significance Single submitter
- GFI1 p.Ser71Cys Uncertain significance Single submitter
-
GFI1 p.Ser71Phe
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Thr246Ile Uncertain significance Single submitter
-
GFI1 p.Thr266Ala
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr266Met
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr385Ala
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr385Ile
Uncertain significance
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
-
GFI1 p.Thr417Met
Conflicting
Single submitter
neutropenia, severe congenital, 2, autosomal dominant
- GFI1 p.Trp124Arg Uncertain significance Single submitter
- GFI1 p.Tyr255His Uncertain significance Single submitter
- GFI1 p.Val272Leu Uncertain significance Single submitter
- GFI1 p.Val274Met Uncertain significance Single submitter
- GFI1 p.Val7Phe Uncertain significance Single submitter
All GFI1 variants
Pathogenic 1
- p.Asn382Ser Multiple submitters GFI1-related disorders ⚠
Conflicting classifications of pathogenicity 17
- c.299-12G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[25] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[26] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Ala187Ser Single submitter nonimmune chronic idiopathic neutropenia of adults ⚠
- p.Ala191Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg140Gln Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg37Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg67_Asp73dup Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Arg67Lys Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asp313Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly180Arg Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ile258Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Lys403Arg Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Met105Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser78Thr Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Thr246Ala Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Thr417Met Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
Benign 8
- c.924+54T>G Multiple submitters
- c.-99-97G>C Multiple submitters
- c.*229T>C Multiple submitters
- p.Ala216= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Cys155= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.299-191T>C Single submitter
- c.924+10G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-5_925-4insCTCTCTCTCC Single submitter neutropenia, severe congenital, 2, autosomal dominant
Benign/Likely benign 27
- c.115+10_115+29del Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.786+11C>A Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[12] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[13] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[14] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[15] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[16] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[17] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[19] Multiple submitters nonimmune chronic idiopathic neutropenia of adults
- c.925-40CT[20] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[21] Multiple submitters nonimmune chronic idiopathic neutropenia of adults
- c.925-40CT[22] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[23] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[24] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[27] Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.-14A>C Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg413= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg415= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Glu240Gln Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gly196= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Phe264= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Phe349= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Phe396= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro161= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro21= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser36Asn Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser56= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
Likely benign 260
- c.1091-18C>A Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.116-14C>T Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.924+14G>A Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.925-7_925-6insTCTCTCTCTA Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.-7G>A Multiple submitters
- p.Ala112= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala158= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala166= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala174= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala177= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala304= Multiple submitters
- p.Ala47= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala70= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg172= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg19= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg225= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Arg28His Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Asp202= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Asp88= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Cys142= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Cys314= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Cys373= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Cys398= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gln343= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Glu111= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gly148= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gly176= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gly198= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Gly201= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.His13= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.His268= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.His414= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.His419= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ile316= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu151= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu199= Multiple submitters
- p.Leu244= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu270= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu29= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu331= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu61= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Lys10= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Lys11= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro107= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro107Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro116= Multiple submitters
- p.Pro121= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro159= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro223= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro23= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro33= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Pro92= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser101= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser130= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser186= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser20= Multiple submitters
- p.Ser241= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser36= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser84= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser94= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Thr192= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Thr215= Multiple submitters
- p.Thr417= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Tyr222= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Tyr344= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Val274= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Val305= Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- c.1090+14G>C Single submitter
- c.1090+8A>T Single submitter
- c.1091-12C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.1091-15C>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.115+16G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.115+17G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.115+8G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.116-15G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.298+12C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.298+19C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.298+20C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.298+9C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-19T>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-8C>T Single submitter
- c.786+12G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.786+12G>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.786+9C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.787-17G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.787-5C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+11G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+13C>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+13C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+13C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+14G>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+15del Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+17C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+18C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+8del Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+9G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+9G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+9G>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[11] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[28] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[29] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[30] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[31] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[32] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[34] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-40CT[8] Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-7_925-6insTCTCTT Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.925-9_925-8insTCTCTCTA Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.-100+686C>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Ala12= Single submitter
- p.Ala128= Single submitter
- p.Ala149= Single submitter
- p.Ala165= Single submitter
- p.Ala179= Single submitter
- p.Ala187= Single submitter
- p.Ala189= Single submitter
- p.Ala193= Single submitter
- p.Ala208= Single submitter
- p.Ala217= Single submitter
- p.Ala218= Single submitter
- p.Ala231= Single submitter
- p.Ala235= Single submitter
- p.Ala285= Single submitter
- p.Ala296= Single submitter
- p.Ala376= Single submitter
- p.Ala49= Single submitter
- p.Ala68= Single submitter
- p.Ala97Val Single submitter
- p.Arg133= Single submitter
- p.Arg147= Single submitter
- p.Arg213= Single submitter
- p.Arg276= Single submitter
- p.Arg28= Single submitter
- p.Arg282= Single submitter
- p.Arg3= Single submitter
- p.Arg310= Single submitter
- p.Arg323= Single submitter
- p.Arg348= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Arg82= Single submitter
- p.Arg91= Single submitter
- p.Asn31= Single submitter
- p.Asp336= Single submitter
- p.Asp354= Single submitter
- p.Asp39= Single submitter
- p.Asp73= Single submitter
- p.Cys106= Single submitter
- p.Cys185= Single submitter
- p.Cys260= Single submitter
- p.Cys286= Single submitter
- p.Cys289= Single submitter
- p.Cys317= Single submitter
- p.Gln301= Single submitter
- p.Gln371= Single submitter
- p.Glu146= Single submitter
- p.Glu242= Single submitter
- p.Glu271= Single submitter
- p.Glu300= Single submitter
- p.Glu365= Single submitter
- p.Gly143Ala Single submitter
- p.Gly152= Single submitter
- p.Gly175= Single submitter
- p.Gly178= Single submitter
- p.Gly183= Single submitter
- p.Gly194= Single submitter
- p.Gly219= Single submitter
- p.Gly22= Single submitter
- p.Gly228= Single submitter
- p.Gly234= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Gly236= Single submitter
- p.Gly252= Single submitter
- p.Gly253= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Gly269= Single submitter
- p.Gly280= Single submitter
- p.Gly290= Single submitter
- p.Gly346= Single submitter
- p.Gly364= Single submitter
- p.Gly420= Single submitter
- p.His16= Single submitter
- p.His163= Single submitter
- p.His278= Single submitter
- p.His302= Single submitter
- p.His358= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.His368= Single submitter
- p.His386= Single submitter
- p.His390= Single submitter
- p.Ile258= Single submitter
- p.Ile361= Single submitter
- p.Leu109= Single submitter
- p.Leu117= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Leu132= Single submitter
- p.Leu153= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Leu167= Single submitter
- p.Leu197= Single submitter
- p.Leu210= Single submitter
- p.Leu220= Single submitter
- p.Leu221= Single submitter
- p.Leu229= Single submitter
- p.Leu243= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Leu248= Single submitter
- p.Leu249= Single submitter
- p.Leu250= Single submitter
- p.Leu27= Single submitter
- p.Leu299= Single submitter
- p.Leu327= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Leu383= Single submitter
- p.Leu6= Single submitter
- p.Lys103= Single submitter
- p.Lys120= Single submitter
- p.Lys171= Single submitter
- p.Lys171Glu Single submitter
- p.Lys315= Single submitter
- p.Lys322= Single submitter
- p.Lys357= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Lys366= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Phe154= Single submitter
- p.Phe284= Single submitter
- p.Phe293= Single submitter
- p.Phe393= Single submitter
- p.Phe405= Single submitter
- p.Phe86= Single submitter
- p.Phe89= Single submitter
- p.Pro141= Single submitter
- p.Pro157= Single submitter
- p.Pro164= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Pro170= Single submitter
- p.Pro182= Single submitter
- p.Pro195= Single submitter
- p.Pro267= Single submitter
- p.Pro283= Single submitter
- p.Pro339= Single submitter
- p.Pro341= Single submitter
- p.Pro51= Single submitter
- p.Pro57= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Pro65= Single submitter
- p.Ser104= Single submitter
- p.Ser108= Single submitter
- p.Ser123= Single submitter
- p.Ser14= Single submitter
- p.Ser184= Single submitter
- p.Ser184Gly Single submitter
- p.Ser205= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Ser26= Single submitter
- p.Ser277= Single submitter
- p.Ser325= Single submitter
- p.Ser4= Single submitter
- p.Ser69= Single submitter
- p.Ser71= Single submitter
- p.Ser83= Single submitter
- p.Ser96= Single submitter
- p.Thr246= Single submitter
- p.Thr281= Single submitter
- p.Thr41= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Thr62= Single submitter
- p.Tyr168= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Tyr200= Single submitter
- p.Tyr25= Single submitter
- p.Val237= Single submitter
- p.Val239= Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Val32= Single submitter
- p.Val409= Single submitter
Uncertain significance 467
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala128Glu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala128Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala144Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala158Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala165Asp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala174Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala179Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala181Glu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala181Thr Multiple submitters nonimmune chronic idiopathic neutropenia of adults ⚠
- p.Ala191Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala193Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala206Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala231Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala285Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala304Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ala34Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala376Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala44Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala64Asp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala70Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala97Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg133Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg147His Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg147Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg225Cys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg28Cys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg28Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg310Gln Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg310Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg338Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg412Pro Multiple submitters ⚠
- p.Arg415Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg54His Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg82Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asn43Ile Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asp131Asn Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asp399Asn Multiple submitters ⚠
- p.Cys245Arg Multiple submitters nonimmune chronic idiopathic neutropenia of adults ⚠
- p.Cys245Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gln137Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gln17Glu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu160Lys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu212Asp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu271Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu287Asp Multiple submitters ⚠
- p.Glu63Lys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu81Lys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly126Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly143Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly162Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly169Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly176Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly178Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly180Glu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly190Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly228Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly228Trp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly253Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly280Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly290Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly374Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.His16Asp Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His16Tyr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His227Pro Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu135Pro Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu153Ile Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu221Gln Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu250Pro Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Leu27Phe Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu421Phe Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Leu61Val Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Lys10Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Lys238Asn Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Lys259Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Lys315Glu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Met105Ile Multiple submitters ⚠
- p.Met105Lys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Met105Thr Multiple submitters ⚠
- p.Met288Ile Multiple submitters ⚠
- p.Phe86Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro161Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro164Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro170Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro21Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro267Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro339Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro35Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro57Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro57Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro92Ser Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Pro93Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser101Leu Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser125Thr Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser261Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser307Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser311Asn Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser56Cys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser56Phe Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser71_Ser74del Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Ser78Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser83Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ser94Leu Multiple submitters ⚠
- p.Thr192Ile Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Thr215Met Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Trp124Gly Multiple submitters neutropenia, severe congenital, 2, autosomal dominant
- p.Trp90Arg Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Tyr25Cys Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Val237Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Val239Met Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
- p.Val305Ala Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Val79Ile Multiple submitters neutropenia, severe congenital, 2, autosomal dominant ⚠
- c.115+3G>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.115+4C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.298+13T>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-16C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-17C>G Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-4A>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.299-5del Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.786+6G>C Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+6C>A Single submitter neutropenia, severe congenital, 2, autosomal dominant
- c.924+6C>T Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Ala112Thr Single submitter ⚠
- p.Ala12Thr Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala165Pro Single submitter ⚠
- p.Ala165Ser Single submitter ⚠
- p.Ala165Thr Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala193Asn Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Ala193Asp Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala206Glu Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala206Ser Single submitter ⚠
- p.Ala206Thr Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala217Gly Single submitter ⚠
- p.Ala218Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala231Gly Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala296Ser Single submitter ⚠
- p.Ala296Thr Single submitter ⚠
- p.Ala34Glu Single submitter ⚠
- p.Ala34Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala38Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala97Pro Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg133Pro Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg133Trp Single submitter ⚠
- p.Arg140Gly Single submitter ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg172Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg213Gly Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg276Thr Single submitter ⚠
- p.Arg338Pro Single submitter ⚠
- p.Arg348Lys Single submitter
- p.Arg388Gly Single submitter ⚠
- p.Arg388His Single submitter ⚠
- p.Arg388Ser Single submitter ⚠
- p.Arg3Pro Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Arg412Gln Single submitter ⚠
- p.Arg413Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg415Gln Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg52Gln Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg52Trp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg54Ser Single submitter ⚠
- p.Arg67_Asp73del Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Arg67Gly Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg91Ser Single submitter ⚠
- p.Asn31Lys Single submitter ⚠
- p.Asn382Lys Single submitter ⚠
- p.Asn43Lys Single submitter ⚠
- p.Asn43Thr Single submitter ⚠
- p.Asp110Gly Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Asp24Ala Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Asp66Ala Single submitter ⚠
- p.Asp66Glu Single submitter ⚠
- p.Asp66Gly Single submitter ⚠
- p.Asp73Glu Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Asp88Asn Single submitter ⚠
- p.Asp88Val Single submitter ⚠
- p.Cys106Arg Single submitter ⚠
- p.Cys142Arg Single submitter ⚠
- p.Cys155Arg Single submitter ⚠
- p.Cys155fs Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Cys314Tyr Single submitter ⚠
- p.Cys401Trp Single submitter ⚠
- p.Cys80Ser Single submitter ⚠
- p.Cys80Tyr Single submitter ⚠
- p.Gln17Arg Single submitter ⚠
- p.Gln301Glu Single submitter ⚠
- p.Gln308Leu Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gln343Arg Single submitter ⚠
- p.Gln343His Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gln379Ter Single submitter neutropenia, severe congenital, 2, autosomal dominant
- p.Gln418His Single submitter ⚠
- p.Gln418Leu Single submitter
- p.Gln60His Single submitter ⚠
- p.Glu212Lys Single submitter ⚠
- p.Glu224Gly Single submitter ⚠
- p.Glu240Gly Single submitter ⚠
- p.Glu242Gly Single submitter ⚠
- p.Glu271Gly Single submitter ⚠
- p.Glu287Gln Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Glu300Ala Single submitter ⚠
- p.Glu30Asp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu30Gln Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu50Gly Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Glu76Gln Single submitter ⚠
- p.Glu81Ala Single submitter ⚠
- p.Glu85Asp Single submitter ⚠
- p.Glu87Asp Single submitter ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly126Cys Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly129Cys Single submitter ⚠
- p.Gly129Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly148Asp Single submitter ⚠
- p.Gly150Asp Single submitter ⚠
- p.Gly152Asp Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly169Cys Single submitter ⚠
- p.Gly175Arg Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly176Asp Single submitter ⚠
- p.Gly176Cys Single submitter ⚠
- p.Gly176Ser Single submitter ⚠
- p.Gly178Ala Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly178Glu Single submitter ⚠
- p.Gly183Arg Single submitter ⚠
- p.Gly183Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly196Ser Single submitter ⚠
- p.Gly198Arg Single submitter ⚠
- p.Gly198Glu Single submitter ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly219Asp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly219Ser Single submitter ⚠
- p.Gly226Asp Single submitter ⚠
- p.Gly226Cys Single submitter ⚠
- p.Gly22Glu Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly234Asp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly251Ala Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly252Arg Single submitter ⚠
- p.Gly252Ser Single submitter ⚠
- p.Gly252Val Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly280Cys Single submitter ⚠
- p.Gly290Asp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.Gly290Cys Single submitter ⚠
- p.Gly294Arg Single submitter ⚠
- p.Gly374Cys Single submitter ⚠
- p.Gly397Arg Single submitter ⚠
- p.Gly404Ser Single submitter ⚠
- p.Gly420Glu Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly45Asp Single submitter ⚠
- p.Gly46Trp Single submitter ⚠
- p.Gly77Ser Single submitter ⚠
- p.His134Asp Single submitter ⚠
- p.His134Pro Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His13Arg Single submitter ⚠
- p.His13Tyr Single submitter ⚠
- p.His163Gln Single submitter ⚠
- p.His163Tyr Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His16Arg Single submitter ⚠
- p.His227Asp Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His230Arg Single submitter ⚠
- p.His230Gln Single submitter ⚠
- p.His278Gln Single submitter ⚠
- p.His278Leu Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.His330Leu Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.His362Asn Single submitter ⚠
- p.His368Tyr Single submitter
- p.His390Gln Single submitter neutropenia, severe congenital, 2, autosomal dominant ⚠
- p.His414Leu Single submitter ⚠
- p.His414Tyr Single submitter ⚠
- p.His419Arg Single submitter ⚠
- p.His419Gln Single submitter ⚠