JAGN1 — 161 ClinVar variants
All ClinVar germline JAGN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 11 Conflicting · 3 Benign · 10 Benign/Likely benign · 48 Likely benign · 85 Uncertain significance
Full JAGN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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.
-
JAGN1 p.Gln18Lys
Conflicting
Single submitter
Inborn genetic diseases
-
JAGN1 p.His44Tyr
Conflicting
Single submitter
severe congenital neutropenia
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
JAGN1 p.Arg131His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Arg22Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Ile105Val
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ile112Val
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Lys181Gln
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Met25Thr
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ser166Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Val43Ile
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ala69Thr
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Arg131Cys
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Gly141Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.His132Tyr
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.His59Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.His65Tyr
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ile116Val
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ile147Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Ile37Met
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- JAGN1 p.Leu163Val Uncertain significance Single submitter
-
JAGN1 p.Leu169Phe
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Leu49Val
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Leu60Pro
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Leu62Phe
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Leu90Phe
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Lys167Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Lys168Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Lys181Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Lys34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Met104Val
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Met107Val
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Met25Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Met55Leu
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Pro77Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Pro84Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Ser15Gly
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ser56Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Ser85Phe
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Thr12Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- JAGN1 p.Thr175Ser Uncertain significance Single submitter
-
JAGN1 p.Thr32Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Trp48Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Tyr42His
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Val145Ile
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Predictors split 37
The independent predictors disagree with each other — read with care.
-
JAGN1 p.Ala24Val
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Arg4Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Arg94Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Asp16Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Phe174Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Pro71Ser
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Pro71Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Thr12Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
JAGN1 p.Tyr130Cys
Uncertain significance
Multiple submitters
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Arg20Gln
Conflicting
Single submitter
severe congenital neutropenia
-
JAGN1 p.Arg4Leu
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- JAGN1 p.Asp13Asn Uncertain significance Single submitter
-
JAGN1 p.Asp16Gly
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Gln162Arg
Pathogenic
Single submitter
severe congenital neutropenia
-
JAGN1 p.Glu21Asp
Conflicting
Single submitter
severe congenital neutropenia
-
JAGN1 p.Gly14Asp
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Gly14Ser
Conflicting
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Gly58Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Gly6Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.Gly88Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.His159Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
JAGN1 p.His19Arg
Conflicting
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.His26Leu
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Leu163Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
-
JAGN1 p.Met148Thr
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Phe138Ser
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Phe140Cys
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Phe140Ser
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Phe17Leu
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- JAGN1 p.Pro93Leu Uncertain significance Single submitter
-
JAGN1 p.Ser106Asn
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ser30Asn
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Ser91Cys
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Trp173Arg
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Trp173Cys
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Tyr72Cys
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
-
JAGN1 p.Tyr99Asn
Uncertain significance
Single submitter
autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
All JAGN1 variants
Pathogenic 2
- p.Tyr99Ter Multiple submitters JAGN1-related disorder
- p.Gln162Arg Single submitter severe congenital neutropenia ⚠
Likely pathogenic 2
- p.Ser111fs Single submitter
- p.Glu121Ter No assertion criteria autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Conflicting classifications of pathogenicity 11
- c.89+4T>C Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Arg20Gln Single submitter severe congenital neutropenia ⚠
- p.Gln18Lys Single submitter Inborn genetic diseases ⚠
- p.Glu21Asp Single submitter severe congenital neutropenia ⚠
- p.Gly118= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Gly14Ser Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.His19Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.His44Tyr Single submitter severe congenital neutropenia ⚠
- p.Met1Ile Single submitter JAGN1-related disorder
- p.Ser166= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Thr12_Gly14del Single submitter severe congenital neutropenia
Benign 3
- c.90-171T>C Multiple submitters
- c.-70G>C Multiple submitters
- c.*202A>G Multiple submitters
Benign/Likely benign 10
- c.90-19C>T Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-20C>T Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.*9T>C Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala135Thr Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ile105= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ile112= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ile82Val Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Met1Val Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Pro7= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Thr32= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Likely benign 48
- p.Ala69= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.His19= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu109= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu63= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Lys34= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ser30= Multiple submitters Inborn genetic diseases
- p.Tyr42= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Val46= Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.89+15G>T Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.89+20G>T Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-13C>G Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-13C>T Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-16C>T Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-18C>G Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-18CT[4] Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-4A>G Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.90-9G>C Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.*9T>G Single submitter
- p.Ala10= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala113= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala144= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala160= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala53= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala9= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Arg4= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Asp13= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Gly88= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.His26= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ile41= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu33= Single submitter
- p.Leu40= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu62= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu83= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu90= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Lys180= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Lys39= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Phe110= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Pro77= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Pro93= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ser146= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ser56= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ter184= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Thr12= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Thr175= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Tyr165= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Tyr35= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Tyr76= Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Pro84= No assertion criteria JAGN1-related disorder
Uncertain significance 85
- p.Ala24Val Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Arg131His Multiple submitters Inborn genetic diseases ⚠
- p.Arg22Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg94Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp16Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile105Val Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ile112Val Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu87fs Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Lys181Gln Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Met25Thr Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Phe174Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro71Ser Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Pro71Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser166Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr12Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr130Cys Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Val43Ile Multiple submitters autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- c.89+1G>A Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- c.89+5G>A Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala24fs Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Ala69Thr Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ala9fs Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Arg131Cys Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Arg137Cys Single submitter Inborn genetic diseases
- p.Arg4Leu Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Asp13Asn Single submitter ⚠
- p.Asp16Gly Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Gln127Ter Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Gly141Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Gly14Asp Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Gly58Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Gly6Asp Single submitter Inborn genetic diseases ⚠
- p.Gly88Asp Single submitter Inborn genetic diseases ⚠
- p.His132Tyr Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.His159Tyr Single submitter Inborn genetic diseases ⚠
- p.His26Leu Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.His59Leu Single submitter Inborn genetic diseases ⚠
- p.His65Tyr Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ile116Val Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ile147Leu Single submitter Inborn genetic diseases ⚠
- p.Ile37Met Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu163Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ⚠
- p.Leu163Val Single submitter ⚠
- p.Leu169Phe Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu49Val Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu60Pro Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu62Phe Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Leu87Ser Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Leu90Phe Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Lys167Glu Single submitter Inborn genetic diseases ⚠
- p.Lys168Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Lys181Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Lys181del Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Lys34Asn Single submitter Inborn genetic diseases ⚠
- p.Met104Val Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Met107Val Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Met148Thr Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Met25Arg Single submitter Inborn genetic diseases ⚠
- p.Met55Leu Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Phe138Ser Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Phe140Cys Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Phe140fs Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- p.Phe140Ser Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Phe17Leu Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Pro77Leu Single submitter Inborn genetic diseases ⚠
- p.Pro84Ala Single submitter Inborn genetic diseases
- p.Pro84Arg Single submitter Inborn genetic diseases ⚠
- p.Pro93Leu Single submitter ⚠
- p.Ser106Asn Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ser15Gly Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ser30Asn Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ser56Asn Single submitter Inborn genetic diseases ⚠
- p.Ser85Phe Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Ser91Cys Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Thr12Ser Single submitter Inborn genetic diseases ⚠
- p.Thr175Ser Single submitter ⚠
- p.Thr32Ile Single submitter Inborn genetic diseases ⚠
- p.Trp173Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Trp173Cys Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Trp48Arg Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Tyr42His Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Tyr72Cys Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Tyr99Asn Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠
- p.Val145Ile Single submitter autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ⚠