Sugi Variant

Sugi Variant/G6PC3

G6PC3 — 695 ClinVar variants

All ClinVar germline G6PC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

36 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 20 Conflicting · 6 Benign · 6 Benign/Likely benign · 248 Likely benign · 366 Uncertain significance

Full G6PC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 337

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 269

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 269

Predictors split 54

The independent predictors disagree with each other — read with care.

All G6PC3 variants

Pathogenic 36

  • c.199_218+1del Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala257fs Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg161Ter Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg189Ter Multiple submitters G6PC3-related disorders
  • p.Arg253His Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gln277Ter Multiple submitters G6PC3-related disorders
  • p.Gln305fs Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly260Arg Multiple submitters G6PC3-related disorders
  • p.Ile70fs Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Phe71fs Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro44Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr48Ter Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+1G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+2T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+1G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg253_Gly260del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gln99Ter Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly109Val Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile125_Met126insTer Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile125fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile55fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu155fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu212fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Lys72fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Met192fs Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Met1Ile Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser227_Ile228delinsPhe Single submitter
  • p.Ser229fs Single submitter
  • p.Trp21Ter Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Trp82Ter Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr89Ter Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Asn313fs No assertion criteria autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly262Arg No assertion criteria autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu185Pro No assertion criteria autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Met116Val No assertion criteria autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr47Ter No assertion criteria autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Pathogenic/Likely pathogenic 2

  • p.Arg161Gln Multiple submitters G6PC3-related disorders
  • p.Pro44Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Likely pathogenic 11

  • p.Gly109Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • c.325+2T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.326-2A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.326-3_343del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+1G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-1G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-2A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-1G>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Glu65Ala Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly113Arg Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr199Cys Single submitter G6PC3-related disorders ⚠

Conflicting classifications of pathogenicity 20

  • c.219-13T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-14T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala156= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala20Val Single submitter Inborn genetic diseases ⚠
  • p.Arg161Pro Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg189Gln Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg253Cys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asn17Thr Single submitter Inborn genetic diseases ⚠
  • p.Gln338Ter Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly113Glu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.His302Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile162Val Single submitter Inborn genetic diseases ⚠
  • p.Ile37Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile63Leu Single submitter Inborn genetic diseases ⚠
  • p.Leu67= Single submitter Inborn genetic diseases
  • p.Met192Val Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Phe309Cys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser229= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr4Met Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Val243Met Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠

Benign 6

  • c.416+5A>G Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+56T>A Multiple submitters
  • c.-129C>T Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.*151G>C Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-211dup Single submitter
  • c.-152T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Benign/Likely benign 6

  • c.*2T>C Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gln272Arg Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile63= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser345= Multiple submitters Inborn genetic diseases
  • p.Thr127= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr216Ile Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Likely benign 248

  • c.219-50C>G Multiple submitters
  • c.326-20G>A Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-10A>T Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-11C>T Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-194C>T Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala134= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala14= Multiple submitters Inborn genetic diseases
  • p.Ala20= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala249= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala264= Multiple submitters Inborn genetic diseases
  • p.Ala331= Multiple submitters Inborn genetic diseases
  • p.Ala46= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala49= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala7= Multiple submitters Inborn genetic diseases
  • p.Ala95= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg136= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg140= Multiple submitters Inborn genetic diseases
  • p.Arg51= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Arg79= Multiple submitters Inborn genetic diseases
  • p.Asp244= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Asp298= Multiple submitters Inborn genetic diseases
  • p.Cys269= Multiple submitters Inborn genetic diseases
  • p.Gln18= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gln272= Multiple submitters Inborn genetic diseases
  • p.Gln338= Multiple submitters Inborn genetic diseases
  • p.Glu339= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Glu65= Multiple submitters Inborn genetic diseases
  • p.Gly109= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly179= Multiple submitters Inborn genetic diseases
  • p.Gly279= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly301= Multiple submitters Inborn genetic diseases
  • p.Gly33= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly8= Multiple submitters Inborn genetic diseases
  • p.Gly88= Multiple submitters Inborn genetic diseases
  • p.His170= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.His242= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.His302= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.His344= Multiple submitters Inborn genetic diseases
  • p.Ile55= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile9= Multiple submitters Inborn genetic diseases
  • p.Leu15= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu176= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu182= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu185= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu19= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu201= Multiple submitters Inborn genetic diseases
  • p.Leu212= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu224= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu230= Multiple submitters Inborn genetic diseases
  • p.Leu27= Multiple submitters Inborn genetic diseases
  • p.Leu287= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu308= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu315= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu319= Multiple submitters Inborn genetic diseases
  • p.Leu327= Multiple submitters Inborn genetic diseases
  • p.Leu38= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu40= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu58= Multiple submitters Inborn genetic diseases
  • p.Leu69= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Lys233= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Lys283= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Phe314= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro303= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro341= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro35= Multiple submitters Inborn genetic diseases
  • p.Pro44= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser147= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser160= Multiple submitters Inborn genetic diseases
  • p.Ser197= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser255= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser3= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser87= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr152= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr219= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr318= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr4= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr64= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr214= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr317= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr47= Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Val10= Multiple submitters Inborn genetic diseases
  • p.Val172= Multiple submitters Inborn genetic diseases
  • p.Val57= Multiple submitters Inborn genetic diseases
  • c.218+14G>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+14G>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+16C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+17del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+18T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+20C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+56A>G Single submitter
  • c.218+8A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.218+9G>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-12G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-12G>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-18dup Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-18G>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.219-4C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+11T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+14_325+17del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+14A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+18T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+20del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.325+8G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.326-19C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.326-7C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.326-7C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+11G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+13C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+13C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+14A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+17G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+19C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+19C>T Single submitter
  • c.416+8C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-11C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-11C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-13C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-15C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-16C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-18T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-19T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-9T>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+14G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+14G>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+17A>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+18C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+19G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+20G>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.535+8A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-11_536-7del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-12C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-14C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-4C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-4dup Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-5C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-5C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-7C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+10G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+11C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+18G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+9C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-14C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-15T>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-16C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-6C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-8C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.678-8C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala12= Single submitter Inborn genetic diseases
  • p.Ala121= Single submitter Inborn genetic diseases
  • p.Ala128= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala180= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala203= Single submitter Inborn genetic diseases
  • p.Ala205= Single submitter Inborn genetic diseases
  • p.Ala231= Single submitter Inborn genetic diseases
  • p.Ala271= Single submitter Inborn genetic diseases
  • p.Ala276= Single submitter Inborn genetic diseases
  • p.Ala285= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala290= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala326= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala337= Single submitter Inborn genetic diseases
  • p.Ala56= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala93= Single submitter Inborn genetic diseases
  • p.Arg143= Single submitter Inborn genetic diseases
  • p.Arg189= Single submitter Inborn genetic diseases
  • p.Arg275= Single submitter Inborn genetic diseases
  • p.Asn24= Single submitter Inborn genetic diseases
  • p.Asp223= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Asp34= Single submitter Inborn genetic diseases
  • p.Asp78= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Cys115= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Cys151= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Cys235= Single submitter Inborn genetic diseases
  • p.Cys286= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gln277His Single submitter Inborn genetic diseases
  • p.Gln282= Single submitter Inborn genetic diseases
  • p.Gln96= Single submitter Inborn genetic diseases
  • p.Glu195= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Glu23= Single submitter Inborn genetic diseases
  • p.Gly175= Single submitter Inborn genetic diseases
  • p.Gly200= Single submitter Inborn genetic diseases
  • p.Gly256= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly54= Single submitter Inborn genetic diseases
  • p.Gly6= Single submitter Inborn genetic diseases
  • p.His266= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile162= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile164= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile228= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile29= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ile29Val Single submitter Inborn genetic diseases
  • p.Ile311= Single submitter Inborn genetic diseases
  • p.Ile343= Single submitter Inborn genetic diseases
  • p.Leu159= Single submitter Inborn genetic diseases
  • p.Leu165= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu196= Single submitter Inborn genetic diseases
  • p.Leu206= Single submitter Inborn genetic diseases
  • p.Leu217= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu220= Single submitter Inborn genetic diseases
  • p.Leu251= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu259= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu278= Single submitter Inborn genetic diseases
  • p.Leu287Phe Single submitter Inborn genetic diseases
  • p.Leu289= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu293= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu297= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu323= Single submitter Inborn genetic diseases
  • p.Leu325= Single submitter Inborn genetic diseases
  • p.Leu5= Single submitter Inborn genetic diseases
  • p.Leu62= Single submitter Inborn genetic diseases
  • p.Lys316= Single submitter Inborn genetic diseases
  • p.Lys36= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Lys72= Single submitter Inborn genetic diseases
  • p.Met145Ile Single submitter Inborn genetic diseases
  • p.Phe168= Single submitter Inborn genetic diseases
  • p.Phe232= Single submitter Inborn genetic diseases
  • p.Phe309= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Phe43= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Phe71= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro111= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro124= Single submitter Inborn genetic diseases
  • p.Pro191= Single submitter Inborn genetic diseases
  • p.Pro238= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Pro296= Single submitter Inborn genetic diseases
  • p.Pro304= Single submitter Inborn genetic diseases
  • p.Pro321= Single submitter Inborn genetic diseases
  • p.Pro342= Single submitter Inborn genetic diseases
  • p.Pro80= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser112= Single submitter Inborn genetic diseases
  • p.Ser130= Single submitter Inborn genetic diseases
  • p.Ser131= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser227= Single submitter Inborn genetic diseases
  • p.Ser250= Single submitter Inborn genetic diseases
  • p.Ser252= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ser307= Single submitter Inborn genetic diseases
  • p.Ser346= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr135= Single submitter Inborn genetic diseases
  • p.Thr178= Single submitter Inborn genetic diseases
  • p.Thr202= Single submitter Inborn genetic diseases
  • p.Thr216= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Thr30= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr150= Single submitter Inborn genetic diseases
  • p.Tyr310= Single submitter Inborn genetic diseases
  • p.Tyr48= Single submitter Inborn genetic diseases
  • p.Tyr90= Single submitter Inborn genetic diseases
  • p.Val133= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Val243= Single submitter Inborn genetic diseases
  • p.Val328= Single submitter Inborn genetic diseases
  • p.Val332= Single submitter Inborn genetic diseases
  • c.-4C>T No assertion criteria G6PC3-related disorder

Uncertain significance 366

Showing the top 300 by review status; the full set is in the sitemap.

  • c.677+5G>A Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.*67G>A Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala120Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala121Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala156Val Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala180Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala20Gly Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala264Thr Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala285Asp Multiple submitters Inborn genetic diseases
  • p.Ala49Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala49Val Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala7Thr Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg136Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg136Trp Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg138Cys Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg138His Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg140Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg140His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg143Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg194Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg246Gln Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg274Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg274His Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg275Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg275Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn313Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp223Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gln96Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu13Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Gly183Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Gly209Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly209Asp Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Gly6Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly88Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.His344Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile11Val Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ile162Thr Multiple submitters Inborn genetic diseases
  • p.Ile177Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile284Val Multiple submitters G6PC3-related disorder ⚠
  • p.Ile63Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu196Pro Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Leu19Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu206Phe Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Leu300Pro Multiple submitters Inborn genetic diseases
  • p.Leu308Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Met126Thr Multiple submitters Inborn genetic diseases
  • p.Met126Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met186Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Met192Thr Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Met207Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met334Ile Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Phe100Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Phe153Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe314Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro146Leu Multiple submitters Inborn genetic diseases
  • p.Pro188Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro247Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro296Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro303Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro303Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro304Ser Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro341Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser160Leu Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser225Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser225Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser267Cys Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser307Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser336Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser61Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Thr127Met Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Thr187Ile Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Trp215Arg Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Trp226Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Trp59Arg Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Tyr270Cys Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Tyr42Asn Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Tyr48Asp Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Val144Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Val157Ala Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Val243Ala Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Val288Ala Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Val328Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val57Met Multiple submitters autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • c.218+486A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+3A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.416+6C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-10_417-9del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-8_417-6del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.417-9T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.536-3T>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+4A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.677+7C>T Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-149G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-155T>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-162G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-164G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-178C>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-231A>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.-48G>A Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.*234C>G Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • c.*97G>C Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Ala128Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala12Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala137Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala180Val Single submitter Inborn genetic diseases ⚠
  • p.Ala205Val Single submitter Inborn genetic diseases ⚠
  • p.Ala257Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala258Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala258Val Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala271Val Single submitter Inborn genetic diseases ⚠
  • p.Ala276Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala285Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala290Val Single submitter Inborn genetic diseases ⚠
  • p.Ala326Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala326Val Single submitter Inborn genetic diseases ⚠
  • p.Ala340Val Single submitter Inborn genetic diseases ⚠
  • p.Ala45Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala46Val Single submitter Inborn genetic diseases ⚠
  • p.Ala49Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala56Thr Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ala7Val Single submitter Inborn genetic diseases ⚠
  • p.Ala93Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala93Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala95Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala95Val Single submitter Inborn genetic diseases ⚠
  • p.Arg138Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg140Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg143Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg189Gly Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg189Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg189Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg194Gln Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg237Gln Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg237Pro Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg237Trp Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg246Trp Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Arg274Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg275Gly Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asn17Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn280Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn313Tyr Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asn68Ser Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asp223Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp244Glu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asp244Gly Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asp298Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp34Asn Single submitter Inborn genetic diseases
  • p.Asp34Gly Single submitter ⚠
  • p.Asp34Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp34Val Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Asp78Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys104Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys235Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys269del Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Cys269Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys322Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys322Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln132His Single submitter Inborn genetic diseases ⚠
  • p.Gln16Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln18Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln18Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln18Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln96His Single submitter Inborn genetic diseases ⚠
  • p.Gln96Leu Single submitter Inborn genetic diseases ⚠
  • p.Glu105Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu13Asp Single submitter Inborn genetic diseases
  • p.Glu13Lys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Glu195Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu195Lys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Glu236Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu65Lys Single submitter ⚠
  • p.Glu86Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly107Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly109Arg Single submitter ⚠
  • p.Gly119Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly175Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly179Val Single submitter Inborn genetic diseases ⚠
  • p.Gly200Val Single submitter Inborn genetic diseases ⚠
  • p.Gly209Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly221Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly262Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly279Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly281Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly292Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly295Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly295Cys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Gly295Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly33Asp Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Gly54Ser Single submitter ⚠
  • p.Gly6Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly88Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly88Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly8Arg Single submitter Inborn genetic diseases ⚠
  • p.His167Arg Single submitter Inborn genetic diseases ⚠
  • p.His170Gln Single submitter Inborn genetic diseases ⚠
  • p.His266Tyr Single submitter Inborn genetic diseases ⚠
  • p.His302Asp Single submitter Inborn genetic diseases ⚠
  • p.His333Asn Single submitter Inborn genetic diseases ⚠
  • p.His333Asp Single submitter Inborn genetic diseases ⚠
  • p.His344Gln Single submitter Inborn genetic diseases ⚠
  • p.His85Arg Single submitter Inborn genetic diseases ⚠
  • p.His85Tyr Single submitter Inborn genetic diseases ⚠
  • p.His98Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile11Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile125del Single submitter
  • p.Ile125Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile125Lys Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ile125Met Single submitter Inborn genetic diseases ⚠
  • p.Ile164Val Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ile241Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile284Arg Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ile284Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile284Met Single submitter Inborn genetic diseases ⚠
  • p.Ile29Thr Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ile55Met Single submitter Inborn genetic diseases ⚠
  • p.Ile60Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile60Val Single submitter Inborn genetic diseases ⚠
  • p.Ile70Leu Single submitter Inborn genetic diseases ⚠
  • p.Leu129Arg Single submitter Inborn genetic diseases
  • p.Leu129Pro Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu129Val Single submitter Inborn genetic diseases ⚠
  • p.Leu148Val Single submitter Inborn genetic diseases ⚠
  • p.Leu155Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu159Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu206Val Single submitter Inborn genetic diseases ⚠
  • p.Leu220Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu220Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu222= Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Leu224Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu251Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu27Pro Single submitter Inborn genetic diseases
  • p.Leu294Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu297Val Single submitter Inborn genetic diseases ⚠
  • p.Leu327Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu327Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu38Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu40Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu58Val Single submitter Inborn genetic diseases ⚠
  • p.Leu5Met Single submitter Inborn genetic diseases ⚠
  • p.Leu62Phe Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Leu75Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu75Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu75Pro Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Lys316Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys316Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys36Gln Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Met116Arg Single submitter Inborn genetic diseases ⚠
  • p.Met126Ile Single submitter Inborn genetic diseases ⚠
  • p.Met145Leu Single submitter Inborn genetic diseases ⚠
  • p.Met207Ile Single submitter Inborn genetic diseases ⚠
  • p.Met207Lys Single submitter Inborn genetic diseases ⚠
  • p.Met207Val Single submitter Inborn genetic diseases ⚠
  • p.Met334Lys Single submitter Inborn genetic diseases ⚠
  • p.Met334Thr Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Met334Val Single submitter Inborn genetic diseases ⚠
  • p.Phe153Cys Single submitter Inborn genetic diseases ⚠
  • p.Phe168Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe218Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe312Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe314Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe335Cys Single submitter Inborn genetic diseases ⚠
  • p.Phe39Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe41Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe43Leu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Phe71_Lys72insPhe Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
  • p.Phe71Leu Single submitter Inborn genetic diseases
  • p.Phe71Val Single submitter Inborn genetic diseases ⚠
  • p.Phe76Leu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro108Arg Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro108Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro108Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro169Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro188Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro191Leu Single submitter Inborn genetic diseases
  • p.Pro238Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro247Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro268Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro268Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro296Ser Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro303His Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro303Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro304Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro304Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro304fs Single submitter
  • p.Pro304His Single submitter Inborn genetic diseases ⚠
  • p.Pro304Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro321Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro342Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro35Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro35Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro80Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro94Leu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Pro94Ser Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser102Ala Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser102Phe Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠
  • p.Ser103Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser103Phe Single submitter ⚠
  • p.Ser110Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser110Asn Single submitter Inborn genetic diseases
  • p.Ser131Leu Single submitter autosomal recessive severe congenital neutropenia due to G6PC3 deficiency ⚠