NM_138387.4(G6PC3):c.758G>A (p.Arg253His)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2026β Residue 253
NM_138387.4(G6PC3):c.210del (p.Phe71fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2025β Residue 71
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2025β Residue 70
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2025β Residue 260
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)Pathogenic
not provided|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
β
ββ2025β Residue 257
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
β
ββ2025β Residue 161
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)Pathogenic
G6PC3-related disorder|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
β
ββ2025β Residue 161
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2025β Residue 189
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2025β Residue 44
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)Likely pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2023β Residue 109
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)Pathogenic
Inherited Immunodeficiency Diseases|Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
β
ββ2023β Residue 305
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2022β Residue 48
NM_138387.4(G6PC3):c.199_218+1delPathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|not provided
β
β
ββ2022
NM_138387.4(G6PC3):c.194A>C (p.Glu65Ala)Likely pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2025β Residue 65
NM_138387.4(G6PC3):c.295C>T (p.Gln99Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2025β Residue 99
NM_138387.4(G6PC3):c.326G>T (p.Gly109Val)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2025β Residue 109
NM_138387.4(G6PC3):c.218+1G>APathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2025
NM_138387.4(G6PC3):c.373_385del (p.Ile125fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2025β Residue 125
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2024β Residue 71
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)Pathogenic
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
β
βββ2024β Residue 82