NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)Pathogenic
G6PD MAHIDOL|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to
β
β
ββ2026β Residue 193
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to
β
β
ββ2026β Residue 136
NM_000402.4(G6PD):c.961G>A (p.Val321Met)Pathogenic
G6PD VIANGCHAN|G6PD JAMMU|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|G6PD deficient hemolytic anemia|Malaria, susceptibility to|G6PD-related disorder
β
β
ββ2026β Residue 321
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)Pathogenic
G6PD ORISSA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 74
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)Pathogenic
not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to
β
β
ββ2026β Residue 454
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)Pathogenic
G6PD MEDITERRANEAN|G6PD CAGLIARI|not provided|G6PD SASSARI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases|Hemolytic anemia, G6PD deficient (favism)|G6PD deficient hemolytic anemia|Malaria, susceptibility to|See cases|G6PD-related disorder|Granulomatous disease, chronic, X-linked
β
β
ββ2026β Residue 218
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 199
NM_000402.4(G6PD):c.934G>C (p.Asp312His)Pathogenic
G6PD SEATTLE-LIKE|G6PD MODENA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β
β
ββ2026β Residue 312
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)Pathogenic
G6PD AURES|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β
β
ββ2026β Residue 78
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)Pathogenic
G6PD KAIPING|G6PD PETRICH-LIKE|G6PD SAPPORO-LIKE|G6PD DHON|G6PD ANANT|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases|Malaria, susceptibility to
β
β
ββ2026β Residue 493
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)Pathogenic
G6PD MALAGA|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
β
β
ββ2026β Residue 211
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)Pathogenic
G6PD KALYAN|G6PD KERALA-KALYAN|G6PD KERALA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|not provided|Malaria, susceptibility to|Congenital nonspherocytic hemolytic anemia|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 347
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)Pathogenic
G6PD AGRIGENTO|G6PD TAIWAN-HAKKA|G6PD CANTON|G6PD GIFU|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β
β
ββ2026β Residue 489
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)Pathogenic
G6PD CHATHAM|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Inborn genetic diseases|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β
β
ββ2026β Residue 365
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 416
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)Pathogenic
G6PD TAIWAN-HAKKA 2|not specified|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Malaria, susceptibility to|Malaria, susceptibility to
β
β
ββ2026β Residue 195
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 166
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)Pathogenic
G6PD deficiency|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 323
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)Pathogenic
not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β
β
ββ2026β Residue 454
NM_000402.4(G6PD):c.683G>A (p.Arg228His)Pathogenic
G6PD NILGIRI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
β
β
ββ2026β Residue 228