NM_000340.2(SLC2A2):c.963+1G>APathogenic
Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β
β
ββ2026
NM_000340.2(SLC2A2):c.250G>T (p.Glu84Ter)Pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β
β
ββ2025β Residue 84
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β
β
ββ2025β Residue 153
NM_000340.2(SLC2A2):c.497-2A>GPathogenic
Fanconi-Bickel syndrome|not provided|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β
β
ββ2025
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)Pathogenic
Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome|SLC2A2-related disorder
β
β
ββ2025β Residue 61
NM_000340.2(SLC2A2):c.775+1G>APathogenic
not provided|Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β
β
ββ2024
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)Likely pathogenic
Fanconi-Bickel syndrome
β
β
ββ2024β Residue 197
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)Likely pathogenic
Fanconi-Bickel syndrome|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β
β
ββ2024β Residue 158
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)Pathogenic
Fanconi-Bickel syndrome
β
β
ββ2024β Residue 417
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β
β
ββ2024β Residue 301
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)Pathogenic
Fanconi-Bickel syndrome|Fanconi-Bickel syndrome;Type 2 diabetes mellitus|not provided|Congenital long QT syndrome|Glioma susceptibility 1
β
β
ββ2023β Residue 365
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)Pathogenic
Type 2 diabetes mellitus|Fanconi-Bickel syndrome
β
β
ββ2023β Residue 228
NM_000340.2(SLC2A2):c.333del (p.Ser112fs)Pathogenic
Fanconi-Bickel syndrome
β
βββ2025β Residue 112
NM_000340.2(SLC2A2):c.426_429dup (p.Phe144fs)Pathogenic
Fanconi-Bickel syndrome
β
βββ2025β Residue 144
NM_000340.2(SLC2A2):c.1330T>C (p.Trp444Arg)Likely pathogenic
Fanconi-Bickel syndrome
β
βββ2024β Residue 444
NM_000340.2(SLC2A2):c.1020T>G (p.Tyr340Ter)Pathogenic
Fanconi-Bickel syndrome
β
βββ2024β Residue 340
NM_000340.2(SLC2A2):c.613-1G>TLikely pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β
βββ2024
NM_000340.2(SLC2A2):c.670del (p.Leu224fs)Likely pathogenic
Fanconi-Bickel syndrome;Type 2 diabetes mellitus
β
βββ2024β Residue 224
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)Likely pathogenic
SLC2A2-related disorder|Type 2 diabetes mellitus;Fanconi-Bickel syndrome
β
βββ2024β Residue 39
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)Pathogenic
Fanconi-Bickel syndrome
β
βββ2024β Residue 223