NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)Pathogenic
Methylmalonic aciduria, cblA type|not provided|Methylmalonic acidemia|MMAA-related disorder|See cases
β
β
ββ2026β Residue 145
NM_172250.3(MMAA):c.658G>A (p.Val220Met)Pathogenic
Methylmalonic aciduria, cblA type|Methylmalonic acidemia
β
β
ββ2026β Residue 220
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)Pathogenic
not provided|Methylmalonic aciduria, cblA type|Methylmalonic acidemia|MMAA-related disorder
β
β
ββ2026β Residue 198
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2026β Residue 89
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)Pathogenic
Methylmalonic aciduria, cblA type|not provided
β
β
ββ2026β Residue 359
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)Pathogenic
Methylmalonic aciduria, cblA type|Methylmalonic acidemia
β
β
ββ2025β Residue 145
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025β Residue 122
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)Pathogenic
Methylmalonic aciduria, cblA type|not provided|Methylmalonic acidemia
β
β
ββ2025β Residue 22
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025β Residue 399
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025β Residue 300
NM_172250.3(MMAA):c.963_969+4delPathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025
NM_172250.3(MMAA):c.820-2A>GLikely pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025
NM_172250.3(MMAA):c.388del (p.His130fs)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025β Residue 130
NM_172250.3(MMAA):c.820-1G>CPathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)Pathogenic
not provided|Methylmalonic aciduria, cblA type|Methylmalonic acidemia|MMAA-related disorder
β
β
ββ2025β Residue 129
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)Pathogenic
Methylmalonic aciduria, cblA type|Methylmalonic acidemia|not provided
β
β
ββ2025β Residue 196
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)Pathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025β Residue 54
NM_172250.3(MMAA):c.820-1G>APathogenic
Methylmalonic aciduria, cblA type
β
β
ββ2025
NM_172250.3(MMAA):c.733+1G>APathogenic
Methylmalonic aciduria, cblA type|not provided
β
β
ββ2025
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)Pathogenic
not provided|Methylmalonic aciduria, cblA type|Methylmalonic acidemia
β
β
ββ2025β Residue 330