NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)Pathogenic
Homocystinuria-megaloblastic anemia cblD type|See cases|Cobalamin C disease|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2026→ Residue 249
NM_015702.3(MMADHC):c.10-1G>APathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 182
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 140
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)Pathogenic
Homocystinuria-megaloblastic anemia cblD type|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 259
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 219
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 188
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 242
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)Pathogenic
Cobalamin C disease|not provided|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 216
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 250
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)Pathogenic
not provided|Methylmalonic aciduria and homocystinuria type cblD|Cobalamin C disease
★★☆☆2025→ Residue 158
NM_015702.3(MMADHC):c.154+1G>APathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 252
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|Isolated methylmalonic aciduria cblD type
★★☆☆2024→ Residue 19
NM_015702.3(MMADHC):c.372+1G>ALikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024
NM_015702.3(MMADHC):c.128_129del (p.His43fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024→ Residue 43
NM_015702.3(MMADHC):c.610-1G>ALikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024→ Residue 68
NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)Pathogenic
not provided|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2023→ Residue 228
NM_015702.3(MMADHC):c.10-1G>CLikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2023