NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)Pathogenic
not provided|Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive;Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2026→ Residue 525
NM_002454.3(MTRR):c.230del (p.Gln77fs)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2026→ Residue 77
NM_002454.3(MTRR):c.270del (p.Tyr91fs)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 91
NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)Pathogenic
Methylcobalamin deficiency type cblE
★★☆☆2025→ Residue 559
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)Pathogenic
Methylcobalamin deficiency type cblE|not provided|Inborn genetic diseases|Neural tube defects, folate-sensitive|MTRR-related disorder
★★☆☆2025→ Residue 560
NM_002454.3(MTRR):c.402-1G>TLikely pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025
NM_002454.3(MTRR):c.1769+1G>APathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive|Neural tube defects, folate-sensitive;Methylcobalamin deficiency type cblE
★★☆☆2025
NM_002454.3(MTRR):c.903+469T>CPathogenic
Methylcobalamin deficiency type cblE|not provided|Disorders of Intracellular Cobalamin Metabolism|Neural tube defects, folate-sensitive
★★☆☆2025
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 418
NM_002454.3(MTRR):c.1146+1G>ALikely pathogenic
Neural tube defects, folate-sensitive|Methylcobalamin deficiency type cblE
★★☆☆2025
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive;Methylcobalamin deficiency type cblE
★★☆☆2025→ Residue 386
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 473
NM_002454.3(MTRR):c.1554_1557+3delPathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive|not provided
★★☆☆2025
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 492
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)Pathogenic
Methylcobalamin deficiency type cblE|not provided|Disorders of Intracellular Cobalamin Metabolism|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 454
NM_002454.3(MTRR):c.-25-1G>ALikely pathogenic
Neural tube defects, folate-sensitive|Methylcobalamin deficiency type cblE
★★☆☆2025
NM_002454.3(MTRR):c.1677-1G>APathogenic
Neural tube defects, folate-sensitive|Methylcobalamin deficiency type cblE|Methylcobalamin deficiency type cblE;Neural tube defects, folate-sensitive
★★☆☆2025
NM_002454.3(MTRR):c.741del (p.Glu248fs)Pathogenic
Methylcobalamin deficiency type cblE|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 248
NM_002454.3(MTRR):c.166G>A (p.Val56Met)Pathogenic
not provided|Methylcobalamin deficiency type cblE|Methylcobalamin deficiency type cblE;Neural tube defects, folate-sensitive|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 56
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)Pathogenic
Homocystinuria without methylmalonic aciduria|Methylcobalamin deficiency type cblE|Methylcobalamin deficiency type cblE;Neural tube defects, folate-sensitive|Neural tube defects, folate-sensitive
★★☆☆2025→ Residue 114