NM_001082971.2(DDC):c.714+4A>TPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2026
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2026β Residue 375
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 96
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|See cases|not provided
β
β
ββ2025β Residue 347
NM_001082971.2(DDC):c.128del (p.Pro43fs)Pathogenic
Inborn genetic diseases|Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 43
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β
β
ββ2025β Residue 7
NM_001082971.2(DDC):c.201+5G>CPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β
β
ββ2025
NM_001082971.2(DDC):c.201+1G>CLikely pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 275
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 447
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025β Residue 237
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025β Residue 81
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025β Residue 69
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 91
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β
β
ββ2025β Residue 358
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)Likely pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025β Residue 123
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided|RASopathy
β
β
ββ2025β Residue 412
NM_000790.4(DDC):c.316delPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2025
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β
β
ββ2025β Residue 416
NM_001082971.2(DDC):c.1297dup (p.Ile433fs)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β
β
ββ2024β Residue 433