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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDC, DDC-AS1
(G102S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Deficiency of aromatic-L-amino-acid decarboxylase
GPathogenic
DDC, DDC-AS1
(C95*)
Single nucleotide variant
(nonsense +2 more)
Deficiency of aromatic-L-amino-acid decarboxylase
GLikely pathogenic
DDC, DDC-AS1
(A91V)
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DDC, DDC-AS1
(T69M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Deficiency of aromatic-L-amino-acid decarboxylase
GConflicting classifications of pathogenicity
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