"Revvity Omics, Revvity"[submitter] AND "DDC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202181	NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)	DDC (R347Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 864024	NM_001082971.2(DDC):c.714+4A>T	DDC	Single nucleotide variant (intron variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GPathogenic
Select item 17809	NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)	DDC, DDC-AS1 (G102S)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 1324213	NM_001082971.2(DDC):c.285C>A (p.Cys95Ter)	DDC, DDC-AS1 (C95*)	Single nucleotide variant (nonsense +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 17813	NM_001082971.2(DDC):c.272C>T (p.Ala91Val)	DDC, DDC-AS1 (A91V)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GPathogenic/Likely pathogenic
Select item 1057684	NM_001082971.2(DDC):c.206C>T (p.Thr69Met)	DDC, DDC-AS1 (T69M)	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity

ClinVar