"Mendelics"[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 1683497	NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys)	DDC (Y239C +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase	GPathogenic
Select item 568083	NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)	DDC (N308I +4 more)	Single nucleotide variant (missense variant)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 235399	NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)	DDC (P210L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 802310	NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)	DDC (S69I +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GLikely pathogenic
Select item 1498769	NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)	DDC, DDC-AS1 (W83R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase	GConflicting classifications of pathogenicity

ClinVar