"GeneDx"[submitter] AND "DDC-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 1251771	NM_001082971.2(DDC):c.435+260G>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678661	NM_001082971.2(DDC):c.435+61C>T	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1001454	NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)	DDC, DDC-AS1 (G104R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2735025	NM_001082971.2(DDC):c.323G>A (p.Ser108Asn)	DDC, DDC-AS1 (S108N +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 1301219	NM_001082971.2(DDC):c.315+260T>A	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245436	NM_001082971.2(DDC):c.315+225C>G	DDC, DDC-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 360441	NM_001082971.2(DDC):c.234C>T (p.Ala78=)	DDC, DDC-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Deficiency of aromatic-L-amino-acid decarboxylase +1 more	GBenign