"GeneDx"[submitter] AND "DDX6"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1300455	NM_004397.6(DDX6):c.*70C>T	DDX6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1300447	NM_004397.6(DDX6):c.*8-179A>G	DDX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2505034	NM_004397.6(DDX6):c.1448C>T (p.Pro483Leu)	DDX6 (P483L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3081185	NM_004397.6(DDX6):c.1355A>G (p.Gln452Arg)	DDX6 (Q409R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1810668	NM_004397.6(DDX6):c.1285G>A (p.Gly429Ser)	DDX6 (G429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255475	NM_004397.6(DDX6):c.1277-13G>A	DDX6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1809848	NM_004397.6(DDX6):c.1201C>G (p.Gln401Glu)	DDX6 (Q401E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694351	NM_004397.6(DDX6):c.1172C>T (p.Thr391Ile)	DDX6 (T391I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1699744	NM_004397.6(DDX6):c.587T>C (p.Val196Ala)	DDX6 (V196A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699612	NM_004397.6(DDX6):c.241A>C (p.Lys81Gln)	DDX6 (K81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574413	NM_004397.6(DDX6):c.37G>T (p.Gly13Cys)	DDX6 (G13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 3361798	NM_004397.6(DDX6):c.584A>G (p.Lys195Arg)	DDX6 (K194R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360992	NM_004397.6(DDX6):c.760C>T (p.Gln254Ter)	DDX6 (Q146* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance