"Ambry Genetics"[submitter] AND "DDX19A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2301822	NM_018332.5(DDX19A):c.40G>A (p.Glu14Lys)	DDX19A (E14K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080911	NM_018332.5(DDX19A):c.53A>C (p.Lys18Thr)	DDX19A (K18T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526012	NM_018332.5(DDX19A):c.69G>T (p.Leu23Phe)	DDX19A (L23F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322619	NM_018332.5(DDX19A):c.101C>G (p.Thr34Ser)	DDX19A (T34S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080907	NM_018332.5(DDX19A):c.104A>G (p.Asn35Ser)	DDX19A (N35S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209180	NM_018332.5(DDX19A):c.128C>T (p.Thr43Ile)	DDX19A (T43I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215441	NM_018332.5(DDX19A):c.133G>A (p.Glu45Lys)	DDX19A (E45K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080908	NM_018332.5(DDX19A):c.250A>C (p.Asn84His)	DDX19A (N84H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2308530	NM_018332.5(DDX19A):c.290G>A (p.Arg97Gln)	DDX19A (R97Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080909	NM_018332.5(DDX19A):c.359A>T (p.Asn120Ile)	DDX19A (N120I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2257257	NM_018332.5(DDX19A):c.370A>G (p.Met124Val)	DDX19A (M34V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080910	NM_018332.5(DDX19A):c.430A>T (p.Thr144Ser)	DDX19A (T113S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080912	NM_018332.5(DDX19A):c.658G>A (p.Val220Met)	DDX19A (V130M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271259	NM_018332.5(DDX19A):c.772C>T (p.Arg258Cys)	DDX19A (R227C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364347	NM_018332.5(DDX19A):c.1091G>C (p.Gly364Ala)	DDX19A (G214A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474076	NM_018332.5(DDX19A):c.1135C>G (p.Arg379Gly)	DDX19A (R289G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349291	NM_018332.5(DDX19A):c.1139A>C (p.Glu380Ala)	DDX19A (E203A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance