"Ambry Genetics"[submitter] AND "DDX41"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2278601	NM_016222.4(DDX41):c.1192G>C (p.Val398Leu)	DDX41 (V398L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611309	NM_016222.4(DDX41):c.952G>A (p.Val318Met)	DDX41 (V192M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500215	NM_016222.4(DDX41):c.935+4A>T	DDX41	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2218264	NM_016222.4(DDX41):c.751C>T (p.Pro251Ser)	DDX41 (P251S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537707	NM_016222.4(DDX41):c.715G>A (p.Val239Ile)	DDX41 (V113I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2546811	NM_016222.4(DDX41):c.673G>A (p.Ala225Thr)	DDX41 (A99T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1938763	NM_016222.4(DDX41):c.655C>T (p.Arg219Cys)	DDX41 (R93C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2171194	NM_016222.4(DDX41):c.538A>G (p.Ile180Val)	DDX41 (I54V +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GUncertain significance
Select item 2246713	NM_016222.4(DDX41):c.472G>A (p.Glu158Lys)	DDX41 (E158K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186607	NM_016222.4(DDX41):c.401A>G (p.Lys134Arg)	DDX41 (K8R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1526312	NM_016222.4(DDX41):c.268C>T (p.Gln90Ter)	DDX41 (Q90*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2280583	NM_016222.4(DDX41):c.219T>G (p.Asp73Glu)	DDX41 (D73E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3081025	NM_016222.4(DDX41):c.212G>A (p.Arg71Gln)	DDX41 (R71Q)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 2300665	NM_016222.4(DDX41):c.199G>C (p.Gly67Arg)	DDX41 (G67R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2485005	NM_016222.4(DDX41):c.191A>G (p.Gln64Arg)	DDX41 (Q64R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2167944	NM_016222.4(DDX41):c.189G>C (p.Gln63His)	DDX41 (Q63H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434915	NM_016222.4(DDX41):c.139-4T>G	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 2173418	NM_016222.4(DDX41):c.139-5C>T	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1336382	NM_016222.4(DDX41):c.138+5G>A	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity