"PreventionGenetics, part of Exact Sciences"[submitter] AND "DDX41"[ge - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196326	NM_016222.4(DDX41):c.*3C>T	DDX41	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 3054698	NM_016222.4(DDX41):c.*1G>A	DDX41	Single nucleotide variant (3 prime UTR variant)	DDX41-related disorder	GLikely benign
Select item 2629530	NM_016222.4(DDX41):c.1850A>G (p.His617Arg)	DDX41 (H491R +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 3057954	NM_016222.4(DDX41):c.1668G>A (p.Lys556=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 2712709	NM_016222.4(DDX41):c.1644C>T (p.Leu548=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder +1 more	GLikely benign
Select item 1337816	NM_016222.4(DDX41):c.1622-3C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1901278	NM_016222.4(DDX41):c.1621+3G>A	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3050585	NM_016222.4(DDX41):c.1593C>T (p.Ile531=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 978204	NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)	DDX41 (T403fs +1 more)	Microsatellite (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3036725	NM_016222.4(DDX41):c.1585A>C (p.Thr529Pro)	DDX41 (T403P +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder	GUncertain significance
Select item 1337840	NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys)	DDX41 (Y390C +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +2 more	GUncertain significance
Select item 2633579	NM_016222.4(DDX41):c.1542_1543del (p.Asn515fs)	DDX41 (N389fs +1 more)	Microsatellite (frameshift variant)	DDX41-related disorder	GLikely pathogenic
Select item 3061289	NM_016222.4(DDX41):c.1510G>A (p.Val504Ile)	DDX41 (V378I +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder	GUncertain significance
Select item 1907787	NM_016222.4(DDX41):c.1509C>T (p.His503=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 726954	NM_016222.4(DDX41):c.1479C>T (p.Ser493=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1337229	NM_016222.4(DDX41):c.1470C>T (p.Asp490=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder +2 more	GBenign/Likely benign
Select item 978208	NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln)	DDX41 (R353Q +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GUncertain significance
Select item 1179260	NM_016222.4(DDX41):c.1354C>T (p.Leu452=)	DDX41	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1336306	NM_016222.4(DDX41):c.1299G>A (p.Pro433=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder +2 more	GBenign/Likely benign
Select item 1904793	NM_016222.4(DDX41):c.1275C>T (p.Leu425=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053414	NM_016222.4(DDX41):c.1230+8G>A	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 1211430	NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)	DDX41 (K255* +1 more)	Single nucleotide variant (nonsense)	DDX41-related disorder +1 more	GPathogenic
Select item 2747945	NM_016222.4(DDX41):c.1110G>A (p.Gln370=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2190381	NM_016222.4(DDX41):c.1098+6G>A	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1337038	NM_016222.4(DDX41):c.1013G>A (p.Cys338Tyr)	DDX41 (C212Y +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +1 more	GUncertain significance
Select item 2919574	NM_016222.4(DDX41):c.935+9T>G	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1312512	NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys)	DDX41 (Y133C +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder	GUncertain significance
Select item 1337390	NM_016222.4(DDX41):c.741G>A (p.Glu247=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder +2 more	GBenign/Likely benign
Select item 3061657	NM_016222.4(DDX41):c.714C>T (p.Pro238=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 1337082	NM_016222.4(DDX41):c.690C>G (p.Gly230=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder +2 more	GLikely benign
Select item 1217660	NM_016222.4(DDX41):c.653G>A (p.Gly218Asp)	DDX41 (G218D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1188500	NM_016222.4(DDX41):c.649T>C (p.Ser217Pro)	DDX41 (S217P +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2810708	NM_016222.4(DDX41):c.645-8C>T	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1337813	NM_016222.4(DDX41):c.645-10C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1327764	NM_016222.4(DDX41):c.643A>C (p.Ile215Leu)	DDX41 (I215L +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +2 more	GUncertain significance
Select item 3029275	NM_016222.4(DDX41):c.627C>T (p.Ile209=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 2044907	NM_016222.4(DDX41):c.591G>A (p.Lys197=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633576	NM_016222.4(DDX41):c.583G>C (p.Gly195Arg)	DDX41 (G195R +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder	GUncertain significance
Select item 2674796	NM_016222.4(DDX41):c.575del (p.Ile192fs)	DDX41 (I192fs +1 more)	Deletion (frameshift variant)	DDX41-related disorder +1 more	GLikely pathogenic
Select item 3050842	NM_016222.4(DDX41):c.572-5C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 3036817	NM_016222.4(DDX41):c.508C>T (p.Leu170=)	DDX41	Single nucleotide variant (synonymous variant)	DDX41-related disorder	GLikely benign
Select item 2974753	NM_016222.4(DDX41):c.456T>A (p.Val152=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2971951	NM_016222.4(DDX41):c.435-8A>C	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder +1 more	GLikely benign
Select item 3031099	NM_016222.4(DDX41):c.435-9C>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 2500228	NM_016222.4(DDX41):c.423del (p.Ile142fs)	DDX41 (I142fs +1 more)	Deletion (frameshift variant)	DDX41-related disorder	GLikely pathogenic
Select item 2629809	NM_016222.4(DDX41):c.362C>T (p.Ala121Val)	DDX41 (A121V)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GUncertain significance
Select item 3050365	NM_016222.4(DDX41):c.298+8G>T	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 2746035	NM_016222.4(DDX41):c.298+8G>A	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1338190	NM_016222.4(DDX41):c.291G>A (p.Lys97=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder +2 more	GLikely benign
Select item 2634951	NM_016222.4(DDX41):c.255C>G (p.Val85=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GUncertain significance
Select item 3032027	NM_016222.4(DDX41):c.192G>A (p.Gln64=)	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GLikely benign
Select item 3042404	NM_016222.4(DDX41):c.154C>T (p.Gln52Ter)	DDX41 (Q52*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related disorder	GLikely pathogenic
Select item 434915	NM_016222.4(DDX41):c.139-4T>G	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 2173418	NM_016222.4(DDX41):c.139-5C>T	DDX41	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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)	DDX41-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 489285	NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)	DDX41 (Q41*)	Single nucleotide variant (5 prime UTR variant +1 more)	DDX41-related hematologic malignancy predisposition syndrome +2 more	GPathogenic
Select item 3053360	NM_016222.4(DDX41):c.28-10G>C	DDX41	Single nucleotide variant (intron variant)	DDX41-related disorder	GLikely benign
Select item 782466	NM_016222.4(DDX41):c.27+2_27+5dup	DDX41	Duplication (splice donor variant)	DDX41-related disorder +1 more	GBenign
Select item 224637	NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	DDX41 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 59