DDX41[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 1336923	NM_016222.4(DDX41):c.*194A>G	DDX41	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1336614	NM_016222.4(DDX41):c.*181C>G	DDX41	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1205457	NM_016222.4(DDX41):c.*97C>T	DDX41	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 434911	NM_016222.4(DDX41):c.*74C>T	DDX41	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1337429	NM_016222.4(DDX41):c.*63T>C	DDX41	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1196326	NM_016222.4(DDX41):c.*3C>T	DDX41	Single nucleotide variant (3 prime UTR variant)	not provided +1 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 2811517	NM_016222.4(DDX41):c.1868G>A (p.Ter623=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2877539	NM_016222.4(DDX41):c.1854C>T (p.Ser618=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	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 2762106	NM_016222.4(DDX41):c.1836G>A (p.Lys612=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446223	NM_016222.4(DDX41):c.1828G>A (p.Gly610Ser)	DDX41 (G484S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337686	NM_016222.4(DDX41):c.1827C>T (p.Ile609=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2958373	NM_016222.4(DDX41):c.1794C>T (p.Leu598=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720235	NM_016222.4(DDX41):c.1789A>G (p.Lys597Glu)	DDX41 (K471E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500224	NM_016222.4(DDX41):c.1759G>T (p.Gly587Cys)	DDX41 (G461C +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 2186096	NM_016222.4(DDX41):c.1755C>T (p.Cys585=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969582	NM_016222.4(DDX41):c.1740C>T (p.Arg580=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442413	NM_016222.4(DDX41):c.1739G>A (p.Arg580His)	DDX41 (R454H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980118	NM_016222.4(DDX41):c.1733-3C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2992817	NM_016222.4(DDX41):c.1733-17del	DDX41	Deletion (intron variant)	not provided	GLikely benign
Select item 1908592	NM_016222.4(DDX41):c.1733-18_1733-17del	DDX41	Deletion (intron variant)	not provided	GLikely benign
Select item 2792789	NM_016222.4(DDX41):c.1733-20C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240812	NM_016222.4(DDX41):c.1732+46A>G	DDX41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1896836	NM_016222.4(DDX41):c.1732+19C>A	DDX41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868469	NM_016222.4(DDX41):c.1732+14G>A	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905854	NM_016222.4(DDX41):c.1732+13C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881112	NM_016222.4(DDX41):c.1732+6T>G	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1338572	NM_016222.4(DDX41):c.1721del (p.Leu574fs)	DDX41 (L448fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2500227	NM_016222.4(DDX41):c.1709A>G (p.Asp570Gly)	DDX41 (D444G +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 1954657	NM_016222.4(DDX41):c.1704C>T (p.Cys568=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005966	NM_016222.4(DDX41):c.1693G>T (p.Val565Leu)	DDX41 (V439L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982762	NM_016222.4(DDX41):c.1684G>A (p.Val562Met)	DDX41 (V562M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434912	NM_016222.4(DDX41):c.1683C>T (p.Pro561=)	DDX41	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3018084	NM_016222.4(DDX41):c.1680G>A (p.Pro560=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794854	NM_016222.4(DDX41):c.1679C>T (p.Pro560Leu)	DDX41 (P560L +1 more)	Single nucleotide variant (missense variant)	not provided	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 977491	NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn)	DDX41 (K430N +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome +1 more	GUncertain significance
Select item 434913	NM_016222.4(DDX41):c.1665C>T (p.Ala555=)	DDX41	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1337040	NM_016222.4(DDX41):c.1650G>A (p.Ala550=)	DDX41	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2712709	NM_016222.4(DDX41):c.1644C>T (p.Leu548=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3342494	NM_016222.4(DDX41):c.1628C>G (p.Ser543Ter)	DDX41 (S417* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3241314	NM_016222.4(DDX41):c.1622-3C>A	DDX41	Single nucleotide variant (intron variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance
Select item 1337816	NM_016222.4(DDX41):c.1622-3C>T	DDX41	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1336019	NM_016222.4(DDX41):c.1622-5C>G	DDX41	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1248286	NM_016222.4(DDX41):c.1622-20C>G	DDX41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186712	NM_016222.4(DDX41):c.1621+36T>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100229	NM_016222.4(DDX41):c.1621+18G>A	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190208	NM_016222.4(DDX41):c.1621+9G>A	DDX41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2993156	NM_016222.4(DDX41):c.1621+6T>C	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1698850	NM_016222.4(DDX41):c.1621+5G>T	DDX41	Single nucleotide variant (intron variant)	Myelodysplastic syndrome	GPathogenic
Select item 1901278	NM_016222.4(DDX41):c.1621+3G>A	DDX41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2030306	NM_016222.4(DDX41):c.1611C>T (p.Asn537=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2500216	NM_016222.4(DDX41):c.1603_1605delinsA (p.Phe535fs)	DDX41 (F409fs +1 more)	Indel (frameshift variant)	DDX41-related hematologic malignancy predisposition syndrome	GPathogenic
Select item 1928156	NM_016222.4(DDX41):c.1602C>T (p.Thr534=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783996	NM_016222.4(DDX41):c.1599T>G (p.Thr533=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2500222	NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp)	DDX41 (G404D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	GPathogenic
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 2779370	NM_016222.4(DDX41):c.1585A>G (p.Thr529Ala)	DDX41 (T529A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901432	NM_016222.4(DDX41):c.1577C>T (p.Ser526Leu)	DDX41 (S400L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224634	NM_016222.4(DDX41):c.1574G>A (p.Arg525His)	DDX41 (R525H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835738	NM_016222.4(DDX41):c.1570G>A (p.Gly524Arg)	DDX41 (G398R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197018	NM_016222.4(DDX41):c.1569C>T (p.Thr523=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014347	NM_016222.4(DDX41):c.1565G>A (p.Arg522His)	DDX41 (R522H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580837	NM_016222.4(DDX41):c.1563C>T (p.Gly521=)	DDX41	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2760377	NM_016222.4(DDX41):c.1550-4G>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982992	NM_016222.4(DDX41):c.1550-11_1550-9del	DDX41	Deletion (intron variant)	not provided	GLikely benign
Select item 1300402	NM_016222.4(DDX41):c.1550-24G>C	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854783	NM_016222.4(DDX41):c.1549+19A>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908897	NM_016222.4(DDX41):c.1549+15C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969870	NM_016222.4(DDX41):c.1549+9C>G	DDX41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044946	NM_016222.4(DDX41):c.1549+8C>T	DDX41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1337840	NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys)	DDX41 (Y390C +1 more)	Single nucleotide variant (missense variant)	DDX41-related disorder +3 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 2864398	NM_016222.4(DDX41):c.1538T>C (p.Ile513Thr)	DDX41 (I387T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910010	NM_016222.4(DDX41):c.1532A>G (p.Glu511Gly)	DDX41 (E385G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981975	NM_016222.4(DDX41):c.1528C>T (p.Pro510Ser)	DDX41 (P384S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061289	NM_016222.4(DDX41):c.1510G>A (p.Val504Ile)	DDX41 (V378I +1 more)	Single nucleotide variant (missense variant)	DDX41-related hematologic malignancy predisposition syndrome	GUncertain significance

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