DDX4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 2407016	NM_024415.3(DDX4):c.50A>G (p.Tyr17Cys)	DDX4 (Y17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247008	NM_024415.3(DDX4):c.89A>G (p.Asn30Ser)	DDX4 (N30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081017	NM_024415.3(DDX4):c.256G>A (p.Gly86Arg)	DDX4 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476611	NM_024415.3(DDX4):c.332G>A (p.Arg111Lys)	DDX4 (R111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535847	NM_024415.3(DDX4):c.343A>T (p.Asn115Tyr)	DDX4 (N16Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397913	NM_024415.3(DDX4):c.364A>G (p.Thr122Ala)	DDX4 (T23A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081018	NM_024415.3(DDX4):c.375A>C (p.Arg125Ser)	DDX4 (R26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081019	NM_024415.3(DDX4):c.418G>A (p.Glu140Lys)	DDX4 (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403567	NM_024415.3(DDX4):c.434A>G (p.Tyr145Cys)	DDX4 (Y145C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081020	NM_024415.3(DDX4):c.520T>C (p.Cys174Arg)	DDX4 (C140R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240355	NM_024415.3(DDX4):c.617G>A (p.Ser206Asn)	DDX4 (S186N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596068	NM_024415.3(DDX4):c.740T>C (p.Ile247Thr)	DDX4 (I247T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597372	NM_024415.3(DDX4):c.842A>G (p.His281Arg)	DDX4 (H281R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081021	NM_024415.3(DDX4):c.908T>C (p.Ile303Thr)	DDX4 (I269T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081022	NM_024415.3(DDX4):c.911C>T (p.Ala304Val)	DDX4 (A284V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081023	NM_024415.3(DDX4):c.977G>A (p.Arg326Gln)	DDX4 (R292Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474790	NM_024415.3(DDX4):c.1058A>T (p.Asp353Val)	DDX4 (D204V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266553	NM_024415.3(DDX4):c.1076G>A (p.Arg359His)	DDX4 (R339H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081014	NM_024415.3(DDX4):c.1088T>C (p.Leu363Ser)	DDX4 (L343S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278555	NM_024415.3(DDX4):c.1133T>C (p.Val378Ala)	DDX4 (V358A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767999	NM_024415.3(DDX4):c.1172+9A>G	DDX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2224084	NM_024415.3(DDX4):c.1179T>G (p.Cys393Trp)	DDX4 (C244W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531292	NM_024415.3(DDX4):c.1281G>A (p.Met427Ile)	DDX4 (M278I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081015	NM_024415.3(DDX4):c.1320C>G (p.Ile440Met)	DDX4 (I406M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726743	NM_024415.3(DDX4):c.1344T>G (p.Ala448=)	DDX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402433	NM_024415.3(DDX4):c.1358A>G (p.Asp453Gly)	DDX4 (D453G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774446	NM_024415.3(DDX4):c.1414A>G (p.Lys472Glu)	DDX4 (K472E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3271313	NM_024415.3(DDX4):c.1467A>T (p.Gln489His)	DDX4 (Q340H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287165	NM_024415.3(DDX4):c.1478C>T (p.Ala493Val)	DDX4 (A344V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024482	NM_024415.3(DDX4):c.1532C>T (p.Ala511Val)	DDX4 (A362V +3 more)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 3271311	NM_024415.3(DDX4):c.1555G>A (p.Val519Ile)	DDX4 (V370I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235968	NM_024415.3(DDX4):c.1607G>A (p.Arg536Gln)	DDX4 (R387Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081016	NM_024415.3(DDX4):c.1921A>G (p.Ile641Val)	DDX4 (I607V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271312	NM_024415.3(DDX4):c.2038A>G (p.Ile680Val)	DDX4 (I680V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300238	NM_024415.3(DDX4):c.2135C>T (p.Ser712Leu)	DDX4 (S692L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303971	NM_024415.3(DDX4):c.2150C>T (p.Pro717Leu)	DDX4 (P683L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 1809389	GRCh37/hg19 5q11.2(chr5:55063434-55686587)x3	ANKRD55, DDX4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50