ClinVar for Gene (Select 54514) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3081017	NM_024415.3(DDX4):c.256G>A (p.Gly86Arg)	DDX4 (G86R)	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 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 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 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
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 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 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 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 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 2476611	NM_024415.3(DDX4):c.332G>A (p.Arg111Lys)	DDX4 (R111K)	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 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 2247008	NM_024415.3(DDX4):c.89A>G (p.Asn30Ser)	DDX4 (N30S)	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 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 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 1809389	GRCh37/hg19 5q11.2(chr5:55063434-55686587)x3	ANKRD55, DDX4 +2 more	Copy number gain	not provided	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 767999	NM_024415.3(DDX4):c.1172+9A>G	DDX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726743	NM_024415.3(DDX4):c.1344T>G (p.Ala448=)	DDX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 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 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	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 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50