ClinVar for Gene (Select 11218) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271263	NM_007204.5(DDX20):c.913A>G (p.Ser305Gly)	DDX20 (S305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080929	NM_007204.5(DDX20):c.986T>C (p.Leu329Pro)	DDX20 (L329P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080928	NM_007204.5(DDX20):c.52A>C (p.Met18Leu)	DDX20 (M18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080927	NM_007204.5(DDX20):c.35C>T (p.Ala12Val)	DDX20 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080926	NM_007204.5(DDX20):c.272A>T (p.Lys91Met)	DDX20 (K91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080925	NM_007204.5(DDX20):c.2461C>A (p.His821Asn)	DDX20 (H821N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080924	NM_007204.5(DDX20):c.2375C>A (p.Ser792Tyr)	DDX20 (S792Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080923	NM_007204.5(DDX20):c.2299T>C (p.Ser767Pro)	DDX20 (S767P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080922	NM_007204.5(DDX20):c.2188A>G (p.Arg730Gly)	DDX20 (R730G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080921	NM_007204.5(DDX20):c.1838T>C (p.Ile613Thr)	DDX20 (I613T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080920	NM_007204.5(DDX20):c.1673C>T (p.Thr558Ile)	DDX20 (T558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080919	NM_007204.5(DDX20):c.1567G>A (p.Glu523Lys)	DDX20 (E523K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080918	NM_007204.5(DDX20):c.1367A>G (p.Lys456Arg)	DDX20 (K456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2638995	NM_007204.5(DDX20):c.1262TGA[2] (p.Met423del)	DDX20 (M423del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2616878	NM_007204.5(DDX20):c.844G>A (p.Val282Ile)	DDX20 (V282I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604279	NM_007204.5(DDX20):c.252G>C (p.Arg84Ser)	DDX20 (R84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591007	NM_007204.5(DDX20):c.2221C>T (p.Arg741Trp)	DDX20 (R741W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548879	NM_007204.5(DDX20):c.2461C>T (p.His821Tyr)	DDX20 (H821Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528241	NM_007204.5(DDX20):c.379G>A (p.Glu127Lys)	DDX20 (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522927	NM_007204.5(DDX20):c.1902A>T (p.Lys634Asn)	DDX20 (K634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507456	NM_007204.5(DDX20):c.1597C>T (p.Pro533Ser)	DDX20 (P533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479943	NM_007204.5(DDX20):c.2004A>C (p.Lys668Asn)	DDX20 (K668N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472142	NM_007204.5(DDX20):c.1184A>G (p.His395Arg)	DDX20 (H395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466979	NM_007204.5(DDX20):c.1207T>G (p.Phe403Val)	DDX20 (F403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461920	NM_007204.5(DDX20):c.2371G>A (p.Ala791Thr)	DDX20 (A791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2409585	NM_007204.5(DDX20):c.181C>T (p.Pro61Ser)	DDX20 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400637	NM_007204.5(DDX20):c.19G>T (p.Ala7Ser)	DDX20 (A7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394061	NM_007204.5(DDX20):c.1310C>T (p.Pro437Leu)	DDX20 (P437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385702	NM_007204.5(DDX20):c.182C>T (p.Pro61Leu)	DDX20 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366063	NM_007204.5(DDX20):c.1043G>A (p.Arg348His)	DDX20 (R348H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353783	NM_007204.5(DDX20):c.5C>G (p.Ala2Gly)	DDX20 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340326	NM_007204.5(DDX20):c.790G>A (p.Val264Ile)	DDX20 (V264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338531	NM_007204.5(DDX20):c.1631A>C (p.Glu544Ala)	DDX20 (E544A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327431	NM_007204.5(DDX20):c.37G>A (p.Ala13Thr)	DDX20 (A13T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321833	NM_007204.5(DDX20):c.604C>G (p.Pro202Ala)	DDX20 (P202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308071	NM_007204.5(DDX20):c.376C>G (p.Leu126Val)	DDX20 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306557	NM_007204.5(DDX20):c.341G>C (p.Cys114Ser)	DDX20 (C114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259722	NM_007204.5(DDX20):c.818T>A (p.Leu273His)	DDX20 (L273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259677	NM_007204.5(DDX20):c.1007C>A (p.Ala336Asp)	DDX20 (A336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223870	NM_007204.5(DDX20):c.2377C>T (p.His793Tyr)	DDX20 (H793Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220123	NM_007204.5(DDX20):c.1813G>C (p.Gly605Arg)	DDX20 (G605R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 981018	NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser)	DDX20 (L746S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 784955	NM_007204.5(DDX20):c.1775C>A (p.Ala592Asp)	DDX20 (A592D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721089	NM_007204.5(DDX20):c.410C>G (p.Ala137Gly)	DDX20 (A137G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 56