DDX54[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2620641	NM_024072.4(DDX54):c.2633G>A (p.Arg878Gln)	CFAP73, DDX54 (R878Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394024	NM_024072.4(DDX54):c.2624G>A (p.Gly875Asp)	CFAP73, DDX54 (G876D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459558	NM_024072.4(DDX54):c.2591G>T (p.Gly864Val)	CFAP73, DDX54 (G865V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040986	NM_024072.4(DDX54):c.2570G>A (p.Arg857His)	CFAP73, DDX54 (R857H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related condition	GLikely benign
Select item 2311895	NM_024072.4(DDX54):c.2539C>G (p.Leu847Val)	DDX54, CFAP73 (L847V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 983407	NM_024072.4(DDX54):c.2537G>T (p.Gly846Val)	CFAP73, DDX54 (G846V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability	GUncertain significance
Select item 2227509	NM_024072.4(DDX54):c.2531G>A (p.Arg844His)	CFAP73, DDX54 (R845H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325619	NM_024072.4(DDX54):c.2500C>T (p.Arg834Cys)	CFAP73, DDX54 (R834C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	See cases	GUncertain significance
Select item 2495981	NM_024072.4(DDX54):c.2483A>G (p.Gln828Arg)	CFAP73, DDX54 (Q828R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056831	NM_024072.4(DDX54):c.2462C>T (p.Pro821Leu)	CFAP73, DDX54 (P821L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DDX54-related condition	GBenign
Select item 2253837	NM_024072.4(DDX54):c.2453G>A (p.Arg818Gln)	DDX54, CFAP73 (R818Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056314	NM_024072.4(DDX54):c.2407G>A (p.Gly803Ser)	DDX54 (G803S)	Single nucleotide variant (missense variant)	DDX54-related condition	GLikely benign
Select item 2348706	NM_024072.4(DDX54):c.2404C>T (p.Arg802Cys)	DDX54 (R802C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399872	NM_024072.4(DDX54):c.2316A>T (p.Lys772Asn)	DDX54 (K772N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309640	NM_024072.4(DDX54):c.2261A>G (p.Glu754Gly)	DDX54 (E754G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222963	NM_024072.4(DDX54):c.2171C>T (p.Thr724Met)	DDX54 (T724M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381878	NM_024072.4(DDX54):c.2166C>G (p.Asn722Lys)	DDX54 (N722K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471157	NM_024072.4(DDX54):c.2095G>C (p.Gly699Arg)	DDX54 (G699R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355240	NM_024072.4(DDX54):c.2095G>A (p.Gly699Arg)	DDX54 (G699R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620844	NM_024072.4(DDX54):c.2093G>C (p.Ser698Thr)	DDX54 (S698T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055575	NM_024072.4(DDX54):c.2078G>A (p.Arg693Gln)	DDX54 (R693Q)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 3041462	NM_024072.4(DDX54):c.1939-8_1939-5del	DDX54	Deletion (intron variant)	DDX54-related condition	GBenign
Select item 2279973	NM_024072.4(DDX54):c.1867C>T (p.Pro623Ser)	DDX54 (P623S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210194	NM_024072.4(DDX54):c.1850G>A (p.Gly617Asp)	DDX54 (G617D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691938	NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln)	DDX54 (R611Q)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GLikely pathogenic
Select item 1213789	NM_024072.4(DDX54):c.1824G>C (p.Gln608His)	DDX54 (Q608H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617600	NM_024072.4(DDX54):c.1793G>T (p.Arg598Leu)	DDX54 (R598L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357495	NM_024072.4(DDX54):c.1774G>A (p.Ala592Thr)	DDX54 (A592T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335585	NM_024072.4(DDX54):c.1754T>C (p.Leu585Pro)	DDX54 (L585P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591120	NM_024072.4(DDX54):c.1738G>T (p.Ala580Ser)	DDX54 (A580S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046125	NM_024072.4(DDX54):c.1728T>C (p.Phe576=)	DDX54	Single nucleotide variant (synonymous variant)	DDX54-related condition	GLikely benign
Select item 2218354	NM_024072.4(DDX54):c.1718C>T (p.Ala573Val)	DDX54 (A573V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362690	NM_024072.4(DDX54):c.1709G>A (p.Arg570His)	DDX54 (R570H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354817	NM_024072.4(DDX54):c.1676G>A (p.Arg559Gln)	DDX54 (R559Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216506	NM_024072.4(DDX54):c.1649C>T (p.Ser550Leu)	DDX54 (S550L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474532	NM_024072.4(DDX54):c.1633C>T (p.His545Tyr)	DDX54 (H545Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368578	NM_024072.4(DDX54):c.1567C>T (p.Arg523Cys)	DDX54 (R523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357494	NM_024072.4(DDX54):c.1562G>A (p.Arg521His)	DDX54 (R521H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212710	NM_024072.4(DDX54):c.1556A>G (p.Tyr519Cys)	DDX54 (Y519C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268163	NM_024072.4(DDX54):c.1529G>A (p.Arg510His)	DDX54 (R510H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457692	NM_024072.4(DDX54):c.1504T>C (p.Ser502Pro)	DDX54 (S502P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518637	NM_024072.4(DDX54):c.1477A>G (p.Ser493Gly)	DDX54 (S493G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385834	NM_024072.4(DDX54):c.1444C>T (p.Arg482Trp)	DDX54 (R482W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983389	NM_024072.4(DDX54):c.1381C>G (p.Leu461Val)	DDX54 (L461V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2636462	NM_024072.4(DDX54):c.1361A>G (p.His454Arg)	DDX54 (H454R)	Single nucleotide variant (missense variant)	DDX54-related condition	GUncertain significance
Select item 2519828	NM_024072.4(DDX54):c.1312G>A (p.Ala438Thr)	DDX54 (A438T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216899	NM_024072.4(DDX54):c.1276G>A (p.Val426Met)	DDX54 (V426M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343117	NM_024072.4(DDX54):c.1274G>A (p.Arg425His)	DDX54 (R425H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457773	NM_024072.4(DDX54):c.1247C>T (p.Pro416Leu)	DDX54 (P416L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287602	NM_024072.4(DDX54):c.1228G>A (p.Val410Ile)	DDX54 (V410I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594916	NM_024072.4(DDX54):c.1144G>A (p.Ala382Thr)	DDX54 (A382T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037646	NM_024072.4(DDX54):c.1143C>T (p.Leu381=)	DDX54	Single nucleotide variant (synonymous variant)	DDX54-related condition	GBenign
Select item 3046063	NM_024072.4(DDX54):c.1113C>T (p.Ala371=)	DDX54	Single nucleotide variant (synonymous variant)	DDX54-related condition	GBenign
Select item 3041644	NM_024072.4(DDX54):c.1058A>G (p.Tyr353Cys)	DDX54 (Y353C)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 2245715	NM_024072.4(DDX54):c.1030T>A (p.Phe344Ile)	DDX54 (F344I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312421	NM_024072.4(DDX54):c.1019A>T (p.Gln340Leu)	DDX54 (Q340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309344	NM_024072.4(DDX54):c.955C>T (p.Arg319Trp)	DDX54 (R319W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041736	NM_024072.4(DDX54):c.939C>T (p.Thr313=)	DDX54	Single nucleotide variant (synonymous variant)	DDX54-related condition	GBenign
Select item 778662	NM_024072.4(DDX54):c.937-5C>T	DDX54	Single nucleotide variant (intron variant)	DDX54-related condition +1 more	GBenign
Select item 691935	NM_024072.4(DDX54):c.892C>T (p.Leu298Phe)	DDX54 (L298F)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +3 more	GConflicting classifications of pathogenicity
Select item 691939	NM_024072.4(DDX54):c.856G>A (p.Val286Met)	DDX54 (V286M)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 2286366	NM_024072.4(DDX54):c.812G>A (p.Gly271Asp)	DDX54 (G271D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522836	NM_024072.4(DDX54):c.800G>A (p.Arg267His)	DDX54 (R267H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507457	NM_024072.4(DDX54):c.652G>A (p.Asp218Asn)	DDX54 (D218N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691936	NM_024072.4(DDX54):c.647A>G (p.Asn216Ser)	DDX54 (N216S)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +3 more	GLikely pathogenic
Select item 2233292	NM_024072.4(DDX54):c.605G>T (p.Gly202Val)	DDX54 (G202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214239	NM_024072.4(DDX54):c.521C>T (p.Pro174Leu)	DDX54 (P174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2628659	NM_024072.4(DDX54):c.425C>T (p.Thr142Met)	DDX54 (T142M)	Single nucleotide variant (missense variant)	DDX54-related condition	GUncertain significance
Select item 2303189	NM_024072.4(DDX54):c.415A>G (p.Met139Val)	DDX54 (M139V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778663	NM_024072.4(DDX54):c.396T>C (p.Asp132=)	DDX54	Single nucleotide variant (synonymous variant)	DDX54-related condition +1 more	GBenign/Likely benign
Select item 2570439	NM_024072.4(DDX54):c.350A>T (p.Lys117Met)	DDX54 (K117M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206934	NM_024072.4(DDX54):c.301A>G (p.Met101Val)	DDX54 (M101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042262	NM_024072.4(DDX54):c.299C>T (p.Ser100Phe)	DDX54 (S100F)	Single nucleotide variant (missense variant)	DDX54-related condition	GLikely benign
Select item 3055824	NM_024072.4(DDX54):c.268AAG[6] (p.Lys94_Ser95insLys)	DDX54	Microsatellite (inframe insertion)	DDX54-related condition	GBenign
Select item 2378928	NM_024072.4(DDX54):c.244C>T (p.Arg82Trp)	DDX54 (R82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343583	NM_024072.4(DDX54):c.212C>T (p.Ser71Leu)	DDX54 (S71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207737	NM_024072.4(DDX54):c.106G>A (p.Ala36Thr)	DDX54, LOC130008828 (A36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378929	NM_024072.4(DDX54):c.91G>A (p.Gly31Ser)	LOC130008828, DDX54 (G31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691937	NM_024072.4(DDX54):c.58T>A (p.Trp20Arg)	DDX54 (W20R)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GLikely pathogenic
Select item 2407228	NM_024072.4(DDX54):c.41G>T (p.Arg14Leu)	DDX54 (R14L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057131	NM_024072.4(DDX54):c.16G>C (p.Gly6Arg)	DDX54 (G6R)	Single nucleotide variant (missense variant)	DDX54-related condition	GBenign
Select item 2306558	NM_024072.4(DDX54):c.10G>T (p.Asp4Tyr)	DDX54 (D4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 90