DDX11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 741411	NM_030653.4(DDX11):c.39T>C (p.Phe13=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739460	NM_030653.4(DDX11):c.48C>T (p.Pro16=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080891	NM_030653.4(DDX11):c.59A>G (p.Tyr20Cys)	DDX11 (Y20C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 711922	NM_030653.4(DDX11):c.90G>C (p.Leu30=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764004	NM_030653.4(DDX11):c.94C>T (p.Arg32Trp)	DDX11 (R32W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3271248	NM_030653.4(DDX11):c.124T>C (p.Phe42Leu)	DDX11 (F42L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2617786	NM_030653.4(DDX11):c.137C>G (p.Thr46Ser)	DDX11 (T46S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 708407	NM_030653.4(DDX11):c.147G>A (p.Gly49=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3271249	NM_030653.4(DDX11):c.149A>C (p.Lys50Thr)	DDX11 (K24T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3080877	NM_030653.4(DDX11):c.164T>C (p.Ile55Thr)	DDX11 (I29T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2521664	NM_030653.4(DDX11):c.188G>A (p.Arg63His)	DDX11 (R63H +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 521211	NM_030653.4(DDX11):c.223C>T (p.Arg75Ter)	DDX11 (R75* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2355123	NM_030653.4(DDX11):c.233A>G (p.Glu78Gly)	DDX11 (E78G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774326	NM_030653.4(DDX11):c.254A>G (p.His85Arg)	DDX11 (H59R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3080885	NM_030653.4(DDX11):c.263A>G (p.Lys88Arg)	DDX11 (K62R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3239129	NM_030653.4(DDX11):c.294C>T (p.Cys98=)	DDX11	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2312365	NM_030653.4(DDX11):c.295G>A (p.Glu99Lys)	DDX11 (E73K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080887	NM_030653.4(DDX11):c.296A>G (p.Glu99Gly)	DDX11 (E73G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 725839	NM_030653.4(DDX11):c.315G>A (p.Pro105=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1254465	NM_030653.4(DDX11):c.332C>T (p.Pro111Leu)	DDX11 (P111L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737556	NM_030653.4(DDX11):c.394-7C>T	DDX11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312659	NM_030653.4(DDX11):c.395C>T (p.Ala132Val)	DDX11 (A106V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746715	NM_030653.4(DDX11):c.399G>A (p.Glu133=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254979	NM_030653.4(DDX11):c.409A>G (p.Arg137Gly)	DDX11 (R111G +1 more)	Single nucleotide variant (missense variant +3 more)	Warsaw breakage syndrome	GUncertain significance
Select item 3382659	NM_030653.4(DDX11):c.418C>T (p.Arg140Ter)	DDX11 (R114* +1 more)	Single nucleotide variant (nonsense +3 more)	Warsaw breakage syndrome	GLikely pathogenic
Select item 715882	NM_030653.4(DDX11):c.419G>A (p.Arg140Gln)	DDX11 (R114Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2382009	NM_030653.4(DDX11):c.427C>T (p.Arg143Cys)	DDX11 (R117C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229324	NM_030653.4(DDX11):c.428G>A (p.Arg143His)	DDX11 (R117H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739461	NM_030653.4(DDX11):c.450G>A (p.Arg150=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218064	NM_030653.4(DDX11):c.475C>T (p.Arg159Cys)	DDX11 (R159C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080889	NM_030653.4(DDX11):c.476G>A (p.Arg159His)	DDX11 (R159H +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1806601	NM_030653.4(DDX11):c.481-2del	DDX11	Deletion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 489053	NM_030653.4(DDX11):c.484C>T (p.Gln162Ter)	DDX11 (Q162* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2355914	NM_030653.4(DDX11):c.499A>G (p.Arg167Gly)	DDX11 (R138G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2524400	NM_030653.4(DDX11):c.515G>A (p.Arg172His)	DDX11 (R143H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1336379	NM_030653.4(DDX11):c.545C>T (p.Pro182Leu)	DDX11 (P156L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3025897	NM_030653.4(DDX11):c.546G>A (p.Pro182=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3080890	NM_030653.4(DDX11):c.593T>G (p.Val198Gly)	DDX11 (V198G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3080892	NM_030653.4(DDX11):c.632C>T (p.Ala211Val)	DDX11 (A211V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2642816	NM_030653.4(DDX11):c.633G>A (p.Ala211=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1255465	NM_030653.4(DDX11):c.638+15G>A	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2498552	NM_030653.4(DDX11):c.638+1040C>T	DDX11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 746453	NM_030653.4(DDX11):c.639-11CA[4]	DDX11	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 713123	NM_030653.4(DDX11):c.639-11CA[3]	DDX11	Microsatellite (splice acceptor variant)	not provided	GLikely benign
Select item 768536	NM_030653.4(DDX11):c.639-10A>T	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 797410	NM_030653.4(DDX11):c.639-8A>T	DDX11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713124	NM_030653.4(DDX11):c.639-6A>T	DDX11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3080893	NM_030653.4(DDX11):c.658G>A (p.Asp220Asn)	DDX11 (D220N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1255466	NM_030653.4(DDX11):c.684+8A>G	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2476359	NM_030653.4(DDX11):c.700C>G (p.Arg234Gly)	DDX11 (R208G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224699	NM_030653.4(DDX11):c.700C>T (p.Arg234Trp)	DDX11 (R58W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470313	NM_030653.4(DDX11):c.701G>A (p.Arg234Gln)	DDX11 (R208Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1686615	NM_030653.4(DDX11):c.767G>A (p.Arg256Gln)	DDX11 (R230Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3382073	NM_030653.4(DDX11):c.782del (p.Gly261fs)	DDX11 (G232fs +3 more)	Deletion (frameshift variant +2 more)	Warsaw breakage syndrome	GLikely pathogenic
Select item 3080894	NM_030653.4(DDX11):c.784T>A (p.Ser262Thr)	DDX11 (S236T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 39995	NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)	DDX11 (R263Q +1 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GPathogenic
Select item 2637847	NM_030653.4(DDX11):c.792+1G>A	DDX11	Single nucleotide variant (splice donor variant)	Warsaw breakage syndrome	GLikely pathogenic
Select item 3080895	NM_030653.4(DDX11):c.827G>A (p.Gly276Asp)	DDX11 (G100D +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 723844	NM_030653.4(DDX11):c.851G>A (p.Arg284His)	DDX11 (R258H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1255467	NM_030653.4(DDX11):c.855T>C (p.Cys285=)	DDX11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2301275	NM_030653.4(DDX11):c.856G>A (p.Val286Met)	DDX11 (V257M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1805319	NM_030653.4(DDX11):c.877C>T (p.His293Tyr)	DDX11 (H117Y +4 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1255468	NM_030653.4(DDX11):c.880+16A>G	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3271247	NM_030653.4(DDX11):c.890A>C (p.Lys297Thr)	DDX11 (K271T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2642817	NM_030653.4(DDX11):c.906G>A (p.Glu302=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1326514	NM_030653.4(DDX11):c.927G>C (p.Gln309His)	DDX11 (Q283H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2226268	NM_030653.4(DDX11):c.953A>G (p.Tyr318Cys)	DDX11 (Y142C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642818	NM_030653.4(DDX11):c.963G>A (p.Glu321=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2316232	NM_030653.4(DDX11):c.969G>A (p.Met323Ile)	DDX11 (M1I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080867	NM_030653.4(DDX11):c.1027C>T (p.Leu343Phe)	DDX11 (L317F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1231854	NM_030653.4(DDX11):c.1040C>A (p.Ala347Asp)	DDX11 (A321D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2218681	NM_030653.4(DDX11):c.1042C>T (p.Arg348Trp)	DDX11 (R26W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683965	NM_030653.4(DDX11):c.1060G>A (p.Gly354Arg)	DDX11 (G328R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3080868	NM_030653.4(DDX11):c.1069C>G (p.Leu357Val)	DDX11 (L181V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3271253	NM_030653.4(DDX11):c.1078C>T (p.Pro360Ser)	DDX11 (P73S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080869	NM_030653.4(DDX11):c.1087C>A (p.Gln363Lys)	DDX11 (Q41K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174657	NM_030653.4(DDX11):c.1106A>G (p.Tyr369Cys)	DDX11 (Y343C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421308	NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro)	DDX11 (R378P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3341027	NM_030653.4(DDX11):c.1153C>T (p.Leu385=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 376800	NM_030653.4(DDX11):c.1160_1165del (p.Asp387_Gln388del)	DDX11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1805318	NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys)	DDX11 (E107K +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1801981	NM_030653.4(DDX11):c.1185G>A (p.Ala395=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2553409	NM_030653.4(DDX11):c.1198G>A (p.Asp400Asn)	DDX11 (D400N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080870	NM_030653.4(DDX11):c.1211G>T (p.Gly404Val)	DDX11 (G228V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642819	NM_030653.4(DDX11):c.1221C>T (p.Ser407=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2440724	NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser)	DDX11 (G125S +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 218806	NM_030653.4(DDX11):c.1242+4T>C	DDX11	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2517886	NM_030653.4(DDX11):c.1276G>A (p.Val426Met)	DDX11 (V104M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2244635	NM_030653.4(DDX11):c.1288G>C (p.Gly430Arg)	DDX11 (G108R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 742860	NM_030653.4(DDX11):c.1290-6_1290-4del	DDX11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 737398	NM_030653.4(DDX11):c.1299G>A (p.Leu433=)	DDX11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080871	NM_030653.4(DDX11):c.1341G>T (p.Leu447Phe)	DDX11 (L271F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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