ClinVar for Gene (Select 1663) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3080886	NM_030653.4(DDX11):c.2698C>T (p.Arg900Trp)	DDX11 (P611L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3080884	NM_030653.4(DDX11):c.2482C>T (p.Pro828Ser)	DDX11 (P541S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080883	NM_030653.4(DDX11):c.2481C>G (p.Pro827=)	DDX11 (P539A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3080882	NM_030653.4(DDX11):c.2460C>T (p.Pro820=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3080881	NM_030653.4(DDX11):c.2460C>G (p.Pro820=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3080880	NM_030653.4(DDX11):c.2068C>T (p.Arg690Cys)	DDX11 (R514C +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3080879	NM_030653.4(DDX11):c.2062G>C (p.Val688Leu)	DDX11 (V401L +5 more)	Single nucleotide variant (missense variant +2 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 3080876	NM_030653.4(DDX11):c.1622C>T (p.Thr541Met)	DDX11 (T365M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080875	NM_030653.4(DDX11):c.1466A>G (p.Asn489Ser)	DDX11 (N167S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080874	NM_030653.4(DDX11):c.1459A>G (p.Ile487Val)	DDX11 (I200V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080872	NM_030653.4(DDX11):c.1360G>T (p.Val454Leu)	DDX11 (V132L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
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 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 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 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 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3026622	NM_030653.4(DDX11):c.1641C>T (p.Ala547=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642824	NM_030653.4(DDX11):c.*137C>A	DDX11 (C664* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GBenign
Select item 2642823	NM_030653.4(DDX11):c.*17T>G	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2642822	NM_030653.4(DDX11):c.1875+290T>C	DDX11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642821	NM_030653.4(DDX11):c.1840C>T (p.Arg614Trp)	DDX11 (R292W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2642820	NM_030653.4(DDX11):c.1437C>T (p.Asn479=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2642818	NM_030653.4(DDX11):c.963G>A (p.Glu321=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2642816	NM_030653.4(DDX11):c.633G>A (p.Ala211=)	DDX11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2623770	NM_030653.4(DDX11):c.1577A>G (p.Lys526Arg)	DDX11 (K239R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 2616990	NM_030653.4(DDX11):c.1430C>A (p.Thr477Asn)	DDX11 (T155N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614304	NM_030653.4(DDX11):c.2007C>A (p.Asn669Lys)	DDX11 (N347K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597899	NM_030653.4(DDX11):c.1438G>A (p.Asp480Asn)	DDX11 (D193N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588425	NM_030653.4(DDX11):c.1928G>A (p.Arg643His)	DDX11 (R467H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570823	NM_030653.4(DDX11):c.*159G>A	DDX11 (V672I +2 more)	Single nucleotide variant (missense variant +2 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 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 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 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 2512471	NM_030653.4(DDX11):c.1633C>T (p.Leu545Phe)	DDX11 (L369F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504811	NM_030653.4(DDX11):c.2602C>G (p.Pro868Ala)	DDX11 (A579G +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2498553	Single allele	DDX11	Duplication (non-coding transcript variant)	not provided	GLikely benign
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 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 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 2457190	NM_030653.4(DDX11):c.1730A>G (p.Asn577Ser)	DDX11 (N255S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2444347	NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro)	DDX11 (A222P +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 2443106	NM_030653.4(DDX11):c.1419G>A (p.Thr473=)	DDX11	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2440725	NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr)	DDX11 (C374Y +5 more)	Single nucleotide variant (missense variant +1 more)	Warsaw breakage syndrome	GUncertain significance
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 2409999	NM_030653.4(DDX11):c.2516A>G (p.Lys839Arg)	DDX11 (K813R +6 more)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GUncertain significance
Select item 2409167	NM_030653.4(DDX11):c.1646C>T (p.Ala549Val)	DDX11 (A262V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408077	NM_030653.4(DDX11):c.2641C>T (p.Arg881Cys)	DDX11 (P592L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2375738	NM_030653.4(DDX11):c.2122C>T (p.Pro708Ser)	DDX11 (P708S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375656	NM_030653.4(DDX11):c.1375A>G (p.Ile459Val)	DDX11 (I283V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369897	NM_030653.4(DDX11):c.2521G>A (p.Val841Ile)	DDX11 (V791I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359741	NM_030653.4(DDX11):c.2279G>A (p.Gly760Asp)	DDX11 (G760D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355914	NM_030653.4(DDX11):c.499A>G (p.Arg167Gly)	DDX11 (R138G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2344063	NM_030653.4(DDX11):c.1439A>G (p.Asp480Gly)	DDX11 (D304G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334091	NM_030653.4(DDX11):c.1955T>C (p.Val652Ala)	DDX11 (V365A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320024	NM_030653.4(DDX11):c.1364T>C (p.Leu455Pro)	DDX11 (L168P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318992	NM_030653.4(DDX11):c.2266_2271+4dup	DDX11	Duplication (splice donor variant)	Inborn genetic diseases	GUncertain significance
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 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 2308020	NM_030653.4(DDX11):c.2626G>T (p.Ala876Ser)	DDX11 (A876S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301275	NM_030653.4(DDX11):c.856G>A (p.Val286Met)	DDX11 (V257M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2295725	NM_030653.4(DDX11):c.1843G>T (p.Ala615Ser)	DDX11 (A293S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283930	NM_030653.4(DDX11):c.1535C>G (p.Thr512Ser)	DDX11 (T486S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282800	NM_030653.4(DDX11):c.1354G>A (p.Val452Met)	DDX11 (V130M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279306	NM_030653.4(DDX11):c.1696A>G (p.Ile566Val)	DDX11 (I537V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269345	NM_030653.4(DDX11):c.1448T>A (p.Phe483Tyr)	DDX11 (F196Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261930	NM_030653.4(DDX11):c.1472A>G (p.Asn491Ser)	DDX11 (N315S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254416	NM_030653.4(DDX11):c.1867A>G (p.Met623Val)	DDX11 (M594V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2233058	NM_030653.4(DDX11):c.1353C>G (p.Phe451Leu)	DDX11 (F129L +5 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 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 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 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 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 2216763	NM_030653.4(DDX11):c.2474A>G (p.Gln825Arg)	DDX11 (Q796R +6 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2207855	NM_030653.4(DDX11):c.1991G>A (p.Cys664Tyr)	DDX11 (C635Y +5 more)	Single nucleotide variant (missense variant)	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 1805319	NM_030653.4(DDX11):c.877C>T (p.His293Tyr)	DDX11 (H117Y +4 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance

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