DDX51[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 2457688	NM_175066.4(DDX51):c.1934G>A (p.Arg645Gln)	DDX51 (R645Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460257	NM_175066.4(DDX51):c.1922C>T (p.Pro641Leu)	DDX51 (P641L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081098	NM_175066.4(DDX51):c.1904C>T (p.Ser635Phe)	DDX51 (S635F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271360	NM_175066.4(DDX51):c.1897G>A (p.Glu633Lys)	DDX51 (E633K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081096	NM_175066.4(DDX51):c.1891C>T (p.Arg631Trp)	DDX51 (R631W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081095	NM_175066.4(DDX51):c.1879C>T (p.Pro627Ser)	DDX51 (P627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459440	NM_175066.4(DDX51):c.1805C>G (p.Thr602Ser)	DDX51 (T602S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623067	NM_175066.4(DDX51):c.1777G>C (p.Val593Leu)	DDX51 (V593L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081094	NM_175066.4(DDX51):c.1763C>T (p.Thr588Ile)	DDX51 (T588I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081093	NM_175066.4(DDX51):c.1744G>A (p.Ala582Thr)	DDX51 (A582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081092	NM_175066.4(DDX51):c.1741G>A (p.Asp581Asn)	DDX51 (D581N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208305	NM_175066.4(DDX51):c.1723G>C (p.Glu575Gln)	DDX51 (E575Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527621	NM_175066.4(DDX51):c.1711G>A (p.Val571Met)	DDX51 (V571M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643629	NM_175066.4(DDX51):c.1686G>A (p.Thr562=)	DDX51	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348502	NM_175066.4(DDX51):c.1640T>A (p.Ile547Asn)	DDX51 (I547N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643630	NM_175066.4(DDX51):c.1626C>T (p.Gly542=)	DDX51	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081090	NM_175066.4(DDX51):c.1618G>A (p.Gly540Arg)	DDX51 (G540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081089	NM_175066.4(DDX51):c.1568T>G (p.Leu523Arg)	DDX51 (L523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216610	NM_175066.4(DDX51):c.1543G>A (p.Glu515Lys)	DDX51 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081088	NM_175066.4(DDX51):c.1541G>A (p.Arg514Gln)	DDX51 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643631	NM_175066.4(DDX51):c.1515G>A (p.Ser505=)	DDX51	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081087	NM_175066.4(DDX51):c.1496T>G (p.Val499Gly)	DDX51 (V499G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081086	NM_175066.4(DDX51):c.1492C>G (p.Leu498Val)	DDX51 (L498V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593377	NM_175066.4(DDX51):c.1483G>A (p.Val495Ile)	DDX51 (V495I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081084	NM_175066.4(DDX51):c.1448A>G (p.Tyr483Cys)	DDX51 (Y483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387617	NM_175066.4(DDX51):c.1444C>T (p.His482Tyr)	DDX51 (H482Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081083	NM_175066.4(DDX51):c.1402G>A (p.Gly468Arg)	DDX51 (G468R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539460	NM_175066.4(DDX51):c.1387G>C (p.Asp463His)	DDX51 (D463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400764	NM_175066.4(DDX51):c.1382T>C (p.Leu461Pro)	DDX51 (L461P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1206399	NM_175066.4(DDX51):c.1378G>A (p.Gly460Ser)	DDX51 (G460S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2553824	NM_175066.4(DDX51):c.1370C>T (p.Ala457Val)	DDX51 (A457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081082	NM_175066.4(DDX51):c.1363G>A (p.Gly455Arg)	DDX51 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469140	NM_175066.4(DDX51):c.1340A>G (p.His447Arg)	DDX51 (H447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207535	NM_175066.4(DDX51):c.1269G>C (p.Met423Ile)	DDX51 (M423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294934	NM_175066.4(DDX51):c.1246G>A (p.Ala416Thr)	DDX51 (A416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271358	NM_175066.4(DDX51):c.1229C>T (p.Ala410Val)	DDX51 (A410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282164	NM_175066.4(DDX51):c.1216C>G (p.Gln406Glu)	DDX51 (Q406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560072	NM_175066.4(DDX51):c.1213C>T (p.Leu405Phe)	DDX51 (L405F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353810	NM_175066.4(DDX51):c.1207G>T (p.Ala403Ser)	DDX51 (A403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271357	NM_175066.4(DDX51):c.1196C>T (p.Ala399Val)	DDX51 (A399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595010	NM_175066.4(DDX51):c.1174G>A (p.Ala392Thr)	DDX51 (A392T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379718	NM_175066.4(DDX51):c.1169C>T (p.Ala390Val)	DDX51 (A390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271354	NM_175066.4(DDX51):c.1124G>A (p.Arg375Gln)	DDX51 (R375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206588	NM_175066.4(DDX51):c.1096C>T (p.Arg366Cys)	DDX51 (R366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321181	NM_175066.4(DDX51):c.988C>A (p.Gln330Lys)	DDX51 (Q330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551095	NM_175066.4(DDX51):c.985G>C (p.Val329Leu)	DDX51 (V329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238031	NM_175066.4(DDX51):c.985G>T (p.Val329Phe)	DDX51 (V329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456057	NM_175066.4(DDX51):c.926C>T (p.Pro309Leu)	DDX51 (P309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333293	NM_175066.4(DDX51):c.913A>G (p.Thr305Ala)	DDX51 (T305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247443	NM_175066.4(DDX51):c.901T>C (p.Phe301Leu)	DDX51 (F301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246624	NM_175066.4(DDX51):c.898G>C (p.Val300Leu)	DDX51 (V300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360539	NM_175066.4(DDX51):c.841C>A (p.His281Asn)	DDX51 (H281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271355	NM_175066.4(DDX51):c.817G>A (p.Ala273Thr)	DDX51 (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788657	NM_175066.4(DDX51):c.798C>T (p.Phe266=)	DDX51	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3081106	NM_175066.4(DDX51):c.787A>G (p.Thr263Ala)	DDX51 (T263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216315	NM_175066.4(DDX51):c.743G>A (p.Arg248Gln)	DDX51 (R248Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407960	NM_175066.4(DDX51):c.742C>T (p.Arg248Trp)	DDX51 (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326640	NM_175066.4(DDX51):c.740A>G (p.Tyr247Cys)	DDX51 (Y247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467477	NM_175066.4(DDX51):c.727G>A (p.Gly243Ser)	DDX51 (G243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081105	NM_175066.4(DDX51):c.688C>T (p.Pro230Ser)	DDX51 (P230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081104	NM_175066.4(DDX51):c.636G>C (p.Gln212His)	DDX51 (Q212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081103	NM_175066.4(DDX51):c.625C>G (p.Leu209Val)	DDX51 (L209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319761	NM_175066.4(DDX51):c.616C>T (p.His206Tyr)	DDX51 (H206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537436	NM_175066.4(DDX51):c.607C>G (p.Pro203Ala)	DDX51 (P203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461152	NM_175066.4(DDX51):c.593C>T (p.Pro198Leu)	DDX51 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270307	NM_175066.4(DDX51):c.583G>A (p.Asp195Asn)	DDX51 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081102	NM_175066.4(DDX51):c.538A>G (p.Arg180Gly)	DDX51 (R180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081101	NM_175066.4(DDX51):c.527C>G (p.Pro176Arg)	DDX51 (P176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548599	NM_175066.4(DDX51):c.506G>A (p.Arg169Lys)	DDX51 (R169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254144	NM_175066.4(DDX51):c.498C>A (p.Phe166Leu)	DDX51 (F166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284526	NM_175066.4(DDX51):c.466C>A (p.Pro156Thr)	DDX51 (P156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523968	NM_175066.4(DDX51):c.418A>T (p.Ser140Cys)	DDX51 (S140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356890	NM_175066.4(DDX51):c.413G>C (p.Ser138Thr)	DDX51 (S138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613659	NM_175066.4(DDX51):c.366G>C (p.Glu122Asp)	DDX51 (E122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081100	NM_175066.4(DDX51):c.356C>T (p.Ala119Val)	DDX51 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081099	NM_175066.4(DDX51):c.214C>G (p.Arg72Gly)	DDX51, LOC130009245 (R72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254501	NM_175066.4(DDX51):c.208C>T (p.Pro70Ser)	DDX51, LOC130009245 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643632	NM_175066.4(DDX51):c.186G>C (p.Pro62=)	DDX51	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459971	NM_175066.4(DDX51):c.181G>C (p.Glu61Gln)	DDX51 (E61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271352	NM_175066.4(DDX51):c.170C>G (p.Ala57Gly)	DDX51 (A57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081085	NM_175066.4(DDX51):c.145C>G (p.Arg49Gly)	DDX51 (R49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459784	NM_175066.4(DDX51):c.127C>T (p.Arg43Cys)	DDX51 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271359	NM_175066.4(DDX51):c.106G>A (p.Glu36Lys)	DDX51, LOC130009246 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081108	NM_175066.4(DDX51):c.94C>T (p.Arg32Cys)	DDX51, LOC130009246 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271353	NM_175066.4(DDX51):c.86G>A (p.Gly29Asp)	DDX51, LOC130009246 (G29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614458	NM_175066.4(DDX51):c.59C>T (p.Pro20Leu)	DDX51 (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373513	NM_175066.4(DDX51):c.56G>A (p.Gly19Glu)	DDX51, LOC130009247 (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244436	NC_000012.11:g.(?_132414268)_(133263901_?)del	DDX51, EP400 +7 more	Deletion	not provided	GPathogenic
Select item 2684688	GRCh37/hg19 12q24.33(chr12:132523434-133055234)x3	DDX51, EP400 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic

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